By Lindsay, SLC6A1, United Kingdom, February 24, 2021
Our kids are the best of friends. They are a cheeky, caring, funny pair who are learning to share the world around them. Sadly, they now share a rare disease. SLC6A1 was discovered in 2015. Our son was diagnosed at 2yrs old in 2018 after suffering from hundred's of seizures a day. He has developmental delay, speech and language delay, hypotonia, autsism and epilepsy, and despite all of this adversity, he is an amazing child, determined, bright and happy. As parents we tested negative for this disease, and yet to our dismay, our daughter also displayed the same rare seizure activity as a baby and has been diagnosed at 1yr. Research for better treatments and a cure cannot come soon enough for our family. We fear their futures, and what this disease has in store for them.