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									Tuberous Sclerosis Alliance

                                                               Summer 2002 | Volume 97

         inspiring                                              caring

         helping                                               supporting

page 8            page 11                        pages 14-15
                                                                                     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

                                                                                     I   t is hard to believe that it was five years ago when I
        Web site:

   Summer 2002 • Volume 97                                                               first made contact with the Tuberous Sclerosis
             Michael J. Coburn,                                                      Alliance (TS Alliance). This was soon after my now 6-
                 President and CEO

               Marybeth Leongini                           year-old son Robin was diagnosed with tuberous sclerosis (TS). As I sit here at
                 Managing Editor,
            Director of Communications                     the end of my two-year term as chairman of the TS Alliance Board of Directors,
                Beth R. Michaels                           I have mixed emotions, but definitely a great deal of satisfaction about the status
                Contributing Editor,

If you have opinions, questions or articles for
                                                           of the organization.
Perspective, we would like to hear from you. Please
contact the managing editor to obtain a Submissions            The TS Alliance became a major part of my family’s life and helped us in so
Form and Guidelines.
                                                           many ways. It started with that first contact when we found out that we were
Perspective is intended to provide basic information
about tuberous sclerosis. It is not intended to, nor       not alone and that there was hope. Since that time, we have gotten information,
does it, constitute medical or other advice. The
Tuberous Sclerosis Alliance (TS Alliance) does not         support and help during times when we thought it just could not get any worse.
promote or recommend any treatment, therapy,
institution or health care plan. Readers are warned not
to take any action without first consulting a physician.   We also have a new network of friends with whom we share a very special bond.
Commentary expressed herein reflects the personal
opinions of the author and does not necessarily reflect    This organization has definitely made this journey a little bit easier.
the official views of the TS Alliance. Information
contained in the TS Alliance database is confidential          I am amazed at what the TS Alliance is doing today compared to five years
and not provided nor sold to third parties.
                                                           ago. I have seen the organization celebrate its 25th anniversary. I have seen us put
Perspective is published quarterly by the National
Tuberous Sclerosis Association, Inc. d/b/a Tuberous
Sclerosis Alliance, a 501(c)(3), charitable
                                                           on two very successful National Family Conferences. I have attended scientific and
organization. ©Copyright 2002 by the Tuberous
Sclerosis Alliance. All Rights reserved. Materials may     medical meetings with the top professionals in TS, as they were envisioning the
not be reproduced without written permission.
Direct requests for reprint permission to the              future and helping set a protocol to further guide the organization.
managing editor.
                                                               We have successfully found two genes that cause this disorder. We are
               Board of Directors
           Marion S. Adams III, Chair                      funding more research than ever, as well as causing more research to happen. We
           Frank Gallagher, Vice Chair
              David Parkes, Secretary
            Celia Mastbaum, Treasurer                      have Congress and the National Institutes of Health interested in TS. We have
           Belinda Phillips, Past Chair
                 Thomas Bologna                            more information, more services and more programs than ever. We have more
                    Andrew Bott
           Elizabeth Buchsbaum, Esq.                       individuals serving as volunteers, and we have put together a dedicated,
                   Chris Dinsdale
                   Charles Eggert                          committed and professional staff that make us all proud.
                     Craig Elias
                 L. Andrew Fleck
                    Kathy Groves
                                                               I want to thank all of you for the inspiration and support you have given
                   Carol Herscot
                  Christy Hobart                           me in the last couple of years. My work with the TS Alliance has been a major
                Yukari Iwatani Kane
                   Scott Johnson                           time commitment that certainly has had an impact on my work colleagues as
         David Kwiatkowski, M.D., Ph.D.
               Susan Lamont, Ph.D.                         well as my family. I came to this organization because of Robin. However, I
                   Carol Michael
                 Mary Jane Mudd                            have been driven not only by him, but by many of you that are battling this
              Hope Northrup, M.D.
          Bonnie Gould Rothberg, M.D.
                    Chris Russell                          disorder every day. This is definitely a team effort, and we are certainly more
                    David Scott
                    Marc Shapses                           powerful in numbers. I am proud to have helped steer this organization for a
                  Patrick Sheffield
                   Jerrill Sprinkle                        short period of time.
          Elizabeth Thiele, M.D., Ph.D.
                  Williams Watts                               The TS Alliance is making a difference. The future looks brighter than ever.
   Endowment Fund Board of Directors                       While I am ending my term as chairman, you will not be getting rid of me, as I
             Mark Hyman, M.D., Chair
                Wilfred Cooper, Sr.
                   Michael Elias                           will be serving out two more years of my eligibility on the board of directors.
                  Cathy Krinsky
                   James Lawler                            The new leadership team is strong, and I am confident they will take our
                   Doug Loftus
                  Paul Robertson                           organization to an even higher level. Let’s keep the ball rolling.
                     Al Rosen
                   Nancy Scott
                  Jerrill Sprinkle
                                                                                                                              PERSPECTIVE    2
New TS Alliance Leadership
Elected at Annual Meeting
        he annual meeting of the              insight and passion to the organization              past five years, successful businessman
        Tuberous Sclerosis Alliance (TS       and each very personally knows the                   and father of a daughter with tuberous
        Alliance) was held on March           challenges resulting from a family                   sclerosis, was elected chair of the board
23, 2002, in Washington, D.C., in             member having tuberous sclerosis (TS).               of directors at the March board meeting.
conjunction with the spring board of                                                               Frank brings great enthusiasm and
directors meeting. In accordance with         Welcome New Board                                    passion for the mission of the TS
the bylaws of the organization, a ballot      Members                                              Alliance and will preside over the
was mailed to all active members of the                   Fred Linder is president of              organization’s operations for the next
TS Alliance to elect individuals to serve                 New Hope Natural Media                   year as chair.
on the board. Ballots were mailed on                      a n d r e s i d e s i n B o u l d e r,       Frank lives in Denville, New Jersey,
February 20 to 1,362 active members,                      Colorado. He has significant             and is vice president of operations at
with 371 proxy ballots returned by the        business experience with special focus               Clark Davis Associates in Parsippany.
deadline of March 20, and representing        in finance and operations. Fred is                   He has served in many capacities
a quorum as established in the bylaws.        interested in helping the TS Alliance                during his tenure on the TS Alliance
    We are pleased to announce that the       increase its financial success through his           Board, including chairman of the
following individuals were elected to         business acumen and assistance with                  Development Committee, a member of
serve or continue their service on the        fund raising. Fred’s interest in the TS              the Executive Committee, as vice
TS Alliance Board of Directors:               Alliance comes from his close                        chairman and secretary of the board, as
                                              relationship with board member Craig                 well as a number of subcommittees and
Thomas Bologna,                               Elias and the Elias family.                          projects teams. Frank and his wife
Rancho Santa Fe, California                               John Richards is the father              Laura have three daughters. They
Elizabeth Buchsbaum,                                      of a 2-year-old son with TS.             established the Courtney Leigh Small
New York, New York                                        He is partner in the law firm            Steps fund, which provides major
Charles Eggert,                                           o f Tr o u t & R i c h a r d s ,         support to the TS Alliance research
Portland, Oregon                              P.L.L.C. in Washington, D.C. During                  program in honor of their daughter
Frank Gallagher,                              the past year John has been actively                 Courtney, who has TS.
Denville, New Jersey                          involved with the TS Alliance                            Other officers elected by the
Carol Herscot,                                government relations efforts and has a               board are:
Boston, Massachusetts                         strong desire to continue this work.
Yukari Iwatani Kane,                                      Stephany Sherman returns                 Vice Chair:
Chicago, Illinois                                         to the board of directors after          Scott Johnson of Santa Rosa, California
Fred Linder,                                              a one-year hiatus. She resides           Treasurer:
Boulder, Colorado                                         in Atlanta, Georgia, and is              Stephany Sherman of Atlanta, Georgia
John Richards,                                the mother of three children, including              Secretary:
Alexandria, Virginia                          one twin with TS. Stephany has been                  Celia Mastbaum of Marlboro, New Jersey
Marc Shapses,                                 an active volunteer for the TS Alliance
Plainview, New York                           having served as a board member from                 Thank You Marion
Stephany Sherman,                             1998 to 2001 and as treasurer and chair              Adams for Leadership
Atlanta, Georgia                              of the finance committee from 1999 – 2001.           and Passion
William Watts,                                Stephany is a CPA, having worked both                    The Tuberous Sclerosis Alliance
Sewickley, Pennsylvania                       in public accounting with Ernst and                  salutes and thanks Marion Adams III
                                              Young and industry with the Coca-Cola                for serving as chairman of the board of
     The board is responsible for             Company and Coca-Cola Enterprises.                   directors during the past two years. It
governing the organization, including                                                              has been a period of renewal as we have
setting direction and objectives to fulfill   New Elected Officers                                 increased our service to the TS
our charter as a voluntary health                It takes dedication and leadership to             community and accelerated research to
organization. The board represents the        develop and manage a growing                         find treatments and a cure for TS.
interests of the TS Alliance’s constituency   organization and provide inspiration                 Under Marion’s leadership, the TS
and has legal and financial responsibility    and motivation to a board of directors               Alliance has become a vocal and
for the organization. Each member of          comprised of 29 individuals. Frank                   stronger advocate for the TS community.
the board of directors brings skill,          Gallagher, active board member for the               The organization has increased

