Dear Friends and Family by dfgh4bnmu

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									  Natalie’s Wish
                                                                                                          Star light, star             bright,
                                                                                                          First star I see            tonight
                                                                                                          I w i s h I m a y, I        wish I might
                                                                                                          Have the wish,              I wish tonight.

    F O R F R I E N D S O F N ATA L I E S TAC K A N D S U P P O RT E R S O F T H E C YS T I N O S I S R E S E A R C H F O U N DAT I O N # M A R C H 2 0 1 0



                                      I recently started my first yea
                                                                    nt
                                                                      r
                                                                                                        Dear Friends and Family
                                      of college at Loyola Marymou                                      This past year has been the most exciting year of
                                      University in Los Angeles. I am                                   research advancements and new research developments
                                       living away from home in the                                     in the treatment of cystinosis. It was only seven short
                                                                                                        years ago that we established the Cystinosis Research
                                       dorms on campus!                                                 Foundation (CRF) with the sole purpose of finding
                                                                                                        better treatments and a cure for cystinosis.
                                            both academically and socially. I have


I   t has been a challenging year so far,
    been studying hard and focusing on doin
     interested in majoring in psychology
LMU Bookworm Project – LMU students
schools to develop early literacy skills.
                                                 g well in college. At this point, I am
                                             or education. I just became part of the
                                             are paired with needy children in loca
                                           I am happy to be part of this program
                                                                                       l
                                                                                      and
                                                                                                        We are proud to report that we have made
                                                                                                        measureable progress towards our goals. We have
                                                                                                        pursued new and cutting-edge areas of research and
                                                                                                        we continue to seek out the best and the brightest
                                          in a meaningful way.
excited to give back to the community                                                                   researchers and scientists to study cystinosis. We
                                                                                     ortable.
                                           s, which was very painful and uncomf                         have reached out in new ways to the cystinosis
Last year I was diagnosed with vasculiti                                                 s
                                          until very recently, I have had blood draw                    community forging bonds of support and friendship
 The vasculitis attacked my kidneys, so                                             get
                                           eys are working well. I was happy to                         and strengthening our resolve to find a cure. With
 every two weeks to make sure my kidn
                                          15 months.                                                    the support from our friends and family, cystinosis
 off of prednisone after being on it for
                                                                                                        research has grown exponentially.
 Life in the dorm                                   A Note From Natalie                                 In 2009, the CRF raised more than $3 million
 Since I moved into the dorm, I have                                                   realize          thanks to an unbelievably generous matching gift
                                          ications. I now take 8 medications and
 taken full responsibility for all my med                                             made              of $1 million from an anonymous donor. Last year,
                                         them. When I was at home, my parents
 how difficult it is to remember to take                                                a               CRF issued grants totaling $3.3 million ensuring
                                               , it’s all up to me. I think I am doing
 sure I was taking the meds on time. Now                                    very sick.                  that the donations you make are immediately
                                            my meds, I know I will get
  fairly good job! If I don’t keep up with                                                              invested and working to find a cure for cystinosis.
                                                                                         best
                                               which has been really wonderful. The
  I’m still on the slow-release medication,                                             so I
                                                                                                        To date, the Foundation has committed and funded
                                               ally take less of the new medication,
   part is sleeping through the night. I actu                                   to manage
                                                                                                        over $10.8 million for cystinosis research. Currently,
                                                 medication has allowed me
   have fewer side effects. The slow-release                                            be
                                                                                                        the CRF has 41 ongoing research studies including
                                            mally. I cannot imagine what it would
   my life in college and to live more nor                                     certain that
                                                                                                        ten research fellows.
                                              y six hours like before. I am
   like if I had to take the medication ever                                          own.
                                           , if not impossible, to manage on my
   my life would be much more difficult                                                                      CRF-supported research has not only
   The slow-release medication                                                           l. I hope
                                                                                                             benefitted the cystinosis community,
                                            ication study will begin in March or Apri                         it has helped other disease groups.
   The last phase of the slow-release med                                              ital and
                                              It will require several days in the hosp
   and pray that I will be part of the study.                                      schedule.
                                              have to work around my college
   follow-up visits to the doctor, so I will                                              s soon        Our strategic approach to research includes funding
                                             new drug approved and hope it happen
   I know that we are waiting to get the                                             ion has            basic, translational and clinical research. Last year,
                                            easier life. The slow-release medicat
   so that other kids can experience an                                                                 we directed significant funds towards stem cell
                                              it will make other lives easier too.
    made my life easier and I am positive                                                               and gene therapy research. Biannual progress
                                                                                                        reports from our research teams have been very
                                  o supports the Cystinosis
     I am thankful to everyone wh                                                                       encouraging and the collaborative efforts between
                                  ve truly made my life better                                          teams promises to accelerate research and stimulate
     Research Foundation. You ha
                                     tinosis.                                                           new research ideas and theories.
     as we search for a cure for cys
                                                                                                        continued on page two
Dear Friends and Family continued from front page
We are only months away from learning whether the FDA has given its                registry. The information obtained from the patient registry will be used
final approval of the slow-release medication; we are confident that they          to facilitate and expedite clinical trials and bring us closer to a cure.
will. The final Phase 3 clinical trials will begin this spring and we hope
                                                                                   This past year, the CRF has witnessed tremendous growth as cystinosis
that Natalie will be able to volunteer. We are so proud to be able to state
                                                                                   families joined the CRF’s efforts to fund research and find a cure for
that the Cystinosis Research Foundation funded every study that led to
                                                                                   cystinosis. Some of their remarkable stories are included in this newsletter
the discovery of the slow-release medication by Dr. Ranjan Dohil and
                                                                                   and you can learn about others by visiting www.cystinosisresearch.org.
Dr. Jerry Schneider. This success is the single most important and
                                                                                   With support from their own families and friends, cystinosis families are
significant milestone the cystinosis community has had in decades. You
                                                                                   actively and enthusiastically raising funds to support cystinosis research
have demonstrated that a small group of people – who are dedicated,
                                                                                   through CRF. We have found strength in numbers and our joint effort gives
focused and committed to a cause – can change the future for children
                                                                                   us a renewed sense of community and purpose.
suffering from a devastating disease.
                                                                                    We are pleased to report that the second CRF International Cystinosis
We are excited to announce the formation of the CRF Stem Cell Consortium.
                                                                                    Research Symposium for researchers and scientists will be held on April 8
The CRF Stem Cell Consortium was recently established to bring the top stem
                                                                                    and 9, 2010 at the Arnold and Mabel Beckman Center near the UC Irvine
cell experts, cystinosis scientists and physicians together to collaborate on
                                                                                    campus. The symposium is partially and gratefully underwritten by Raptor
a stem cell therapy plan. Last year, Dr. Stephanie Cherqui and Dr. Daniel
                                                                                    Pharmaceuticals. More than 60 CRF-sponsored investigators and scientists
Salomon of The Scripps Research Institute presented us with a research
                                                                                    from around the world will attend the symposium. We anticipate that
plan to treat cystinosis using stem cell therapy. We are optimistic that within
                                                                                    collaborations will be formed and new research ideas will be generated
the next 3–4 years, there will be a clinical trial that will test for a cure
                                                                                                                          resulting in accelerated research
for cystinosis. The CRF Stem Cell
                                                You have demonstrated that a small group of people –                      and renewed research synergy.
Consortium will enable us to focus
on stem cell therapy as a treatment            who are dedicated, focused and committed to a cause –                      When CRF was established, one of
                                                                                                                          our goals was to improve the quality
for cystinosis and ensure that we                      can change the future for children suffering
have the expertise and commitment                                                                                         of life for children with cystinosis.
                                                                   from a devastating disease.                            Finding more effective treatments
from the scientific community to
move the plan forward. We are closer to a cure than ever before – we                was the key to that goal. In 2003, it was impossible to imagine daily life
would not be at this point without your commitment to our children.                 without the onerous six-hour medicine schedule and our quest for a
                                                                                    cure was a dream. Your prayers, financial support and commitment have
CRF-supported research has not only benefitted the cystinosis community,
                                                                                    brought us closer than ever to extraordinary changes in the daily lives
it has helped other disease groups. Cysteamine, the medicine our children
                                                                                    of children with cystinosis. Thank you for creating a legacy of hope for
take every six hours, was used in a recent clinical study as a possible
                                                                                    all families living with cystinosis.
therapeutic treatment for children with NASH. NASH, a progressive liver
disease, is steadily increasing in the U.S. adolescent population. The              We are moving closer every day to a cure for cystinosis. We realize that
Phase 2 clinical trial was successful, offering hope to children and                we have additional years of research ahead of us and more work needs to
families who suffer from NASH. In addition, cysteamine is being used                be done but, the time is now to continue our efforts! We are extremely
in clinical trials for Huntington’s disease and Parkinson’s disease.                fortunate to fund the most talented and brilliant scientists in the world
                                                                                    who have dedicated their lives to saving our children. We can clearly
While celebrating the tremendous research progress that has been made
                                                                                    see the road ahead of us – it is promising and hopeful.
and realizing that more clinical trials are on the horizon, the CRF, along
with other family foundations, will soon launch the first cystinosis patient        We are eternally grateful for your prayers, support and commitment.
                                                                                    We are especially thankful for the tireless efforts of Zoe Solsby, Christine
                                                                                    DuBois and Marylyn Milburn whose daily commitment and energy make
                                                                                          CRF so successful.
                                                                                             We hope you will join us for this year’s event on Friday,
                                                                                              April 30 at the Balboa Bay Club. The evening promises
                                                                                               to be inspirational with special guest vocalist John
                                                                                                Ondrasik of Five for Fighting, who will perform his
                                                                                                  heartwarming and emotional award-winning music.
                                                                                                      This will be an evening you will not want to miss.

                                                                                                            Nancy and Jeff Stack



                                                                                                                        www.cystinosisresearch.org
                                                       The Time Is Now!
                                                                          Ninth Annual Natalie’s Wish
                                                                                  Friday, April 30, 2010
                                                                   Balboa Bay Club, Newport Beach, CA
                                                              The young adults, children and infants
                                                 with cystinosis lead lives that few, if any,
                                                              of us can imagine let alone endure.

