Perspective - Tuberous Sclerosis Alliance.pdf by liningnvp


									                                                                                     Chairman’s Letter
                                                                                      Marion S Adams III
           801 Roeder Road, Suite 750                                                 Chairman of the Tuberous Sclerosis Alliance
          Silver Spring, MD 20910 USA
    (301) 562-9890 . Toll-free: (800) 225-6872
                Fax: (301) 562-9870

                                                                                     A    s I think about my family's every day life since
        Web site:

    Spring 2002 • Volume 96                                                               ‘ my 5-year-old son Robin was diagnosed with
             Michael J. Coburn,                                                      tuberous sclerosis (TS) at 8 months of age, I
                 President and CEO

                Beth R. Michaels
                                                           sometimes wonder how my family has accomplished some of the things we
                 Managing Editor,
            Director of Communications                     have had to do. I know that this is a common story for most of you that are
If you have opinions, questions or articles for            living this TS journey. We have been chosen to go down a different path;
Perspective, we would like to hear from you. Please
contact the managing editor to obtain a Submissions        however, our experiences have been both positive and negative. I think in a
Form and Guidelines.
                                                           strange way, we may all be a little better off because of this journey.
Perspective is intended to provide basic information
about tuberous sclerosis. It is not intended to, nor
does it, constitute medical or other advice. The
                                                               My wife Laura and I have spent many nights in the hospital with Robin,
Tuberous Sclerosis Alliance (TS Alliance) does not
promote or recommend any treatment, therapy,               with our two older sons left at home with my parents. We have missed
institution or health care plan. Readers are warned not
to take any action without first consulting a physician.   holidays and special things at school.
Commentary expressed herein reflects the personal
opinions of the author and does not necessarily reflect        Our two older sons have had to learn what a seizure is. They are no longer
the official views of the TS Alliance. Information
contained in the TS Alliance database is confidential      scared, and I would even say they are now seizure "experts". They come
and not provided nor sold to third parties.

Perspective is published quarterly by the National
                                                           running to let us know every time there is a seizure. They are there to help
Tuberous Sclerosis Association, Inc. d/b/a
Tuberous Sclerosis Alliance, a 501(c)(3), charitable       him down the stairs in the mornings to ensure he does not fall if he were to
                                                           have a seizure. They have grown accustomed to the many pills Robin takes
               Board of Directors
            Marion S. Adams III, Chair                     twice a day. They understand that things are a little different for him and have
            Frank Gallagher, Vice Chair
               David Parkes, Secretary                     become more compassionate and caring because of this journey.
             Celia Mastbaum, Treasurer
       Belinda Phillips, Immediate Past Chair
                  Thomas Bologna
                                                               Our entire family worked together to hold Robin still when we had to
                     Andrew Bott
            Elizabeth Buchsbaum, Esq.                      give him daily shots as he went through ACTH treatment. And we all played a
                    Chris Dinsdale
                    Charles Eggert                         part in helping Robin as he has struggled to learn to talk and walk and do the
                      Craig Elias
                  L. Andrew Fleck                          things that come so natural to the rest of us.
                     Kathy Groves
                    Carol Herscot                              Laura and I have learned what it is like to be on call 24 hours a day, every
                   Christy Hobart
                 Yukari Iwatani Kane
                    Scott Johnson                          day. Our life revolves around TS, but we try to lead as normal a life as
         David Kwiatkowski, M.D., Ph.D.
                Susan Lamont, Ph.D.                        possible. Laura and I have both had our times when we thought we could not
                    Carol Michael
                  Mary Jane Mudd                           deal with this any more. We have been lucky to have each other to lean on.
               Hope Northrup, M.D.
          Bonnie Gould Rothberg, M.D.                          Our family has been a team. This journey has been made easier by this
                     Chris Russell
                     David Scott
                     Marc Shapses
                                                           joint effort. We have learned what is really important in life, and I can
                   Patrick Sheffield
                    Jerrill Sprinkle                       definitely say we are a stronger family as a result of this.
           Elizabeth Thiele, M.D., Ph.D.
                   Williams Watts                              As we have met many of you over the last several years, we have found
   Endowment Fund Board of Directors                       that there is a very strong bond between all of us TS families. We are all living
             Mark Hyman, M.D., Chair
                Wilfred Cooper, Sr.                        this together. The Tuberous Sclerosis Alliance is all about families just like
                   Michael Elias
                  Cathy Krinsky
                   James Lawler
                                                           mine. The guidance, the support, the services, and the networking that the
                   Doug Loftus
                  Paul Robertson                           organization is able to offer, makes dealing with this disease a little bit easier
                     Al Rosen
                   Nancy Scott                             for all of us.
                  Jerrill Sprinkle

                                                                                                                              PERSPECTIVE    2
New Therapeutic Discovery
Institute Focuses on TS
Tuberous Sclerosis Alliance and The Rothberg Institute for Childhood
Diseases to Collaborate on Finding Treatments

T           he start up of a new, private,              several joint objectives. Continued focus             Yo u C a n H e l p Wi t h
            therapeutic discovery institute             on developing a nationwide clinical                   Drug Discovery at Home
            focusing on finding effective               network is essential to finding effective
treatments for individuals with tuberous                treatments, including clinic participation                 The Tuberous Sclerosis Alliance (TS
sclerosis (TS) was announced in February.               in potential drug trials in the future. The           Alliance) is seeking to proactively engage its
The Rothberg Institute for Childhood                    TS Alliance will also continue to focus on            members, families, friends and individuals
                                                        the development of a comprehensive                    interested in supporting medical research in
Diseases will focus on finding
                                                        patient registry to record genetic and                the therapeutic discovery process. It is the
medications to improve the quality of life
                                                        clinical expression as well as scans and              organization’s hope to get thousands of
of individuals diagnosed with TS
                                                        images to support increased knowledge of              individuals to help screen for potential drug
with great emphasis on life-saving
                                                                                                              targets using innovative technology, at home
interventions to treat terminal conditions              mutational analysis to support research
                                                                                                              or in your office. Anyone with a computer
that m a y d e v e l o p, s u c h a s r e n a l         and clinical care.
                                                                                                              and an Internet connection can help process
angiomyolipomas and pulmonary LAM.                          As the therapeutic discovery program
                                                                                                              information needed to screen the millions of
Drug discovery efforts will also focus on               gets underway, the TS Alliance will
                                                                                                              chemical compounds that may be the “key”
the varied clinical manifestations of TS                continue to seek out the best researchers
                                                                                                              to unlocking missing information that will
and potentially other disorders linked to               to continue progress towards under-                   lead to effective medicines. This process,
the TSC proteins and molecular                          standing what causes seizures in TS; how              known as Virtual Library Screening (VLS),
pathways. Institute founder Jonathan                    and why behavioral changes occur in TS;               musters the computational resources
Rothberg, Ph.D., expressed his personal                 continue focus on increasing the genetic              necessary to focus in on potential targets by
commitment to “leverage the research                    knowledge of TS; and continue to find                 using a screen saver program downloaded on
creativity found in universities with the               effective treatments for all aspects of TS.           personal computers.
added focus of a successful corporate                   The TS Alliance Center Without Walls                       The enormous volume of computations
culture to identify the most promising cell             consortium will coordinate information,               required to compare the millions of chemical
models that will allow rapid development                develop and provide reagents (animal                  compounds presents a huge obstacle to
of drugs to revert the cellular phenotype               models, antibodies and tissue needed for              traditional drug discovery of lesser known
(clinical manifestation).”                              research) and foster an environment of                disorders like tuberous sclerosis (TS). We
     As the newly formed institute located              collaboration between all researchers                 now have the opportunity to harness the
in Guilford, Connecticut, is organized,                 working to find treatments and cures                  resources of our growing community to help
collaborations with leading academic                    for TS.                                               find the medicines needed to treat TS.
institutions are being identified to create a               Jonathan Rothberg, Ph.D., and his                      It is easy to participate in this leading
                                                        wife Bonnie Gould Rothberg, M.D.,                     edge program and will not disrupt anything
consortium of some of the most capable
                                                        have been members and supporters of the               else you are doing on your computer.
scientists in the fields of cellular and
                                                        TS Alliance for several years following the           Anytime you are connected to the Internet,
m o l e c u l a r b i o l o g y, c h e m i s t r y,
                                                        TS diagnosis of one of their children.                the screen saver program receives an
biochemistry and bioinformatics. The
                                                                                                              assignment from the master computer. Every
Tuberous Sclerosis Alliance (TS Alliance)               Jonathan is founder, chairman and CEO
                                                                                                              time your screen saver is activated, the program
will work closely with the Rothberg                     o f Cu r a Ge n , a h i g h l y s u c c e s s f u l
                                                                                                              performs its assignment to evaluate a potential
In s t i t u t e t o s e e k o u t i n n ov a t i v e   genomics-based biopharmaceutical
                                                                                                              TS drug candidate. The next time you
researchers at all levels, from post-doctoral           company. Bonnie, a physician and team
                                                                                                              connect to the Internet, the program
fellows to accomplished scientists. The TS              leader at CuraGen, serves as a member of              automatically reports the findings to the master
Alliance Rothberg Award for Courage in                  the TS Alliance Board of Directors. The               computer and receives another assignment.
Research will continue to serve as a                    Rothberg family has been a leading                    This process will help narrow down the
mechanism to attract the talent necessary               supporter of TS research and the                      number of chemicals for laboratory research
to support collaborative goals to develop               National Family Conference.                           by identifying the best chemical targets. To
drugs or other therapies to treat those                                                                       participate in this program and learn more
                                                        For more information, visit the TS Alliance
living with TS.                                         Web site ( or the Rothberg         about it, visit the Rothberg Institute Web site
     The TS Alliance, as an active partner              Institute for Childhood Diseases Web site             at and click on
with the Rothberg Institute, will support               (                       “Community TSC”.

  3      SPRING 2002
TS Clinic Highlight: New York University
Comprehensive Epilepsy Center Opens
F   inding medical care that integrates
    expertise among disciplines is difficult.
Serious medical disorders are treated by
                                                     and neurologist to provide the best
                                                     possible care.
                                                         Dr. Miles, the director of the NYU
                                                                                                        Epilepsy Center, 403 East 34th Street, 4th
                                                                                                        Floor in Manhattan. To learn more about
                                                                                                        the TS center or to refer a patient for
specialists who know a lot about one                 Medical Center pediatric epilepsy                  evaluation, please call (212) 263-8318.
specific organ, but have only a fragmented           program, has worked with children with
view of a person’s overall health. This              TS for more than a decade. Dr. Devinsky,
                                                                                                        Daniel Miles, M.D. (left), and Orrin Devinsky,
approach is problematic for people with              the director of the CEC, is recognized as          M.D. (right), organized and direct the TS
syndromes like tuberous sclerosis (TS).              one of the top epileptologists in the              Center at New York University. Kimberly Parker,
    T h e t e a m o f 2 0 n e u ro l o g i s t s ,   country. Under the leadership of Drs.              R.N., is the main contact person for the center.
neurosurgeons, psychiatrists,                        Devinsky and Miles, the TS center has
neuropsychologists, nurse specialists, and           joined with a dozen other specialists in the
others who form the New York University              areas of child development, cardiology,
(NYU) Comprehensive Epilepsy Center                  dermatology, genetics, nephrology,
(CEC) are expanding their horizons as                ophthalmology, neuroradiology and
they enlist the collaboration of more than           psychiatry to ensure complete and
a dozen other specialists and health care            coordinated care of all aspects of the
providers to form a comprehensive                    disorder.
tuberous sclerosis center. The TS Center at              The goal of the TS Center at NYU is
NYU, organized under the direction of                to assist the patient, the patient’s family,
Daniel Miles, M.D., and Orrin Devinsky,              and the patient’s primary care physician in
M.D., strives to work closely and                    managing the many needs of individuals
collaboratively with the patient’s                   with TS. The center is located at the
pediatrician, internist, family practitioner         NYU-Mount Sinai Comprehensive