                                                                                                                         continued on page 7
 3     SUMMER 2002
Coordinated Clinical Care Through TS Clinics
T    he Tuberous Sclerosis Alliance (TS
     Alliance) supports the vital role
that a tuberous sclerosis (TS) clinic can
                                                         Each clinic begins at 9 a.m. and runs
                                                         approximately until 1 p.m. Several
                                                         families attend each session for the purpose
                                                                                                                  nephrology, neurology, neuropsychiatry,
                                                                                                                  neurosurgery, ophthalmology and
                                                                                                                  pulmonary medicine.
play in improving the lives of those                     of data collection and consultation.                          Children and adults of any age can
affected. Below is information on a new                      At the clinic, a family history                      be seen by a specialist to address clinical
TS clinic and updates on existing clinics                questionnaire is reviewed. Dr. McClintock                issues of all types that may occur in
in your region. For a complete listing of                and Phillip Pearl, M.D., will review and                 tuberous sclerosis. The clinic provides
TS clinics in the United States, or for                  examine you or your child. A medical                     all levels of care, including the
more information on the clinics below,                   student or intern/resident may assist                    evaluation of previously undiagnosed
please contact the TS Alliance.                          them. An important additional function                   patients, ongoing follow-up care, and
                                                         of the clinic is to teach young physicians               management for TS patients
St. Louis TS Clinic To Open                              and medical students about TS.                           w i t h a known diagnosis and prenatal
     St. Louis Children’s Hospital is                        Andrea Gropman, M.D. (geneticist),                   counseling. The interventional radiology
pleased to announce the opening of their                 Mark Mausner, M.D. (plastic surgeon),                    specialists provide consultation regarding
TS clinic. Officially opening July 17,                   and Gilber Vezina, M.D., are all                         embolization of renal angiomylipomas.
2002, the clinic will be directed by Kevin               available for consultation during clinic                      In association with the PENN
C. Ess, M.D., Ph.D., and will provide                    hours. If a family would like to have a                  Epilepsy Center, the Clinic Without
comprehensive multidisciplinary care for                 member screened to rule out diagnosis,                   Walls has a particular interest in TS
individuals with tuberous sclerosis.                     this would be the perfect opportunity                    patients with intractable seizures who
     The clinic will enjoy support from                  to do so. The whole family is encouraged                 may require epilepsy surgery. Research
many pediatric sub-specialties at St.                    to attend the clinic.                                    on TS is ongoing at the University of
Louis Children’s Hospital, including                         Several times a year, a guest speaker                Pennsylvania in Dr. Crino’s laboratory.
pediatric neurology and epilepsy,                        will come to the clinic and give                              To learn more about research in
n e u r o s u r g e r y, n e u r o p s yc h o l o g y,   a presentation after clinic hours.                       Dr. Crino’s lab, visit the Web site:
genetics, cardiology and nephrology.                     Refreshments are provided.                     
     Dr. Ess is actively studying the                        For questions about the clinic or to                 o.htm. Questions regarding TS or
function of the TSC genes in brain                       schedule an appointment, please contact                  visits to the Clinic Without Walls can
development and epilepsy in the                          Nancy J. Elling, R.N., at (571) 226-8343.                be sent by e-mail to Dr. Crino at
laboratory of David H. Gutmann, M.D.,                                                                    For an
Ph.D., a member of the TS Alliance’s                     Pennsylvania’s Clinic                                    appointment at the Clinic Without
Center Without Walls research consortium                 Without Walls                                            Walls, call (215) 349-5312.
and Professional Advisory Board.                              T h e “ C l i n i c W i t h o u t Wa l l s”
     The clinic plans to be an active                    program at the University of                             University of Chicago
partner with the St. Louis community                     Pennsylvania Medical Center and                          TS Clinic
in developing a local TS Alliance.                       Children’s Hospital of Philadelphia is                        The TS Clinic at the University of
Coordinating this effort is Debbie                       co-directed by neurologist Peter B.                      Chicago has been in operation for
Coleman who encourages everyone                          Crino, M.D., Ph.D., and geneticist                       approximately 15 years. It is lead by
interested in learning more about the                    Katherine Nathanson, M.D. Jennifer                       Pe t e r Hu t t e n l o c h e r, M . D . , a n d
clinic and the TS Alliance to attend.                    Farmer, M.S., C.G.C., serves as the                      attended by Michael Kohrman, M.D.
For more information on the TS                           clinical coordinator. The multi-                         Clinic is held the third Friday of every
Alliance of St. Louis contact Debbie                     disciplinary clinic primarily serves                     month in the afternoon.
Coleman at                         patients living in Pennsylvania, New                          Keyoumars Soltani, M.D., clinic
     For more information and                            Jersey, Delaware and Maryland, but                       dermatologist, is available for
appointments, please call St. Louis                      also welcomes TS patients from around                    consultation if notified prior to the
Children’s Hospital, Division of                         the country.                                             visit. Dr. Soltani has been working with
Pediatric Neurology at (314) 454-6120.                        T h e C l i n i c W i t h o u t Wa l l s i s        the clinic for a number of years and has
                                                         comprised of more than 20 medical                        vast experience with angiofibroma
TS Research Clinic in                                    sub-specialists dedicated to the                         treatment. Deborah Karczewski, R.N.,
Washington, D.C.                                         evaluation and treatment of patients                     and Patti Ogden also attend the clinic.
    The TS clinic of the Washington                      with TS. The physician staff includes                    A social worker is available as needs
Metropolitan Area is under the medical                   pediatric and adult specialists in                       arise. For an appointment, please
direction of William McClintock,                         d e r m a t o l o g y, g e n e t i c s / g e n e t i c   contact Sharon at (773) 834-8064.
M.D. The clinic is scheduled to meet                     counseling, interventional radiology,
every other month starting in September.                 maternal and fetal medicine,

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
TS Alliance Funds $ 1 Million in Research
      The Tuberous Sclerosis Alliance (TS              further scientific understanding of TS.              toward finding a cure for TS. The
Alliance) has awarded $1 million in                    A coordinated effort to understand TS                award is made possible through a
funding to research laboratories within                and discover molecules relevant to TS                special research fund established by Dr.
Harvard Medical School, Brigham and                    and the P13K pathway could expedite                  Jonathan Rothberg, his wife Bonnie
Women’s Hospital and Massachusetts                     the development of therapeutic                       Gould Rothberg, M.D., and the
General Hospital. This three-year                      interventions for TS. Participating                  Rothberg family.
award made through the Tuberous                        laboratories include those of John                         The TS Alliance is working closely
Sclerosis Alliance Rothberg Award for                  Blenis, Ph.D., Lewis Cantley, Ph.D.,                 w i t h t h e Ro t h b e r g In s t i t u t e f o r
Courage in Research will allow five                    and the Institute for Chemistry and                  Childhood Diseases, a Guilford,
l a b o r a t o r i e s w i t h i n t h e Ha r va rd   C e l l Bi o l o g y ( I I C B ) d i re c t e d by   Connecticut-based non-profit research
community to work collaboratively to                   Timothy Mitchison, Ph.D. at Harvard                  i n 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
advance basic science research as it                   Medical School; Iswar Hariharan,                     researchers at all levels, from post-
pertains to tuberous sclerosis (TS) in                 M.D., Ph.D., at the Massachusetts                    doctoral fellows to accomplished
the hopes of identifying future                        General Hospital and David                           scientists. A primary objective of this
direction for the development of                       Kwiatkowski, M.D., Ph.D., at Brigham                 joint effort is the creation of a
effective treatments and the eventual                  and Women’s Hospital.                                consortium of some of the most capable
discovery of a cure.                                        The TS Alliance Rothberg Award                  scientists in the fields of cellular and
      A shared focus of the participating              for Courage in Research was established              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,
laboratories is to identify the role of the            to recognize outstanding scientific                  biochemistr y and bioinformatics
P13K signaling pathway in an effort to                 research that advances the knowledge                 conducting research on TS.

TS Alliance Presents $100,000                                                                               Deadline Extended
Award to Yale Researcher                                                                                    for Department of
                                                                                                            Defense Tuberous
                The Tuberous Sclerosis                 pathways identified by TS researchers,               Sclerosis Complex
                Alliance (TS Alliance) is
                pleased to announce that
                                                       including Tian Xu, Ph.D., of the
                                                       Yale Medical School and assistant
                                                                                                            Research Program
                David J. Austin, Ph.D.,                investigator with the Howard Hughes                  For investigators submitting to
                associate professor of                 Medical Institute and prior recipient of
                c h e m i s t r y a t Ya l e           the TS Alliance Rothberg Award for
                                                                                                            the FY02 Tuberous Sclerosis
University, has been named recipient of                Courage in Research.                                 Research Program, the due date
the TS Alliance’s Rothberg Award for                       Dr. Austin received his bachelor of              for electronic receipt of
Courage in Research. The Rothberg                      arts and master of arts in chemistry at              proposals has been changed to
award was presented to Dr. Austin’s                    the University of South Florida and his              September 18, 2002. Electronic
laboratory in support of the therapeutic               doctorate in chemistr y at Emor y                    Letters of Intent should be
discovery program recently announced                   University. He joined the Yale faculty in
by the Rothberg Institute for Childhood                1996 after serving as an American
                                                                                                            submitted as soon as possible,
Diseases and the TS Alliance.                          Cancer Society Postdoctoral Fellow                   but no later than September 4,
    The Austin laboratory is focused                   in Chemical Biology at Har vard                      2002. Scientific peer review for
on a research effor t that applies                     University in the laboratory of Stuart L.            the program will take place in
combinatorial and computational                        Schreiber, Ph.D.. He is the recipient of             November 2002, and
chemistry to test chemical compounds                   numerous awards including a Research                 Programmatic Review will take
against new therapeutic targets in                     Corporation Research Innovation
tuberous sclerosis (TS) with great                     Award (1997), the Johnson & Johnson
                                                                                                            place in January 2003.
emphasis on life saving interventions to               Research Institute Focused Giving                    Investigators will be notified of
treat terminal conditions that may                     Aw a r d ( 1 9 9 9 ) , t h e A s t r a Z e n e c a   their funding status in
develop, such as renal and pulmonary                   Pharmaceuticals Excellence in                        February 2003.
complications. Drug discovery efforts                  Chemistry Award (2000) and an Alfred
will also focus on the varied clinical                 P. Sloan Foundation Fellowship (2001).               For more information visit
expressions of TS and other potential                  He is also a co-founder of Ambit
disorders linked to the TS tumor                       Biosciences Corporation.
suppressor gene proteins and molecular                                                                      02tscrp1.htm

  5     SUMMER 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.

Below are summaries of recent studies              2) Peter Crino, M.D., Ph.D., and           purpose of understanding how
focused on brain development and                   collaborators at the University of         mutations within these genes result in
seizures in Tuberous Sclerosis (TS).               Pennsylvania, consider the patterns of     abnormal brain development. The
                                                   abnormal brain development that are        review by Dr. Crino discusses how
1) A review by William McClintock,                 encountered in infants, often with         novel techniques allowing for analysis
M.D., from Washington, D.C., focused               infantile spasms, and in children and      of patterns of gene expression within
on the clinical aspects of TS, particularly        adults with intractable epilepsy. They     single cells, including neurons, is likely
the intractable nature of the seizures in          discuss the treatment of epilepsy          to provide answers to the most vexing
individuals with this condition. He                associated with some of these brain        and important question about these
pointed out that early identification              abnormalities, such as focal cortical      lesions: Why do they cause seizures?
and diagnosis of TS is important to                dysplasia and tubers of TS, which may
ensure proper monitoring and genetic               include cortical resection performed to    *For a complete listing of references for this article,
                                                                                              please contact the Tuberous Sclerosis Alliance.
counseling, and that physicians should             remove the “dysplastic” or abnormal
be aware of the marked variability of              region of the brain.                       Vicky Whittemore, Ph.D., is the director for the
expression in all the clinical features of             Over the past 10 years there has       Center Without Walls and is the senior science
TS . He a l s o p o i n t s o u t t h a t t h e    been an explosion of information on        advisor for the Tuberous Sclerosis Alliance.
neurologist must be aware of other                 the genes involved in abnormal brain
organ involvement, particularly the                development. The genes responsible for
lungs in female patients and the                   many of these disorders have been
kidneys, to ensure appropriate                     identified and now permit important
monitoring for complications.                      studies to be carried out with the

           New Perspectives in Tuberous Sclerosis Complex
                       Research Conference
                          September 19-22, 2002 / Westfields Marriott, Chantilly, VA
   Sponsored by the Tuberous Sclerosis Alliance and the National Institutes of Health with lead funds from the
                           National Institute for Neurological Disorders and Stroke

WHAT IT IS                                                              LOCATION
A scientific conference on tuberous sclerosis (TS) with a               The Westfields Marriott in Chantilly is a state of the art
goal to develop a comprehensive research plan for TS. The               facility. It evokes the charm of Virginia's magnificent
plan will serve as a blueprint for future research endeavors            colonial estates, and combines sophisticated conference
on this genetic condition. Attendees will evaluate progress             facilities, elegant accommodations and exciting resort
in TS research, identify new research initiatives and                   activities. Westfields is located seven miles south of Dulles
outline research priorities.                                            International Airport.

Invited scientists and clinicians will present their solicited          FOR MORE INFORMATION…
abstracts. Breakout sessions will be available to discuss               Contact Vicky Whittemore by email at
future research opportunities and research initiatives.       
                                                                        About reservations, call Holly Knorr at (800) 225-6872,
WHO SHOULD ATTEND                                                       or visit
Scientists, physicians and clinicians from the U.S. and
abroad with a focus on tuberous sclerosis complex and an                To view the conference agenda, visit:
interest in formulating the TS research agenda.               