                                                   Their days and nights are filled with often unbearable pain, unrelenting discomfort
                                                   and the requirement of almost inconceivable daily drug dosing schedules – schedules
                                                   that are agonizing 24/7 life-long sentences that never stop and usually grow worse.
                                                   Despite this dreadful reality, cystinosis patients and their families
                                                   have never had more reason for hope.
                                                   Seven years ago, when the Cystinosis Research Foundation was established, there was
                                                   little more than hope-filled dreams of a better quality-of-life for those with cystinosis.
                                                   Today, researchers are about to initiate Phase 3 clinical trials for a delayed-release drug.
                                                   This new formulation may require less frequent dosing and fewer side affects. In simple
                                                   language, this new drug treatment means that cystinosis patients and their families
      John Ondrasik                                have – for the first time – reasonable hope of an uninterrupted night’s sleep. A small
                                                   accomplishment for most of us, but it is something unheard of for cystinosis patients
                                                   and their families until now.
We hope you will join us on Friday, April 30       Even more remarkably, dedicated and talented cystinosis doctors and
     for a special evening with pop singer-        researchers believe that a cure is now in sight…possibly within 3–4 years.
 songwriter John Ondrasik, known as Five           Clearly, there is much to be done and many hurdles to overcome, but with your support,
                                                   the Cystinosis Research Foundation is on the verge of finding a cure for cystinosis.
    for Fighting. John is recognized for his       We need your help more than ever to accomplish what we have long dreamed about.
   Grammy-nominated hits Superman and
                                                   Please join us at the ninth annual Natalie’s Wish event on April 30, 2010.
       100 Years and most recently Chances,
which was featured in the movie Blind Side.        It is time to finish
                www.fiveforfighting.com/about/       what we have so boldly started.
                                                                  It is time to find the cure.
   For tickets or sponsorship information, call Zoe Solsby at 949.223.7610 or visit www.cystinosisresearch.org
S E C O N D I N T E R N AT I O N A L
                                                                                                      TOGETHER WE ARE
                                                                                                   MAKING A DIFFERENCE
Cystinosis Research Symposium                                                                                 BOMA GOLF TOURNAMENT
                                                                                                The 2009 BOMA (Building Owners and
Thursday, April 8, and Friday, April 9, 2010                                               Association of Orange County) Golf
                                                                                                                                         Managers
                                                                                                                               Tournament raised
                                                                                           more than $5,700 for cystinosis resea
The Cystinosis Research Foundation is sponsoring its                                                                             rch. Since 2004,
                                                                                                BOMA Orange County has contribute
Second International Cystinosis Research Symposium                                                                                    d more than
                                                                                                 $73,459 to the Cystinosis Research
                                                                                                                                      Foundation.
for researchers and scientists on Thursday, April 8                                              BOMA’s contributions, along with those
                                                                                                                                          of other
and Friday, April 9, 2010 at the Beckman Center of                                                caring supporters, are giving hope
                                                                                                                                       to children
                                                                                                 and young adults, and their families
the National Academies of Sciences and Engineering                                                                                     who suffer
                                                                                                              from cystinosis. Special thanks to:
near the University of California, Irvine campus.
                                                                                                        Robin Jochims, Executive Director,
                                                                                                                                           BOMA
Investigators from the United States, Canada, France,
Belgium, The Netherlands, Italy, Ireland and Germany                                                                     TOURNAMENT CO-CHAIRS
will attend and many will present their current                                                     Jeff Koscher, Advanced Restoration Speci
                                                                                                                                            alists Inc.
research on cystinosis. All of the research that will                                                               Jon Schneider, Specialty Apparel
be presented has received funding support from CRF.
The purpose of the Symposium is to learn about
                                                                                                                                  GOLF COMMITTEE
                                                                                     Kristen Attardo, American Technologie
                                                                                                                          s Inc./American Restoration
ongoing research and foster collaborations among                                                Larry Balicki, Montross Weatherproofing
                                                                                                                                        Systems Inc.
the researchers in order to facilitate the progress                                                          Dorothy J. Bisaha, SERVPRO of Tustin
in understanding and treating cystinosis.                                                                                Judy Bowers, Cox Business
                                                                                                                        Laura Dambrosio, HSG Inc.
SYMPOSIUM CHAIRMAN                                                                                Nichole Fletcher-Kemper, Parking Conc
                                                                                                                                            epts Inc.
                                                                                           Ruth Garcia, Suddath Relocation Systems
Jerry Schneider, MD                                                                                                                of California Inc.
Research Professor of Pediatrics                                                                            Steve Hall, Able Engineering Services
Dean for Academic Affairs Emeritus                                                                            Kim Jensen, AAA Property Services
School of Medicine, University of California, San Diego                                             Rhonda Lauer, RPA, DJM Capital Partn
                                                                                                                                            ers Inc.
                                                                                                          Garrett Macklin, Maguire Properties LP
                                                                                                  Marius Opre, South Shore Building Servic
SYMPOSIUM CO-CHAIRS                                                                                                                          es Inc.
                                                                                                             Mike Raring, AAA Property Services
Ranjan Dohil, MD                                                                                      Katy Samaha, Universal Services of Amer
Professor of Pediatrics                                                                                                                          ica
                                                                                                       Russ Scarce, LEED AP, Pacific Building
Division Gastroenterology and Hepatology                                                                                                     Care
                                                                                                                    Rod Sibley, SERVPRO of Irvine
University of California, San Diego
                                                                                                                           Brett Wells, Vista Paint
Corinne Antignac, MD, PhD
Department of Genetics                                                                                    CYST INOS IS RESE ARCH FOUN DATI ON
Director of Inserm Research Unit U574
Hospital Necker-Enfants Malades, Paris, France
Elena Levtchenko, MD, PhD
                                                                                                         NATALIE’S WISH
Associate Professor
University Hospital Leuven
Leuven, Belgium                                            FOR CRF FAMILIES
KEYNOTE SPEAKERS                                          “A Day of Hope” on Saturday, May 1, 2010
Jerry Schneider, MD
Elena Levtchenko, MD, PhD                                 Join cystinosis families from across the U.S. following our annual Natalie’s
Corinne Antignac, MD, PhD                                 Wish event on Friday, April 30. CRF will host “A Day of Hope” on Saturday,
                                                          May 1 to learn more about our research progress and celebrate the hope
SESSION MODERATORS                                        we have for the future. The event will feature several CRF researchers who
Julie Ingelfinger, MD                                     will share information about their research projects. We will begin with
William Rizzo, MD                                         breakfast, followed by presentations, lunch and research discussions.
Daniel Salomon, MD
                                                          The day will end with an informal gathering of families and their friends
Adam Jonas, MD
                                                          for a dinner celebration. Mark your calendars and join us on May 1.
www.cystinosisresearch.org                                Contact Nancy Stack if you would like to attend: info@cystinosisresearch.org
Raptor’s DR Cysteamine, an investigational, delayed-release (DR) oral formulation of cysteamine
bitartrate, is being studied for the potential treatment of nephropathic cystinosis. Raptor’s DR
formulation may require less frequent dosing and reduce gastrointestinal side effects.
[www.raptorpharma.com/dr_cysteamine_cystinosis.html]



Raptor Pharmaceutical Advances
                                                                                                                              Ted Daley
Delayed-Release Cysteamine in Clinical Trials                                                                      President, Raptor Pharmaceuticals


Nine patients completed the Phase 2b study conducted                           There will be blood draws, overnight fasts and other evaluations.
at UCSD in 2009. Key findings released in 2009 included:                       Travel and accommodations for participating in the study will be
                                                                               provided at no cost to the patient. Daily living expenses for a family
• DR Cysteamine demonstrated improved tolerability and the
    potential to reduce total daily dosage and administration                  member or guardian accompanying a minor will also be covered.
    frequency compared to immediate-release cysteamine bitartrate.             Eligible patients must be on a stable therapeutic dose of Cystagon®,
• Twice-daily DR Cysteamine may achieve the same                               be able to swallow Cystagon® capsules whole, not have received
    pharmacodynamic result while using a daily dose 30 percent                 a kidney transplant and take all medications orally, not through
    lower than immediate-release cysteamine bitartrate capsules                a gastric tube. Both clinicaltrials.gov and the foundation websites
    administered four times daily.                                             will be updated as new study sites come on line.

• No adverse events recorded during the clinical trial were                    An extension study to determine the safety of long-term administration
    determined by the principal investigator to be possibly or                 of Cysteamine Bitartrate Delayed-Release Capsules is planned. Patients
    probably related to DR Cysteamine. Nine adverse events                     who complete this Phase 3 study will be offered the opportunity to be
    recorded in the clinical trial were determined to be possibly              treated with Cysteamine Bitartrate Delayed-Release Capsules until they
    or probably related to immediate-release cysteamine bitartrate.            are approved by the FDA or until Raptor Therapeutics withdraws its
                                                                               application with the FDA (for whatever reason).
Additionally, Patrice Rioux, MD, PhD, Raptor’s Chief Medical Director,
recently presented at the Annual Lysosomal Disease Network WORLD               Please contact your doctor or check out www.clinicaltrials.gov
Symposium 2010 findings from this Phase 2b study. This data suggest            [www.clinicaltrials.gov/ct2/results?term=raptor+cystinosis] for
pre-dose plasma cysteamine concentration is sufficiently predictive            further information. Raptor can be reached at 1.888.270.3828
that it could be used to determine effective cysteamine bitartrate             or at clinicaltrials@raptorpharma.com
dosing necessary for the management of cystinosis patients. This
is important because the plasma cysteamine concentration test is
easier and more practical to run in most clinical settings than the
WBC cystine assay.                                                               C R F LA U N C H ES C O M M
Raptor extends its thanks to all who have participated in the studies
                                                                                                             U N IT Y FO R U M
                                                                                 CRF recently re
                                                                                               designed its websi
that have brought us to this point and appreciates the effort made                                                   te and we are
                                                                               proud to announce
by both patients and families for all study participation.                                           a new feature: the
                                                                               Community Forum                            Cystinosis
                                                                                                  . We encourage yo
Many people, both at Raptor and within the cystinosis community,               get involved with                       u to join and
                                                                                                  our discussion grou
are working hard to get the Phase 3 study up and running. Raptor              a wonderful opportu                        p. It provides
is in active discussions with the both the FDA and the various                                       nity to ask questio
                                                                              your story with othe                        ns and share
authorities at the intended trial sites to finalize the protocol and                                r families living w
                                                                                                                         ith cystinosis.
begin enrollment. Patient enrollment is expected to begin in spring.          This forum offers a
                                                                                                   new avenue for sh
This will be a multi-center study with four sites in the U.S. and            to everyday challe                       aring solutions
                                                                                                 nges for families liv
five sites in Europe. The current Phase 3 protocol calls for:                cystinosis, while fo                       ing with
                                                                                                   stering new friends
•   One screening visit                                                      connections with                            hips and
                                                                                                the Cystinosis Com
•   Seven consecutive days of clinical visits                                worldwide. Please                        munity
                                                                                                  join us today!
•   Approximately three weeks of home use of the new drug
                                                                                     www.cystinosisre
•   Three additional consecutive days of clinical visits                                             searc                    h.org

