By Janet, SLC6A1, United States, February 21, 2021
Jack is a wonderful 7 year old boy. He is smart, funny, curious, and kind. He also has SLC6A1, a disease so rare, it doesn't even have a name. Jack suffers from epilepsy, apraxia of speech, developmental delays, and cognitive delays. This gene was discovered in 2015 and Jack was diagnosed in 2017. There has been a lot of progress in research for SLC6A1 over the past few years. It is my hope, that some day soon, a drug can be developed that will target the mutated SLC6A1 gene to help it function better in order to help Jack, and the other children with SLC6A1, live their best lives possible.