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
                                            challenges remain to be explored in the             is using the Eker rat model–animals that
                                            immature central nervous system.                    have a mutation in the TSC2 gene–as
                                                 Focusing on the hippocampus (part              well as human tissue removed from
                                            of the temporal lobe that is involved in            individuals with tuberous sclerosis (TS) at
                                            learning and memory) and the cerebral               the time of surgery for intractable epilepsy.
Scott C. Baraban, Ph.D.                     cortex as key structures in epileptogenesis,            Dr. Baraban hopes to learn more
Assistant Professor and Director,           his laboratory is using a variety of electro-       about the properties of abnormal
Epilepsy Research Laboratory,               physiological and molecular approaches              neurons that are found within tubers. It
Neurological Surgery                        to study the properties of individual               is believed that cells within these tubers
University of California,                   neurons in animal models of childhood               contribute to the initiation and
San Francisco                               seizure disorders, as well as in human brain        propagation of abnormal seizure activity
                                            tissue obtained from children under-                in individuals with TS.
    Dr. Baraban’s research interests are    going surgery for intractable epilepsy.                 A n a d d i t i o n a l p r o j e c t i n D r.
focused on childhood seizure disorders,          One major aspect of Dr. Baraban’s              Baraban’s laboratory group, carried out
which are among the most common             research is the development and analysis            by Maria Elisa Calcagnotto, M.D., will
forms of epilepsy and are often resistant   of animal models that mimic specific                focus on how tuber cells communicate
to conventional anticonvulsant              childhood seizure disorders. Along these            in the Eker rat model. Overall, a better
medications. While we have learned          lines, the Tuberous Sclerosis Alliance is           understanding of how tuber cells
much from studying epilepsy in the          currently funding his research grant                function will help us to understand what
mature brain, both clinical experiences     entitled “Electrophysiological Properties           causes seizures in individuals with TS so
and experimental observations suggest       of Abnormal Giant Cells in Tuberous                 that novel treatments and therapies can
that many unique questions and              Sclerosis.” For this work, his laboratory           be developed.

New Leadership-continued from page 3        yo u n g c h i l d d i a g n o s e d w i t h TS .   active and vibrant governing board.
awareness and resources necessary to        Marion’s personal commitment was to                 The bylaws, as well as best practices in
support additional services and cause       help the TS Alliance get answers we all             non-profit management, limit the
more research to take place, and we         ask about finding better treatments,                number of consecutive terms that an
have become a successful and efficient      improving care, and obtaining the                   individual can serve to two terms (each
organization of which members, donors       resources necessary to help nurture the             term being three years). The TS
and the community served by the TS          development of a loved one with TS                  Alliance, therefore, thanks the following
Alliance can be proud.                      and make sure that all the scientific               individuals who are completing six
    It has been Marion’s drive and focus    resources we can muster focus on                    years of service to the organization and
that led the organization through an        finding ways to beat TS.                            whose contributions to the board will
important name and identity change;             We thank Marion for his ongoing                 be missed. But, as active members of
brought bold and new research               commitment to the TS Alliance and                   the TS Alliance, we look forward to
collaborations; began an aggressive         we thank his family for sharing                     their ongoing support and involvement:
campaign to get the attention of            unselfishly the talent and passion                      Andy Fleck of Dallas, Texas, has
Congress and engage the federal             Marion brought to the organization as               been an active member of several
government in TS research; brought          chairman. He will continue to serve on              committees over the years. Sue Lamont,
together a talented and dedicated           the board and will always tell his                  Ph.D., of Ames, Iowa, has been chair of
professional staff to increase support      colleagues on the board and staff to                the Center Without Walls and scientific
and services and greatly improved the       stay focused and “keep it going.”                   adviser to the organization. Dave Scott
organization’s financial stability.                                                             of Fenton, Michigan, has been actively
    The entire community served by          Thank You Outgoing                                  involved in a number of projects and
the TS Alliance has benefited from this     Board Members For                                   committees.
father who, only a few years ago, turned    Dedicated Service                                       We thank each of these outstanding
to the only organization that was able          The bylaws of the TS Alliance                   individuals for all their efforts on behalf
to help his family through the initial      require the rotation of board terms so              of the entire TS Alliance community.
and ongoing stages of dealing with a        that the organization can maintain an

 7    SUMMER 2002
Government Relations Update
        he Tuberous Sclerosis Alliance             provide research involvement and             Contact your representative in
        (TS Alliance) government                   support from a number of individual        Congress to:
        relations program is in full               institutes under the NIH umbrella.
swing working to get federal support               We are asking the House Appropriations     • Urge them to support a $10 million
for tuberous sclerosis (TS) research               Committee to place specific language       a p p ro p r i a t i o n t o t h e Tu b e ro u s
and awareness. One of last year’s                  in the appropriations bill for NIH to      Sclerosis Complex Research Program
accomplishments was getting both                   include TS in its programs.                in the Congressionally Directed
the House and Senate to adopt House                                                           Medical Research Program.
Concurrent Resolution 25, which
acknowledged the importance of                     Help Get Needed                            • Let them know that at the current
federal support for TS research and                Research Dollars                           funding level of $1 million, the
requested action by the National                       You can help the TS Alliance by        Congressionally Directed Medical
Institutes of Health.                              contacting your representative in          Research program cannot be effective.
    The TS Alliance is now working                 Congress and the two senators from         More funding is necessary to improve
to make sure that Congress and the                 your state and asking for their            program efficiency and to yield
federal research and medical                       support of legislation that provides       significant research advancements.
community become active partners in                resources for tuberous sclerosis.
research, clinical care and medical                A visit with your congressional            • Ask them to contact Rep. Jerry
awareness. The TS Alliance has                     representative can be highly effective.    L e w i s , c h a i r m a n o f t h e Ho u s e
several major initiatives underway:                You can contact their district office in   Appropriations Subcommittee on
                                                   your state to ask for an appointment.      Defense, in support of the proposed
• Partnering with the National                     A letter, e-mail or phone call will get    $10 million in funding for the
Institutes of Health (NIH) to develop              the attention of your representatives      Tuberous Sclerosis Complex Research
a research plan for TS. NIH and the                in Washington, D.C.. Members               Program.
National Institutes for Neurological               of Congress act on issues that are
Disorders and Stroke and the TS                    important to their constituents. This      • Ask them to request that NIH
Alliance are co-sponsoring a three-day             is your opportunity to let them know       increase support for tuberous sclerosis
scientific conference in September to              TS research is important to you.           in the bill making appropriations for
develop this plan (see page 6).                                                               Labor, Health and Human Services
                                                                                              and Education for 2003.
• Working with the Department of                   Ways That You Can Help!
D e f e n s e a n d t h e U . S . A r m y ’s          Contact the two senators from               The TS Alliance Web site has
Congressionally Directed Medical                   your state to:                             sample letters and other advocacy
Research Program to begin funding                                                             tools that you can use to help educate
TS re s e a rc h t h ro u g h t h e A r m y        • Urge them to support a $10 million       your representatives in Congress. If
program. This collaboration is a result            appropriation for the Tuberous             you do not have access to the
of our success last year in getting $1             Sclerosis Complex Research Program         Internet, you can call the TS Alliance
million in research funds earmarked                in the Congressionally Directed            at (800)-225-6872 and ask for
in this research program.                          Medical Research Program.                  government advocacy information to
                                                                                              be sent to you. Please send any copies
• Seeking $10 million in TS research               • Let them know that at the current        of correspondence you send to
funds though the Department of                     funding level of $1 million, the           Congress to the TS Alliance office:
Defense Congressionally Directed                   Congressionally Directed Medical           c/o Government Relations Coordinator,
Medical Research Program. We are                   Research program cannot be effective.      801 Roeder Road, Suite 750, Silver
seeking inclusion of this $10 million              More funding is necessary to improve       Sp r i n g , M D 2 0 9 1 0 . If yo u a re
request in the appropriations bill that            program efficiency and to yield            contacting your representative by e-
provides funding for the Department                significant research advancements.         mail please send a blind copy of your
of Defense.                                                                                   e-mail to .
                                                   • Ask them to request that NIH
• Continuing to urge the Director of               increase financial support for TS
the NIH to prioritize TS research and              research in the budget for 2003.

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
Welcome New Staff                                                 President’s
The Tuberous Sclerosis Alliance
(TS Alliance) is pleased to
                                                                   Mike Coburn
                                                                   President and CEO of the Tuberous Sclerosis Alliance
welcome the following additions
to its staff.

Cheryl Dunigan, Ph.D.,                                            W        hen the organization adopted its new name and
                                                                           identity as the Tuberous Sclerosis Alliance in
                                       December 2000 (formerly the NTSA), and we chose to include the word “alliance”
joins the organization as vice
president of scientific affairs. Her   in our name, I wrote in this column that the future for our organization’s ability to
responsibilities will include          better serve the tuberous sclerosis (TS) community would be through new and
                                       emerging alliances. It is through collaborations and alliances that we can collectively
working closely with new
                                       pool together the talent and resources necessary to advance our mission to find a cure
research partners and institutes
                                       and improve the lives of all affected by TS. Here we are today with new partnerships
and assisting with the
                                       that bring new resources to provide more awareness on a local and national level,
development of an overall              increased funding to help get the resources we need, and significant increases in
research strategy for the              scientific and medical research.
organization. Dr. Dunigan will             Among the collaborations that have emerged are the 10 Community Alliances
bring additional basic and             formed in the past year (see pages 18-19). These volunteer groups bring families and
clinical scientific resources to the   friends together locally or regionally for support groups and fund-raising and
organization as it continues to        awareness events. During the past year, they helped hand deliver more than 2,000
form new scientific and clinical       medical awareness packets to physicians to help broaden medical knowledge about
partnerships. Dr. Dunigan              the importance of early diagnosis and proper care for those with TS. We expect 10
recently served as scientific          additional Community Alliances to form in the coming months.
director with the International            The formation of a new non-profit research institute to work alongside the TS
Rett Syndrome Association.             Alliance brings great hope for all those with TS, with the sole focus of discovery of drugs
                                       that may one day stop the damage caused by TS. Our partnership with The Rothberg
Nicole Engdahl
                                       Institute for Childhood Diseases brings together the incredible scientific expertise of the
                                       Rothberg Institute with resources of the TS Alliance and our growing community.
joins as Director of Donor
                                           The Rothberg Institute for Childhood Diseases is using some of the most
Relations. Nicole has more than
                                       innovative technology in the search for effective treatments for TS. Thousands of
five years of development              individuals, most of whom have never heard about TS, are now involved through the
experience, including cultivating      Rothberg Institute’s software program called “Community TSC”. The downloaded
individual donors and corporate        program allows them to use idle time on their personal computers to evaluate
sponsors, organizing special           potential chemical compounds as drug targets for TS.
events, and developing volunteer           Our work with Congress has resulted in a fantastic partnership with the National
workshops and training sessions.       Institutes of Health (NIH), who is a co-sponsor with the TS Alliance of a scientific
She comes to us from St. Olaf          conference devoted solely to devising scientific strategies and approaches to curing
College where she worked in the        TS. The federal government is also implementing a new tuberous sclerosis research
annual giving department and           program within the Department of Defense Congressionally Directed Medical
previously worked for the Cystic       Research Program. Again, this is due to the alliances we have developed with
Fibrosis Foundation.                   members of Congress who are helping advocate for TS research and awareness.
                                           Clinical alliances are also evolving. The recent opening of a comprehensive clinic
Marybeth Leongini                      and research program at New York University affiliated with the NYU
                                       Comprehensive Epilepsy Center, and a growing clinic at the Pittsburgh Children’s
is now serving as Director of
                                       Hospital are providing better coordinated care for TS patients. The TS Alliance has
Communications . She comes to
                                       placed a high priority on establishing additional clinics in the coming year as well as
us from the Spina Bifida
                                       a network of clinical research centers. Through these centers we will develop a
Association of America (SBAA)          comprehensive clinical database that will support ongoing and future research by
in Washington, D.C., where her         better correlating clinical expressions of TS with advancements in genetic and
responsibilities included public       molecular studies of the disorder.
awareness campaigns, media                 Indeed, alliances are critical to the advancement of our mission and we will
relations and publication              continue to seek out the best-qualified partners to provide information, research,
management.                            clinical care and other services to those whom we are committed to serve.