                                                                         5
                                                                    Scientific Review Board
        CRF SRB
                                                                                                           is composed of leading cystinosis scientists and experts
                                                                    from around the world. Members are actively involved in the grant review process, evaluating
                                                                    and analyzing all research proposals submitted, and advising the Cystinosis Research
                                                                    Foundation on the scientific merit of each proposal. We are indebted to Scientific Review
                                                                    Board members for their leadership, guidance and commitment to helping our children.



Scientific Review Board
                                                 WE WELCOME OUR NEWEST SRB MEMBERS
CHAIRPERSON
Jerry A. Schneider, MD
Research Professor of Pediatrics
                                                 Stephanie Cherqui, PhD
Dean for Academic Affairs Emeritus               Dr. Cherqui pursued the field of genetics because she was interested in human genetic
 University of California, San Diego             diseases and their potential treatment for stem cell and gene therapy. She received
 San Diego, California                           her master’s degree in Molecular Biology and Genetics in 1998 from the University in
 Corinne Antignac, MD, PhD                       Paris. She then joined Dr. Corinne Antignac’s group (Inserm U983, Paris, France) for
 Department of Genetics                          her PhD and she began working on cystinosis research projects, and participated in
                                     4
 Director of Inserm Research Unit U57             the identification of the CTNS gene in 1998. Her team demonstrated that cystinosin is
 Hospital Necker-Enfants Malades                  a lysosomal membrane protein that represents a novel H+-driven transporter responsible for cystine export from
  Paris, France                                    lysosomes. She also cloned and characterized the murine homologue of CTNS, Ctns and generated a murine model
  Stephanie Cherqui, PhD                           for cystinosis, Ctns-/- mice that accumulates cystine in all the tissues and develops defects similar to those in human
  Assistant Professor                               patients. Dr. Cherqui obtained her PhD in 2002, with a thesis titled “Molecular studies of cystinosis: identification
  The Scripps Research Institute                    of the gene and characterization of the protein.”
  La Jolla, California
                                                   She joined Dr. Daniel Salomon’s group at The Scripps Research Institute in San Diego, California for her post-doctoral
   Francesco Emma, MD
                                                   training in 2002. She learned about stem cells and gene therapy using lentiviral vectors applied on vascular diseases.
   Head of Pediatric Nephrology
                                                   In 2006, she started the project “Stem cells and gene therapy for cystinosis” at The Scripps Research Institute, where
   Director of Hephrology Labratory
   Bambino Gesù Children's Hospital                 she became an assistant professor in 2009. This study has shown that transplantation of bone marrow stem cells
   Rome, Italy                                      or hematopoietic stem cells expressing a functional Ctns gene results in the abundant tissue engraftment of
                                                    transplanted cells and decrease of cystine content (between 57 and 94 percent decrease). This treatment also
    Julie R. Ingelfinger, MD
    Deputy Editor of the New England
                                                     improves the eye, bone and kidney diseases of cystinosis. Dr. Cherqui is currently working on the ex vivo genetic
    Journal of Medicine                              modification of Ctns-/- hematopoietic stem cells to express a functional CTNS gene and build foundations for a future
     Professor of Pediatrics                          clinical trial for stem cell therapy to treat cystinosis.
     Harvard Medical School
                                                    Dr. Cherqui’s work is outlined in 12 original publications on cystinosis. She is an active member of the American
     Boston, Massachusetts
                                                    Society of Gene and Cell Therapy.
     Adam J. Jonas, MD
     Chairman, Department of Pediatrics
     Harbor-UCLA Medical Center                      Francesco Emma, MD
     Professor Pediatrics                            Dr. Emma received his medical degree and specialized in pediatrics at the Catholic
      Geffen School of Medicine at UCLA
                                                     University of Louvain, Brussels, Belgium. He then moved to Boston, Massachusetts
      Los Angeles, California
                                                     where he trained at Children’s Hospital, Harvard Medical School. He was a fellow
      Elena Levtchenko, MD, PhD                      in general pediatrics from 1990 to 1992 and a fellow in nephrology from 1992 to
      Associate Professor                            1997. During this period he trained in molecular and cell biology in the nephrology
      University Hospital Leuven
                                                      laboratory, focusing primarily on cell fluid and electrolyte transport mechanisms.
      Leuven, Belgium
                                                       In 1998, Dr. Emma moved to the Bambino Gesù Children’s Hospital in Rome, Italy, where he has set up the
       William B. Rizzo, MD
       Department of Pediatrics                        nephrology laboratory and was appointed head of pediatric nephrology in 2005. He is a contract Professor
       Chief, Inherited Metabolic Diseases             of Pediatrics and Nephrology at the Tor Vergata University and La Sapienza University in Rome. He has been
                                           ter
       University of Nebraska Medical Cen               a council member for the European Society of Pediatric Nephrology and is currently the President of the
       Omaha, Nebraska                                  Italian Society of Pediatric Nephrology.

                                                       Dr. Emma has authored more than 60 articles in peer-reviewed journals. His research has focused on several
              aspects of pediatric nephrology, in particular on tubular diseases and cystinosis. Specifically, Dr. Emma’s laboratory research on cystinosis has focused
              on studying cell mechanisms that regulate the expression of the CTNS gene and the expression of different isoforms of the cystinosin protein. In
              conjunction with the laboratory of Dr. Goodyer in Montreal, Canada and with the support of the Cystinosis Research Foundation, Dr. Emma has begun
              studying the therapeutic potentials of stem cells for the treatment of cystinosis.

                                                                                        6
Katie was 4 ½ years old when she was diagnosed with cystinosis. She was born in October, 1990,
weighing 8 lbs. 6 oz., and was a large child until she was about 3 years old. The only unusual
symptoms we noticed were Katie’s insatiable thirst and very pale complexion. Her pediatrician
concluded she was anemic and prescribed
iron drops. By her fourth birthday Katie
was quite thin and had a very poor appetite                                       Katie (right) with
except for salty foods and potato chips.                                          her friend Anna




Katie                                      By Ruth Ann
                                           and Tony Ahnen,
                                           Katie’s Parents



  Ahnen
S        hortly after her fourth birthday Katie
         became very ill and we took her to
         the emergency room; they said she
was dehydrated and gave her a couple bags
of IV fluid and sent us home. She slowly
                                                   Katie spent a few more days in the hospital
                                                   and we were sent home with a myriad of
                                                   medications to be given on an insane schedule.
                                                   Having to give her both liquid and pill
                                                                                                    with a stomach flu we would usually end
                                                                                                    up in the hospital where she received
                                                                                                    much-needed potassium via IV. One or
                                                                                                    more hospitalizations a year was common.
                                                                                                    Within a couple of years Katie also developed
                                                   medications (crushed up and mixed with
recovered and seemed to be improving over                                                           ulcerative colitis and was hospitalized for
                                                   juice) via syringes was difficult on Katie
the next several months. Her symptoms did                                                           10 days at one point due to a flare up of
                                                   and the rest of the family. Initially most of
not completely disappear and she got ill                                                            this condition.
                                                   the medications went down and then came
once again. We took her to the pediatrician
                                                   right back up. We really struggled to keep       Katie has always maintained a positive
who ran some blood tests and admitted her
                                                   the meds down, and as all parents know           attitude and has done a great job taking
to the intensive care unit. Her potassium
                                                   it’s difficult to reason with a young child.     her meds after the early years. Many years
level was dangerously low and her doctor
                                                   This was an extremely stressful time for our     have passed since her diagnosis and in
                                                                                                    March 2007, at 17 years old, Katie received
                                                                                                    a kidney from her dad. The physical and
       Katie has an incredible zest for life and it shows in her positive attitude                  emotional change following the surgery
         and contagious optimism. The number of medications she takes has                           has been like having a new member of the
         decreased dramatically and she looks and feels like a new person.                          family. Katie has an incredible zest for life
                                                                                                    and it shows in her positive attitude and
                                                                                                    contagious optimism. The number of
was concerned she might suffer a heart             entire family as we knew the consequences        medications she takes has decreased
attack. All the doctor could tell us was that      of not taking the medications. We told           dramatically and she looks and feels
her chemistry was way off and it appeared          the doctors that our quality-of-life was         like a new person.
she had gone into renal failure.                   deteriorating and that we could not continue
                                                                                                    Cystinosis creates many challenges for
                                                   to give her medications in the middle of
Katie spent a week in the first hospital, and                                                       an entire family, but there are some
                                                   the night since she just vomited them and
after they could not find a reason for her                                                          good things that can come from it too.
                                                   killed any chance of a good night’s sleep
illness they transferred her to a children’s                                                        Through the years of dealing with the
                                                   for the whole family.
hospital. After a few days and seemingly                                                            myriad problems caused by the disease,
endless tests she was diagnosed with               We finally fell into the common routine          we have grown together as a family and
cystinosis due to the crystals in her corneas.     of visits to doctors, specialists and our        we know how blessed we are to have
We immediately began researching the               pediatrician. The medications changed            such a wonderful daughter. Katie will
disease in the hospital library and were           frequently and it was almost a full-time         graduate from high school in the spring
horrified to learn that many children with         job to keep them on hand and ensure              and attend college next fall. She plans
cystinosis did not live into early adulthood.      compliance. Any time Katie came down             to become a nurse.