Gomez Award Presented to Dr. Roach
                      T h e Tu b e r o u s
                        Sclerosis Alliance
                   (TS Alliance) is
                                                         Dr. Roach is co-director of the TS
                                                     Clinic at the Texas Scottish Rite
                                                     Hospital for Children in Dallas.
                                                                                                            The $1,000 Gomez award is made
                                                                                                        possible through generous funds
                                                                                                        contributed by Mr. and Mrs. Harold
                   pleased to announce               Besides being professor of neurology at            Aronson, in honor of their son Peter
                   that E. Steve Roach,              the University of Texas Southwestern               Aronson, M.D., an individual with
                   M . D . , He l e n a n d          Medical School, he is also vice chair              tuberous sclerosis and a major contributor
                   Ro b e r t S . St r a u s s       for the Department of Neurology and                to the mission of the TS Alliance.
                   Professor of Neurology            the department’s director for the                      The award was originally created in
at the University of Texas Southwestern              Division of Child Neurology. Since                 honor of Manuel R. Gomez, M.D.,
Medical School, has been chosen as a                 1990, Dr. Roach has also served as                 who is known as the “father of tuberous
recipient of the TS Alliance Manuel R.               director for the Department of                     sclerosis” and a man who has pushed the
Gomez Professional Recognition Award.                Neurology at Children’s Medical                    knowledge base of the disorder further
    The annual Gomez Award recognizes                Center of Dallas, and since 1995                   than anyone else this century, while
individuals for outstanding achievement              served as the medical director for                 improving compassionate care for
in improving the understanding of                    O u r C h i l d re n’s Ho u s e Pe d i a t r i c   affected individuals and their families.
tuberous sclerosis (TS) and recognizes               Rehabilitation Hospital at Baylor                      “We are thrilled to be honoring Dr.
creative or pioneering efforts that have             University Medical Center in Dallas.               Roach with this award,” says Mike
improved either the understanding of TS                  “It is difficult to be with Steve for          Coburn, president of the TS Alliance.
or the clinical care available for those             even a few minutes and not be aware of             “He has been such an asset to the
affected. Individuals may be nominated               his sincere interest in helping individuals        advancement of knowledge in clinical
for the award for a recent but significant           with TS,” says science research colleague          care and research on tuberous sclerosis
breakthrough in the understanding of                 Elizabeth Petri Henske, M.D., of the Fox           for many years.”
the disease, or for a complete body of               Chase Cancer Center in Philadelphia,               Cover Photo: Dr. Roach with colleagues from the
work during their career.                            Pennsylvania.                                      University of Texas Southwestern Medical School

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                          PERSPECTIVE               4
Coordinated Clinical Care Through
Tuberous Sclerosis Clinics
B      eing able to access coordinated
       clinical care is a challenge that
many individuals with tuberous sclerosis
                                                       either Lori Batchelor at (214) 559-7824
                                                       or Catherine Thompson at (214) 559-7818.
                                                           Research projects that the center is
                                                                                                               For more information on the clinic
                                                                                                          and its research, contact Christina Anagnos
                                                                                                          at (617) 726-6540.
(TS) and their families face. A TS clinic              currently working on include:
is able to provide coordinated clinical                • Angiographic Embolization of Renal               TS Clinic at Cincinnati
care either at one facility or through a                 A n g i o m yo l i p o m a s i n Tu b e ro u s   Children’s Hospital
network of referrals. In providing                       Sclerosis Complex                                Medical Center
coordinated clinical care, a TS clinic can             • Seizure Remission and Discontinuation                The Tuberous Sclerosis Clinic at
improve the quality of life for those                    of Antiepileptic Drugs in Children               Cincinnati Children’s Hospital Medical
affected with tuberous sclerosis.                        with Tuberous Sclerosis and Epilepsy             Center is involved in numerous clinical
     The Tuberous Sclerosis Alliance (TS               • The Tuberous Sclerosis Affected                  areas and research projects to better
Alliance) supports the vital role that a                 Child and Parent/Family Concerns                 understand and treat tuberous sclerosis.
TS clinic can play in improving the                    • The Incident and Natural History of              As the patient volume has grown, the
lives of those affected. During the past                 Hepatic Angiomyolipomas in                       TS clinic provides an opportunity to
y e a r, t h e o r g a n i z a t i o n h a s b e e n     Tuberous Sclerosis Complex in the                participate in a variety of ongoing
reviewing how it can partner with                        Pediatric Population                             clinical research projects relating to TS.
existing TS clinics as well as facilitate              • Development of a Rapid Protocol to                   Some of the current research projects
the development of new clinics in areas                  Detect TSC1 and TSC2 Gene                        include: evaluation of anti-epileptic and
where they currently do not exist.                       Mutations (in collaboration with                 behavioral treatments; the relationship
     As a result, the TS Alliance will                   Hope Northrup, M.D.).                            between specific genetic mutations and
provide resources in three areas to TS                                                                    symptoms of TS; and the evaluation of
clinics: marketing, business resources                 TS Comprehensive                                   TS brain lesions with magnetic
and ongoing education and support.                     Clinical Program at                                resonance spectroscopy (MRS).
The TS Alliance will provide awareness                 Massachusetts General                                  Current neuropsychology research
about an existing or new clinic to area                Hospital                                           is exploring the impairments associated
constituents and the professional                          The TS clinic at Massachusetts General         with TS as well as the outcome of early
community; business resources that                     Hospital (MGH) is now under the                    intervention. For more information on
include a sample business plan, sample                 direction of Elizabeth Thiele, M.D., Ph.D.         this and other research being done at
budget and a job description for a nurse               Dr. Thiele moved from Children’s Hospital          the Cincinnati Children’s Hospital
coordinator; and ongoing education                     in Boston to Massachusetts General                 Medical Center, contact Cindy Tudor
and support, which includes private list               Hospital to direct the Comprehensive               at (513) 636-4222.
serves for physicians and nurses.                      Clinical Program on Tuberous Sclerosis.
     Perspective will frequently feature               Aspects of the program include:
clinic updates. Below are some updates                 • Thorough neuropsychological                      Private List Serves
from three TS clinics.                                   evaluation of every child with TS.               Available for Medical
                                                       • Diagnostic evaluation, seizure treatment,        Professionals
TS Clinic at Texas                                       and referral to other specialists involved
                                                                                                          The Tuberous Sclerosis Alliance has
Scottish Rite Hospital                                   with the program as indicated.                   established two new private list serves: one
for Children                                           • A school liaison program with the goal to        for physicians and one for nurses. The
    A parent/family meeting will be held                 optimize the educational opportunities           purpose of these list serves is to bring
on March 23, 2002, at the TS Clinic at                   for children with TS.                            together the knowledge of all of those who
Texas Scottish Rite Hospital for Children              • A neurogeneticist involved with the              treat individuals with tuberous sclerosis.
(TSRHC) in Dallas. Discussion topics will                program, Katherine Sims, M.D., runs a            The list serves are private forums where
include behavior-associated issues for                   clinically certified neurogenetics               healthcare professionals can discuss the
children with TS. Following the meeting                  laboratory that performs genotype                management, treatment and care of
there will be a picnic at Shiver's Park                  analysis and prenatal testing. Genetic           individuals with tuberous sclerosis. If your
                                                                                                          physician or nurse is interested in joining
(located on the TSRHC campus). For                       counselors are available to meet with
                                                                                                          one of these list serves, please have them
more information on the meeting, call                    families.
                                                                                                          e-mail Holly Knorr at

  5     SPRING 2002                                                                                       Tu b e r o u s S c l e r o s i s A l l i a n c e
Research Update
by Vicky Holets Whittemore, Ph.D.

Brain Abnormalities in                                 Treatment of Epilepsy                              with tuberous sclerosis who had two
Tuberous Sclerosis                                     in Tuberous Sclerosis                              seizure foci: one in the left temporal
      Tuberous sclerosis (TS) was given                      David Neal Franz, M.D., and co-              lobe and one in the right posterior
its name by Désiré-Magloire                            workers at Children’s Hospital Medical             quadrant. Two years after surgery, no
Bourneville, M.D., in 1879 when he                     Center in Cincinnati, Ohio, reported               tonic-clonic or complex partial seizures
observed raised, opaque and sclerotic                  on the use of lamotrigine to treat                 have occurred, simple partial motor
areas (tubers) in the cerebral cortex of a             epilepsy in individuals with tuberous              seizures involving the right foot have
t e e n a g e g i r l . Tu b e r s a n d o t h e r     sclerosis. They report that 42 percent of          been reduced by more than 80 percent,
characteristic brain lesions seen using                the individuals using lamotrigine were             and other simple partial seizures have
brain-imaging techniques are still used                seizure free, 37 percent had a less than           been eliminated. There was also marked
to diagnose TS. A recent study by                      50 percent reduction in seizure                    improvement in the child’s cognitive
Kahnum Ridler and colleagues at the                    f r e q u e n c y, a n d 3 2 p e r c e n t h a d   and motor developmental status after
University of Cambridge revealed                       subjectively improved behavior and/or              surgery. The authors conclude that in
changes in the brain volume in specific                alertness to daily activities. Sixty-seven         selected patients with bilateral seizure
regions in individuals with tuberous                   percent had no change in this regard,              foci involving separate lobes, aggressive
sclerosis who have normal intelligence.                and one individual became worse.                   bilateral surgery can be safe and effective.
They conclude that changes in the                      Responders were more likely to not have                The use of Vigabatrin to treat
brain associated with TS may be                        a history of infantile spasms, and to              infantile spasms continues to be
subtler and more extensive than had                    have experienced only partial seizures.            controversial because of the risk of
been suspected. The researchers believe                      D. Parain, M.D., and co-workers at           developing visual field defects. Rima
that these brain abnormalities appear                  the Centre Hospitalier Universitaire in            Nabbout-Tarantino, M.D., from
during the development of the brain                    Rouen, France, described the results               Necker Enfant Malades in Paris,
and persist into adulthood. How these                  obtained using left vagal nerve                    France, concludes that the benefits
brain abnormalities affect behavior,                   stimulation (VNS) for at least six                 obtained from early and rapid control
emotion, seizures, etc., is yet to be                  months in children with tuberous                   of infantile spasms using Vigabatrin
determined.                                            sclerosis with intractable epilepsy. Nine          outweigh the risks of developing visual
      Peter Crino, M.D., Ph.D., and his                out of 10 children had at least a 50               field defects. However, she recommends
c o l l e a g u e s a t t h e Un i v e r s i t y o f   percent reduction in seizure frequency,            using Vigabatrin for a short period of
Pe n n s y l v a n i a h a v e d e v e l o p e d       and five out of 10 had a 90 percent or             time, and withdrawing the drug if it is
techniques to study the DNA from                       greater reduction in seizure frequency.            not effective in treating infantile
individual cells in tubers that were                   No adverse events were encountered.                spasms.
removed from the brains of individuals                 Comparison with published and registry                 R. Riikonen, M.D., at Kuopio
with tuberous sclerosis at the time of                 patients revealed improved seizure                 Un i v e r s i t y Ho s p i t a l i n Ku o p i o ,
e p i l e p s y s u r g e r y. U s i n g t h e s e     control in the TS individuals using VNS.           Finland, refutes these conclusions and
techniques, they are able to detect                    Comparison with the group undergoing               suggests that ACTH be used as the
which genes are turned on and which                    seizure surgery demonstrated improved              drug of choice for infantile spasms
ones are turned off in the tubers. This                outcomes after surgery.                            because Vigabatrin does not provide a
research will help us to understand                          VNS appears to be an effective and           marked benefit over ACTH. The visual
what causes seizures in individuals                    well-tolerated adjunctive therapy in               field defects have not been found to be
with TS, and how seizures and seizure                  patients with TS and seizures that are             reversible in adults once Vigabatrin has
medications affect brain cells. Dr.                    refractory to medical therapy. They                been withdrawn, but a recent study
Cr i n o’s re s e a rc h re l i e s o n t i s s u e    concluded that resective surgery may have          indicates that the defects may be
donations from individuals with TS                     a better prospect for improved seizure             reversible in some children treated with
who are undergoing seizure surgery, so                 control, but that the VNS is an option for         Vigabatrin. Additional follow-up
please contact the Tuberous Sclerosis                  individuals prior to surgery, or who are           studies are needed to verify this finding.
Alliance if you have a surgery                         not candidates for seizure surgery.
scheduled and you are willing to have                        P. Romanelli, M.D., and colleagues           Vicky Holets Whittemore, Ph.D., is the director for
some of the tuber tissue donated for                   at New York University Medical Center              the Center Without Walls and is senior science
this important research.                               described epilepsy surgery in a child              advisor for the Tuberous Sclerosis Alliance.

