What it felt like when we learned our child has SLC6A1?
Devastation. It was the scariest feeling in the world to look into the eyes of a doctor who said not much is known about the disease because it’s so incredibly rare. It was truly a worst nightmare come true. We always suspected something was wrong, but hoped and prayed it would be a minor issue that he could grow out of or could be treated with a medication. Receiving this diagnosis felt like our hopes and dreams for Charlie were instantly ripped away.
How did you know something was wrong?
When Charlie was just a week old, we mentioned to his pediatrician that he sometimes exhibited a shivering behavior. We didn’t understand at the time that shivering would be a red flag for seizures; we simply thought it was odd and hadn’t remembered the same for our daughter. The doctor was immediately concerned about possible seizures but since she never observed the shivering and we were unable to catch it on video, we were left with instructions to monitor it. We hoped it was a fluke.
At around 5 months old, though, Charlie started having upper body tremors. These were much stronger than a shiver and they became very frequent. From there we began our hunt for answers, beginning with requesting genetic testing from a neurologist. Charlie then started missing milestones- the biggest being his ability to use his hands to eat or play. He would stare at them like they weren’t attached to his body. He knew they were supposed to do something but was unable to tell them to work. Our gut always told us there was something very wrong with that behavior. Charlie was a year old before he could get food from a plate to his mouth. He failed a state provided development assessment of occupational and intellectual skills at 10 months old. We immediately began OT weekly- he still struggled.
Around Charlie’s 1st birthday we received notice that genetic testing had been declined by insurance and it would take over a year and a new insurance policy before it would be approved. Charlie underwent an MRI and a Spinal Tap and both came up normal. Some doctors were ready to call it quits, but we were more determined than ever. At 18 months we started to notice an intense speech delay when compared to other boys and girls his age. We began speech therapy right away. Three months later we received his genetic test results, which explained everything and left us with a thousand more questions.
The hardest part of being an SLC6A1 family?
An incredibly hard realization we had was that there is a potential cure but since this disease affects so few, little funding goes towards it. It is heartbreaking to imagine so much funding allocated to other diseases that aren’t anywhere close to a cure, while this disease could be wiped off the map and the funding isn’t there. It seems backwards.
What are your dreams for Charlie?
Our dream is that this disease will not define Charlie. That he will be cured before he is 3 and live a normal, healthy life. That he will be seizure free and able to learn and thrive. That his full-of-life spirit is never lost or masked by seizure medication. That he knows how much we love him, and he is able to fulfill his biggest dreams and not be held back by this awful disease.
Why would you like people to donate to Arthur’s Quest?
We ask for donations for a chance at life. A chance for not just Charlie, but all children with this disease today and those to come. There is an opportunity to cure a disease that affects so many more than what the statistics say. Genetic testing is done by few, therefore SLC6A1 likely affects thousands more who are living with epilepsy. Imagine the lives they could lead, and envision the impact that they could have if only they too were cured. The possibilities are