On August 22, 2019 we found out that our sweet, happy Charlie has a rare genetic disease... so rare, in fact, that it doesn’t even have a name. Right now, it is identified by the affected gene, SLC6A1. We had been searching for answers since he was only a few months old, as Charlie has been affected by tremors, possible seizures (that have now been confirmed as seizures), and delays in milestones - but even though we suspected something was wrong, this news has hit us really hard. While there have been less than 100 reported cases of SLC6A1 worldwide, some common symptoms of the disease have emerged... physical limitations, autism, mild to severe intellectual disabilities, speech delays, behavioral issues and debilitating epilepsy.
Charlie lights up our world, and he and his big sister Addie are the most important part of our lives. He loves hugs, balls, music, dancing, football, dogs, his dad, sometimes his mom, food and most of all his sister and family, and his life is just beginning. We have never felt a deeper pain than getting his diagnosis. Those who know us, know we are planners, and have planned everything around our kids and their future. When we received Charlie’s diagnosis, it was like Charlie’s entire future got ripped away from him. Looking into the face of our innocent, kind, loving boy - who is only 2 years old - and knowing how difficult his life could be is just crushing.
However, there is hope. Almost immediately after the diagnosis we connected with Amber Freed, who is, in short, a rock star. Her boy Maxwell, who is 6 months older than Charlie, was diagnosed with SLC6A1 in the summer of 2018. Immediately after the diagnosis Amber quit her job and began tirelessly looking for a cure for this disease. With the medical and scientific team that Amber has assembled, we will develop a gene replacement therapy cure for Charlie and Maxwell. They are already testing a potential cure in mice and seeing promising results. But we're in a race against the clock because now that we know he is actively having seizures we fear that one could lead to regression and alter his life path forever.
We are confident we will succeed, and this will be a footnote in Charlie’s story. Thanks for your support in giving our little guy a chance at the life he deserves.
What SLC6A1 Looks like for Charlie:
As we near Charlie's third birthday many of his delays seem overwhelming.
Using utensils during meals is still a struggle, but he is progressing with a spoon when eating yogurt and apple sauce. We recently introduced puzzles for some fine motor practice; it was a rough start, but after a couple weeks he is doing much better, and enjoying it. Speech therapy is helping a lot, Charlie is now able to say countless words, although they are often difficult to understand, it is game changer in our overall communication and considerable improvement over him screaming in frustration when he didn't know how to relay the information that he wanted to. Tremors are still a part of his life, but less frequent. Anxiety is still prevalent and may never improve, especially if his favorite animal (dog), comes too close to him (he prefers them from a distance), when he is getting a haircut, and going underwater during swimming. Abnormal movements and prolonged eye blinking are also a part of his daily routine. We believe these are small and quick seizures that are disruptive, but not debilitating to his ability to learn and gain new functions. We can't help but worry as the disease advances that could change dramatically.
What is next for Charlie:
Continued OT, PT and Speech Therapy which he is currently receiving weekly. These are crucial to Charlie's ability to learn new skills. We are hopeful that he will continue to progress, although the unknown is very difficult to cope with. And as always lots and lots of #Hugs4Charlie and support from his friends and family!
We are confident we will succeed, and this will be a footnote in Charlie’s story. Thanks for your support in giving our little guy a chance at the life he deserves.