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                              PERSPECTIVE                6
Scientist Spotlight
                                              carcinomas. Her research on the “two-        treatments and therapies. In 2001, Dr.
                                              hit” theory of tuberous sclerosis, which     Henske received the LAM Foundation
                                              was funded by the Tuberous Sclerosis         Scientific Advancement Award.
                                              Alliance (TS Alliance) and the National            Hard work and dedication has led
                                              Institutes of Health (NIH), helped to        to funding for Dr. Henske’s research
Elizabeth Petri                               demonstrate that both normal copies of       f r o m t h e T S A l l i a n c e , Na t i o n a l
Henske, Ph.D.                                 either the TSC1 or TSC2 genes were           Institute of Diabetes & Digestive &
Member with Tenure, Medical                   absent in tumors from individuals with       Kidney Diseases (NIDDK) and the
Science Division                              tuberous sclerosis, resulting in the         Na t i o n a l He a r t Lu n g a n d Bl o o d
Fox Chase Cancer Center, PA                   overgrowth of cells into tumors. This        Institute (NHLBI) at NIH, March of
                                              genetic phenomenon, known as loss of         Dimes, and from the LAM Foundation.
    Dr. Henske’s research focus is on two     heterozygosity (LOH), has been helpful       She also serves on the professional
related disorders: tuberous sclerosis (TS)    in her more recent work on LAM.              advisory boards for the Tuberous
and pulmonary lymphangiomyomatosis                Dr. Henske moved to the Fox              Sclerosis Alliance, the LAM Foundation
(LAM). Her interest in tuberous sclerosis     Chase Cancer Center in Philadelphia in       and the PKD (polycystic kidney disease)
began when she was a research fellow          1996 and her research has expanded to        Research Foundation.
working with David Kwiatkowski,               include pulmonary LAM, which affects               On a more personal note, Dr. Henske
M.D., Ph.D., at Brigham and Women’s           women almost exclusively. LAM is a           is one of those rare clinician scientists who
Hospital in Boston, following her             rare lung disease that can occur in          has true compassion for the individuals
completion of medical school at               women with TS (TSC-LAM) and in               with TS and/or LAM, is never too busy to
Harvard, and training in internal             women who do not have TS (sporadic           talk to an individual who needs her expert
medicine and medical oncology at              LAM). LAM shares two features with           advice or second opinion, and is truly a
Massachusetts General Hospital.               TSC: distinctive cells that infiltrate the   gifted mentor for the young scientists
    Initially she was interested in the       lung and benign kidney tumors (renal         working with her. The TS Alliance and
genetics of tuberous sclerosis,               angiomyolipomas). Her research on            individuals with TS and LAM are truly
specifically the infrequent malignant         LAM has lead to new ways of thinking         honored to have Dr. Henske dedicated to
kidney tumors called renal cell               about the disease, and may lead to new       research on these conditions.

Dr. Henske is Chosen as Recipient of
Rothberg Courage Research Award
T    The Tuberous Sclerosis Alliance
     (TS Alliance) is pleased to announce
that Elizabeth Petri Henske, M.D., a
                                              two TS genes, TSC1 and TSC2, lead to
                                              kidney (renal) and lung (pulmonary)
                                              disease in both TS and
                                                                                           Bonnie Gould Rothberg, M.D., and
                                                                                           the Rothberg family. The Rothbergs are
                                                                                           actively involved in the development of
noted scientist at the Fox Chase Cancer       lymphangiomyomatosis (LAM). The              accelerated research for TS.
Center in Philadelphia, Pennsylvania,         protein products of the TSC1 and                 “ We look for ward to working
has been chosen as a recipient of the         TSC2 genes, hamartin and tuberin             closely with Dr. Henske and other
Tuberous Sclerosis Alliance Rothberg          respectively, are found in most normal       exceptionally talented professionals
Award for Courage in Research. This           adult human tissues, and TS affects          associated with the Fox Chase Cancer
award will provide Dr. Henske’s medical       nearly every organ system including the      Center,” says TS Alliance President and
research program on tuberous sclerosis        brain. This suggests that these proteins     CEO Michael Coburn. “In making this
(TS) with fellowship support of $117,000      have broad biological relevance.             award, the Tuberous Sclerosis Alliance
over three years. Fellows supported by this       The TS Alliance Rothberg Award           recognizes the high quality of medical
award are designated as “Tuberous Sclerosis   for Courage in Research was made             research undertaken by the Fox Chase
Alliance Rothberg Courage Fellows.”           possible through a special research fund     Cancer Center.”
    Dr. Henske’s research is focused on       established by Jonathan Rothberg,
understanding how mutations in the            Ph.D., CEO of CuraGen, and his wife

 7     SPRING 2002
Government Relations Update

         he Tuberous Sclerosis Alliance              Alliance will soon begin developing        to TS research. TS Alliance President
         (TS Alliance) embarked on a                 meaningful outreach to the leadership      Mike Coburn stated, “We believe that
         major new government                        of the National Institutes of Health to    we can work effectively with program
relations program last year and                      gain the federal government’s active       managers within the Department of
focused efforts on getting the                       participation in TS research and           the Army to help develop this
attention and support of Congress to                 awareness.                                 research program, which will create a
help raise the profile of tuberous                                                              call for proposals on the TS proteins.
sclerosis ( TS) and increase the                                                                We will help promote the availability
g ove r n m e n t’s i n vo l ve m e n t a n d        Appropriations Bill                        of these funds, and although the
financial support for research. We are               Includes Report                            funds are not provided to the TS
pleased to announce the following                    Language Requesting                        Alliance, we have immediately caused
accomplishments, which were                          More Government                            $ 1 m i l l i o n m o re i n ov e r a l l TS
included in legislative action                       Involvement                                research to take place.”
completed as of January 2002.                            Report language directing the
                                                     National Institutes of Health to
                                                     enhance research was included in the       TS Alliance Recognizes
Congress Urges                                       Labor, Health and Human Services           Representative Kelly
Increased Support for                                and Education appropriations bill          with Champion Award
Tuberous Sclerosis                                   signed by President Bush on January             The TS Alliance has announced
     The U.S. Senate by unanimous                    10, 2002. This appropriations bill,        that Congresswoman Sue Kelly of
consent joined the House of                          with supporting report language            New York has been named recipient
Representatives in passing House                     agreed upon by both the House              of a newly established “Champion”
Concurrent Resolution 25 (H. CON.                    and Senate in late December, adds          award to recognize and thank those
RES. 25), expressing the sense of                    more strength to H. CON. RES.              who help increase awareness of
Congress about tuberous sclerosis.                   25. The House Subcommittee of              tuberous sclerosis. Rep. Kelly has
Although the TS Alliance was                         Appropriations for Labor Health and        passionately encouraged her
successful in getting a Senate                       Human Ser vices and Education              colleagues in Congress to find ways to
resolution introduced, House approval                included in its report to Congress,        support increased knowledge about
of H. CON. RES. 25 on December 4,                    “The Committee encourages the              TS and increase the government’s role
2001, caused the resolution to be sent               National Institute of Neurological         in research on TS.
to the Senate for concurrence.                       Disorders and Stroke (NINDS) to                 The commitment of Rep. Kelly
     It was Representative Sue Kelly                 enhance research in this area              and progress made toward getting the
( N Y ) w h o f i r s t i n t ro d u c e d t h e     [tuberous sclerosis] through all           federal government’s help in research
resolution in the 107th Congress in                  available mechanisms as appropriate.”      and awareness and because of her
Fe b r u a r y 2 0 0 1 . Du r i n g Ho u s e                                                    concern for all affected by tuberous
proceedings on December 4, Rep.                                                                 sclerosis make Rep. Sue Kelly a true
Kelly declared, “H. CON. RES. 25                     $1 Million                                 champion of our cause. The TS
highlights the severity of tuberous                  Immediately Available                      Alliance will present the award to
sclerosis and affirms the federal                    for Research                               Congresswoman Kelly on March 21,
g ove r n m e n t’s re s p o n s i b i l i t y t o       The TS Alliance was also               2002, in conjunction with the D.C.
facilitate research in this area. We                 successful in getting tuberous sclerosis   Food & Wine Tasting awareness and
must build on the foundation of                      research included as part of the           f u n d - r a i s i n g e ve n t . Ou r e n t i re
knowledge of tuberous sclerosis that                 D e p a r t m e n t o f t h e A r m y ’s   community thanks Rep. Kelly for her
has already been built, largely through              Congressionally Directed Medical           interest, support and commitment to
the organization and resources of                    Research Program. The $1 million           our mission to find a cure for TS and
friends and families of TS patients.”                line item in the Department of             enhance the quality of life for all
     With H. CON. RES. 25 receiving                  Defense budget for TS research is          affected.
unanimous support from both                          very specific and must, at the
c h a m b e r s o f C o n g r e s s , t h e TS       direction of Congress, be applied only

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                  PERSPECTIVE                 8
TS Alliance to Host
International TS
Research Conference                                                         President’s
    The Tuberous Sclerosis Alliance (TS
Alliance) will host an international
                                                                             Mike Coburn
tuberous sclerosis (TS) research                                             President and CEO of the Tuberous Sclerosis Alliance
conference September 19 – 22, 2002, in
the Washington, D.C., area. The primary
focus of the conference will be to develop
a blueprint for comprehensive TS
                                                                            A     mong the many important programs of the
                                                                                  ‘’Tuberous Sclerosis Alliance (TS Alliance) is
                                                 our outreach to those who turn to us for information about a variety of
research. The National Institutes of
Health (NIH) through the National                issues concerning living with tuberous sclerosis (TS) or for those managing
Institute for Neurological Disorders and         the care of an individual affected by TS. Perspective serves as one of the most
Stroke (NINDS) is a sponsoring partner           important parts of our outreach, providing a balance of information about
in this conference. More than 200                issues affecting those with TS and resources to help manage care. Perspective
scientists and physicians who are pursuing       also provides a vehicle to share personal stories of both triumph and
scientific and clinical research on tuberous     challenge and gives the TS Alliance a forum to keep our community
sclerosis are expected to attend. Experts in     informed on new developments.
scientific disciplines related to TS will also       During the past few months there have been a number of activities
be invited to participate in review and          supporting the TS Alliance outreach efforts. Many readers have received a
strategy sessions. Goals of the conference       survey seeking input on the types of services and resources that the TS
are to evaluate progress in research on TS,      Alliance should develop to best support our constituents. To obtain the best
identify new research initiatives, and           possible information, 5,000 individuals were randomly selected from our
determine research priorities for future         database to receive the survey. We thank those who took the time to provide
endeavors by the NIH, TS Alliance, and           thoughtful input and information through the survey. We view the surveys’
other research institutes and                    pending results as an important tool in helping us continue to increase the
collaborations.                                  effectiveness of our programs, and ultimately helping us shape our future.
    Complete information on the                      Perspective gives us a chance to report on progress we make in our
conference will made available on the TS         commitment to engage the federal government unlike we ever have before.
Alliance Web site (           You will notice announcements of our progress in this area (see page 8),
and through a series of upcoming                 which includes an immediate increase of $1 million in TS research funding
announcements.                                   and the support from Congress to engage the federal research and medical
                                                 community in TS research, clinical care and awareness.
                                                     The TS Alliance must continue to be the driving force in research that
                                                 will help identify the best possible treatments and care for any individual
New Vice President for                           born with tuberous sclerosis. We are fortunate to have a growing number of
Development and                                  talented scientists and physicians working every day to find ways to minimize
Communications                                   the affects of TS. Therefore, our outreach to the scientific and medical
                                                 community is extremely critical so that we can continue to increase
We are pleased to announce that Rebecca
                                                 awareness within the scientific community and attract new and innovative
Bull has been promoted to Vice President
of Development and Communications.               researchers. We will also seek collaborations with others to help significantly
Becky joined the Tuberous Sclerosis              increase the level of research directly on TS.
Alliance in December 2001 as Director                As you read this issue, the TS Alliance is involved in scientific review of
of Community Campaigns and Member                proposed new research. We are evaluating new opportunities for scientific
Development. She introduced the                  collaboration. The TS Alliance is also planning a major international scientific
enormously successful STAMP OUT                  meeting for the fall of 2002 to bring together scientists and physicians to
Tuberous Sclerosis letter-writing campaign,      review current progress on TS research and identify opportunities to accelerate
which raised more than $260,000 in its           the translation of scientific knowledge to clinical application.
first year. Becky has been instrumental in           Reaching out to others is indeed what the TS Alliance will continue to
the support and development of a                 do, helping make available the best possible service to those we serve. It is
number of special events and has been            also this outreach that will help clinicians and other caregivers provide the
one of the architects of the new                 best care to individuals with tuberous sclerosis. Our commitment to work
Community Alliance and volunteer                 with others to find scientific discoveries remains the hope for finding a cure
program. Becky's fund-raising, planning          for TS and so our outreach to the scientific community, the government, and
and communication skills will continue           those uniquely qualified to help achieve our vision, will be sought out
to serve the organization well.                  aggressively as part of our commitment and service to you.