                                                                          7
                                                                                       By Maria Pekli, Erik’s Mom



                                                            Erik s story                        ’


Erik was born on November 27, 2005 and apart from being three weeks early he looked like a
perfectly healthy little boy. He gained weight quickly and grew normally until nine months of age.
The only worrisome sign at the time was that he had never taken to solid foods. We thought he
was just lazy and preferred sucking from the bottle. This went on until he refused to eat anything
at all and he began to drink so much water that we could barely track the number of cups.




                     A
                                fter a blood test with the local paediatrician       sometimes take him to judo training and that he has a
                                Erik was admitted to the Royal Children              great deal of fun rolling around on the mat. Even the
                                Hospital in Melbourne (Australia) where              occasional vomiting episodes can’t take his fun away.
                     doctors began to investigate Erik’s “failure to thrive.”
                                                                                     The Beijing Olympics was our last competition. It was
                     Our nephrologist had seen children with cystinosis              an amazing experience that meant more to us than
                     before so we were lucky to get a diagnosis within two           previous games because we were doing it for Erik this
                     weeks. It came on May 25, 2007 – just two days before           time and not just for ourselves.
                     Erik turned 18 months old. It is a date that I will never
                                                                                     Daniel is a national coach for young athletes and I am
                     forget because it changed our lives forever.
                                                                                     the state coach in Victoria (in Australia), and we run a
                     Erik had earlier symptoms but we just did not know              judo club together in Melbourne. It has been extremely
                     to look for them. He was small for his age but it never         challenging to continue to do what we love while being
                     occurred to us that he was so sick. Looking back – as           ready in case something happens to Erik.
                     you do when you have a sick child in search of a way
                                                                                     Daniel’s parents look after Erik every Wednesday, which
                     you may have changed this awful reality – it is hard
                                                                                     means we get at least one
                     not to think, “I wish we had taken him to the hospital
                                                                                     full night’s sleep a week.
                     earlier.” But we had no reason to do so because Erik
                                                                                     At 16, Daniel’s mum Wendy
                     was a very happy boy prior to his diagnosis.
                                                                                     was in a car accident that
                     Before diagnosis, Erik’s father, Daniel and I were both         left her a paraplegic. She
                     working to earn a place on Australia’s team for the             is an amazing woman who
                     Beijing Olympic Games. The months following the                 went on to have three
                     diagnosis were really difficult as we struggled to              children from a wheelchair.
                     understand what was happening and to get Erik stabilized.       Wendy has a super pubic
                                                                                     catheter so she and Erik
                     After months of debate we decided to proceed with our
                                                                                     share a special bond of taking care of their “peggies.”
                     initial plan and do our best to qualify for the Beijing
                                                                                     She also provides a sounding ground for us and a
                     Games. One very important factor in this decision was
                                                                                     living example of how you can still have a great life
                     our desire to show Erik that one should not abandon
                                                                                     even when you face adversity.
                     their dreams regardless of what life throws at you. We
                     also thought it was a fantastic way to raise awareness          Erik is doing well medically. His levels are stable and
                     of cystinosis. Of course, Erik doesn’t understand it yet,       he has good cystine levels too. But he doesn’t eat
                     but we hope that when he does, he is inspired to be             anything and still vomits most mornings. We are very
                                                     brave and do the same           strict with his medicine regime; for us, compliance is
                                                     in his life.                    the most important factor in taking care of him. We
                                                                                     would like to preserve his kidney function for as long
                                                    Erik doesn’t know that
                                                                                     as possible. Our next big challenge is to wean Erik off
                                                    his father competed in
                                                                                     his feeding tube. He attends kindergarten three days a
                                                    three Olympic Games or
                                                                                     week and will start pre-school next year. We would like
                                                    that his mum competed
                                                                                     him to be able to progress in school with his friends.
                                                    in five and that she has
                                                    a bronze medal from              We are extremely grateful for what CRF is doing
                                                    the Sydney Games, and            and can’t say thank you enough for guiding us
                                                    narrowly missed out              on this unexpected journey. We are very hopeful
                                                    on another in Beijing.           for a better life and maybe a cure for Erik and
                                                    He just knows that his           for all other children and adults living with
                                                    mummy and daddy                  cystinosis. Thank you so much.

                                                                                 8
                     This is the second year we have been able to share our
                     story in the CRF newsletter, and we are so grateful for
                     all the CRF supporters. You truly sustain us and keep us
                     going with hopes of someday finding a cure.



By Tricia Sturgis,
Henry’s Mom
                     Henry Sturgis
                            enry is now 3 ½ and doing well. He started          This year we raised $75,000 with help from many

                     H      preschool last fall and enjoys his teachers and
                            friends. Henry’s blood levels have been in the
                     normal range for the last few doctor’s visits so we
                                                                                amazing supporters, including more than 150 skiers
                                                                                and snowboarders. In September we will host our
                                                                                second 24 Hour Bike Ride.
                     received the good news that we only have to travel to      In 2009, we also had several friends do fundraising
                     Seattle for cystinosis checkups once a year, instead of    on our behalf. Our friend Katlynn Souers, 11 years old,
                     every six months. Henry still has physical, occupational   started Henry’s Helpers. She offers services like babysitting
                     and speech therapy once a week, to help with his           to neighbors and friends to raise money for Henry. Her
                     development. A couple of months ago we started             fundraising efforts will continue in 2010. Also, Sarah
                     Henry on growth hormone injections – it is not easy        Neupert participated in the Iron Man Triathlon in Coeur
                     but we are doing it. He receives them nightly, six days    d’Alene, Idaho, and raised money through the Janus
                     a week, resting on Sunday. The doctors anticipate doing    Charity Challenge. Our friends Todd and Annika Korn got
                     this for two years.                                        married in August and asked their guests to donate to
                     2009 has been a very busy year for our foundation,         Henry’s foundation in lieu of gifts. We are so thankful
                     24 Hours for Hank. We continue to be amazed by the         for our wonderful friends and family.
                     support we have received from our community, our friends   Words cannot express our gratitude to CRF and
                     and family and even strangers. It is just unbelievable     all the hard work and sacrifice that goes into
                     and so uplifting! Our ski event, 24 Hours of Schweitzer,   furthering research in hopes of finding a cure
                     is held in January and that keeps us all busy              for our sweet Henry and all the other children
                     before and after the event.                                who suffer from cystinosis.
                  January 15th marked the one-year anniversary
                  of Gabbie’s diagnosis with cystinosis. My husband
                  and I joke that it has been the longest year of
                  our lives. We laugh, but we know that it’s true.




Gabbie Strauss
                                                                                 By Jody Strauss, Gabrielle’s Mom




  W  elcoming a new baby girl, Chloe, last May coupled with a demanding around-the-clock medicine schedule
     meant we didn’t get a lot of sleep. Our neighbours joke that there is always a light on at the Strauss house.

   Thankfully, we put many of those waking hours to good use. With the help of my sister-in-law, Tracey Strauss,
   and many dedicated friends and family, we officially started the first nonprofit in Canada for cystinosis research
   and awareness. A few bake sales, BBQ’s, a dance, a fashion show and a spaghetti dinner later, we have raised
   more than $100,000.

   Since starting the Cystinosis Awareness & Research Effort (CARE), my husband and I have realized just how
   demanding it is to start and run a nonprofit. It makes us appreciate just how hard the Stack family has worked
   to help change the lives of children with cystinosis. We want to help continue their effort by raising as much
   money as possible. Other Canadian families who have children with cystinosis have stepped forward and have
   offered to help fundraise as well. We are grateful for all the support we have received.

   Gabbie has a great appetite and is staying on the growth chart. She doesn’t let cystinosis stop her from having fun,
   getting into things and enjoying the gift of life with her younger sister Chloe. She takes all her medications and
   supplements orally without a fuss except the odd time when we have to chase her, but it usually ends with a giggle.

   We look forward to the day very soon when a cure for cystinosis is found. What a celebration
   that will be! Until then, we will pray, laugh, love and cherish every day.




                                                                                                Chloe (second from left)
                                                                                                and her big sister Gabbie
                                                                                                (right) with their great
                                                                                                grandfather “Poppy”
                                                                                                Oscar Schriver and great
                                                                                                grandmother “Nanny”
                                                                                                Phyllis Schriver and
                                                                                                mom Jody




                                          10
                   Jeff and Alicia’s Story
                                                      by Michelle Wachter, Jeffrey, Alicia and J.C.’s Mom



         My husband, Jim, and I have three beautiful children: Jeffrey, 14 years old, Alicia, 10, and J.C., 5.
          Unfortunately, Jeffrey and Alicia have cystinosis. I used to think our story was rare and unique,
          but as I have started to reach out to others affected by this disease, I realize that I am not alone.



