Connecting

I spend a lot of time googling random stuff on the internet and have clocked hours, if not days, searching for anything and everything related to creatine deficiency syndromes. In my most recent mad and furious google search, I found another family affected by Creatine Transporter Deficiency! I'm now in touch with six SLC6A8 families!

I've emailed briefly with the mother and we plan to connect by phone this week. Her 15 year old son has severe speech delay, moderate intellectual disability and a seizure disorder. He was diagnosed several years ago but they had to wade through many diagnoses for years before this was confirmed. In a way I feel fortunate that my son was diagnosed so quickly. This proves how far research has come in just a few short years. Here's hoping that one day there will be a cure for this.