                                                                                          Tu b e r o u s S c l e r o s i s A l l i a n c e
Your Home Health Care Aide:
Establishing a Positive Relationship
By Kim Champion

Y      ou have made the decision to let
       an aide come into your home to
assist. That was hard enough. Now
                                                          Be completely honest about your
                                                      needs. Overcome any embarrassment
                                                      or guilt associated with describing why
                                                                                                               "transportation to salon every Friday
                                                                                                               using employee's car".
                                                                                                                   Give feedback to the agency on
you’re getting apprehensive about                     you need help and what kind of help                      a timely basis. "Nip it in the bud," is
what to expect when the aide arrives                  you need. Remember that you are                          good advice. Most problems start out
for work. If you don't have experience                dealing with professionals who have                      small and can be best resolved when
with in-home assistance, all sorts of                 helped a variety of clients. They are                    addressed promptly. If you are
"worst case scenarios" are whirling                   experienced in meeting the needs of                      experiencing a problem with the aide,
about in your head. And then there                    people just like you. Home health care                   call the agency. This benefits you in
are the questions. What should you                    professionals are prepared to deal with                  two ways: you do not have to be
do if you don't like the aide? How                    tough situations such as Alzheimer's,                    involved in reprimanding the aide,
should you approach problems? Who                     alcoholism, Parkinson's, strokes,                        and it prompts the agency to
supervises the aide?                                  incontinence and stressful family                        diplomatically resolve the problem.
     Assuming that you have hired an                  circumstances.                                           Employee supervision is the
aide from a home health care agency,                      State your preferences from the                      responsibility of the agency. If the
you can expect a lot of support in                    start. The best way to get exactly what                  problem cannot be resolved to your
e a s i n g yo u r a n x i e t i e s . It i s t h e   you want is to be specific. Give a                       satisfaction, request the agency send a
agency's job to answer your questions                 detailed request to the agency so that                   different aide. The agency will handle
in advance and resolve any issues that                the aide they send will meet your                        the hiring and firing for you.
arise. The key to facilitating your                   needs. Items to include are your                             If you start off with honesty and
satisfaction and comfort is good                      household rules, such as "no smoking"                    communication, having a home
communication with the agency                         or "kosher kitchen". Also express your                   health care aide will be a successful
management and with your aide.                        daily routines and how to follow these,                  and beneficial experience.
     Here are a few tips for establishing             such as "up at 7 a.m.", "breakfast first,
a positive relationship with your                     medicine second, shower last", "I need                   Kim Champion is the owner of Champion Home
home health care professional:                        privacy from 9 a.m. to 11 a.m.",                         Health Care, Inc,. in Boca Raton, Florida.

                                                                                                                Home health care aide Jennifer Viereck (left) has learned a
                                                                                                                great deal about tuberous sclerosis from taking care of
Learning Through Care                                 no certainties. There is no miracle drug                  Hannah Linsin, a child with TS.
                                                      that will mercifully erase TS.
    Three years ago, I had no clue what                    Hannah and I will be sharing a
tuberous sclerosis (TS) was. Today, it                moment on the swing set, rolling
surrounds me and my life like smog                    around giggling uncontrollably on the
engulfs Los Angeles. I do not have TS,                floor, or flooding the bathroom with
but I take care of a precious little girl,            our bath water, and like a bolt of
Hannah, who was born with it.                         lightening, a seizure will strike and we
    When I first came to my job two-                  are reminded of the difficulties of this
and-a-half years ago, I had never heard               disease. But at the same time, I have
the term tuberous sclerosis, nor could I              never known a little person who
pronounce it. I wasn’t nervous knowing                struggles each day, yet has such a
that I would be caring for a baby with                p o s i t i ve , h a p p y o u t l o o k o n l i f e .
seizures because before Hannah, I                     Despite all the hospitalization, new
didn’t know much about them. That                     medications, endless tests, needles and
has all quickly changed. With each                    visits to the doctor, Hannah will still                  a “special” person is a love that I will
passing hour and day, I become more                   smile at all the wonders of her world.                   know as the greatest of all time.
aware and educated about TS. For me,                       From my perspective, it has helped
one of the most difficult things about                me to see that difficulties in life can be               Jennifer Viereck is a home health care aide of a child
dealing with TS is the fact that there are            overcome and that the love shared with                   with tuberous sclerosis in Potomac, Maryland.

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                                 PERSPECTIVE                   10
Perspective on Family, a Growing
By Craig Elias

                                                                                                                   Craig Elias, with his wife
M       y wife Thistle and I opted to
        expand our family through
adoption after Jeremy, our first child,
                                                                                                                       Thistle, could not be
                                                                                                                 happier about the growing
                                                                                                                  experiences of raising two
was diagnosed with tuberous sclerosis                                                                                  children with special
                                                                                                                     needs, Jason (left) and
(TS). By the time Jeremy was 2 1/2,                                                                                                   Jeremy.
his delays were apparent and he was
already receiving early intervention as
well as other outpatient therapies. At
that time we met Jason. Jason was nine
months old and significantly
developmentally delayed. He couldn't
sit, let alone crawl. He didn't babble,
he didn't cry and he didn't play. He
was, to the casual observer, an adorable
l u m p t h a t a t e a n d p o o p e d . We
struggled with the concept of choosing
to adopt a child who would potentially
have special needs and there was no
way of knowing what Jason's future
would hold. But we were honored to
be chosen by his birth mother (it was
an open adoption) and we proceeded             he is because of Jason. We fight with          I was periodically reminded that
with the placement.                            bureaucracies, sit through                 Mommy does everything the right
     Before Jason was placed with us,          individualized education programs          way, and I, well, I simply don't.
he had an appointment with a                   (IEP's), attend seminars and shuttle       Needless to say, I found myself
developmental pediatrician that had            Jeremy to countless sessions of            trapped in the myopic state of
been scheduled by his foster mother.           therapy, and it is all worth it. But the   parenthood where I forbade myself
I met Jason for the first time in the          best thing that has happened to            the privilege of feeling grateful for all
doctor's office at that appointment.           Jeremy's development is his brother.       that I have. Writing the above story
The doctor evaluated Jason for three           We had no idea that their mutual           about siblings and development
hours and we spoke a great deal. In            dependence would be so reciprocal          allowed me a momentary escape
addition to prescribing early                  and we'll never deserve credit for         from the eddy of lingering anger
intervention for Jason, the doctor             foresight. We're just happy to be so       coupled with exhaustion. For the first
was confident that Jason's delays              blessed.                                   time today, I can recall all the times
would disappear with the                                                                  the boys laughed and the actual fun
stimulation of a sibling. At the time,         Later, The Daily Trials                    we had this weekend. I no longer
and certainly now as well, Jeremy              Prove Me Grateful                          mind that I am now intimately
was definitely the stimulating type.              I'm writing this after having           acquainted with our heating ducts,
     Nine months later, Jason tested           spent the weekend alone with the           and pee pee accidents were nothing
out of early intervention. At the age          boys. Thistle had to go to New York        new and won't be disappearing
of 18 months he was assessed to have           and the boys weren't happy about it.       anytime soon, and really no big deal.
the developmental age of a 21-                 By yesterday evening, they made sure       I will always be grateful for all that I
month-old child. His progress was              I wasn't happy about it either. In 36      have.
astonishing. Now, Jason is 3 1/2 and           hours I changed two sets of urine
Jeremy is 6 years old and in                   soaked bed sheets, two pairs of pants
kindergarten. Jeremy's delays are              that suffered a similar fate, and after
evident and he still receives a lot of         preparing breakfast this morning I         Craig Elias is the owner of Elias Studios, a
help, but there is no doubt in my              spent two hours fishing puzzle pieces      furniture design studio in Pittsburgh, Pennsylvania,
mind that Jeremy is doing as well as           out of the heating ducts.                  and is a TS Alliance Board Member.

 11      SPRING 2002                                                                      Tu b e r o u s S c l e r o s i s A l l i a n c e
C   O    V   E   R        S    T   O    R   Y

              sa i i i s
CHILD WITH di b l t e
By Linda Creighton, L.C.S.W.-C

                  ost families want to believe         unique, important and special.                      c o u n t y j u d g e r e v i e w s S o n n y ’s
                  the myth that their child            Brothers and sisters influence each                 conservatorship. This year, a court
                  cannot be born with a                other and play important roles in                   decision was made that Sonny has the
handicap: that only happens to other                   each other’s lives. The siblings are                right to make his own medical
people’s children. As a result, with rare              first playmates. As they mature, they               d e c i s i o n s w h i l e Na n c y r e m a i n s
exceptions, children with disabilities                 often take on new roles with each                   empowered to make his financial
are born into families who do not have                 other. Over the years, they are many                decisions. In all intents and purposes,
the knowledge, skills, or the support                  things to each other—teacher, friend,               Nancy has become Sonny’s parent.
system in place to maintain the                        c o m p a n i o n , p r o t e c t o r, e n e m y,        David Sherman, 12, is the big
complexities of what lies before them.                 confidant and role model.                           brother of 9-year-old Christopher. The
      In the beginning, families may feel              Below are some siblings who have                    brothers often play dart games, ride
threatened with the loss of their dream                learned to take an active role in                   bikes and scooters, and chase each
for a healthy, normal child when they                  helping with the care of their special              other around. David says, “[Christopher]
learn that their newborn has tuberous                  needs sibling.                                      is a normal kid, except for the fact
s c l e ro s i s ( TS ) . Eve n t u a l l y, m o s t        Eight-year-old Ashlyn Johns is an              that he stutters and is on seizure
families come to accept the diagnosis                  active participant in the care of her 5-            medication. He is very sweet and well
internally and make shifts in their                    year-old sister Morgan. From the time               mannered.” David believes Christopher
expectations and begin to identify not                 Morgan was born, Ashlyn got her                     understands the world well and knows
o n l y t h e i n f a n t’s n e e d s , b u t t h e    pacifier, mimicked changing diapers,                how to behave and act. Once when
family’s needs as well. For a family to                calmed Morgan down and assisted in                  David broke his arm, Christopher told
have balance and harmony in their                      giving her daily doses of medicine.                 him not to worry because it was “his
life they must reach beyond the                        Ashlyn often knows what Morgan                      hospital” they were visiting. Knowing
traditional roles of the family and                    needs before the rest of the family.                that Christopher had been through
recognize that it takes a community                    Morgan is calmed by her big sister’s                some of the same hospital procedures
to raise a child with disabilities.                    presence and they have a special bond.              he endured helped David get through
Below are stories about the roles                      Morgan has done a lot for Ashlyn,                   the ordeal. Their relationship is about
siblings play, information about                       too. When an autistic student was                   giving and taking.
community services, the importance                     placed in Ashlyn’s class, she was able
of special education in the care for a                 to help shape the way that the class                Community Programs
child with disabilities, and how to                    treated the boy and made them feel                      All children grow emotionally and
receive and provide support to other                   comfortable about his differences.                  intellectually in different ways and at
families experiencing the same                              Nancy Ardell, age 58, is the
challenges of having a family member                   devoted sibling of Paul (Sonny). At                                               Paul Ardell (Sonny),
                                                                                                                                         a 53-year-old with tuberous
who is disabled.                                       age 53, Sonny lives in boarding
                                                                                                                                          sclerosis living in northern
                                                       care with five other residents                                                     California, has a dedicated
Sibling Support                                        and requires almost complete                                                         older sister who serves as
    The birth of a child with a                        care. As Sonny’s conservator,                                                         his conservator, making
disability or chronic illness has a                    Nancy makes decisions                                                                        all of his financial
                                                                                                                                                    decisions for him.
profound effect on a family. Children                  a b o u t h e r b r o t h e r ’s
must suddenly adjust to a sibling                      finances and medical
who, because of their condition, may                   care. She took on the
require a large portion of family time,                responsibility in
attention, money and psychological                     1995, shortly before
support. In any family, each sibling                   their mother passed
and each relationship siblings have is                 away. Every year a

