Cystinosis Foundation, Inc. Beyond Borders
Written by Valerie Hotz, published 2 months ago.
When my beautiful 1 ½ year old nephew was diagnosed with cystinosis in 1982, there was no approved treatment available, no support group, nowhere to turn. Nothing. No one we knew had ever heard of cystinosis. Our family immediately began researching and quickly discovered a pediatrician who was an expert on this rare disease, Dr. Jerry Schneider.
We found an experimental study was underway involving two different drugs, cysteamine and phosphocysteamine. My nephew became involved in this study. It was not until 1994 that cysteamine was approved by the U.S. Food and Drug Administration and remains the only treatment for cystinosis. Studies to treat cystinosis in the eyes began in 1986 and in 2011 we eagerly await news from Sigma-Tau this summer regarding final FDA approval of Cystaran, a treatment for cystinosis in the eyes.
Back in the early 1980’s, there was nowhere to turn. In a conversation with Dr. Schneider, my mother, Jean Hobbs-Hotz, asked Dr. Schneider what she could do to help. He mentioned that he had always wanted a support group for the cystinosis families he saw in clinic. Dr. Schneider recognized the benefit of having families connected and sharing experiences together. It was very important to educate families about cystinosis, including for instance, the fact that it is a recessive trait and is inherited. Our first meeting took place in Northern California in 1983 and Dr. Schneider attended, along with a handful of families who lived in the area. Research took place at that very first meeting. Parents who wanted to participate had their blood drawn to test for carrier status. By 1985, the Cystinosis Foundation hosted the first educational conference in Bethesda, Maryland.
To date, the Cystinosis Foundation has hosted 25 unique educational conferences for families and medical professionals, taking this important mission internationally in 2000. In addition to improving the level of care of cystinosis patients, this respected and valued program has contributed to strengthening the international scientific community, ultimately further benefitting cystinosis patients and their families.
We are pleased to announce the publication of “Nephropathic Cystinosis Explained to Children”. This easy to understand booklet is the result of collaboration between the Cystinosis Foundation, Orphan Europe and William van’t Hoff, MD. Please visit www.cystinosisfoundation.org to order a copy.
As you review this web site, you will notice the incredible number of support groups located on four different continents. We encourage you to use this site to communicate with one another. The human translation feature makes it easier than ever before to reach out to our international community. Volunteer moderators help ensure this is a reliable source of information. Eurordis and NORD are nonprofit organizations and ensure your information will not be sold.
It is a pleasure to welcome you to this forum, where you can engage with friends across the miles and have your information remain secure. Many thanks to Eurordis and the National Organization for Rare Disorders for partnering to bring this program to the world wide web.
Written by Valerie Hotz, published 2 months ago.