     9     SUMMER 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
By Susan Diaz McBrine

M       ore than 25 years ago, I helped
        found the National Tuberous
Sclerosis Association (NTSA), now
                                                     seizures and tumors. Despite excellent
                                                     medical care and consultation, she
                                                     lost one kidney at age 18 and tumors
                                                                                               for every part of Stacia’s life. I have
                                                                                               learned not to blame or condemn
                                                                                               those who cannot or will not help her
the Tuberous Sclerosis Alliance. My                  in her remaining kidney have              or us. I have learned that the world of
dream was that no family would ever                  continued to grow.                        the disabled is a special world that I
feel alone in battling this disease and                  Now our options are dialysis or       am glad that I have been allowed to
that someday there would be a                        transplant. Due to all the other TS       enter. Today, I am a special educator
genetic test, better treatments and                  complications, dialysis would             working with 16 to 22-year-old
maybe even a cure.                                          only be torture for her. She       students with severe disabilities.
    To d a y, m y d a u g h t e r                               would not understand the            I have learned that my three other
Anastacia (Stacia) is 30                                          long treatment, and her      children have turned out to be better,
years old. Most of my                                               fragile body would         more compassionate, caring people
dream has come true                                                  most likely reject a      because of sharing Stacia’s life.
and for that I am                                                     transplant. So I have         I urge all of you to become a
eternally grateful. I                                                  decided, after much     conservator when your child is an
am proud that other                                                     consultation and       adult and to name another person,
families don’t have                                                     agonizing, to let      perhaps one of your other adult
to desperately search Stacia at                                         Stacia die with        children, as co-conservator. If I
for help and hope age 6.                                                dignity and without    should die unexpectedly, Stacia would
like we did in the                                                      suffering. It is the   still have a loving sibling to make
early 1970s. I am                                                       same decision I        decisions about her care. It allows
especially happy that                                                  would make for my       me to have her tissues and organs
my three other                                                        other children or        donated for research. It allows me
children can benefit                                                 myself, but it is the     to not have to argue with any
from a genetic test before                                         hardest thing I have ever   professional about what she needs or
they become parents.                                             done. She is still enjoying   doesn’t need.
    I am writing this with                                    life at the moment, but is            For the past three years, Stacia has
great sadness, but also great hope                       becoming more tired.                  lived in a group home. It finally
for the future for other families                              I share this with you to help   became a necessity to get her the care
affected by tuberous sclerosis (TS).                 each of you to cope with this terrible    that she and I needed. I learned that
Stacia has only a few months to live                 disease in a more positive way. First I   she is happier and more independent
due to complications.                                have learned to love Stacia for who       without me. She
    I have spent my life trying to                   she is and not who I wanted her to        deserves living with Staciaschool
                                                                                                                                  at her

cope with and find answers to the                    be. I have learned to grieve for the      friends, experiencing prom.
many symptoms and medications                        Stacia who isn’t normal. I think in       roommates and a social
that have affected Stacia. I can say                 many ways she is happier than I am        life. Letting go is hard
that she has had a good life, been                   because she doesn’t know she is           for parents of any
loved and participated in quality                    different and that she is dying. She is   child, doubly so with
special education programs. She has                  a braver person than I could ever         TS children, but
also had many experiences for                        think of being. She loves every person    something we have to
normal socialization and family life.                who comes into her life. She has          learn.
Her physician Doris Trauner, M.D.,                   endured surgeries, hospitalizations,           N o w, I h a v e t o
of the University of California San                  many drugs, blood tests and endless       learn the final lesson of
D i e g o , h a s p r ov i d e d e x c e l l e n t   trips to the doctor. She must hate to     letting go and allowing
medical care.                                        even see a hospital, yet she never        her to die without pain
    Stacia has experienced the entire                complains. She laughs and finds joy       or suffering. She
spectrum of TS. She is very                          in every day.                             recently looked at me
developmentally disabled, autistic,                      I have learned to seek professional   and told me “no more
has sleep and behavior problems,                     advice often and to access resources      hospitals.”

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
Comedy for a Cure Raises More
Than $100,000 for TS Research
     On April 28, Comedy for a Cure               Hobart, who also serves as a
raised over $100,000 for the Tuberous             board member for the TS
Sclerosis Alliance’s research programs.           Alliance. “Everyone in the
The event, held at the Laugh Factory              room, from the audience, to
in Hollywood, was hosted by two-                  our celebrity hosts, to the
time Emmy Award winner Patricia                   comics, all want to find a
Heaton, and television/film star                  cure to end this disorder.”
Jennifer Love Hewitt.                                 Heaton and Hewitt’s
     T h e e ve n i n g f e a t u re d a l i ve   involvement not only added
auction followed by performances                  celebrity appeal to the
from Laugh Factory comic regulars,                evening, but they were
i n c l u d i n g A n d y K i n d l e r, To m     instrumental in raising the Patricia Heaton (left) and Jennifer Love Hewitt (right)
Dreesen, Ron Pearson and Jimmy                    auction bids. Hewitt modeled
Bro g a n . T h e i m p re s s i ve l i s t o f   one item, a Rona Pfeiffer necklace,           Damon Casatico, ser ving as
auction items included a guitar                   and upped the ante by offering a kiss   auctioneer for the evening, kept the
signed by Bon Jovi’s Richie Sambora,              to the highest bidder. The two later    audience entertained and the auction
breakfast with Larry King, and a                  competed for the winning bid on the     p r i c e s r i s i n g . Hi s i n vo l ve m e n t
Seabourn Spirit cr uise to both                   guitar signed by Sambora. Hewitt        stemmed from his friendship with a
Thailand and Vietnam.                             won with a bid of $4,000.               TS family. “Nobody has commented
     Wi t h a p p r o x i m a t e l y 2 5 0 i n       “It was amazing to be part of       on the event without saying how
attendance, the evening was a terrific            such an incredible event. I was         fabulous and hilarious he was and
success and plans are underway to                 honored to host the event,” said        what an important part of the
make Comedy for a Cure an annual                  Heaton. After meeting Hobart’s son      evening he was,” said Hobart of
event. Event co-chairs Christy Hobart             Ben, who has tuberous sclerosis         Casatico.
and Cece Yorke had the help of more               (TS), Hewitt knew she “had to do              The true dedication of those
than 30 volunteers from the Los                   something to help him and everyone      attending was seen when at the end
Angeles area.                                     with TS. The event was so much fun.     of the auction, Casatico encouraged
     “I can’t imagine ever being able to          Thanks for letting me be a part of      the audience to raise their programs
top the enthusiasm and love that                  it.” Both celebrities have generously   and commit to a donation of $100.
filled the Laugh Factory during our               offered their support of future TS      Arms clutching programs shot up
first Comedy for a Cure,” said                    Alliance activities.                    across the room.

     My other children and I will learn           to her doctors. She has allowed me to          about being a parent, a sibling, a
how to grieve again and to cope                   share her story with many of my                relative, or a person with TS is ever
without Stacia in our lives. We are               students over the years in regular             easy. There will be much laughter and
planning her funeral to be a                      education who are now teachers,                more tears. Take it one day at a time,
celebration of her life. We are donating          doctors, social workers and others             and don’t forget to laugh as much as
her tissue and organs for research so             who will remember that the disabled            you cry!
that her life will have had even more of          are loved, important and have much
a purpose. I am having my other                   to contribute.
children tested for TS with Stacia’s                  I hope that my story does not
DNA, which must be done while she                 make you sad about your child with
is still alive. I am very thankful to the         TS, but hopeful that in life or death          Susan (Diaz) McBrine serves as part of the
TS Alliance for funding this.                     your family can also say that your             Alumni Ambassador Group. You can contact
     Stacia has affected many people’s            child was here for a reason and taught         her at or call
lives for the better. She taught bravery          us all to be better people. Nothing            (760) 482-0891.

 11     SUMMER 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
By Linda Creighton, MSW, LCSW-C

         here are 36.1 million                     citizenship, and the rights of a            friends and professionals that
         disabled Americans (nearly                citizen; the idea of inclusion in           embrace the philosophy of weaving
         15 percent of the total                   c o m m u n i t y ; o f control, choice,    diversity into the fabric of a
American population) who desire no                 freedom and opportunity.                    community to meet the needs of all
more from life than their non-                         One of the principal strategies to      individuals. The reality of a vision
disabled brothers and sisters.                     enable people with disabilities to          may far exceed anything ever thought
Individuals with disabilities rely on              achieve self-determination is through       possible, but it will take a lot of work
their families and the community                   legislation and national policy. It is      and a strong commitment.
just like non-disabled people.                     important to recognize that this does           “Circle of Inclusion” is an example
    The Americans with Disabilities                not apply to only laws and policies,        of a vision, and below is a list of only a
Act of 1990 (ADA) is the federal civil             which are specifically focused on their     few of its essential components, which
rights statute protecting the rights of            rights and requirements. Policies           includes needs and desires of the
individuals with disabilities in the               must be designed and implemented            individuals who will be affected by the
U.S. Under the ADA, an individual                  to ensure the inclusion of those who        action plan. The consumers, families
with a disability is a person who 1)               may be at the risk of exclusion on the      and other invested participants should
has a physical or mental impairment                basis of ethnicity, culture, race or        want the following for the adults with
that substantially limits one or more              disability. Funding must be grounded        disabilities who desire to live in the
major life activities; 2) has a record of          in the principles of human rights and       community:
such an impairment; or 3) is regarded              social justice.
as having such impairment.                             Self-determination is allowing the      Circle of inclusion:
    Since the enactment of ADA,                    ones receiving services, both the           a. C o m m u n i t y i n t e g r a t i o n ( i . e .
individuals with disabilities have                 funding and the authority to determine         independent living, accessibility)
grown from a small band struggling                 how to live their lives. It means that      b.A continuum of care and service
for simple rights to a significant                 the budget will be developed with              delivery without interruptions (24/7)
political force shaping the future of              responsible choices as to how the plan      c. Knowledgeable, caring staff
disability legislation and policy. Their           of inclusion will be enacted.               d.Self-determination, human rights
united voices will continue to echo                                                               and personal dignity
the need for change, which includes                                                            e. Accessible and safe housing
political, attitudinal, financial and              Uniting to Make a                           f. Transportation for medical, social
regulatory environments that are                   Vision and a                                   and vocational programs and/or
shaped to support their rights.                    Commitment an Action                           employment
    If we listen to their voices, we will              There are a lot of well meaning
hear those affected with disabilities              people, including family members,           The vision and plan needs to be
say that they are individuals who                  professionals and organizations, who        clearly defined and agreed upon by
want to live, work, play, worship and              are dedicated to improving the              the participants before you can begin
participate in community activities of             quality of life for the disabled. There     to implement further steps.
their choosing. They want to be given              are politicians that together exchange
the opportunity and support to                     ideas and pass laws that may affect
explore options and freedom to make                those with disabilities. But, a vision      Independent Living
their own choices when possible.                   and a commitment to improve life for            A component of the circle of
                                                   those who are disabled will only            inclusion for many individuals with
                                                   become an action when the action has        disabilities may be independent living.
The Definition of Self-                            a plan with concrete steps.                 The Social Work Dictionary defines
Determination and the                                  One of the first steps is to identify   independent living as “the ability to be
Politics of Inclusion                              the vision. A vision will take              self-governing and self-sustaining.”
   The word self-determination is                  collaboration and partnerships with         This is often accomplished for the
broad enough to carry a variety of                 organizations and agencies,                 individual with disabilities within a
important ideas. These ideas include               passionate families and dedicated           supportive service network that