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                           PERSPECTIVE                  12
                                                                         Ashyln Johns, 8, (center)
                                                                       knows what Morgan (left), her 5-
                                                                          year-old sister with TS, needs
                                                                           before the rest of the family.
                                                                       Here they are pictured with their
                                                                                                              require tactile stimulation; visual and
                                                                              1-year-old sister Camryn.       multi-sensorial experiences with a
                                                                                                              hands-on developmentally
                                                                                                              appropriate approach. Eye contact
                                                                                                              and descriptive word usage are helpful
                                                                                                              aids in developing better speech and
                                                                                                              expressive language skills. The
                                                                                                              responsibility lies on the teacher to set
                                                                                                              the stage for classroom acceptance of
                                                                                                              differences. The children she has had
                                                                                                              the opportunity to teach have brought
                                                                                                              her much joy and meaning to her life,
                                                                                                              while enhancing her teaching

                                                                                                              Reaching Out to
                                                                                                                   Coming to terms with a child’s
                                                                                                              capabilities and integrating those
different rates. That statement also                   Association for Retarded Citizens) in                  realities with parental dreams is a
holds true for children with                           the family’s state county.                             l o n g - t e r m i s s u e . Fa m i l i e s n e e d
developmental delays. As a result,                                                                            support from each other, as well as the
most states provide services to infants                Educational                                            children who are challenged. Ways of
or children that test at a 25 percent                  Partnership                                            getting encouragement and strength
delay in areas that include, but are not                     In addition to special care from                 are through community suppor t
limited to, fine and gross motor skills,               siblings and the community at large,                   groups. Below are a few that might be
speech and language, and/or cognitive                  the special education provided in a                    helpful:
abilities. The community program is                    classroom is of utmost importance in                   • Sign on to the TS Alliance Web site
referred to in most states as The Early                the growth of a child with disabilities.                  parent list serve at
Intervention Program or Program for                    Public Law 105-7, often referred to as                 • Connect with other caregivers at
Infants and Toddlers With Disabilities.                IDEA (Individual with Disabilities              
The ages for this program are birth to                 Education Act), is a federal law that                  • “Soaringwords: The Power To Heal”
36 months. If a family suspects that                   provides guidance to school districts                     is a Web site that may be helpful to
their child is delayed, they can request               a c r o s s t h e n a t i o n r e g a rd i n g t h e      both the young and old, parent and
the evaluation for services through the                education and related services that                       sibling -
above stated program or a professional                 must be provided to children and                       • Siblings may want to visit SibShops at
can refer the infant/child.                            youth with disabilities. IDEA requires          
    Before a child turns 3, another                    a “free appropriate public education”                     draising_1199.htm.
thorough evaluation is completed. If                   (FAPE) be available at no cost to
that toddler meets the criteria, they                  parents. Parents and schools work                          In summary, it does take a caring
can participate in a program that is                   together to meet the educational                       and informed family and an invested
referred to in most states as Child                    needs of each student that has been                    community to successfully raise a
Find or Program of Children With                       determined to be eligible for special                  child with disabilities. A plan needs to
Disabilities.                                          education and related services.                        be identified and appropriate
    Re s p i t e c a r e i s a n o t h e r s t a t e         Jill Dabbs is a teacher who has a                mechanisms in place to reach the
program/service that a family may be                   background in special education and                    goals of those individuals whose lives
interested in pursuing. The family                     has taught two students with TS.                       have been challenged.
must meet the criteria to qualify for                  Ac c o rd i n g t o Ji l l , s p e c i a l n e e d s
in-home supportive services. Services                  children who are in the mainstream                     Linda Creighton, M.S.W., L.C.S.W.-C., is program
are typically reviewed and considered                  classroom need additional care and                     manager for advocacy and outreach at the Tuberous
through The Arc (formerly the                          attention. Generally, students with TS                 Sclerosis Alliance.

  13      SPRING 2002                                                                                         Tu b e r o u s S c l e r o s i s A l l i a n c e
Community Alliances: Our
Movement is Growing
T    he Tuberous Sclerosis Alliance
     (TS Alliance) is proud to
announce that there are now six
                                                   STAMP OUT TS letter-writing
                                                   campaign for the spring. This group
                                                   is planning their first fall Golf Classic
                                                                                                     ticket sales for the DC Food & Wine
                                                                                                     Tasting event to be held Thursday,
                                                                                                     March 21, at the historic Postal
active Community Alliances. These                  for October 3 at Black Gold Golf                  Square Building. For more
local volunteer committees are busy                Club. The goal is to raise $180,000               information in getting involved in the
planning support groups, family                    gross. If you are interested in                   Metro DC Alliance, e-mail Julie
events, community fund-raising and                 becoming a sponsor or participating               Blum at
outreach and awareness activities for              in the letter-writing campaign,
2002. Below is a quick glance of                   contact Lee Ann Addison at
upcoming events and opportunities
for you to get involved locally:
                                                   (949) 495-7126 or by e-mail at
                                                                                                     New Alliances
                                                                                                     Being Formed
TS Alliance of the Dallas/Ft. Worth                TS Alliance of the Rocky Mountain                    In addition to the six alliances
Area is sponsoring a support group                 Region holds monthly support group                already formed, the TS Alliance
and family picnic at Scottish Rite                 and business meetings on the third                held organizational meetings for
Hospital on March 23 (10 a.m. to                   Saturday of each month at the                     the formation of four additional
1:30 p.m.) with babysitting                        Denver Children’s Hospital (noon to               Community Alliances, including:
available to those who participate.                2:30 p.m.). This alliance is looking
T h i s g ro u p i s a l s o l o o k i n g f o r   for interested local volunteers to                • TS Alliance of Central New Jersey
community volunteers to                            participate in the STAMP OUT TS                     on February 24 at the home of
participate in the STAMP OUT TS                    letter-writing campaign. For more                   Celia Mastbaum.
letter-writing campaign. For more                  information contact Becky Robison                 • TS Alliance of Atlanta/North
information, contact Tricia Bodnar                 at (303) 412-5553, or by e-mail at                  Georgia on February 24 (2 to 4
at                                        p.m.), hosted by Polly Hyatt.
                                                                                                     • TS Alliance of Metro New York on
TS Alliance of Northern California                 TS Alliance of the Upper Midwest                    March 9 at the home of Francine
is holding a family get together and               held their first community meeting                  Ostrow.
meeting on April 28 (12:30 to 3:30                 on February 9. They are planning                  • TS Alliance of New England on
p.m.) at the community center                      quarterly support group meetings,                   March 10, hosted by Elysa
adjacent to San Ramon's Central                    with the next to be held in April, and              Seymour.
Park. The meeting will focus on                    a family event planned for this
outreach efforts to area pediatricians             summer. They are seeking volunteers                   Leadership for the above
and TS Awareness Month in May,                     to assist on their community STAMP                Community Alliances will be announced
including recruitment of volunteers                OUT TS letter-writing campaign. For               in the June Perspective. For an update on
for the STAMP OUT TS letter-                       more information, contact Neil                    Community Alliance meetings and local
writing campaign. Contact Diane                    Strube at                 activities, please visit the TS Alliance Web
Burgis at (510) 538-0544 to RSVP or                                                                  site at and click on
e-mail Colleen Schleich at                         TS Alliance of Metro D.C. held an                 Community Alliances. If you are                               organizational meeting on January 13              interested in starting a Community
                                                   at the home of Julie Blum and Greg                Alliance in your area, contact Kari
TS Alliance of Orange County                       Linsin. Julie Blum has agreed to serve            Carlson, director of Community
holds monthly support group and                    as chair of the group and Donna                   Alliances, at (800) 225-6872 x 22 or send
business meetings the first Monday of              Banks will facilitate the Support                 an e-mail to
each month. They are recruiting                    Ne t w o rk . L o c a l vo l u n t e e r s a re
volunteers to participate in their                 focusing on helping solicit table and

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                   PERSPECTIVE              14
The Making of a Community
Leader                                                                                         Cindy and Jim Lynch own Jim’s Pride
                                                                                               Landscaping in Littleton, Colorado, and are
    C i n d y Ly n c h o f L i t t l e t o n ,   and others from her local community.          the proud parents of Haley (4) and Cole (2).
Colorado, started her active association         TS Alliance staff person Kari Carlson
with the Tuberous Sclerosis Alliance             attended the meeting and provided
(TS Alliance) soon after her daughter            insight and guidelines on how to start a
Haley was diagnosed with tuberous                Community Alliance. That was just the
sclerosis (TS), becoming a local support         beginning.
contact for parents more than two years              With the dedication of Community
ago. It was this past summer, though,            Alliance leadership - Dana Holinka,
after participating in the first STAMP           Clint and Denise Lovato, Shana Riley
OUT TS letter-writing campaign and               and Becky Robison – the TS Alliance of
attending the Second National Family             the Rocky Mountain Region was
Conference (NFC) that Cindy was                  formed. Today, they host monthly              involved the neurology department at
inspired to create the TS Alliance of the        support groups with featured speakers         Denver Children’s Hospital in outreach
Rocky Mountain Region and advocate               covering everything from behavioral           to local constituents and as a
for change in her local community.               issues, to organizing medical records, to     Community Alliance they are
    Prior to the NFC, Cindy had been             respite care. They have sponsored a           participating in the national Outreach
trying to organize a local support               holiday party family outing and are in        and Awareness Campaign. The winds
group. When she returned home, she               the process of planning their first           of change have definitely swept across
put together an organizational meeting           community STAMP OUT TS letter-                the Rocky Mountain Region.
with those that she had met at the NFC           writing campaign. Cindy has actively

Commedy For A Cure Gets Star Endorsement
                                                                                                                                 Patricia Heaton
    Three well-known actresses are               Cure. InStyle magazine, Variety magazine      the corporate sponsor
joining the efforts of the Tuberous              and American Medical Response are the         chair and Chris
Sclerosis Alliance (TS Alliance). Patricia       event’s major sponsors. The comedy            Sheffield heads the
Heaton, Jennifer Love-Hewitt and Alyssa          night event takes place April 28, from 7      live auction. The TS
Milano have agreed to host the Los               to 10 p.m. at the Laugh Factory, a            Alliance also extends
Angeles fund-raising event Comedy for            familiar spot on Sunset Boulevard that        its appreciation to
a Cure taking place Sunday, April 28.            has been graced by the appearances of         Mark Hyman, M.D.,
    Patricia Heaton is a two-time Emmy           Jay Leno, Robin Williams and Jerry            endowment fund
Award winner for her role in “Everybody          Seinfeld. The event will start with a         b o a r d c h a i r, w h o
Loves Raymond” on CBS. Jennifer                  private celebrity reception for event         originally brought
                                                                                                                               Jenniver Love-Hewitt
Love-Hewitt most recently starred in             sponsors. Comedian Andy Kindler will          volunteers together to
“Heartbreakers” with Sigourney Weaver            appear along with three comedians from        begin planning the
and the blockbuster feature “I Know              the Laugh Factory. Do not miss the live       event. For information
What You Did Last Summer.” She                   auction with items such as a basketball       on the event or to
gained recognition in her role on “Party         signed by the entire Washington Wizards       obtain tickets, call
of Five” and this summer stars in                team, including Michael Jordan, and the       the Christy Hobart
Dreamworks’ “The Tuxedo” with Jackie             opportunity to have breakfast with Larry      at ( 3 1 0 ) 8 2 9 -
Chan. Alyssa Milano appeared in                  King of CNN’s “Larry King Live” at            1640 or e-mail
“Who’s The Boss” for eight seasons and           Nate ‘N Al’s, a local landmark Beverly
currently stars in “Charmed” on the WB           Hills deli that has attracted a sizable       or visit the TS
                                                                                                                                  Alyssa Milano
Network. Alyssa has also offered to              celebrity following. Individual tickets for   Alliance Web site at
promote TS awareness through her                 the comedy night are $100.          
n u m b e r - o n e r a n k e d We b s i t e ,       Christy Hobart, TS Alliance Board                                  Member, and L.A. publicist Cece Yorke
    More than 30 Los Angeles-based               co-chair the event. David Mintz,
volunteers are organizing Comedy for a           former TS Alliance Board Member, is