J
        eff was born September 24, 1995, a healthy 8 lbs 10 oz, and his                 wrong. I’m sending you for blood work, some x-rays, and I’m referring you
        first year of life was pretty uneventful. He seemed to be doing well,           to a specialist.” Shock came over me, but I was calm. Finally some answers.
        except the six times a night he woke up to drink a bottle. Year two
                                                                                        We found a pediatric oncologist, and I was prepared to learn what kind
was much of the same. I wouldn’t dare take his precious bottle, even though
I knew I was supposed to. Then he stopped gaining weight or growing                     of horrible cancer my son had. Instead, he said that the tests had come
taller. Jeff’s doctor said that it was because I hadn’t taken his bottle and            back with some kind of abnormality, but it wasn’t cancer. He did not know
he didn’t get enough calories from food. That seemed logical, so I slowly               what Jeff had, but he would pass his file around to see if his colleagues
began to take his bottle – his lifeline, it seemed. I felt miserable. I still           had any idea. Instead of being happy that my son didn’t have cancer, I
offered him water every time he woke up during the night. Sometimes he                  was even more terrified that he had a disease that nobody had heard of.
would drink until he threw up. I began to worry, but I was the only one.                How can you treat a disease if you don’t know what it is?
Year three began much the same as                                                                                                         After a few days, a pediatric
year two – minus the bottle. Jeffrey was          (Left – right) Alicia, Jeff and J. C. with friends                                      nephrologist called and
the same size he was at 18 months.                                                                                                        said she thought he had
I began the torturous game of asking                                                                                                      nephropathic cystinosis.
every mom at the playground how old                                                                                                       I was relieved to have an
their child was so I could compare                                                                                                        answer, and with my limited
Jeffrey. I thought I had an answer: he                                                                                                    knowledge of medical
had to be diabetic. I asked the doctor                                                                                                    terminology, I decided that
to test him; I was told that he was                                                                                                       Jeff must have cysts on his
hypoglycemic and that I must not                                                                                                          kidneys. If we removed
have fed him enough at breakfast.                                                                                                         them, he’d be fine! I’m
They said to feed him anything that                                                                                                       thankful that I didn’t have
would give him extra calories – he                                                                                                        the internet at home at that
would be fine. I was Jeff’s only                                                                                                          time. We answered the
problem – a young, incapable                                                                                                              nephrologist’s questions,
mother. Months later, when Jeff went                                                                                                      and I waited for the final
back to the doctor for some immunizations, his hemoglobin level was 8,                  diagnosis, which I thought I already knew. I won’t bore you with all the
dangerously low. I was given a list of foods that were high in iron, and began          details of cystinosis. The reality sank in. I was numb. Of course, news
the maddening task of trying to get iron in every bite of his food. When I              that my new baby had a 25 percent chance of having cystinosis brought
asked the doctor about Jeff’s sleeping habits, I was told he was just spoiled.          more shock. At home my life became a constant fight with my son. For
He wouldn’t get up for drinks if I just ignored him. That was the one order             3 ½ years he led a “normal” life, and he didn’t want anything to do with
I was never able to follow – I could never listen to him cry like that.                 the terrible tasting meds and doctor appointments. I became his enemy,
                                                                                        which made me cry even more.
I began to think I was crazy. My family and friends were baffled by my
reaction to a doctor telling me my son was fine. Deep down, I knew                      On November 5, 1999, my daughter Alicia was born. The beautiful day
something was wrong. Could it really be my fault? Why couldn’t I get                    was less joyful, with everyone looking for signs of cystinosis. I had to
it right? I went into a state of denial, pushing out all negative thoughts.             explain what cystinosis was to every doctor and nurse who came to see
I told myself that it could be worse.                                                   her. I was very bitter. Initially, Alicia showed very few signs of cystinosis.
                                                                                        She slept all night, she got teeth at 6 months old, and she was growing
When Jeffrey was 3 ½ years old, I found out that I was pregnant again –
                                                                                        and healthy. The doctors saw no reason to test her for it. I was happy but
not my plan, but God’s. I was happy and sad and frantic. All the crazy
                                                                                        cautious, and I continued to scrutinize everything she did and compared
emotions that are amplified during pregnancy crept in to my head, and I
                                                                                        her to other babies her age.
wanted to find out what was happening to my son. I saw a new pediatrician,
and nervously waited as he examined Jeffrey. I wanted him to say he was                 After Alicia’s second birthday, I began to notice symptoms of cystinosis.
fine, but I also wanted him to say there was something wrong to prove                   She was always thirsty, and enjoyed eating pickles, beef jerky and
that I wasn’t crazy. The doctor said calmly, “There is something definitely             anything salty more than sweets. Her growth began to slow. I insisted that

                                                                                  11                                                        Continued on next page
      she be tested for cystinosis, but the doctors were hesitant. They just drew        the early years of Jeff’s diagnosis, I had divorced and re-married.
      blood and tested her electrolytes and kidney function, which came back             My youngest son J.C. does not have cystinosis and my new husband
      almost normal. The doctors were happy, but I was not. I decided that I             has adopted Jeffrey and Alicia.
      needed to be strong and stand up for what I thought was right. The doctors
                                                                                         When Alicia’s kidneys began to fail, I was tested to determine if I could
      have the advantage of education, but a mother’s intuition is a powerful
                                                                                         be a donor. Then we found out that there was a local 14-year-old boy
      force. When they finally ran the decisive test, they were all shocked that
                                                                                         who was a great match for Alicia. I decided to take the offer from the
      she did indeed have cystinosis. Once again, I was devastated.
                                                                                         kind strangers, and Alicia’s transplant was performed on December 28,
      To summarize the next few years, Jeffrey received a kidney from my                 2008. I am thankful every day for the family who was able to donate
      younger sister in December, 2003 when he was eight years old. During               their loved one’s organ and help give Alicia her life back.

              I have built a wonderful relationship with my children’ s current doctors. I feel that I have found the perfect
           group of people who care about my kids almost as much as I do. I have also learned so much from this experience.
          I have learned to stand up for what I believe is right, to be happy, and that it is okay to reach out to the cystinosis
            community for support. I learned that I am not alone. I learned to be thankful for every moment of every day.
                 I have learned so much, but the most important thing that I have learned is that there is always HOPE.




                              New Brothers and Sisters
                                                                                                                             Ryder James DeDio
           Chloe Strauss
                                                                                                                                Born July 29, 2009
          Born May 27, 2009                                                                                                      Weight 8 lbs. 3oz.
          Weight 6 lbs. 14 oz.                                                                                                From the day Ryder DeDio was born,
                                                  blood                                                                        Bailey became the best big brother!
 Immediately following her birth, Chloe’s cord
      was collected and sent for gene tic testing to                                                                                 Ryder just stares at Bailey
                                                later we
determine if she had cystinosis. Two months                               Grace and Joel Strickland                                 and wants to play with him.
received a phone call from the genetics    department at                                                                     You can see the connection they share,
                                                ming us                                                                      and even though they are 12 years apart
  Sick Kids Hospital in Toronto, Ontario infor
    that Chloe did not have cystinosis. We were very                                                                              they have a special bond. Bailey
                                                                        Grace Strickland
       relieved and thankful to God for the news.                                                                               tells me, “Mom, I love my brother!
                                               and likes                                                                             I wish you had him sooner.
Gabbie has embraced her new big sister role                              Born June 17, 2009
                                         y baby sister.                                                                                 He is my best friend!”
 to help mommy take care of her happ
   Chloe and Gabbie entertain each other and
                                                 there                   Weight 8 lbs. 5 oz.
  are always lots of giggles heard arou nd the house.
                                                                       Grace Strickland is now 9 months old
                                                 and a
   Chloe is an amazing blessing to our family                            and already crawling, pulling up,
  joyful and playful friend to her older sister Gabbie.                                                           –
                                                                    and eating like a champ. She is a blessing
                                                                      like her name suggests – in ever    y sense
                                                                         of the word. Her big brother, Joel,
                                                                            loves her more than anything,
                                                                           as does their big brother Jonah.
                                                                              Both boys constantly dote
                                                                            on her and try to cheer her up
                                                                               or assist with little chores
                                                                                   in tending to her.

                                                                                                                                            Bailey and Ryder
                 Chloe and Gabbie Strauss
                                                                                    12
       Tina’s Story
                                                                                            by Denice Flerchinger, Tina’s Mom




This year has been an emotional one. There are so many

                                                              S
                                                                     tarting kindergarten came with many challenges. I worried
things that go on in one day to keep Tina in good health.            about Tina’s need for an endless supply of water, since she
                                                                     drinks two gallons a day. I worried about her making it to
                                                              the bathroom so frequently throughout the morning. I worried
                                                              about snack time; she now brings her own bag of pretzels. I worried
                                                              about getting her to eat breakfast and taking all eight medications
                                                              before school started. She wakes each morning feeling nauseated
                                                              from her nighttime meds. Most of all, I worried about her fitting in.
                                                              Helping her be like every other child has always been our goal.
                                                              Tina has become extremely sensitive to light. So I worry that she
                                                              might forget her sunglasses at recess. Luckily, her dad is an
                                                              electrician, so he changed out the lights in her classroom and
                                                              has placed dimmer switches throughout our house. We have eaten
                                                              many breakfasts and dinners with little or no light recently. Tina’s
                                                              eyes are most sensitive in the morning. We give her morning baths
                                                              in the dark. Soon we will add cysteamine eye drops to her already
                                                              daunting medicine regime – eight medications every six hours.
                                                              The eye drops must be taken every waking hour and remain
                                                              refrigerated. They are not FDA approved, therefore they are hard to
                                                              purchase. You see the challenge, especially with a full school day.


                                                                     My tears were happy tears, as I thought about
                                                                  how far we’ve come. Five years ago we didn’t think
                                                                   our little girl would make it through another night.
                                                              I think I was the only parent who cried during the entire school
                                                              Christmas program. But my tears were happy tears, as I thought
                                                              about how far we’ve come. Five years ago we didn’t think our little
                                                              girl would make it through another night.
                                                              The other day I told Tina we were traveling to see her team of
                                                              doctors in Oregon. She asked if she’d be getting her blood drawn.
                                                              I replied, “yes.” She said in the most sincere voice, “Mom, I don’t
                                                              want to get my blood drawn this time. I want to die and go to
                                                              heaven.” I was overcome with tears and couldn’t speak. She then
                                                              followed up with, “Nichole said I would be an angel in heaven. So,
                                                              I just want to die.” I wish I had told her that she is already an angel,
                                                              here on earth. She has taught our family so much through her love
                                                              of life. Every day she lives with great passion and enthusiasm.
                                                              My only consolation is knowing that so much is being
                We hope we can continue our part to           done to find a cure. We continue to pray that Tina will
                help the CRF raise the much-needed            get a second lease on life!
                      funds to help find the cure that        Tina’s Hope for a Cure is having their 2nd Annual Wine,
                            we so desperately need.           Stein & Dine for a Cure on May 21st at Basalt Cellars Winery
                         www.tinashopeforacure.org            in Clarkston, Washington. Last year’s event was a huge success!
                                                         13
                                                 By Aaron and Stephanie Hall, Nicole’s Parents