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
provides protection while maximizing         forms against people with disabilities.    have embraced them by the legislation
independence for the individual.             Discrimination has taken the form of       passed into laws, the jobs offered to
    Ask anyone in the independent            preventing qualified applicants from       them, accessibility to public buildings,
living community to list the top three       obtaining a job that they were             the neighborhoods they live in, and
problems facing people with                  qualified for, or kept those with          the home and community programs
disabilities today, and there is a good      mobility impairment from gaining           that are offered to them.
chance the response will include             access to transportation and                   To read more about ADA law,
insufficient housing, unsafe locations       buildings. Often individuals with          home and community-based services,
and inaccessibility.                         disabilities felt deprived of their        go to
    Resolving the housing problem is         liberty and dignity. However, their        and
crucial to advancing independence            voices will not go unheard as we move      /publications.htm. Also, look for the
for people with disabilities. Until this     into the next century.                     Tu b e r o u s S c l e r o s i s A l l i a n c e ’s
most basic need is met, it is nearly             Individuals affected with              announcement of the Adult Life
impossible for a person with a               disabilities will know their voices are    Stages Guide, which will list many of
disability to move on to other things        heard when we embrace and accept           the state and federal resources relating
that contribute to an independent,           their diversity. They will know we         to community living
productive and satisfying life.
    Independent living is more than a
social movement, it a paradigm that is       The Voices of the Disabled
                                                  Listen to our voices when we          resources. We believe that service
reshaping the thinking of disability
professionals, organizations and             challenge your assumptions about           planners who know us best are in a
government programs. In the 1973             what we can do and how we should           better position to facilitate life-
Rehabilitation Act, Section 504              live. We want the focus to be on the       defining choices than administrators
outlines the civil rights aspects of the     quality of life, equality and freedom to   who rarely see us. But we do want to
act and prohibits discrimination             make our own choices. Slowly we are        be assured that state and federal
against “qualified handicapped               shedding the passive role and              agencies will safeguard equitable access
individuals” under any program or            beginning to present ourselves as          to supports and funding. We ask that
activity receiving federal financial         consumers who have control, choices,       key players cooperate, coordinate and
assistance.                                  freedom and opportunities. It is now       collaborate.
    There are also barriers that need be     unacceptable for a state or local agency       Each of us should not only receive
examined before a circle of inclusion        to make decisions for us.                  the benefits of community life and
can be completely accomplished.                   In the past we often had limited      opportunities, but also be a part of the
Instead of attempting to address the         choices about where and with whom          fabric of relationships that forms the
barriers, below are some of the steps        we lived and who provided our              c o m m u n i t y. L i f e m a y o f f e r
necessary to fulfill the vision of           support. We now ask to be given            unprecedented opportunities to live,
independent living for adults with           choices and have control over the          work, worship, play and participate in
disabilities. Any program that is going      decisions when possible. In all things,    the community.
to be developed may want to consider         we ask that decisions about our lives be       We, along with our families and
the following outline:                       made as close as possible to our needs.    communities, are capable of naming
                                             If we are unable to make the decision,     and solving our own issues, defining
a. establish a vision                        then we request that our families and      our needs and describing our desires
b.identify the need                          invested professionals make the            for the future. If public money is spent
c. develop an action plan to meet the need   decisions. We ask that you provide us      on behalf of us, it must be with our
d.implement the plan                         with a continuum of services and           consent and active participation. We
e. evaluate the plan                         resources so that we may co-exist in       refuse to be treated like a commodity
f. determine future changes and              the community like our brothers and        rather than participants in our own
   needs to the existing plan                sisters.                                   lives. Give us the same dignity you give
                                                  We prefer for local organizations,    our non-disabled friends.
                                             rather than state agencies or large
The Future                                   corporations, to be working with us        Linda Creighton, M.S.W., L.C.S.W.-C., is
   Throughout history, society has           and our families to define the             program manager for advocacy and outreach
accepted discrimination in various           presenting concerns, priorities and        at the Tuberous Sclerosis Alliance.

 13    SUMMER 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
                                                                                       Kayla Trundle

Special Events                                                                          raised funds
                                                                                           through a
                                                                                        for Andrew.
                                                                                                        outstanding efforts to raise public
                                                                                                        awareness and funds for TS Alliance
Food and Wine
Tasting Events Raise
Significant Revenue                                                                                     Annual Shrub Sale
for TS Alliance                                                                                         Raises $130,000 for TS
      The Tuberous Sclerosis Alliance                                                                       On May 25, the 16th Annual
(TS Alliance) held its first Food &                                                                     Charity Shrub Sale held at Conard-
Wine Tasting event in Washington,                     A Bowl-A-Thon for                                 Pyle’s Rose Barn in Jennersville,
D.C. on March 21. This inaugural                      Andrew                                            Pennsylvania raised $130,000 for TS
event afforded attendees the oppor-                       Kayla Trundle, a 14-year-old from             Alliance programs and research efforts.
tunity to sample the work of the finest               Swartz Creek, Michigan, organized a               Event coordinators Burt and Sue
chefs from the Washington, D.C.,                      bowl-a-thon to support the Tuberous               Goodrich started the event in 1985
Metropolitan Area as well as wines                    Sclerosis Alliance, in honor of her 11-           when their daughter Colleen was born
specially selected to complement the                  year-old brother Andrew, who suffers              with tuberous sclerosis.
evening’s cuisine.                                    from tuberous sclerosis. Kayla and her                The Conard-Pyle Company and
      The location for the event was the              friend Rachel Scott recruited about 30            Steve Hutton, president of the local
downtown Postal Square Building                       students to help them develop                     nursery, have been instrumental in the
providing an atmosphere appropriately                 promotional posters and solicit local             success and growth of the event. For
rich in history and elegance. Jack Ford,              businesses for support.                           many years they have generously
formerly of ABC News’ 20/20, and                          “I don’t want to just raise money. I          donated more than three-quarters of
Greta Van Susteren, former host of                    want people to know about TS,” Kayla              the plants sold. This year a new rose
CNN’s The Point and the newest                        said. Kevin Klaeren, principal of                 hybrid, the Colleen Mary rose named
addition to the Fox News Channel team                 Swartz Creek Middle School, said it’s             in honor of the Goodrich’s daughter,
with On the Record, served as honorary                fairly rare for students to initiate such         was premiered. The red hybrid tea
chairpersons. The event sold out with                 efforts. “She’s been very persistent and          rose will be available for purchase in
approximately 300 in attendance and                   mature about it.” The event was                   2003 and for each sold, Conard-Pyle
raised more than $50,000 net for TS                   successful in raising $3,000 for the TS           will donate $1 to the TS Alliance.
Alliance research and programs.                       Alliance.                                             “Last weekend proved that a small
      One of the evening’s highlights was                 For Kayla, drawing attention to the           group of committed people can make
t h e p re s e n t a t i o n o f t h e f i r s t TS   disorder won’t end with the bowl-a-               a terrific impact when they work
A l l i a n c e “ C h a m p i o n Aw a r d ” t o      thon. She and her family hope to                  together,” said Becky Bull, vice president
Congresswoman Sue Kelly of New                        continue spreading the word in other              of development and communications
York in honor of her efforts for raising              ways.                                             at the TS Alliance. “The dedication
congressional awareness and support                       F o r K a y l a’s c o m m i t m e n t t o     and hard work put forth by Burt and
for tuberous sclerosis (TS) research                  supporting the mission of the TS                  Sue Goodrich, along with the support
through her work introducing and                      Alliance, the organization has honored            of Conard-Pyle and the 60 volunteers
promoting the passage of House                        her with the TS Champion award,                   serves as an inspiration to all whose
Concurrent Resolution 25 (H.CON.                      presented in recognition of Kayla’s               lives have been affected by TS.”
RES.25) in February of 2001.
      Though this was the first food and
wine tasting event held in Washington,
D.C., the TS Alliance has a long history                                                                             JoEllen West organized a
of similar events. Andrew Bott, member                                                                               musical benefit in honor
of the TS Alliance Board of Directors,                                                                               of her son Davis at the
and his wife Mary have been organizing                                                                               O.C. Jamboree in Ocean
the Garden State Food and Wine                                                                                       C i t y, Ma r y l a n d . T h e
Tasting event in their home state of                                                                                 benefit raised $3,000 with
New Jersey for almost a decade. The 9th                                                                              the support of the local
Annual Garden State Food and Wine                                                                                    community. The guests
Tasting was held in February of 2001.                                                                                were treated to a musical
The February event netted $100,000                                                                                   v a r i e t y s h o w, s i l e n t
with more than 400 in attendance. A                                                                                  auction and hors
special thank you is extended to both                                                                                d’oeuvres. Thank you to
Andy and Mary for organizing both                                                                                    JoEllen and her family for
events to benefit the TS Alliance.                     The West Family: Cameron, Shannon, Gary, Jo Ellen and Davis   organizing this event.

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
Volunteers across the country organize      October 3                                      Step Forward to Cure Tuberous
events to benefit the TS Alliance.          TS Alliance of Orange County’s Golf        Sclerosis was held at PEASE Inter-
Below is a listing of special events that   Classic                                    national Port Authority in Portsmouth,
you may want to participate in. For         Black Gold Golf Club                       New Hampshire on a sunny May 26.
more information, please call the           Yorba Linda, California                    Many thanks to Travis Allen for his
listed contact person to see how you        Contact Lee Ann Addison:                   incredible leadership, Tom Gwinn for
can become involved.                        (949) 495-7126                             heading up corporate sponsorships,
                                                                                       Tracey Hutchinson for developing
                                                                                       walk materials and support of the
                                            Step Forward to Cure                       event and the entire New England
        Tour of                             Tuberous Sclerosis                         Community Alliance.
        Champions Golf                                                                     Volunteers are also organizing walks
        Tournemant                                                                     in their local communities to raise
        Schedule                                                                       a w a re n e s s a n d f u n d s . I f y o u a re
                                                                                       interested in organizing one, please call
July 22                                                                                Becky Bull at (800) 225-6872.
TS Charity Golf Scramble
Shaker Run Country Club                                                                September 14
Cincinnati, Ohio                                                                       Busse Woods Forest Preserve
Contact Doug Loftus:                            The TS Alliance has developed a        Elk Grove, Illinois
(513) 554-6000 or (800) 541-2950            logo and planning manual for walk-a-       Contact Jenny Smiley:
                                            thons. Walk-a-thons are a great way to     (630) 872-0189
August 1                                    increase awareness of TS and raise
Courtney Leigh Small Steps Golf             much needed funds for TS Alliance          September 29
Tournament                                  programs and research efforts. For         Downtown Saline
Knoll West Country Club                     those interested in learning more about    Saline, Michigan
Parsippany, New Jersey                      planning or participating in a walk-a-     Contact Nancy Carter:
Contact Frank Gallagher:                    thon visit the TS Alliance Web site at     (734) 663-5623
(973) 267-5511                    
                                                The TS Alliance of New England         October 6
August 19                                   successfully piloted Step Forward to       Marlboro Township Recreation Center
PMA Caddy Shack Golf Tournament             Cure Tuberous Sclerosis. As the first      Marlboro, New Jersey
Whitney Farms Country Club                  walk-a-thon nationwide, members of         Contact Celia Mastbaum:
Monroe, Connecticut                         the New England Community Alliance         (732) 492-5940 /
Contact Angelo Vakos:                       enthusiastically set the standard for
(203) 348-3370                              others planning walks across the
                                            country. Seventy-five individuals
August 23                                   helped raise more than $23,000.            Six-year-old Brandon Hargreaves (diagnosed
                                                                                       with TSC at eleven months old) with his Mother,
Maria L. Anderson Charity Golf Classic                                                 Lisa Hargreaves, at the half-way point of the TS
Fairfax National Country Club                                                          Alliance of New England Walk for a Cure 5K
Centreville, Virginia                                                                  Walk-A-Thon.
Contact Bud Anderson:
(703) 425-0921

Summer 2002
Utah Cup Golf Tournament
Salt Lake City, Utah
Contact Rob Thurston:
(801) 765-4417

September 30
Emmory Regan Shapses Golf Classic
Old Westbury Golf & Country Club
Old Westbury, New York
Contact Marc Shapses:
(212) 326-8678