 15      SPRING 2002                                                                           Tu b e r o u s S c l e r o s i s A l l i a n c e
W E L C O M E                                    TS SEVERITY                               our son matures, he should be made
                                                 D I S PA R I T Y                          aware of the 50 percent chance that
                                                 By Jon Evanoff
                                                                                           his children would have TS. Because
                                                                                           of the lack of severity, our son may
                                                     My exposure to tuberous sclerosis     have tended to discount the
                                                 (TS) began 40 years ago. However, my      significance of this recommendation.
                                                 deep interest and involvement in              O u r s o n m a t u re d , a t t e n d e d
                                                 earnest started in the mid-1980s.         college, married and had two children.
                                                     Our son was born in 1959, as the      The first exhibiting no signs of TS and
                                                 fourth of five children, into a career    the second, displaying infantile spasms
                                                 military family. At an early age, he      shortly after birth. Our exposure to TS
    Welcome again! We hope all who               exhibited what we now know as             alerted us to the potential of TS in our
read this section will gain some                 dermatological signs of TS. He never      grandson. A diagnosis was confirmed
insight into the myriad of feelings              experienced seizures, and although        and as he grew, it was obvious that he
experienced by folks whose                       these signs were discussed with           would be severely affected. Today, our
grandchildren have tuberous sclerosis            physicians, was never diagnosed with      grandson is 18 and requires 24-hour
(TS). As you read these articles, you
                                                 TS. During a routine school physical      care. My son has devoted his life to his
will also discover some of the ways
they have tried to make a difference in          in 1966, a physician advised us that he   son’s care.
the lives of their loved ones.                   believed our son may have TS. Upon            Our story is an example of the
    A good point in case is this issue’s         further examination at the Air Force      wide scale of severity of tuberous
article by Jon Evanoff. Having served            Regional Hospital, our son received a     sclerosis. After the birth of our
on the TS Alliance Board of Directors            confirmed diagnosis. Because he           grandson in 1983, I became quite
with Jon for many years, I well know
the impact his high interest, talent             experienced no seizures and had           active in the tuberous sclerosis
and efforts have made on his own                 normal intellect, he seemed to function   community and have met with and
family, Colorado families and the TS             as a normal child and teenager. Apart     am familiar with scores of individuals
community at large.                              from undergoing family genetic            and families. Based on our
    A l s o , a s y o u re a d a b o u t t h e   counseling and attempts to remove and     experience, it is important to be
tremendous progress in research
                                                 smooth his facial angiofibromas, little   supportive of your children while
funding as it relates to Congress and
the National Institutes of Health on             was unusual about his life.               instilling the need to be cognizant of
page 3, keep in mind that TS                         At the genetic counseling,            the potential of TS profoundly
grandfather Will Cooper has played a             however, we were cautioned that as        affecting their children.
lead role in that effort. There are so
many amazing and heartwarming
ways that a grandparent's love has
been translated into new hope!                   JUST ASK                                  opportunity to tell Hanna’s story. Gary
    As a grandparent to a child with                 Gary Haden of Fenton, Missouri,       described Hanna’s favorite activities
TS , Ke n a n d I l o o k f o r w a rd t o       is committed to communicating the         and shared the affects that tuberous
reading about and/or hearing from                affects of tuberous sclerosis to help     sclerosis has had on her life since being
others who share this very special
                                                 others understand the disorder.           diagnosed at infancy. “Hanna has
bond. Thanks Tuberous Sclerosis
Alliance for providing this venue!               Recently, Gary decided to approach        shown increased difficulty in talking,
                                                 his local Knights of Columbus consul      and when she starts to have a seizure
                                                 to request that a donation be made to     she stares off into space. It’s like she’s in
Please send me your questions,                   the Tuberous Sclerosis Alliance in        a world by herself.”
comments, suggestions and stories to:            honor of his 6-year-old granddaughter         The results of Gary’s willingness
Shonnie Johnson                                  Hanna Henske. “I keep hoping for a        to share his experiences and feelings
11776 Stratford House Place                      cure for Hanna’s future, and I was        about Hanna’s fight with TS led to a
Unit 1309
                                                 glad to try and help.”                    $1,800 donation by the Knights of
Reston, VA 20190
Phone: (703) 456-0248                                In the October meeting of the         Columbus. He stands as a bold
Fax: (703) 456-0221                              Knights of Columbus, after two            reminder to each of us that there are
E-mail:                         requests, Gary was given the              many ways to contribute.
Does Your Family Need Respite Care?
                                                                                                   Respite Care
T     he discovery that a child has
      been born with a disability or
chronic illness has profound effects
                                                 his or her own personality and ideas.
                                                 In many families, it is common for
                                                 children to attend day care or after-
                                                                                                   Suggestions for Parents
on a family, and parents must begin              school care, interact with peers and                  Parents deciding to leave their
a process of lifelong adjustment.                adults outside the family, and stay               special needs child in the care of
Adjustment is characterized by                   with a child care provider while their            someone else, either in or outside
periods of stress, and during this               parents enjoy an evening out.                     their home, may experience a variety
time family members’ individual                  Respite provides these same                       of hesitations. It is important that as
feelings of loss can be overwhelming.            opportunities for children with                   a parent you become comfortable
Coping with uncertainty about the                special needs.                                    with your decision and develop the
child's development may interfere                    For older individuals with a                  trust critical to maintaining the peace
with the parents’ ability to provide             disability, respite can assist in                 of mind necessary for relaxation and
support to each other and to other               building skills needed for                        enjoyment. One way to accomplish
family members.                                  independent living. Since the most                this goal is to begin now to think
     The growing awareness that                  appropriate living situation for                  about respite care and whether you,
adjustment to the special needs of a             many adults with a disability is in a             your family, and your child with
child influences all family members              group home or other supported                     special needs would benefit from it.
h a s l e d t o t h e d e ve l o p m e n t o f   environment, out-of-home respite                      Many agencies and organizations
support ser vices for families to                care can enable families to test this             have information on respite care
assist them throughout the lifelong              option, explore community                         services. For a referral, contact the
adjustment process. Within the                   resources and prepare themselves                  National Respite Locator Service,
diversity of family support services,            and their family member with a                    operated by the ARCH National
families consistently have identified            disability for this change.                       Resource Center, at (800) 773-5433.
respite care as a priority need.                     St a t e s a n d c o m m u n i t i e s a re   In g e n e r a l , s e e k o u t g r o u p s o r
     Respite care is an essential part           recognizing that respite care also                professionals who work with children
of the overall support that families             benefits them. On average, the costs              your child's age. For example, if your
may need to keep their child with a              for respite services are 65 to 70                 child is in preschool, contact the
disability or chronic illness at home.           percent less than the costs of                    school and discuss the need for respite
It can be provided in the client's               maintaining people in institutions.               care with the staff. If there is a parent
home or in a variety of out-of-home              The cost effectiveness of respite                 group associated with your school, or
settings. Since not all families have            services allows scarce tax dollars to             if there is a local parent group
the same needs, respite care should              be used for additional community                  concerned with children who have
always be geared to individual                   based services. During the previous               needs similar to your child's, ask them.
family needs by identifying the type             decade, more than 30 states passed                    Here are a few of the organizations
of respite needed and matching the               legislation for in-home family                    you can contact for respite care
need to the services currently                   support services, including respite               services: State Department of Mental
available, or using this information             care, using either direct services or             Retardation, State Developmental
to develop ser vices where none                  voucher systems.                                  Disabilities Council, The Arc, United
exist. Once identified, it is also                   With the passage of the                       Cerebral Palsy Associations, Inc., and
important for families to have ready             Children's Justice Act (Public Law                Parent Training and Information
access to that type of respite in an             99-401) and its amendment, the                    C e n t e r. T h e s e a n d m a n y o t h e r
affordable form.                                 Children's with Disabilities                      organizations will be listed in your
     Regardless of the type of respite           Temporary Care Reauthorization                    telephone book. If you experience
program utilized, the emphasis                   Act (PL 101-127), respite care has                difficulty locating an organization in
should be on orienting services                  gained support at the federal level.              yo u r c o m m u n i t y, o f t e n a s t a t e
toward the entire family. It is also             This legislation authorized funding               contact can be made.
important to bear in mind that the               to states to develop and implement
child will change as he or she grows             affordable respite care programs and              This is an adapted article from the Autism-PDD
and develops into an individual with             crisis nurseries.                                 Resources Network Web site,

 17      SPRING 2002                                                                               Tu b e r o u s S c l e r o s i s A l l i a n c e
Announcing the ‘Life Stages
Guide Program’
C     oping with the day-to-day
      experiences of parenting a child
with special needs can be a challenging
                                                   through valuable resource inform-
                                                   ation organized by life stage—early,
                                                   school, teen and adult years. The
                                                                                                      download from the TS Alliance Web
                                                                                                      site. A brochure describing the guides
                                                                                                      will be available at the end of the year
undertaking. Sifting through the                   information will also be easily                    and distributed to members,
mountains of information that exist and            accessible, available both in print and            nonmembers and other organizations
making sense of how and where to                   electronically. As the program is                  as appropriate.
obtain the services your child needs at            implemented, the TS Alliance will                      The TS Alliance is excited about
any given time can, at times, seem like            also partner with other organizations              the “Life Stages Guide Program” and
chasing a moving target. Whether the               to reach individuals who could                     welcomes your input. If you have a
need is for educational, social or                 potentially benefit from this                      specific non-medical problem that
vocational information, searching for it           information but may not be aware of                has been especially difficult to work
can be a time-consuming task, especially           the TS Alliance.                                   through, we would like to hear from
for parents whose time and resources are                Raising a child with a disability is          you. In addition, if you have found a
already stretched to the limit.                    often likened to a journey or voyage.              resource that was especially helpful,
    The Tuberous Sclerosis Alliance                Utilizing this analogy, the “Life Stages           let us know that as well so we can
(TS Alliance) responds to approx-                  Guide Program” addresses the four                  share the information with others!
imately 400 requests a month for                   stages of life. Listed at the end of this          For more information about the “Life
“non-medical” information from                     article are examples of the kinds of               St a g e s Gu i d e Pro g r a m” , p l e a s e
individuals with tuberous sclerosis                information that will be included in               contact Rachel Loock, program
(TS) and their families. Currently,                each guide. The guides will also                   coordinator, at (800) 225-6872 or
responses are filled using “Fact Sheets”,          include additional resources (Web                  e-mail to
pamphlets, books, and other resources              sites, publications, books, videos,
to provide the information requested.              etc.) specific to each age range.
    We will continue to respond to                      Based upon the number and type                Rachel Loock Joins
these inquiries in a timely fashion,               of inquiries received from the TS                  TS Alliance
however, the TS Alliance is embarking              c o m m u n i t y, a d d r e s s i n g a d u l t
upon on a new program. The “Life                   challenges can often be the most                        The Tuberous Sclerosis Alliance (TS
Stages Guide Program” will provide                 frustrating life stage for people with             Alliance) is pleased to welcome its new
detailed information to people with                TS and their families. Therefore, the              program coordinator Rachel Loock. Rachel’s
TS and their families to assist them               Adult Years Guide will be completed                primary job will be researching and building
                                                                                                      a state and national library of information
with the non-medical challenges                    first (available at the end of March).
                                                                                                      and resources through the organization’s new
most commonly experienced by                            The remaining three guides will               “Life Stages Guide Program” (see above).
people whose lives have been affected              be completed (in descending order by               She will also be working closely with the
by TS in a more comprehensive and                  age) by Fall 2002. Once completed,                 Director of Medical Alliances and the
useful format. It will achieve this                the guides will be available for                   Program Manager for Advocacy and
                                                                                                      Outreach, contacting government entities
                                                                                                      and other organizations for up-to-date
 LIFE STAGES                                       EXAMPLES OF INFORMATION TO                         program information, identifying federal
                                                   BE INCLUDED                                        and state funding sources, identifying
Starting the Voyage – The Early Years                                                                 partnership opportunities with other
(Ages 0-5)                                         Obtaining early intervention services,             agencies, and identifying specific resources
                                                   educational rights & parent support groups         available to people with TS in each state.
Staying the Course – The School Years
                                                                                                           Prior to joining the TS Alliance, Rachel
(Ages 6-13)                                        Obtaining special education services, strategies
                                                   for developing effective individual education      was marketing manager for a consulting
                                                   programs (IEP’s), children support groups          firm, providing marketing and
All Hands on Deck – The Teen & Young                                                                  communication services to the federal
Adult Years (Ages 14-21)                           Education, relationships, future planning,         government. She also has a wide range of
                                                   housing, financial planning                        marketing management experience from
Setting Sail – The Adult Years                                                                        both the nonprofit disability and association
(Ages 21 and above)                                Work or college options, relationships,            sectors. You can contact Rachel through e-
                                                   genetic counseling, accessing benefits, aging      mail at or call
                                                                                                      (800) 225-6872.

