NAME: JC (John Christopher)
CURRENT AGE: 6
HOME TOWN & STATE: Mount Bethel, PA
DIAGNOSIS DATE: January 2020
PARENTS: Laura & John
SIBLINGS: Michael (2.5)
What it felt like when we learned our child has SLC6A1?
It’s hard to put it into words, but when we learned that JC has SLC6A1 we were somewhat relieved. However, it also led to another avenue filled with questions (many unanswerable) and a multitude of unknowns. We were dealing first with intractable epilepsy, so to find the root of that was promising. We were hopeful that JC’s delays were a result of the epilepsy too, but it is more likely that both are caused by SLC6A1.
The hardest part of being an SLC6A1 family?
The hardest part is knowing that there is potentially a cure and answer for our kids but we’re forced to wait. It’s incredibly frustrating knowing that research and funding are typically only reserved for ‘bigger’ diseases. It doesn’t seem fair. Another difficult aspect is knowing that there is so much that is still not known about this terrible disease. When we met with Dr. Ingo Helbig, one of the neurogeneticists who discovered SLC6A1, he said, “JC tells us more about SLC6A1 then SLC6A1 tells us about JC.”
What are your dreams for JC?
Our dreams for JC are probably no different from any other parent, but firstly, we’d love for him to be seizure free so that he may reach his full potential. We will provide him with every possible opportunity to help him reach that potential!
Why would you like people to donate to SLC6A1 Connect?
We want people to donate so that JC and all of the other affected children have the chance to fulfill not only our dreams for them, but their dreams for themselves. Anyone donating should know that 100% of their hard earned money is going towards research and a cure, and that this group of Moms and Dads are not going to stop until that goal is met.