 15    SUMMER 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                                S I M P LY TA L K I N G                          were not sure if he would be blessed
                                             By Barbara Klein, a grandparent from the         with speech. When he was younger, the
                                             Boston area and member of the TS Alliance        prognosis was poor that he would ever
                                             of New England                                   have the ability to talk in full sentences.
                                                                                              Today, our hope has become a reality
                                                 I am very fortunate to live close to         due to his self-motivation, his devoted,
                                             my eldest daughter and her family:               loving parents and some very caring
                                             Elysa, Tom and their children, Robbie, a         speech therapists.
                                             5-year-old with TS, and Brad (2). As a               I know that the strength, intelligence
                                             semi-permanent fixture in their house-           and courage my grandson has exhibited
                                             hold, my role is one of nurturing,               in his short five years will continue to
                                             supporting and bonding with my grand-            be his steady companion throughout
    It is always neat to know how other      children. We spend lots of time together,        his journey. I hope that the gift of
grandparents touch the lives of their        whether it is reading a story, singing silly     laughter will also always accompany
very special grandchildren. In this issue,   songs, hunting for bugs, dancing around          him along the way.
one grandmother’s letter comes alive         the room or just laughing and talking.           Barbara Klein and Robbie
with love as she relates her feelings of         One of my favorite things to do
great joy and gratitude. What beautiful      with Robbie is to simply talk with him.
times she and her grandson share, and
                                             Sometimes the conversation evolves
what a huge gift this is to both them
and their whole family.                      around his favorite fairytale characters.
    Read, too, about a granddad who          Other times he tells me about the gold
has joined the popular “Tour of              finch or cardinal he has just seen land at
Champions” by hosting a golf event.          the bird feeder outside the kitchen
What a marvelous way to transfer             window.
love, concern and energy into                    You see, talking with Robbie is very
tuberous sclerosis (TS) awareness and        special because there was a time that we
to raise significant funds directed to
progress and expanded hope.
    Yes, you grandparents have been
busy! You have participated in this
year’s STAMP OUT TS letter-writing           G OLFING            FOR A         C URE              I decided I could help in raising
campaign. You are signed onto the            By Bill Brown, a grandparent from Florida        funds by organizing a golf tournament.
annual Gift-Wrap Campaign. You are                                                            People began introducing me to others
advocating support of TS research via            My grandson Matthew (Matt) was               who they felt might be
your government representatives. You         diagnosed with TS at the age of 4 during         able to help. We formed
have downloaded a software program           an eye exam. The ophthalmologist                 a committee and
that actually allows TS scientific           noticed characteristic lesions on his retinas.   decided to call our fund
research to take place whenever your
                                             After consultation with a dermatologist,         raiser “ The Golfer’s
computers are on. And the list goes
on of amazing, heartwarming stuff!           the diagnosis was confirmed.                     Charity Tournament” to
    As grandparents, we may be                   Matt is now 19 years old. Although           benefit the Tuberous
different in lots of way, but our            he has never had a seizure, he does have         Sclerosis Alliance.
common bond is our strong love of            tubers and a giant cell tumor in his                 T h i s y e a r, w e
family and our desire to minimize the        brain. Matt also has tumors in his               anticipate having 80 to
challenges that TS imposes. Love does        kidneys. He graduated from high school           100 golfers. If you
work wonders!                                two years ago and has been employed in           would like to learn
                                             various positions, but has suffered from         more about this golf
                                             depression for years and has always had          tournament, please
Please send me your questions,               behavior and socialization problems.             contact Bill by calling
comments, suggestions and stories to:
                                                 Most people I talked with had never          (904) 291-8987 or
Shonnie Johnson                              heard of TS, so it was important for me          send an e-mail to
11776 Stratford House Place                  to learn as much as I could about it. It
Unit 1309                                    was while attending the Tuberous
Reston, VA 20190                             Sclerosis Convention in 1999 that I
Phone: (703) 456-0248
                                             learned more about this condition                     Bill Brown (top) and his
Fax: (703) 456-0221
E-mail:                     affecting my grandson.                                      grandson Matthew
Graduate With TS Sparks                                                                      Endowment
Donation to Endowment Fund                                                                   Fund Chair
                                       With her proud family
                                                                                             Mark Hyman, M.D.
                                       in attendance, Lauren
                                       Krinsky graduated on
                                       May 10, 2002, from
                                       t h e Un i ve r s i t y o f
                                       Southern California
                                                                     Y    ou may recall that in past columns I have
                                                                          highlighted some of the ways people can give to
                                                                     the Tuberous Sclerosis Alliance (TS Alliance). In the
                                       with a B.A. in English.       last issue (Spring 2002) I discussed annuities, which
                                       Lauren, who was               began with estate planning. As I mentioned, in most
                                       diagnosed with                cases people plan giving throughout their lifetime.
                                       tuberous sclerosis (TS)       However, expectancies allow planning after a donor
                                       at the age of 14, is one      has passed away. While this is a sensitive topic, many
of the lucky individuals who is mildly afflicted with minor          people will find this information to be quite helpful.
skin manifestations and a few brain lesions.                             Basically, an expectancy is when a person
    To honor Lauren’s accomplishments, last year her parents         commits to giving a donation after settling all the
David and Cathy Krinsky established the Lauren E. Krinsky            affairs of their estate. For instance, if you die, a
Fund as part of the Tuberous Sclerosis Alliance (TS Alliance)        person you previously designated, a decedent, takes
Endowment Fund with a donation of $25,000. This year                 over the estate and carries out your wishes. They sell
Cathy, a director on the endowment fund board, was able to           whatever assets you still have, such as a house or
secure a generous donation from David’s law firm                     stock. The decedent then gives whatever you asked to
O’Melveny & Myers, LLP, that more than doubled the                   be donated to the recipients of your choice, such as
endowed fund. Thank you O'Melveny & Myers!                           your children or grandchildren.
    Lauren’s other family members have joined in supporting              A problem arises when your estate is larger than
the TS Alliance, including her grandmother Jean Meredith,            the limits placed by the government. In other words,
who raised more than $3,000 last year in the STAMP OUT               while you can give to a spouse in an unlimited
TS letter-writing campaign. And Lauren’s grandfather Peter           manner, the government will limit gifts to others.
Meredith donated a similar amount as a tribute to her.               While you can give above the limit to family, the
    The Krinsky family encourages other families to donate           government taxes it quite heavily, usually over 50
to the endowment fund. Money is needed to continue                   percent.
research towards finding a cure, as well as to provide support           In response, many people decide to limit the
services for those already affected.                                 amount they give to family and friends so that the
    “A donation to the endowment fund is a gift that keeps           government will not get any of their money. They
on giving. As the endowment grows over time through                  would rather have a charity benefit from the money.
donations and investments, the yearly donation from                  Through an expectancy, you can document in your
generated interest from the endowment to the TS Alliance             will a designated amount that will go to a charity. It
general operating fund will grow, providing funding for              could be a percentage of money, a flat amount, an
both critical needs and exciting opportunities. And in our           asset that is sold or an insurance policy. This latter
lives, there is nothing more important than supporting the           option is quite common. People will buy insurance
goals of TS Alliance," says Cathy. “Together, we can make            and the policy pays out when they pass away.
a difference.”                                                           Many individuals have donated to the TS
                                                                     Alliance through this means. They will buy the policy
                                                                     and designate our organization as the beneficiary. Or,
Endowment Fund Giving Update                                         the donor may ask that some of the money go to
                                                                     cover taxes and that the remainder comes to us. The
The Tuberous Sclerosis Alliance Endowment Fund is                    TS Alliance Endowment Fund currently has
pleased to announce its second donation to the TS                    expectancies near $10 million.
                                                                         If yo u a re i n t e re s t e d i n d o n a t i n g t o o u r
Alliance of $25,000 for the 2002-03 fiscal year. Under
                                                                     organization through an expectancy or any other
close management, the endowment fund remains valued                  means, feel free to contact Becky Bull, vice president
at nearly $1.2 million. Thank you, as always, for your               of development and communications, at (800) 225-
continued support. We guard it wisely.                               6872 or by e-mail at

 17    SUMMER 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: Join Our
C    ommunity Alliances provide a
     local connection for individuals
across the country to join the
                                                     mittee is working on the establish-
                                                     ment of a coordinated care clinic in
                                                     Atlanta. Polly Hyatt has graciously
Tuberous Sclerosis Alliance (TS                      agreed to chair the alliance, while
Alliance) movement and to get                        Patrick Schulte is serving as the vice
involved. The volunteer committees                   chair and facilitator of the Support
host community gatherings and                        Ne t w o rk . Re i k o Do n a t o i s t h e
support groups, plan community                       coordinator of outreach and
fund raisers and increase the                        awareness; Lynn Johns is chair of the
                                                                                                        It is just the beginning for the New England
awareness of tuberous sclerosis (TS)                 STAMP OUT TS letter-writing                        Community Alliance team as they hold their
in their local community. Below are                  campaign; Heidi Sprinkle is co-                    first meeting. Pictured here are the alliance
                                                                                                        leaders (left to right): Tracey Hutchinson, Elysa
some highlights of upcoming                          coordinator of the Community                       Seymour, Silvana Flynn, Jeffrey Hargreaves and
activities and opportunities for you                 Fund-Raising Committee; Debbie                     Tom Gwinn. Not pictured: Travis Allen.
to get involved.                                     Po u l o s i s t h e c o m m u n i c a t i o n s
    We are pleased to introduce                      coordinator; and Chris and Jay                     Network; Jeffrey Hargreaves is
volunteer leaders and future                         Jo h n s o n a r e p r o g r a m / s p e a k e r   coordinator for outreach and
activities of our four newly formed                  coordinators.                                      awareness; and Travis Allen and Tom
Community Alliances:                                                                                    Gwinn are co-coordinators of
                                                     TS Alliance of Metro New York is                   Community Fund-Raising. Jeffrey
TS Alliance of Central New Jersey is                 planning quarterly support group                   Hargreaves recently ran the Boston
currently seeking a chair to lead their              meetings with speakers beginning in                Marathon in honor of his son
activities. Robin Williams has agreed                September, and family events in                    Brandon and friend Rachel Corbett
to be the coordinator for outreach                   December and June 2003. Volunteers                 to raise awareness of TS.
and awareness. Celia Mastbaum is                     will also be working on the return of
chairing Step For ward to Cure                       the NYC Comedy for a Cure co-
Tuberous Sclerosis, a five-mile walk-                chaired by Francine Ostrow and Liz                 Upcoming Events and
a-thon to be held on October 6.                      Buchsbaum. Francine has also agreed                Activities
Other planned activities include                     to serve as chair of the alliance. Lucy
informational community gatherings                   Albers is vice chair; Allison Peckham              TS Alliance of Dallas/Ft. Worth
with speakers in early November                      is the facilitator of the Support                  Area is holding a potluck com-
2002 and March 2003, as well as a                    Ne t w o r k ; a n d Pe g g y a n d To m           m u n i t y l u n c h o n Ju l y 2 0 a n d
family picnic in May 2003.                           Lindsey are co-coordinators of                     informational community gatherings
                                                     Community Fund-Raising.                            in September and March. For more
TS Alliance of Greater Atlanta is                                                                       information, contact Maria Cole at
planning a family picnic in July,                    TS Alliance of New England is            
support group meetings in September                  planning quarterly informational
and November 2002, and February                      community gatherings with speakers.                TS A l l i a n c e o f Me t ro D . C . i s
                 a n d Ma y 2 0 0 3 ,                The next gathering is scheduled for                planning a July family picnic and
                 with featured                       September 29 at Massachusetts                      support group meetings with speakers
                 speakers. An                        General Hospital, featuring an                     in September 2002, and January,
                 outreach com-                       update on the Scientific Conference                April and June 2003. For more
                                                     by Elizabeth Thiele, M.D., Ph.D.                   information, contact Donna Banks at
                        The Atlanta/N. Georgia       The alliance’s spring walk-a-thon        
                        Community Alliance           raised $23,000 to date. Two family
                        comes together for an
                        organizational meeting.      events per year are also being                     TS Alliance of Northern California
                        Pictured here are (left to   planned. Elysa Seymour is serving as               is hosting a family picnic and garage
                        right ) Al ex Don a t o,     the first chair of the alliance. Tracey            sale in August. Additional
                        Reiko Donato, Heidi
                        Sprinkle, and Heidi’s        Hutchinson is the vice chair; Silvana              community gatherings will be held in
                        son Hampton.                 Flynn is facilitator of the Support                October, and April and June 2003.

