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by Shannon Reed Amera is our sweet 3 year old daughter who battles an extremely rare genetic disease called ACER3 related early childhood onset progressive Leukodystrophy. There are only about 20 known cases of this type worldwide! Our daughter was diagnosed with this progressive disease at age 2. She was initially presumptively diagnosed with other …
Dylan was born on April 15, 2009, Daddy’s Little tax Deduction! For the first 5 months he progressed like a normal child, until one day, which seemed like a case of collie, he was taken into Children’s Hospital of Pittsburgh, by his new, first time mom. The visit proved to be anything than routine. After …
From PatientWorthy.com After coming back from the Global Genes conference, Kristie was convinced that establishing a foundation was the right next step to advocate for a cure for Refsum Disease. With the help of other patients and family, Global DARE Foundation was formed with 5 board members. DARE stands for Defeat Adult Refsum Everywhere. The first board …
“Until February 2013, our 2-year-old son Sam was completely normal child, no problems with his pregnancy or birth, he met every milestone, and overall was healthy. He would trip and fall a lot, but we never thought anything of it. Then on February 23, 2013, Sam was playing on our bed. He fell off and …
by Jen Moss, originally posted here: Mountain Parent Our story pivots around one precise moment. A phone call one afternoon in May 2016 almost four years ago. Every life event before and every moment since is redefined now in relation to the information we received that afternoon. The rest of that particular day is a …
by David Crawley My son Henry is our first born, next to his beautiful and helpful 4 year old sister Rosemary. Henry is 5 years old (about to be 6) and he’s a happy, thoughtful, wonderful, kind, and loving little boy. He is very curious, imaginative, and funny. Every day he teaches me how to …
by Alan Fingeroot Our son Andy died of Canavan disease when he was 15 years old. This is our story. No parent should have to endure the heartache of a child affected with a Jewish genetic disease. These diseases are preventable if you know your carrier status before you get pregnant. Andy was a beautiful …
by Annika Jorgensen I am his mother (from Sweden) and he has an American father, Marcy. We have two daughters Amanda and Johanna, who are both older than Nicki. We were divorced before Nicki turned ill and his father lives in the States. When we were married, I lived in the States for 10 years. …
by Colleen Kintner Kristy was 6 years of age when she was diagnosed with Metachromatic Leukodystrophy. We felt very lost and alone. We were blessed to have a quick diagnosis because Kristy’s pediatrician had studied with one of the experts here in California at UCLA. Bill looked up articles about leukodystrophy and the name Dr. Hugo Moser …
by John Wolf The ULF has been a part of my life for nearly 14 years. My involvement began shortly after my daughter, Ashley was diagnosed at the age of 10 with Cerebrotendinous Xanthomatosis (CTX) in 1994. After the initial shock of the diagnosis wore off, we took it upon ourselves to learn as much …