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                     PERSPECTIVE              18
Kids                                                                                 Coming Up…
                                             1 • Are you a good writer? Write a      TS Alliance to be Represented
Corner                                       story for your local newspaper
                                             about your experiences of living
                                                                                     at LAM Conference
                                                                                     The Tuberous Sclerosis Alliance (TS Alliance) will be
                                             with TS or those of a friend.           represented by Center Without Walls (CWW) researchers at
                                             Request that the article be printed     the LAM Foundation Research Conference in Cincinnati,
Take Action,                                 in the paper. At the end of your        Ohio, March 22-24, reports CWW director Vicky
                                                                                     Whittemore, Ph.D. Elizabeth Petri Henske, M.D., a noted
                                             article, request that readers send in
Become a TS                                  donations to the Tuberous Sclerosis
                                                                                     scientist from the Fox Chase Cancer Center in Philadelphia
                                                                                     and recent recipient of the TS Alliance Rothberg Award for
Champion                                     Alliance in honor of the person         Courage in Research, is one of the co-chairs of the event.
                                                                                     CWW researcher Dicky Halley, Ph.D., from Erasmus
                                             you write about.                        University in Rotterdam, The Netherlands, will join
TS Champions is a new program
                                                                                     researchers from around the country to speak about the
that has been created to honor               2 • Have a babysitting club! This       connection between the TSC2 gene and LAM. The LAM
children and teenagers who are               might require an extra boost of         Foundation will have a summary of the conference on their
supporting the Tuberous Sclerosis                                                    Web site at
                                             energy, but get a couple of your
Alliance (TS Alliance). There are
many caring young volunteers
                                             friends together and give parents       May is TS Awareness Month
                                             you know (your parents, relatives,      Following President Reagan’s signature in 1988 to a
a r o u n d t h e c o u n t r y w h o a re   their friends, neighbors) a night       resolution declaring May 8-15 as National Tuberous Sclerosis
raising money and awareness for                                                      Awareness Week, the TS Alliance dedicates the entire month
                                             out. Ask for donations instead of       of May for raising additional awareness about the many
the organization. For those who              them paying you for your services.      aspects of the disorder. The organization is kicking off the
send in at least $200 in donations                                                   month with the STAMP OUT Tuberous Sclerosis letter-
will receive a special certificate           If you have more ideas on how to        writing campaign for those who would like to help raise
recognizing their efforts and their                                                  funds for the TS Alliance to produce family support services,
                                             raise awareness and funding to          research and outreach programs (see the ad on page 21). Take
story placed on the TS Alliance              support the TS Alliance, we’d love      time this month to raise awareness in your community.
Web site (               to hear from you. Send your ideas
                                             to Carmen Petty by e-mail at
Here are just two ways you can
help. There are more ideas on the
                                    or call
                                             (800) 225-6872.
                                                                                     This ‘N That
TS Alliance Web site.                                                                Identical Twins Needed for
                                                                                     Research Study
                                                                                     David Kwiatkowski, M.D., Ph.D., and other physicians from
                                                                                     Brigham & Women’s Hospital in Boston are seeking identical
                                                                                     twins with tuberous sclerosis (TS) to conduct a research study
Did you Know                                 • A bee flaps its wings 350 times
                                                                                     investigating the genetic basis of variability in clinical
                                                                                     manifestations of TS. Review of medical records, contact with
that. . .                                    per second?                             treating physicians, and a blood sample for examination of
                                                                                     mutations in the TS genes will be required.
• Tuberous sclerosis was given its           • Unlike other planets in the solar          For more information, or if you are willing to
                                                                                     participate, please contact:
name by a doctor in 1879?                    system, Venus spins from East to             Brigham & Women's Hospital - Harvard Medical
                                             West?                                        School / Genetics Laboratory, Hematology Division
• Most lipsticks contain fish scales?                                                     Attn: Dr. David Kwiatkowski
                                             • Pieces of bread were once used to          221 Longwood Avenue
• Ninety-nine percent of all forms
                                             erase pencil lead before rubber              Boston, MA 02115
of life that have existed on Earth at                                                     Phone: (617) 278-0384
                                             came into use?
some point in time are now                                                                E-mail:
extinct?                                     • Coca-Cola would be green if
                                             coloring weren't added to it?           TS Alliance Web Site Changes
• Owls are one of the only birds                                                     In case you have not had the opportunity to browse through
that can see the color blue?                 • Lettuce is a member of the            the TS Alliance Web site lately, now is a good time to look at
                                                                                     our latest improvements. With new topics and drop down
                                             sunflower family?                       boxes added to the left navigation art, locating information
• Po t a t o e s w e r e b a n n e d i n
                                                                                     and updates is much simpler. A new online community is
Burgundy, France, in 1910 because            • Rice is the primary food eaten by     available for parents and caregivers. Many of the TS Alliance
they were believed to cause leprosy?         half the world's population?            “Fact Sheets” are available for download and a section has
                                                                                     been added just for kids at Kids Corner, among other
• The largest recorded whale is a            • Man was without sugar until the       additions. Go to the Web site today at
male Blue Whale captured near the            13th century?
South Shetland Islands in 1926? It                                                   Another Outreach Opportunity
                                             • The eyes of a giant squid can be      The first national Outreach and Awareness Campaign
was 107 feet plus 1 inch long!                                                       continues with a focus on its first quarter activities, the
                                             up to 10 inches across, about the
• A dog named Laika was the first            size of a volleyball?                   distribution of updated TS Alliance materials to neurologists.
                                                                                     During the second quarter activities (April - May), volunteers
living creature ever sent into space                                                 will distribute materials on TS to pediatricians. If you have
in 1957 by the Soviet Union?                                                         volunteered already, look for your materials by April 1. If you
                                                                                     would like to volunteer, contact Kari Carlson at (800) 225-
                                                                                     6872 x 22 or by e-mail at

 19      SPRING 2002                                                                      Tu b e r o u s S c l e r o s i s A l l i a n c e
Special Events                                                 communicate their
                                                               feelings, anxieties, and
                                                                                                         and time to this event. It is heart-
                                                                                                         warming to see what we can
                                                   questions with others that shared the                 accomplish when we all pull together
                                                   same challenges.                                      as a team.
Holiday Lights                                         We would like to extend our                           Some of you were worried and
Spectacular                                        thanks to all those who helped make                   expressed your concerns to me that
                                                   this event a memorable one. We are                    your orders might be too small. The
   The Holiday Lights Spectacular at               especially grateful for the support of                amount raised should put those fears
the PNC Bank Arts Center in                        Dominic Roncace of Clear Channel                      to rest. Every order was important in
Holmsdel, New Jersey, held it's                    Entertainment, Tim McCloone of                        this campaign, regardless of the size.
fourth annual celebration from                     Holiday Express, and Andrew Bott, a                       I would like to extend a very
November 17 through January 1,                     TS Alliance Board Member and long                     special thanks to the following TS
displaying 130 characters adorned                  time supporter. Bott was presented a                  Alliance supporters for working so
                                                   check for $10,474, on January 31                      hard to be this year's top sellers: Chris
Left to right: Dominic Roncace, father of a TS
child, and TS Alliance Board Members Andy
                                                   from proceeds of the holiday event to                 Bens (KS), Darlene Franzone (MA),
Bott, Frank Gallagher and Marc Shapses, were       benefit the TS Alliance mission to                    June Martin (MN), Christine Miles
“Disco Santas” at the opening ceremonies of the    find a cure for tuberous sclerosis.                   ( WI), Beth Peloso (NY ), Elysa
Holiday Lights Spectacular event in New Jersey.
                                                                                                         Seymour (MA), Nicola Snoep (FL),
                                                                                                         Sandy Strong (MN), Julie Valdez
                                                                                                         (CO), and Cathy Zardas (MA).
                                                   Gift-Wrap                                                 I am extremely grateful to Darlene
                                                   Campaign 2001                                         Franzone who was our number one
                                                                                                         seller again this year. Darlene, thank
                                                       Milly Augustine, Gift-Wrap                        you so very much for your dedication.
                                                   Campaign chair, writes: On behalf of                  Thanks also to Becky Bull, vice
with more than a million lights. This              the TS Alliance, I want to thank those                president of development and
year the Tuberous Sclerosis Alliance               of you who participated in the annual                 communications at the TS Alliance,
(TS Alliance) was fortunate enough                 Gift-Wrap Campaign. This year's                       who gave me support and many
to be one of three organizations                   campaign revenue exceeded that of                     mental hugs from 3,000 miles away.
benefiting from event proceeds.                    a n y p r e v i o u s y e a r, r a i s i n g              I am extremely proud to be part of
     In addition to being a benefactor,            approximately $100,000 to benefit                     this organization and proud of each
the TS Alliance was honored at the                 the TS Alliance. The accomplishments                  one of you who helped make this
e v e n t ’s o p e n i n g c e r e m o n y o n     were in large part due to the many                    event a success. Have a safe and
November 17. The TS Alliance made                  participants who devoted their energy                 healthy year.
great strides in raising public
awareness about tuberous sclerosis
( TS ) a t t h e e v e n t . A t a b l e w a s
                                                   Turner Construction Company employees from New Jersey donated $10,000 to the Tuberous Sclerosis
arranged for the organization, giving              Alliance through fund-raising efforts of the company’s softball team. The donation was presented to Turner
staff members the opportunity to                   employee David Ritchie (middle), pictured here with (left to right): Russ Johnson, Turner softball team
                                                   member; Becky Bull, TS Alliance vice president for development and communications; Chuck Appet,
meet New Jersey area members who                   Turner softball team member; Frank Gallagher, TS Alliance Board Vice Chair; Dennis Delisle, Turner vice
were invited to attend, to distribute              president; David’s wife Sadie; and Turner softball team members Ryan West, Dan Shea, Tom Seaman and
informational brochures, and to                    Dave Hilts. The donation was made in honor of David’s daughter Christine (front).
speak to many who had never heard
of the disorder. Several area members
shared their personal stories with
visitors to help spread the message.
     Pe r h a p s t h e m o s t v a l u a b l e
advantage to the event for TS Alliance
members and families was the
opportunity for parents and
individuals affected by tuberous
sclerosis to join together, to share
their experiences and support one
another. Some expressed that for the
first time they were able to