                                           Nicole Hall
                                            N          icole receives her food – along with a cocktail of medications – through her G-tube.
                                                       The G-tube was inserted into her stomach when she was 9 months old. Nicole also
                                                       gets a daily shot of growth hormones to help her grow, along with eye drops 4 to 5
                                            times a day to prevent crystals from forming in her eyes.
                                            Nicole and her 2-year-old sister Angie love to ride bikes and build sand castles in their sand
                                            box. Nicole also loves to play pretend. Making phone calls to Handy Manny and pretending
                                            to be Dora are some of her favorites pastimes. The strength Nicole shows each day makes
                                            it obvious that she isn’t letting this disease run her life.
                                            For the second annual Running for Nicole event, things changed slightly – instead of both
                                            of us running a half marathon, we decided to enlist the help of family and friends to run the
                                            Dallas Marathon Relay on December 13, 2009. Our friends Geoff Nenninger, Michael Galiunas
           Nicole Hall, 4 years old,        and Jim Plutt ran with us as a team to complete the 26.2-mile relay.

   was diagnosed with cystinosis            We all asked our friends and family to donate to the Cystinosis Research Foundation to support
                                            us in finishing the race – with a bonus pledge if the team beat the Boston Marathon qualifying
      in August 2007, two months            time of 3 hours 10 minutes 59 seconds. The goal was very aggressive and would require that
  before her second birthday. She           each team member run their best in order to beat the time. But having the possibility of a bonus
                                            made everyone train even harder.
    started showing symptoms at
                                            Unfortunately, Stephanie had to be replaced on the team because of her asthma. Nicole’s
4 months old, when she began to             10-year-old cousin, Kristen Brom, stepped in and ran one of the legs. The team completed the
  fall off the growth chart. It took        26.2-mile marathon in 3 hours 12 minutes and 48 seconds, and placed 24th of the 705 relay
                                            teams. We are proud to report that the team earned $6,850 for Cystinosis Research Foundation.
 countless doctor visits, tests and
                                            We can’t express how grateful we are to everyone who supports the Cystinosis
       hospital stays over the next
                                            Research Foundation. It means so much to have your support. All we can say is –
        18 months before she was
diagnosed with this rare disease.           Thank You! 




       Dallas Marathon Relay team members: Geoff Nenninger, Jim Plutt, Stephanie Hall, Kristen Brom, Nicole Hall, Aaron Hall and Michael Galiunas
                                                                 14
             In 2009, the Clarke family started Jos
                                                     hua’s Journey
             of Hope (JJOH). Our nonprofit status
                                                   gives us the
            opportunity to raise funds for cystino
                                                   sis research and assist in dissemina
            disease. We are better at dissemina                                         ting materials on this dreaded
                                                 ting information, but we consider our
            The stakes are so high that we hav                                           first year a remarkable success.
                                                e agreed that this must be a major

           J
                                                                                     priority for the Clarke /Fritz family.
                   anuary through March    found us sending letters to our
                   Joshua’s diagnosis of cystinosis,                       relatives and friends. We shared
                                                     and gave the dreadful progno                           the news of
                  $14,000 in donations came in.                                    sis. By the end of March more
                                                   At the annual Cystinosis Resear                               than
           JJOH gave the entire amount                                             ch Foundation fundraiser in Ma
                                        to the CRF for research.                                                  y 2009,
           In May, the Knights of Columbus
                                           Council 14554 of Winchester
           accumulated at a “Tootsie Pop                                , CA contributed $900 to JJOH.
                                        ” drive by the Knights – a Too                                 These funds were
                                                                      tsie Pop was given to anyone
                                                                                                   making a donation.
                                                                                        During the summer I put togeth
                                                                                                                         er a
Joshua’s Journey of Hope                                                                cookbook as the next JJOH fun
                                                                                       Living in a 55+ community ma
                                                                                                                        draiser.
                                                                                                                       de it easier
   Our First Year                                                                      to collect the more than 400
                                                                                       caring grandmothers who wan
                                                                                                                     recipes from
                                                                                                                      ted to be part
          by Marianne Clarke, Joshua Clarke’s                                          of the endeavor. More than 80
                                                    Grandmother                                                        grandmothers
                                                                                      contributed their favorite fam
                                                                                                                    ily recipes to be
          Table. Recipes came from New                                                included in Favorites From Gra
                                            England, New Orleans, Arizon                                                ndmother’s
         from Russia, England, Cuba,                                         a and Colorado, as well as fro
                                        Mexico, Hungary, Japan, Italy                                       m émigré families
         success thus far. More than 850                                 and Romania. The book has
                                             books have been sold for a $20                             been a remarkable
                                                                                 donation, raising $17,000.
         On November 14, the Murrie
                                       ta Mission Knights of Columbus
         Despite inclement weather –                                        (Council 11393) had a pancak
                                       it was an outside meal – $30                                          e breakfast for JJOH.
                                                                        0 was contributed.
        We are particularly proud of
                                      our two student members of
        In November, Joshua’s 8-year                                   the board of directors.
                                      -old brother, Jonathan, asked
       aside a “jeans day” for JJOH.                                    his principal to set
                                       In lieu of uniforms, any studen
       that day paid one dollar. Jonath                                   t who wore jeans
                                         an’s school raised $410 and
       JJOH. In December Joshua’s                                        presented it to
                                     9-year-old cousin, Abigail Frit
      her Middle School Leadership                                    z, proposed to
                                        Corps that they sell candy can
      fundraiser for JJOH. After approv                                  e grams as a
                                         al, she presented the idea to her
      was given the go-ahead. With                                           principal and
                                     help from the leadership team,
      1,000 candy grams were put                                         more than
                                    together and sold, raising $77
                                                                      3 for JJOH.
      JJOH has turned into an entire fam
                                          ily undertaking.
      2009, our first year, was a tremend
                                          ous success, as we
     raised $34,000 for cystinosis resear
                                          ch. Special thanks
     to all our friends who made this yea
                                            r so rewarding.




                                                           15
                                     ate for the CRF
It is always an honor to write an upd
                                       ssed we are
newsletter. It is a reminder of how ble
                                         king life so
to be working with an organization ma
                                        cystinosis.
hopeful for those who are touched by



J  enna & Patrick’s Foundation of Hope has
   successful year, raising more than $520,000!
 family members, friends and businesses who
                                                   had a busy and very
                                                 There are many generous
                                                    have taken to heart
                                                  every day for each of
 our quest to find a cure, and we thank God
                                                    of the foundation, we
 them! As has been the case since the creation
                                               s Research Foundation,
  will pass all funds directly to the Cystinosi
                                                 y and effectively on
  where we know they will be used efficientl
                                                ately a cure for cystinosis.
  research for improved treatments and ultim
                                              us
  Jenna and Patrick are now busy, precocio
  five-year-olds and they are deal  ing with
  their disease like little warriors. They
   take their medications without
   complaints (16 doses per day) and
                                                      Jenna and Patri ck Partington
   they are developing into active, social                                          In the summer of 2009 the board members
                                                                                                                                 of Jenna &
                                                   our kids will head
    and thankfully, very happy children. Next fall                                  Patrick’s Foundation of Hope decided it was
                                                                                                                                   time to “go big”
                                                   ess I realize that
    off to kindergarten, and with a twinge of sadn                                  and have an evening fundraising event to com
                                                                                                                                    pliment the
    our babies are simply not babies anymore!                                       annual golf tournament. The first Swing and
                                                                                                                                  Bling event took
                                                                                                                                      Golf Club in
                                               stay of some sort – a sure            shape and was an amazing success! Teal Bend
    This was our first year without a hospital                                       Sacramento hosted 140 golfers in a daytime
                                                                                                                                   golf Swing event,
                                                  ins nighttime. We rise to
    sign of progress. Our greatest challenge rema                                    and that same evening the Bling event was
                                                                                                                                a sell out! This
                                                    each of the kids their
    the alarm at 1:30 am each morning and give                                       generous crowd of 235 (some giving up their
                                                                                                                                      seats to stand
                                                 be taken every six hours.
    lifesaving medication Cystagon , which is to                                                                                    tacular dinner,
                                     TM


                                                                                      at the back of the room) gathered for a spec
                                                                                                                                  l!
                                                                                      live auction and dancing at The Citizen Hote
                                                                                                                                   and Zoe Solsby,
                                                                                     Thank you to Jeff and Nancy Stack and Don
                                                                                                                                   a part of this
                                                                                     from CRF, for traveling to Sacramento to be
                                                                                     evening’s event. At the end of the prog ram, Jeff and Nancy
                                                                                                                                 from an anonymous
                                                                                     Stack presented a $250,000 matching gift
                                                                                                                                  their feet and tears
                                                                                      donor that brought the cheering crowd to
                                                                                                                                 night was something
                                                                                      to their eyes. The energy in the room that
                                                                                                                                     that every person
                                                                                      I wish I could have bottled up. It is my hope
                                                                                                                                   cherished, as Kevin
                                                                                      might feel such love, and their children so
                                                                                       and I experienced that night.




      We also change their bedding and overnigh
                                                   t pull-up pants. Because
                                                                                      K   evin and I do our best to take things one day
                                                                                            Yet, every now and then, in a quiet moment,
                                                                                       to let my mind “go there,” to that plac
                                                                                                                                        at a time.
                                                                                                                                         I am able
                                                                                                                               e where Patrick and
                                                                                                                                  but a memory.
                                                    need a lot of water, and           Jenna are healthy and where cystinosis is
      Jenna and Patrick have kidney disease they
                                                      . Naturally, water in                                                      new research
      the bigger they get, the more water they need                                    With each bit of news regarding exciting
                                                    that we’re dealing with            and improved treatments, I believe this
                                                                                                                               magnificent,
      means water out…and I’m here to tell you
                                                 size and height, proper                                                       day. Thank you
      gallons if it! Other concerns are those of                                       beautiful vision might be a reality one
                                                  (the medications are                                                           You have
       bone shape and development, oral health                                         for your continued support and prayers.
                                                  their general attitude
       wearing the enamel off Jenna’s teeth) and                                       given us such hope!
                                                    been an issue, but
       about their disease, which thus far has not                                      Love, Teresa Partington
                                                    more completely.
       may be as they get older and understand it


                                                                               16
Holt Grier
Holt is doing great! All you have to do is take one look into those big blue eyes and get a glimpse
of that infectious smile and you know that there is something special going on. I hope that you
are all doing well and that your daily walk in this fight is allowing you the time to truly appreciate
the amount of positive change that has transpired in an extremely short amount of time.


