The story of Yohanna
My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was concerned. I spoke with his pediatrician, but he said not to worry, that he will catch up. However, I knew something was wrong with him, and I had to figure out what it was. We started Early Intervention, and at 22 months, he was diagnosed with Autism. During his time in EI, I felt that he was not accomplishing much, and the delays I saw were telling me that there was something else going on. I kept looking for answers, and in February 2020, we received the devastating news that our son has a rare disease that is so rare it doesn’t even have a name, and it is referred to by the gene affected. This disease is SLC6A1. SLC6A1 causes debilitating epilepsy/seizures, intellectual disability, involuntary body movements, and language impairment. After Xander’s diagnosis, our family focuses on fundraising for the non-profit SLC6A1 Connect and participating in research towards treatment will Allstripes. I just want to say to those families that have a member with a rare disease keep going, you’re going to find the answer, but you need to keep going and never give up.