Jack’s Story

When my son was diagnosed with a genetic difference causing a non-functioning SETBP1 gene, we were told he was 1 in 7 billion. We had no one to lean on, no one to turn to for guidance, and just felt concern for his future. After years of therapy and feeling lost, we had him evaluated at the Scottish Rite Temple in Stockton to further his speech therapy. After University of the Pacific staff and graduate students looked at Jack’s case, they began research and found a neurologist in Boston who wanted to research Jack’s affected gene! After contacting his staff, they directed me to the SETBP1 Support Site on FB and we came to realize we are NOT alone!

There was a Facebook page just for the families of children with an affected SETBP1 gene! There are about 45 other families across the globe. Their children either have a deletion of the gene altogether or have a partial or mutated gene. Jack is different in the fact he has both genes but one is not functioning. FINALLY, I have found “our people.” I had tons of questions and sought advice in many areas from these families. The oldest is a 19 year old boy who just got a part time job! It’s interesting because a lot of our kids look alike and have similar facial features. One boy looks exactly like Jack, just 10 years old. This society has helped me in so many ways… to answer questions not even doctors could tell us but mostly to give us hope for the future. It isn’t a complete unknown anymore! These other families have given me so much insight and I am so thankful I have found them through the SETBP1 Society! – Erika Reese