What a Difference a Year can Make
          s humble as the Stack family is,             Holt’s most special time is spent with his sister    with training wheels, he loves his scooter,

A         (I am sure that this will embarrass
          them), I want to start by thanking
them for all that they have done and all that they
                                                       Mary Logan, his brother Jack and his numerous
                                                       cousins. The older two siblings take such good
                                                       care of him, include him in all that they possibly
                                                                                                            his tricycle and just to be out in the elements
                                                                                                            enjoying life. His most special friend at home
                                                                                                            is the sweet little Alice. She and several of the
continue to do. Their efforts, leadership and          can and show great patience with him (almost)        other neighborhood children (Peyton, Madeline,
commitment have put this entire community in           all the time. We could not be more proud of the      Kaitlyn, Josh, Evan, Joel and all of the other
a position to accomplish goals that only a few         level of maturity and care that those two have       20 kids who live in our cul-de-sac!) seem to
short years ago were considered unattainable.          shown – especially when Holt “accidentally”          take special care of Holt and never hint that he
Holt had a great year and we were very surprised       destroys a Lego airplane that Jack has spent         is anything other than one of the gang. Again,
to hear just a few days ago that he is in the 50th     hours assembling. The odd thing is that it has       we are blessed to have a fantastic set of caring
percentile for both height and weight! He continues    come so naturally to all of them; brother, sister,   neighbors – just really good people who have
to attend physical therapy every other week            cousins: Rush, Elle, Will, Nash, Hayes, Zach,        continually gone above and beyond the call of
to work on his fine motor skills and muscle                                                                 duty to help.
development. I am very proud to say that his                                                                People continue to gush with kindness and we
progress has been phenomenal! Aside from                                                                    are so thankful. In addition to the kind notes
getting his mother’s natural coordination and                                                               and phone calls and countless events that are
congenial disposition, his work ethic and                                                                   done in the name of awareness, The Fine Wine
determination with his therapist “Miss Nikki”                                                               Trading Company began a Holt private wine
have enabled him to progress at a rate that is                                                              label that will help benefit the cause. The 3rd
relatively on par for his age!                                                                              annual Hearts for Holt was held February 20
The “event of the year” for Holt was the family                                                             and was another spectacular success. A special
trip to Atlantis, The Bahamas. We spent a few                                                               thanks to my sister-in-law Aubrey and my friends
days at this remarkable resort with the kids and                                                            Danny Kelly and Phillips Bragg who spend so much
some friends where he was able to slide the                                                                 of their personal time with the Hope for Holt
slides, play in the water-park and literally spend                                                          Foundation – these folks are the most selfless
hours riding in the inner-tube on the Lazy River                                                            people I have ever had the pleasure to know.
with Mom, Dad or “Miss Victoria.” I don’t think
                                                                                                            Thanks to all of you for all that you do.
that a day has gone by since our return that he
                                                                                                            Chrissy and I are truly grateful.
hasn’t uttered the phrase “when are we going
                                                       Jonah, Aidan, Ellie, Tucker. We are truly blessed
back to our Bahamas house?” Clearly I have not
                                                       to have such a tight-knit extended family and
                                                                                                            Jason Grier
mustered the strength to inform him that we
                                                       we are so appreciative of all that they do.
don’t actually own the Atlantis resort.
                                                       I would be remiss if I didn’t mention the special
Preschool has been good although he is starting
                                                       time that he spends with his Mimi, his Grammy
to have a little separation anxiety just before it’s
                                                       and Miss Victoria. It goes without saying that he
time to enter the classroom...Chrissy has the
                                                       speaks of them every day and carries a special
proverbial “Patience of Job.” His teachers have
                                                       place in his heart for these three amazing women.
been outstanding and we keep his medicine
schedule so that it does not need to be                Aside from the realities that come with the
administered at school. The 12-hour dose               disease, Holt is living as normal a life as we
of cysteamine cannot come soon enough!                 could possibly expect. He started to ride a bike



                                                                           17
CRF
                                              The Cystinosis Research Foundation is governed by a dedicated Board of Directors. We are
                                              grateful to all the community leaders, friends and cystinosis families who have contributed
                                              to the development and advancement of CRF by serving as members of the Board. We are
                                              pleased to announce two new members starting in 2010: Tricia Sturgis and Bruce Crair.



CRF BOARD PRESIDENT
                                             CRF WELCOMES TWO NEW BOARD MEMBERS
Geoffrey L. Stack
Managing Director
SARES•REGIS Group                                                    Tricia Sturgis, Treasurer and Administrator, 24 Hours for Hank
                                                                     Tricia Sturgis brings daily, hands-on experience
CRF BOARD SECRETARY
                                                                     with cystinosis to her current role as mother of
Nancy J. Stack
President                                                             3 ½ year old Hank, diagnosed with cystinosis in
Cystinosis Research Foundation                                        2007. She is co-founder of 24 Hours for Hank,
                                                                       a nonprofit organization dedicated to finding a
CRF BOARD TREASURER                                                    cure for cystinosis in partnership with CRF. Tricia
Donald L. Solsby                                                        set up the foundation’s legal requirements, while her husband Brian
Senior Vice President,
                                                                        Sturgis and their friend Rob Timmons chose the Board. Rob is the board president
Director of Business Banking
                                      and works closely with Tricia and Brian on a weekly basis. Tricia serves as treasurer and administrator of 24 Hours
Independence Bank
                                      for Hank. Tricia also helps with event marketing, sponsorships and event coordination. 24 Hours for Hank raised
CRF BOARD MEMBERS                     more than $100,000 dollars in its first year of operation through a 24-Hour Bike Race and 24-Hour Ski Relay,
Renee Carter                          and there are more exciting events planned for 2010.
Community Leader
                                      Before Hank was born in 2006, Tricia practiced law for two years as a bankruptcy attorney in Salt Lake City. She holds
David Christensen                     a BA in art history from the University of Washington in Seattle and a juris doctorate from Golden Gate University in
President, Strategic Consulting
                                      San Francisco. Tricia is a member of the Utah State Bar.
Bruce Crair
President/COO                         Tricia is very dedicated and passionate about doing all she can for children with cystinosis. It has been her dream
Local.com Corporation                 to be involved with talented people who make a difference in the world, and she is honored to be a part of the CRF
                                      board. She wants to be on the front lines ready to fight this battle.
Kris K. Elftmann
President, Noelle Marketing Group
Jason K. Grier
Vice President                        Bruce Crair, President /COO, Local.com Corporation
Worldwide Consumer Support
McAfee, Inc.                          Bruce Crair is the President/COO of Local.com Corporation (NASDAQ:LOCM). Bruce has
                                      demonstrated success in developing rapid growth, customer centric telecommunications
John S. Hagestad
                                      and high-technology organizations. As President/Chief Operating Officer, Crair spearheads
Managing Director
                                      strategy, marketing, operations, sales and business development for Local.com. Prior
SARES•REGIS Group
                                      to Local.com, Bruce was Co-Founder and Chief Operating Officer of ZeroDegrees, Inc,
Lynette Hayde                         where he led the company from startup through its sale to InterActiveCorp. (NASDAQ:IACI).
Consultant/Philanthropist
                                      Before ZeroDegrees, Bruce was the President and Chief Operating Officer of eVoice, Inc.,
Michael K. Hayde                      an integrated IP telephony services company, where he led the company from start-up to
Chief Executive Officer               more than 1.8 million customers in two years, culminating in the sale of the company to America OnLine.
Western National Group
                                      Prior to eVoice, Crair was President and Founder of Sprint PCS/Cox Communications PCS, L.P. where he successfully
Kevin Partington
Senior Vice President                 built the wireless voice communications company from inception to a leadership position in the PCS/cellular market.
Colliers Seeley                       During his three years overseeing the business, revenues grew to over $200 million per year and the number of
                                      employees expanded to over 1100.
Teresa Partington
Jenna & Patrick’s Foundation          Mr. Crair has been a requested speaker at the adtech Chicago conference, Search Engine Strategies, Pelorus Group’s
of Hope                               Mobile Local Search conference, WebmasterWorld PubCon conference, the Cellular Telephone Industry Association (CTIA)
Jerry Schneider, MD                   National Conference, the Personal Communications Industry Association (PCIA) National Conference, and many others.
Dean for Academic
                                      Mr. Crair has a BS in Physics from the U.S. Naval Academy and a MBA from the University of California, Berkeley.
Affairs Emeritus
University of California, San Diego   Mr. Crair lives in Orange County, California with his wife, Cathy, and (four-legged) kids, and currently sits on the boards
Tricia Sturgis                        of several privately held companies and charities. He enjoys working with organizations and people with clear goals
Treasurer and Administrator           and proven success records, and is looking forward to contributing his expertise and experience in online marketing
24 Hours for Hank                     and social networking to the CRF.