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
For more information, contact Diane           TBA. For more information, contact                       • TS Alliance of Los Angeles on July 21
Burgis at (510) 538-0544 or Colleen           Shana Riley at                      (1 to 3 p.m.), hosted by Christy Hobart.
Schleich at
                                              TS Alliance of the Upper Midwest                         • TS Alliance of Tulsa on August 4
TS Alliance of Orange County                  is planning four informational                           (2 to 4 p.m.), hosted by April Bennett.
continues to hold monthly support             community gatherings with speakers
group and business meetings the first         in September and November 2002,                          • TS Alliance of Pittsburgh in
Monday of each month. The Golf                and February and April 2003. For                         October 2002.
Classic is being held on October 3 at         more information, contact Laura
Black Gold Golf Course. If you are            Palmer at or                         • TS Alliance of Chicagoland on
interested in participating in the Golf       Sherri Trapp at                   October 20 (2 to 4 p.m.), hosted by
Classic or for more information on                                                                     Lori Iverson.
the monthly meetings, contact April               For more updates on Community
Cooper at              Alliance meetings and local activities,                  • TS Alliance of Phoenix/Tucson on
or Lee Ann Addison at (949) 495-              please visit the TS Alliance Web site                    November 3 (1to 3 p.m.), hosted by Denise
7126 or                  at and click on                       Hess, Debora Moritz and Kim Svob.
                                              “Community Alliances”.
TS Alliance of the Rocky Mountain                                                                           If you are interested in helping
Region hosts monthly support group                                                                     organize any of the meetings,
and business meetings the third               New Alliances Being                                      volunteering in the alliance or serving
Saturday of each month at Denver              Formed                                                   in a leadership role, please contact
Children’s Hospital, noon to 2:30                Summer and fall meetings are                          Kari Carlson, director of community
p.m. On July 20, there will be a              being planned for the formation of                       alliances, at (800) 225-6872 x 22 or send
family potluck gathering, location            new alliances. These include:                            an e-mail to

Four Who Made a Difference
I  t started very simply. Four mothers
   came together with a commitment
to provide local support for families
                                              have actively par ticipated in the
                                              National Outreach and Awareness
                                              Campaign, distributing up-to-date
facing tuberous sclerosis (TS) and to raise   information on TS to medical
awareness in their local community            professionals.
                                                                                                       The fabulous four creators of the TS Alliance of
–very similar to the formation of the              By the summer of 2001, the TS                       Orange County and their current team. Top
Tuberous Sclerosis Alliance (TS Alliance).    Alliance of Orange County hosted their                   r ow : Ap r i l C o o p e r, Sh e r i Jo n e s , Je a n n e
                                                                                                       Whitaker, Tiffani Goff (Jeanne’s daughter), and
In this case it was Lee Ann Addison, April    first annual Southern California TS                      K a t h y R o s e n a u . B o t t o m R o w : He a t h e r
Cooper, Tiffani Goff and Sheri Jones.         family picnic. The second annual                         Whitaker (Tiffani's sister) and Lee Ann Addison
    Their first meeting was in February       family picnic is planned for July 28                     (Kathy’s sister).
2000. Lee Ann and Jim Addison hosted          (12:30 to 3 p.m.) at Doheny State Park                   Club in Yorba Linda, California. The
seven families at their home for a            in Dana Point.                                           goal of the event is to increase awareness
luncheon. After this first meeting, the            Together with other parents in Los                  of the disorder while raising crucial
four mothers came together and said,          Angeles, this group is working to                        funds to support research towards
“We need to do more.” This was the            establish a TS coordinated care clinic.                  finding a cure and programs to support
beginning of the TS Alliance of Orange        The clinic will be available to families                 families dealing with the day-to-day
County (CA).                                  throughout the region and provide                        challenges of TS. Scott Clarkson chairs
    Their community outreach began            services from medical professionals                      the event, and seven other local families
in the summer of 2000 with monthly            s p e c i a l i z i n g i n t h e d i f f e r e n t TS   are involved in the planning.
support meetings. These monthly               manifestations.                                              Through the combined efforts of
gatherings continue today. That fall               Now this expanding Community                        these local activities, the TS community
they initiated a letter-writing campaign      Alliance is engaging in what will                        in Orange County has created first-
that raised more than $30,000 and held        become a major annual fund-raising                       time connections between individuals
a TS awareness fundraiser at a local          event in Orange County. The TS                           and families facing TS. And it all
restaurant to meet and educate more           Alliance of Orange County Golf Classic                   started with four individuals saying,
families and friends. And, this year they     is October 3 at the Black Gold Golf                      “Let’s do more.”

 19     SUMMER 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
Finding Homes for Adults with TS
T    here are more residential options
     a n d re l a t e d s u p p o r t s e r v i c e s
available to adults with disabilities than
                                                        also live at the home during the week
                                                        and visit their families on weekends.
                                                        • Supervised Apartments enable an
                                                                                                       • Fi n a n c i a l S o l ve n c y – C o m p a re
                                                                                                         providers’ financial stability before making
                                                                                                         your final selection. Is it well managed?
ever before.                                            individual to live in an apartment with
    The first step that individuals with                minimal assistance, possibly with a                Before making the final selection,
tuberous sclerosis (TS) and their                       roommate or alone. This choice may             visit the programs and talk with the
families need to take is to educate                     work well for individuals who prefer to        management team, staff, and
themselves about the residential                        live with fewer people, but still require      consumers who receive their services.
programs available in their community.                  some assistance. Often, a supervised           Also be sure that the person with TS,
    If the individual with TS is a                      apartment setting can prepare an               appropriate family members and other
school-aged child or young adult who                    individual who wants to move to a              advocates (case managers, counselors,
may need support with housing as an                     more independent living arrangement            etc.) meet with the team to discuss the
adult, it is never too early to begin this              in the future.                                 needs and expectations of the adult
search. Many programs have long                         • Respite Care for adults with TS can          who will be receiving services. When
waiting lists, so the sooner an                         provide a much-needed break for                the services to be provided are agreed
appropriate living arrangement is                       family members and/or other                    upon, get it in writing with signatures.
identified, the better. Programs will                   caregivers. Programs may range from
vary greatly by geographic area. The                    providing a substitute caregiver for a         Getting Started
programs described below may or may                     few hours each week to temporarily                  The agencies and resources listed
not be available in your city or town.                  placing the individual in a special            below can provide more information
                                                        respite home for a specified period of         about selecting an appropriate living
Types of Residential                                    time. Two useful resources are The             arrangement and where to find
Programs                                                National Respite Locator Service at            residential programs in your
    When searching for a residential                    (888) 671-2594 or               community.
program, the goal should be to locate a                 locator.htm and The Epilepsy Foundation        • Local chapters of national advocacy
situation that provides the assistance                  at (800) 332-1000 /               groups, such as The Arc or United
and support an individual needs, while                                                                 Cerebral Palsy. Check local phone
simultaneously providing an                             What to Look For                               listings for contact information.
opportunity for him or her to be as                     When Selecting a                               • How to Choose a Provider–A Guide
independent and self-sufficient as                      Residential Program                            From CARF, published by the
possible. Be sure to investigate any                        Once a program or programs have            Commission on Accreditation of
program before making a final choice.                   been identified that might be a good           Rehabilitation Facilities (CARF), this
So m e e x a m p l e s o f t h e p r o g r a m s        match for the adult with TS, be sure to        guide provides a detailed list of questions
frequently used by people with                          evaluate the following:                        to ask providers of services to persons
disabilities are described below:                       • Philosophy–What is the agency’s              with disabilities. Also available in
• 24-Hour Care Homes and Nursing                          vision? Does the program empower             Spanish. Contact CARF at (520) 325-1044
Facilities provide round-the-clock                        individuals to make their own decisions?     or
supervision and assistance for all daily                • Environment–Is it supportive?                • The–Provides information
living activities for individuals with                  • Programs Offered–Do the programs             on home and community-based services.
very severe disabilities. A psychological                 offered meet most of the individual’s        Users can search by state, zip code and
assessment and medical examination is                     requirements?                                the type of service provided. Click on
required for placement.                                 • Location–Is the program located              “Provider Search” after entering the site:
• Supervised Group Living or Group                        close to the person’s job or other day E-mail:
Homes are usually housed in a single                      activity? Is it near family and friends?     • Independent Living Centers (ILCs)
family home located in the community                      Is there access to public transportation?    offer ser vices to help people live
that serves several individuals with                    • Size & Staffing–Compare staff                independently by assisting with access
disabilities. Homes are staffed by                        ratios. Ask about staff wages,               to housing and other social services.
professionals who assist individuals                      benefits, training and turnover.             Assistance may include independent
based on their need, which may include                  • Human Rights/Abuse Records–Has               living skills training, peer counseling,
personal care skills, meal preparation                    the agency ever been cited for violations?   and other services. To find the ILC in
and housekeeping. Residents may go to                     The local chapter of The Arc or other        y o u r s t a t e , v i s i t t h e i r We b s i t e :
work or other day program and return                      disability groups can frequently share
home at the end of the day. They may                      an agency’s history in this area.

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
Getting Involved, Making a Difference
                                                     Matching Program
T    he Tuberous Sclerosis Alliance
     (TS Alliance) offers many oppor-
tunities for individuals to participate
                                                         Parents and individuals whose
                                                     lives have been affected by TS are
                                                                                                            ations that will guide the future of
                                                                                                            programming for our constituents.
                                                                                                                The TS Alliance could not have
in activities through the organization.              often asked to make difficult                          completed this project without the
Below are some ways that individuals                 decisions. Through the Matching                        incredible generosity of Consumer
have recently been involved. Contact                 Program you can share your                             Insights and Dieter Tabs, Inc. Both
the TS Alliance if you want to know                  personal knowledge with others on a                    companies donated considerable
how you can participate.                             variety of subjects that include                       time and resources to create the
                                                     a d vo c a c y, s u r g e r y, e d u c a t i o n a l   analysis and report the findings and
Outreach Committees                                  rights, transitional topics, estate                    recommendations based on the
    This year, 16 volunteers served on               planning, college scholarships and                     responses that were received. Thanks
the four outreach ad hoc committees.                 employment.                                            also to volunteer Reiko Donato for
These committees helped develop the                      More than 70 constituents have                     her outstanding efforts.
c o n s t i t u e n c y s u r v e y, c r e a t e a   already accepted the invitation to
behavioral/cognitive section for the                 participate in the Matching Program.                   List Serves
Tuberous Sclerosis Journal, prepare a                If you would like to know more about                       The TS Alliance now offers the
professional education plan for                      the program, contact Linda Creighton                   opportunity to build our online
outreach to medical professionals,                   at or                   community through four list serves.
and develop strategies for outreach to               (800) 225-6872. Request an                             These forums provide a way for
tuberous sclerosis (TS) clinics across               application today! Someone is                          individuals to share their successes,
the country. The commitment made                     waiting to talk to you about your                      challenges, resources and support.
by these individuals is yet another                  personal experiences.                                  List serves currently being offered by
example of how volunteers can make                                                                          the TS Alliance include:
a difference through the TS Alliance.                Constituency Survey
    The organization extends its sincere                 Thank you to all the individuals                   • TS Adults
appreciation to the following                        that took the time to complete the TS                  • Parents and Caregivers
individuals who devoted their time and               Alliance constituency survey. Your                     • Parents of Teens Transitioning to
talent this past year: Diane Burgis,                 par ticipation was impor tant in                         Adulthood
April Cooper, Reiko Donato, Thistle                  understanding the needs of those                       • Grandparents
Elias, Candace Erickson, M.D., David                 affected by tuberous sclerosis and
Franz, M.D., Lori Iverson, Sue Kramer,               how the TS Alliance services can                           If you have Internet based e-mail,
R.N., Robin Krantz, R.N., Arien                      better assist you. Analysis from the                   you too can join a list serve. For a free
Malec, Cecelia McCarton, M.D.,                       surveys has been completed and the                     subscription, please visit the TS
Debora Moritz, Jessica Parish, Francine              TS Alliance Board of Directors is                      Alliance Web site at
Pearson, Mary Seward and Eric Stake.                 considering proposed recommend-                        and click on “Online Communities”.