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                         PERSPECTIVE                20
Useful Resources                                                                                                        Tuberous Sclerosis
                                                                                                                        Alliance Staff
                                                                                                                        contact Information
                Books                                            Web Sites                                              All TS Alliance staff members can
                                                                                                                        be reached at the toll-free office
                 Title: Who Put The Snarfdoodle In               Source:           number (800) 225-6872, locally at
                  My Lunchbox?                                   Title: Children With Disabilities:                     (301) 562-9890, or through their e-
                  Forword: Liput, Andrew L.                      Understanding Sibling Issues                           mail addresses. They are happy to
                   Source: 100 Brickell Bay Drive,               Abstract: For many families, raising a child with      assist you in finding additional
                                                                                                                        resources and answer any questions
                   Suite 2310, Miami, FL 33131.                  a disability poses many challenges. Some of these      you may have.
                    To order, call (877) 369-2665 or             challenges focus on the relationship between the
                    e-mail                siblings in the family, which influences               Michael Coburn
                                                                                                                        President and CEO
Abstract: A compilation of 12 children stories                   the social, psychological and emotional      
a b o u t t h e l e g e n d a r y Sn a r f d o o d l e . T h e   development of each child. Guidelines and
captivating children’s book is filled with fun and               suggestions for parents and siblings, and siblings’    Vicky Whittemore, Ph.D.
whimsical stories with an infectious rhythm and                  suggestions for parents are discussed in this          Director, Center Without Walls and
                                                                                                                        Senior Science Advisor
rhyme, and educational in nature. Although this                  publication.                                 
book is not specifically targeted to children
with special needs, the author is giving part of                 Source:          Becky Bull
                                                                                                                        Vice President of Development and
the proceeds to the TS Alliance.                                 metdesk_2.htm                                          Communications
                                                                 Title: Financial Planning: What You Should             Fund-raising programs, major gifts,
           Title: The Fearless Caregiver: How To                 Know About Government Benefits For People              special events, membership and
                                                                                                                        volunteer program
            Get The Best Care For Your Loved One                 With Disabilities                            
            And Still Have A Life of Your Own                    Abstract: The Web site describes government
             Author: Edited by Barg, Gary                        benefits, who is eligible and the criteria that        Kari Luther Carlson
              (Editor-in-Chief, Today’s Caregiver                qualifies individuals who have disabilities.           Director of Community Alliances
                                                                                                                        Volunteer committee development
              magazine)                                                                                                 and major gift fund raising
               Source: Capital Books, Inc.: P.O.                 Source:                 ,
                Box 605, Herndon, VA 20172-0605                  (A Spanish version is also available.)                 alternate phone: (763) 434-3455
                Abstract: This book helps to                     Title: Healthfinder-Your Guide To Reliable             Linda Creighton, M.S.W.,
                 define a caregiver’s vital role in              Health Information                                     L.C.S.W.-C.
                 developing a loved one’s care plan              Abstract: A free guide to reliable consumer            Program Manager, Advocacy and
and becoming an advocate to ensure that she or                   health and human services information,                 Outreach
                                                                                                                        Patient and family advocacy and support
he receives the best care the system has to                      developed by the U.S. Department of Health   
offer–and still have time for yourself.                          and Human Services. The site can lead you to
                                                                 selected online publications, clearinghouses,          Jackie Heimbuch
             Title: You Will Dream New Dreams:                   databases, Web sites, and support and self-help        Finance and risk management
             Inspiring Personal Stories By Parents               groups, as well as government agencies and   
              Of Children With Disabilities                      nonprofit organizations that produce reliable
                                                                                                                        Holly Knorr
              Author: Klein, Stanley, Ph.D.;                     information for the public.                            Director of Medical and Scientific
               Schive, Kim (Forward by                                                                                  Alliances
               Thornburgh, Richard)                              Professional & Parent Guide                            Grants administration, tissue donation
                Source: Kensington Books,                                            Title: “Floor Time: Tuning         program and professional education
                People With Disabilities: P.O.                                        In To Each Child”
                 Box 470715, Brookline, MA                                            Author: Hanna, Sheila;            Rachel Loock
                 02447-0715                                                           Wilford, Sara (Foreword           Program Coordinator
                                                                                                                        “Life Stages Guide Program,” state
               Abstract: A book about human                                            by Brodkin, Adele M.,            and national resource identification
connections, hope and encouragement. Veteran                                           Ph.D.,)                
parents who have “been there” reach out to parents                                     Source: Scholastic Inc.,
who have recently learned that their child has a                                       Early Childhood                  Beth Michaels
                                                                                                                        Director of Communications
disability or a special health care need. They share                                    Division: 730 Broadway,         Publications, media relations,
words of validation, affirmation and support.                                           New York, NY 10003              communications and Web
                                                                                        Abstract: The program           development
Catalogs                                                                                includes a videotape,
Title: “Danmar Products: Special Products for                    developmental chart, professional guide, parent        Carmen Petty
Special Needs Since 1968”                                        and teacher handouts, and original source              Development Assistant
                                                                                                                        Donor acknowledgment and gift
Source: Danmar Products, Inc.: 221 Jackson                       material by Stanley Greenspan, M.D.,                   processing
Industrial Drive, Ann Arbor, MI 48103;                           renowned child psychiatrist and early childhood
Phone (734) 761-1990 to request a catalog or                     consultant. The Floor Time program offers
place an order.                                                  opportunities for one-on-one training, staff           Linda Rogers
                                                                                                                        Executive Assistant to the President
Abstract: Danmar Products, Inc. is formed for                    orientation and community workshops. The               Administrative support to board of
the purpose of the invention and the creation                    program will enhance the understanding of              directors and president
of specialty equipment that can be used to                       those who work with children and their       
encourage participation of individuals with                      responsibility to them.
special needs in many of life’s activities.

Tu b e r o u s S c l e r o s i s A l l i a n c e                                                                       PERSPECTIVE              22
Memorials                      (October 31, 2001 – January 31. 2002)
Contributions are given to the Tuberous Sclerosis Alliance at the request of family
members in memory of their loved ones. We extend our sympathies to the family and
friends of those memorialized below. These generous contributions support the
progress of our mission to find a cure for tuberous sclerosis.                                                  Endowment
Mary Alford                   Howard Harris                 Freida Plissner                                     Fund Chair
Mac Andersen
Soren Andersen
                              Martin L. Harwood
                              Gus E. Hill
                                                            Arlington M. Rose
                                                            Mary L. Rossetti
William David Bauer           Ronald Hill                   Minnie Salcito                                      Mark Hyman, M.D.
Paul Behm                     Cynthia R. Holman             Adam G. Scott
Mrs. Bloom                    John Ingalls                  Martha Seelbinder
Mary Bottini
Stella M. Call
John Callahan
                              Madeleine J. Johnson
                              Ruth Kowalis
                              Jane Krantz
                                                            Franklin Siden
                                                            Mrs. Smolkin
                                                            Woodrow W. Summers
                                                                                       M       any people give annual outright gifts
                                                                                               to charities, getting a tax deduction
                                                                                       at the end of the year. For instance, if you
Carrie Cooper                 Irene Levanthal               Frieda Susskind            give $100, then you would claim a $100
Rachel Corbett                Anna Marie Lutz-Bottecelli    William L. Swartz          deduction on your tax return. If you give a
Reverand James Cross          Juanita Lynch                 William M. Taylor
Frances B. Davis              Joan Marcus                   Paul Tonyan                gift of stock or a valuable object, you
Dorothy Deward                Mrs. Merling                  Earl Van Hise              would get a deduction equal in value to the
Paul Freireich                Edward A. Mlynarczyk          Beatrice Wacht             gift. However, what if you want to give a
Jeppie A. Gallalee            Kenneth Morris                Dwight Williams
Sylvia George                 Louis Nelson                  Roger J. Wood
                                                                                       gift but do not want all the deduction to be
Judy Griffis                  Frances Nystrom                                          taken in the same year? What if you have a
                                                                                       gift but would prefer not to give it all at
                                                                                       once? The law provides for such cases. It’s
Honorariums                       (October 31, 2001 – January 31. 2002)                called an annuity.
You can honor a friend or family member for an important occasion with a gift to            For example, if you were to give a
the TS Alliance. It is a wonderful way to send a birthday or anniversary wish, or      $10,000 annuity gift, each subsequent year
congratulations for retirement, a job well done, graduation, etc. Please include the   you would receive an annuity payment.
name and address of the individual being honored so that acknowledgement of            This annuity amount, which is determined
your kind donation can be sent.
                                                                                       by your age and how you deduct the
Robinson G. Adams             Anne Heilman                 Jon D. Piotrowski           amount given, would equal about $850. In
David C. Anderson             Carol Herscot                Michael Pollard             the year that you make the gift, you would
Mackenzie L. Arndt            Alaina Hope                  Jack Poutasse               still have a tax deduction, however, the
Michael Aroney                Brad Hopkins                 Joel Ratner
Chase Banner                  Hannah L. Hoslet             Casey Revman                amount is not $10,000 but about $4,700.
Xavier Barr-Malec             Christine Huey               John Richards               The amount that you deduct, and the
Virginia P. Boswell           Harris Huey                  Christine Ritchie           amount of the annuity, is determined by
Bill Brown                    Marion Huey                  Kevin Robinson              your needs. Your tax planner has tables that
Bubak                         Quentin Huey                 Jonathan Rochmann
Nancy Carroll                 Benjamin Hutchinson          Lisa Romero                 dictate exactly what is permissible.
Faith & Kimberly Chadderdon   Foster E. Hyde               Anna Russell                     Once the annuity is set up, you get a
Nicholas P. Chess             Marybly Jennings             Kaitlyn R. Sabedra          lifetime of payments. You can even set it
Abigail & Amelia Cooper       Carl E. Jensen               Nalani A. Scanlon
Rachel A. DaCruz              Annie Johnson                Lori R. Scott               up so that more than one person gets
Christopher Daly              Ken & Shonnie Johnson        Benjamin Shapiro            annuity payments. What’s also helpful is
Karissa Kay Diagneault        Hayden A. Joyce              Emmory R. Shapses           that the annuity payments to you are, in
Jeremy Elias                  Kory Kowalis                 Sarah Shelly                part, not taxed. Also, if you wanted to
Clinton Estling               Lauren E. Krinsky            Meghan J. Sirinek
Ayrington Fancher             Mr. & Mrs. Les Kirschner     Ethel Slayen                ensure a stream of money to someone, but
Molly Feder                   David Labbe                  Hampton Sprinkle            still need a tax deduction, you get both.
Kristen Fink                  Paul Leist                   Danielle Stammelman         When you, or the person you designate to,
Maria Gangwisch               Hannah Linsin                Julia Steenman
Phillip Gangwisch             Mort Liquorman               Erica R. Sullivan
                                                                                       pass away, the money left over goes to the
Tyler Gangwisch               Heather & Vivian Little      Shae Sunahara               organization you have chosen.
Tiara Goff                    Ellen Lubbers                Emily B. Szilagyi                The Tuberous Sclerosis Alliance
Meagan Golden                 Pearl G. Marion              Chandlee Taylor             Endowment Fund Board is currently
Cary C. Gradia                Genie Matthews               Andrea Todd
Andrea Gray                   John P. Matthews             Andrew R. Trundle           managing a number of annuities. Our
Kirby Griffis                 Peter A. Meredith            Jay P. Wareham              annual payments to the various
Deanne J. Guy                 Harrison R. Miles            James Watson                beneficiaries currently totals about
Brandon Hargreaves            Davya Miller                 Drew Welk
                                                                                       $25,000 per year. Feel free to contact
Anne Byrne Harwood            Olivia A. Moore              Brandon Wilbanks
James Harwood                 Joe Morgan                   Christine Wilkinson         Becky Bull, vice president of development
Joseph Harwood                Katie Munneke                Matthew Wilkinson           and communications, at the TS Alliance
Judy Harwood                  Laura Palmer                 Maury Wilkinson             with questions about any planned giving
Thomas J. Harwood             Eric Parkes
Valerie Harwood               Marlee Phillips                                          activities: (800) 225-6872.

 23      SPRING 2002                                                                      Tu b e r o u s S c l e r o s i s A l l i a n c e
   Members of the Tuberous Sclerosis Alliance are a viable force in the ongoing fight against
   tuberous sclerosis. Your voices help us make change.

   Annual membership and gift membership contributions enable the TS Alliance to:
    Appeal for additional federal and corporate funding for TS research
    Provide necessary resources to the medical community for the better care of those affected, and
    Provide information and support to affected families across the country

   As we become united in our crusade to fight tuberous sclerosis, our voices resound across
   the country, creating awareness of TS. Please fill out the envelope between pages 12 and
   13 and have your voice be heard.

                                                                                       U.S. Postage
                                                                                       Capital Hts.,
801 Roeder Road, Suite                                                                      MD

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