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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: email@example.com 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 firstname.lastname@example.org 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 email@example.com 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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