                                                                          18
     2009 CRF RESEARCH STUDIES FUNDED AND COMMITTED – $3,331,496
                                                               SPRING                 AUTUMN
                                 Corinne Antignac, MD, PhD, Mentor                    Bruce Barshop, MD, PhD, Principal Investigator
                            Zuzanna Andrzejewska, Research Fellow                     University of California, San Diego
                                             Hospital Necker, Paris, France           “Improvement of Intracellular Cystine Measurement”
                 “Role of Cystinosin in Trafficking and Membrane Fusion”              $62,930 – 1-year study
                                                   $126,000 – 3-year study
                                                                                      Bruce Barshop, MD, PhD
                     Stephanie Cherqui, PhD, Principal Investigator                   University of California, San Diego
                        The Scripps Research Institute, La Jolla, California          “Tandem Mass Spectrometer Support”
                                  “Stem and Gene Therapy for Cystinosis”              $160,604 – 1.5-years
                                                $750,691 – 2-year study
                                                                                      Bruce Barshop, MD, PhD, Mentor
                       Alan J. Davidson, PhD, Principal Investigator                  Ilya Gertsman, PhD, Research Fellow
                    Joseph P. Vacanti, MD, Co-Principal Investigator                  University of California, San Diego
                                  Harvard Medical School/Mass. General                “Proteomic Based Identification of Cysteinylated Proteins in Cystinotic Cells”
                          “Developing New Models of Cystinosis: Zebrafish”            $124,214 – 2-year fellowship
                                                 $75,000 – 1-year study
                                                                                      Stephanie Cherqui, PhD, Principal Investigator
                           Ranjan Dohil, MD, Principal Investigator                   The Scripps Research Institute, La Jolla, California
                         Betty Cabrera, BS, MPH, Research Assistant                   “Stem and Gene Therapy for Cystinosis” Supplemental Funding
                                      University of California, San Diego             $163,340 – 2-year study
                                  “Various Cystinosis Research Projects”              Stephanie Cherqui, PhD, Mentor
                                                $228,648 – 3-year study               Brian Yeagy, PhD, Research Fellow
                      Miriam Sach, MD, PhD, Principal Investigator                    The Scripps Research Institute, La Jolla, California
                                     University of California, San Diego              “Stem and Gene Therapy for Cystinosis”
                            “Neural Correlates of Executive Functioning               $138,485 – 2-year fellowship
                                  in Cystinosis; a Structural MRI Study”              Pierre J. Courtoy, MD, PhD, Principal Investigator
                                                 $65,725 – 1-year study               de Duve Institute, Brussels, Belgium
                         Mary L. Taub, PhD, Principal Investigator                    “Lessons from Cystinotic Mice: Vital Imaging of Protein Handling
                                  State University of New York at Buffalo             and Lysosomal Function, Reciprocal Interactions with Regulatory
              “Mechanisms Underlying the Fanconi Syndrome in Cystinosis”              Kinases, and Regeneration Potential by Transdifferentiation”
                                                $103,437 – 1-year study               $236,000 – 2-year study

                           Doris Trauner, MD, Principal Investigator                  Ranjan Dohil, MD, Principal Investigator
                                        University of California, San Diego           University of California, San Diego
                                 “Psychological Functioning in Cystinosis:            “A Study to Evaluate Enteric-Coated Cysteamine Therapy in Patients with Cystinosis”
                                  Stress and Coping with Chronic Illness”             $27,226 – 1-year study
                                                   $66,624 – 1-year study             Paul Goodyer, MD, Principal Investigator
                                                                                      Montreal Children’s Hospital, Quebec, Canada
                            Kang Zhang, MD, Principal Investigator
                                                                                      Francesco Emma, MD, Co-Investigator
                                      University of California, San Diego
                                                                                      Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
                    “Eye Targeted Gene Therapy for Cystinosis in the Eye”
                                                                                      “Stem Cell Microvesicles Rescue Cystinosis in Vitro”
                                                $321,346 – 2-year study
                                                                                      $308,602 – 2-year study
                                                                                      Elena Levtchenko, MD, PhD, Principal Investigator
                                                                                      University Hospital Leuven, Belgium
2010 Call for Funding Proposals                                      earch and
                                                                                      Roos Masereeuw, PhD, and
                                 tion will announce A Call for Res                    Lambertus van den Huevel, PhD, Co-Investigators
The Cystinosis Research Founda                                       prepared         Radboud University, Nijmegen, The Netherlands
                                  ing and autumn of 2010. CRF is
Fellowship Proposals in the spr                                         young         “Role of P-glycoprotein Expression and Function in Cystinotic Proximal Tubular Cells”
                                     immediate care of children and
to fund proposals to improve the                                       tment of       $83,999 – 1-year study
                                   elop new understanding and trea
adults with cystinosis and to dev                                       focused
                                    in the future. In addition, CRF is                Robert Mak, MD, PhD, Principal Investigator
 cystinosis to help these children                                        trials.     University of California, San Diego
                                   h that will result in human clinical
 on funding translational researc                                    in the           “Energy Homeostasis and Muscle Wasting in Nephropathic Cystinosis”
                                   00 available for grants awarded
 The Foundation has over $750,0                          depend on the number
                                                                                      $150,000 – 2-year study
                                        their value will
 spring. The number of awards and                               in 2010.              Holger Willenbring, MD, PhD, Principal Investigator
  of outstanding proposals  received and the funds available                          University of California, San Francisco
                                                                                      “Pluripotent Stem Cells as a Source of Immunocompatible Renal
                                  llo hips
 Cystinosis Research Foundation Fehed ws tdoctoral                                    Progenitor Cells for Therapy of Nephropathic Cystinosis”
                                      a pos                                           $138,625 – 1-year study
                                   tion has establis
  The Cystinosis Research Founda                                       stigators
                                    attract qualified, promising inve
  research fellowship program to                                          for
                                      research. Fellows will be funded                      To review the full abstract of any of the studies visit
  to establish careers in cystinosis
                                     ,000 per yea r. Applications will be available         www.cystinosisresearch.org – Cystinosis Research
  1–3 years to a maximum of $75                            Funding Proposals.
   in conjunction with  the spring and autumn Call for                                      Foundation Science Report or to receive a printed
                                      .org for det  ails.                                   copy, email info@cystinosisresearch.org
   Visit www.cystinosisresearch
                                                                         Fore A Cure supporters Simee Kristjansson, Tournament Chairman Vince Ciavarella, CRF Director
                                                                         Jeff Stack, event volunteer coordinator Amy Yovan, Peter Rooney and Mike Wood.
                         ANNU
                 IRD                 AL
            TH




          GOLF TOURNAMENT
              N A T sA RL sIe aE c’hS W I S H
                 n o is e
               Cy st i
                                r    F
                                  o un da
                                          t io   n




Golf Tournament raises $165,000                                                                                      SPONSORS
                                                                                                                     Presenting Sponsor: Ross Plastering, Inc.
                                                            he sold-out tournament of 144 golfers
                                                     T     enjoyed perfect weather and praised the
                                                     tournament as “incredibly well organized,”
                                                                                                                     Silver Sponsor: SARES•REGIS Group
                                                                                                                     Bronze Sponsors: Bank of the West
                                                                                                                     Budge and Carol Collins
                                                     and “a perfect day of golf.” New foursomes
                                                                                                                     Media Sponsor: Orange County Business Journal
                                                     and sponsors participating for the first time
                                                      were eager to secure a spot for next year’s                    Other sponsors included: Noelle Marketing Group;
                                                      tournament. We are thankful to all the                         First Regional Bank; Contractors Flooring Service;
                                                      companies and individuals who contributed                      Chapman, Glucksman, Dean, Roeb and Barger;
                                                      to the success of the tournament. Their support                Lincoln Property Group; Centerline Capital Group;
                                                       is particularly meaningful in these challenging               Cornerstone Real Estate Advisors; Robert Alter;
                                                       economic times.
                                                                                                                     John Markley; James Thomas; Mechanical Air
                                                      The day began as players checked in and                        Control; Moran & Company; Dzida, Carey &
                                                      received their “goodie bags” – large L.L.                      Steinman; Champion Fire Systems; Curci Turner
                                                      Bean tote bags filled with a fantastic                         and Gannon Design
                                                      assortment of gifts including a Quiksilver
                                                      dress shirt and sports watch, a Carnoustie                     LIVE AUCTION DONORS
                                                       golf shirt, a sleeve of Titleist Pro V1 golf                  Marianne and Dave Clarke, Kris Kristjansson
                                                       balls donated by Eagle Construction,                          and Integrated Lath & Plaster, Carolyne and
                                                       a bottle of wine donated by Firestone                         Kim Megonigal, Nancy and Jeff Stack
Aaron Hall, Clay Ost, Jim Plutt, and Mike
Spruiell golfed in honor of Nicole Hall.               Vineyards, and water bottles and ball
                                                                                                                     SILENT AUCTION AND RAFFLE DONORS
                                                       markers donated by Independence Bank.
                                                                                                                     ADLINK, Anaheim Ducks, Herman Appel of A-La-Carte
On the course, the players participated in contests for the Longest Drive and Closest to                             Catering, Bluewater Grill, Bob Brans, David Buchanan
the Pin. Fabulous Hole-in-One prizes were provided by Fletcher Jones Motorcars and                                   of Tyee Wine Cellars, The Catalano Family, Vince
Traditional Jewelers of Newport Beach. A hearty lunch was provided by Wahoo’s Fish Tacos.                            Ciavarella, Coto de Caza Golf & Racquet Club, Donna
Many sponsors set up information booths on the course with snacks and prizes for the                                 and Ron Dyer, Fox Sports West, John Hamilton and
golfers. Special thanks to Delta Wye Electric, AAA Property Services, Sanders & Wohrman,                             the Newport Sports Museum, Howard Roofing,
The Wine Club, SERVPRO of Tustin, and Real Page for their support and participation.                                 Island Hotel Newport Beach, KCBS, KCAL, KKGOFM,
Following the tournament, cocktails and hors d’oeuvres were served during a silent auction                           KNBC TV, Ron Loutherback of The Wine Club, Jill
that netted more than $8,000. Following a steak dinner, a live auction gathered over $ 8,200.                        and John Manly, PACWEST Security Services, Pink’s
The outstanding dinner wines were provided by Ron Loutherback and the Wine Club.                                     Famous Hot Dogs, Henry Schielein of the Balboa
                                                                                                                     Bay Club, Janet Schafhausen, Zoe and Don Solsby,
                                                                                                                     Nancy and Jeff Stack, Tiger Woods Foundation,
                                                                                                                                       Western Colloid, Westwood One
Thanks to tournament Chairman,
                                                                                                                                      Metro Networks, Jerry Winner
Vince Ciavarella, his tournament
                                                                                                                                      of Hugs from Shaun
committee, and more than 25
volunteers and countless others who
worked for many months to make
this day a complete success both for
CRF and all those who participated.                                                                                                                  CYSTINOSIS RESEARCH FOUNDATION
                                                                                                                                                     NATALIE’S WISH

                                                     Delta Wye Electric, Own A Hole Sponsor and Foursome: Carl Kasalek Sr.,
www.cystinosisresearch.org                           Tasha Kempton, Shannon Wiese, Carl Kasalek Jr., Jim Mooso, and Frank Velasco.

								
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