Just before Charlie's 2nd birthday he was diagnosed with a debilitating genetic disease so rare that it doesn’t even have a name. Being the only known child in Kansas City and with less than 500 known cases worldwide this incredibly rare disease is referred to by the specific gene that is impacted, SLC6A1, which causes epilepsy, autism, movement disorder, ADHD and global developmental delays.
Charlie is now 6 years old and has spent the last 4 years in and out of every therapy you could think of, we travel all over the country for medical care and he has been on a medication journey that no child should endure. Finally, we have Charlie's seizures under control, because of YOU, our supporters, who helped us fund a clinical trial for a medication that would treat this symptom of the disease. Now our daily focus remains on his behavior, social and cognitive growth. He started kindergarten this fall with para support in a mainstream classroom, and although we are so excited to see him grow alongside his peers, the older he gets the harder these issues become to manage. So we remain focused and dedicated to working with researchers worldwide to develop a gene therapy for SLC6A1, as this is truly the only trreatment that will help Charlie and our family live a healthy and happy life.
Please follow our journey and consider a donation to help Charlie and many other children battling SLC6A1 have A BETTER CHANCE AT LIFE!