TS Drug Discovery Update: We Need You
   There are currently about 1,600                        However, we need thousands                        w w w. t s a l l i a n c e . o r g . T h e re i s a
people participating in tuberous                     more to participate in order to move                   headline on our home page about
sclerosis drug discover y efforts                    research forward at a more rapid rate.                 how you can join this effort! It is
through the Rothberg Institutes                      Participants, please encourage your                    simple, safe, and does not interfere
"Community TSC." We want to                          family and friends to download the                     with your computer operations. As
convey our appreciation to those                     program. If you are not currently                      always, we do recommend backing
who have joined this effor t by                      participating, we need you!                            up your system prior to installing
simply downloading the screensaver                        S i m p l y g o t o t h e Tu b e r o u s          any new software program.
program.                                             S c l e r o s i s A l l i a n c e We b s i t e a t

 21      SUMMER 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
Useful Resources                                                                                                             Tuberous Sclerosis
                                                                                                                             Alliance Staff
                                                                                                                             contact Information
Books                                                  Web Sites                                                             All TS Alliance staff members can be
                                                                                                                             reached at the toll-free office number
                                                                                                                             (800) 225-6872, or through their e-
              Title: From Emotions to Advocacy:        Source: or                           mail addresses.
              The Special Education Survival           Outreach/seehear/fall97/sensory.htm
                                                                                                                             Michael Coburn
               Guide                                   Title: Sensory Integration in Children                                President and CEO
               Author: Wright, Peter W.D.;             Abstract: Children with sensory problems often              
               Wright, Darr Pamela                     are either hyper-reactive or unresponsive to their                    Vicky Whittemore, Ph.D.
                Source: Harbor House Law               environment. These Web sites offers insight,                          Director, Center Without Walls and
                Press, Inc.: Hartfield, VA 23071.      suggestions and understanding about sensory                           Senior Science Advisor
                 To order, call (804) 758-8400.        integration.
                 Abstract: This practical, user-                                                                             Becky Bull
                  friendly book includes strategies,   Source:                                         Vice President of Development and
         tips, references and Internet resources       Title: Lindamood-Bell Learning Processes                              Fund-raising programs, major gifts,
pertaining to special education.                       Abstract: Lindamood-Bell is an organization                           special events, membership and
                                                       dedicated to enhancing human learning. The                            volunteer program
           Title: Seeing Stars: Symbol Imagery         educational programs stimulate basic sensory
            for Phonemic Awareness, Sight Words        f u n c t i o n s re l a t e d t o l e a r n i n g . C e n t e r s    Kari Luther Carlson
             & Spelling                                throughout the U.S. offer one-on-one                                  Director of Community Alliances
                                                                                                                             Volunteer committee development
             Author: Bell, Nanci                       instructional programs. Call (800) 300-1818 to                        and major gift fund raising
              Source: Gander Publishing: 416           locate a center close to you.                               , alternate
              Higuera Street, San Luis Obispo,                                                                               phone: (763) 434-3455
               CA 93401. To order call (800)           Source:                                      Linda Creighton, M.S.W.,
               554-1819 or (805) 541-3836.             Title: Kids Move                                                      L.C.S.W.-C.
                                                                                                                             Program Manager, Advocacy and
                Abstract: The book gives theory        Abstract: Millions of children have difficulty                        Outreach
                and specific steps to teach you a      controlling their body movement. This Web site                        Patient and family advocacy and support
             new program about symbols,                is devoted to pediatric movement disorders. It              
phonemics, sight words and spelling.                   offers information for parents and health care                        Cheryl Dunigan, Ph.D.
                                                       professionals about the recognition, assessment,                      Vice President of Scientific Affairs
                                                       treatment and avenues of support for those who                        Provide direction and coordination of
                                                                                                                             scientific activities
Journals                                               are concerned with childhood movement                       
           Title: The Journal of The Association                                                                             Nicole Engdahl
                                                                                                                             Director of Donor Relations
            for Persons With Severe Handicaps                                                                                Development, major gifts, annual
             (JASH)                                                                                                          campaigns
             Source: The Association for               Free Special Education                                      
              Persons With Severe Handicaps:           E-Mail Newsletters                                                    Jackie Heimbuch
              29 W. Susquehanna Avenue, Suite                                                                                Controller
                                                                                                                             Finance and risk management
               210, Baltimore, MD 21204. For           Source:                 
               a subscription, call (410) 828-         Title: Education Week
                8274 or write to the above             Abstract: Weekly newsletters for teachers,                            Tiffany Jones
                                                                                                                             Development Assistant
                address.                               administrators, policymakers, parents or anyone                       General inquiries and requests
                Abstract: JASH is a quarterly          seeking updates on educational issues.                      
journal that publishes abstracts from The
                                                                                                                             Holly Knorr
Journal of Education, Exceptional Child                Source:                                         Director of Medical and Scientific
Education Resources, Social & Behavioral               Title: Families for Early Autism Treatment                            Alliances
Sciences, PsycINFO & PsycALERT, Psychological          (FEAT) Daily Newsletter                                               Grants administration, tissue donation
                                                                                                                             program and professional education
Abstracts and others.                                  Abstract: The newsletter offers up-to-date                  
                                                       information about recognition, assessment and
             Title: Focus on Alternative &             treatment options for autism.                                         Marybeth Leongini
                                                                                                                             Director of Communications
             Complementary Therapies (FACT):                                                                                 Publications, media relations,
              An Evidence-Based Approach               Source:                             communications and Web
              Source: Pharmaceutical Press             Title: Get Ready to Read, a program of the                  
               (PhP): 1 Lambeth High Street,           National Center for Learning Disabilities
               London SE 1 7JN, UK. For a              Abstract: Free newsletters offering suggestions                       Rachel Loock
                                                                                                                             Program Coordinator
                subscription, call 44(0)1491 829       and tools to help children get ready to read.                         “Life Stages Guide Program,” state and
                272, e-mail: or                                                                               national resource identification
                 write to PhP, P.O. Box 151,                                                                       
                 Wallingford, Oxon OX10                                                                                      Linda Rogers
                 8QU, UK.                                                                                                    Executive Assistant to the President
Abstract: FACT is a quarterly journal that                                                                                   Administrative support to board of
                                                                                                                             directors and president
explores alternative and complementary therapies.                                                                  

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
                                                                                  Coming Up…
Memorials (January 31, 2002 – May 31, 2002)                                       Adult Teleconferences
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
                                                                                  This Fall
                                                                                  The Tuberous Sclerosis Alliance ( TS
family and friends of those memorialized below. These generous contributions
                                                                                  Alliance) is offering teleconferences for
support the progress of our mission to find a cure for tuberous sclerosis.
                                                                                  adults with tuberous sclerosis (TS) this fall.
Maria Anderson            Joseph Holubowicz          Else Pearlman                To find out more about this exciting
Elsie Barbknecht          Joseph Hovaniak            Kristin Porch                opportunity, contact Linda Creighton,
William P. Burke          Carl E. Jensen             Lucille Purcell              program manager for outreach and
Mariquita Cohen           Margaret Johnson           Fleta G. Rollins             awareness, at
Marilyn Collins           Ogden Johnson              Glenn Rolston                or call (800) 225-6872. Those who will be
Marjorie Cook             Richard Koch               David Ruskin                 participating will be given a toll-free number
William P. Corcoran       Staten E. Laseter          Burton Schatz                and code to access the teleconference.
William Corse             Jeanne Lester              Harvey Schatz                Limited space is available, so sign up today!
Robert Doll               Steven Markovitz           Milton Superstine
Heidi Erb                 Paul A. Marshall           Ray Tollefson                Fall Support Group in
Lillian Finn              Robert G. Mathieson        Georgia Mae Tucker-Lambert   D.C.
Jack C. Gallalee          Teresa Miller              Earl Van Hise                Adults with TS living in the Washington,
Jim Gartenberg            Janet Kay Mulholland       Ike Wenger                   D.C., metro area, including Delaware,
Edgar Griffin             Joanne Noyes               Dwight Williams              Virginia, and Maryland, are invited to
Edward Grimpel            Jackie Olivo               Catherine Winter             participate in a local support group. The
Dick Hass                 Guy Oswalt                                              location of the support group will be
Carol Hearn               Victoria Palmer
                                                                                  determined depending on those who plan to
                                                                                  participate. Look for more information in
                                                                                  the next issue of Perspective about this
                                                                                  opportunity or contact Linda Creighton,
Honorariums                       (January 31, 2002 – May 31, 2002)               program manager for outreach and awareness
You can honor a friend or family member for an important occasion with a          at or call
gift to the TS Alliance. It is a wonderful way to send a birthday or              (800) 225-6872. Again, space is limited, so
anniversary wish, or congratulations for retirement, a job well done,             sign up now!
graduation, etc. Please include the name and address of the individual being
honored so that acknowledgement of your kind donation can be sent.
Timothy Addison
Alan Anderson
                          Anne Heilman
                          Helene Hirschfeld
                                                     Jenna Miles
                                                     Roger Miles
                                                                                  This ‘N That
Cal Bayer                 Dana Holinka               Dory Nemeth
Ethan Bennett             Hannah Hoslet              Lauren Niemeyer
                                                                                  Group Home Experience
Samantha Blieden          Benjamin Hutchinson        Heather Nixon                Sought
Hunter Bostwick           Foster Eric Hyde           Victoria Palmer              Guardians often want to know how to start a
Lance Bradford            Carl E. Jensen             Eric Parkes                  group home for their adult children with the
Daniel Buchsbaum          Sara Morgan Johns          Muriel Pattis                financial aid of local, state and federal funds.
Alan Carlton              Annie Johnson              Rachel Plavin                If you have successfully achieved this goal,
Kathryn Carter            Emily Johnson              Jack Poutasse                please share your wealth of knowledge with
Faith Chadderdon          Scott Johnson              Thorpe Richards              others. Contact Linda Creighton at
Melanie Chervanik         Michael Jorski             Kevin Robinson      or call (800)
Abigail Cooper            John G. Kaporis            Kaitlyn R. Sabedra           225-6872.
Amelia Cooper             Yukari Iwatani-Kane        Benjamin Shapiro
Paul W. Durdik            Samantha Kieny             Emmory R. Shapses            Annual Campaign Updates
Jeremy Elias              Frank M. Kliebert          Christopher Sherman          The STAMP OUT TS letter-writing
Gloria Fixell             Kolten Larson              Jarrod Stewart               campaign received a terrific start in May
Isabel Garcia             Sheldon Le Duc             Shae Sunahara                during TS Awareness Month. At press
Bailey Roland Giannini    Thomas Lindsey             Andrew Trundle               time, more than 300 volunteers were
Laurene Gobrogge          Hannah Linsin              Kurt Ullrich                 signed up to write letters to help raise
Meagan Golden             Haley Lynch                Michael Valdez               public awareness and funds for the TS
Colleen Goodrich          Wren Makowsky              Erin Wilson                  Alliance. For updates on the STAMP
Dick Haas                 Matthew Mastbaum           Lindsey Wilson               OUT TS campaign, please refer to the TS
Jade Hahn                 Harrison R. Miles                                       Alliance Web site at

 23     SUMMER 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 so that your voice is heard.

                                                                                         Non-Profit Org.
                                                                                          U.S. Postage
                                                                                        Capital Hts., MD
801 Roeder Road, Suite 750                                                              Permit No. 6041
Silver Spring, MD 20910

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