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Our Story
On August 22, 2019, we received the devastating news that our sweet and innocent Charlie has a rare genetic disease—so rare, in fact, that it doesn’t even have a name yet. It’s currently identified by the affected gene, SLC6A1.
Since Charlie was just a few months old, we’ve been searching for answers, as he has experienced tremors, possible seizures (now confirmed), and delays in reaching nearly every milestone.
With fewer than 500 cases of SLC6A1 reported worldwide, some common symptoms have been identified, including physical limitations, autism, intellectual disabilities ranging from mild to severe, speech delays, behavioral issues, and debilitating epilepsy.
Despite our suspicions that something was wrong, receiving a diagnosis with no FDA approved treatment or cure has been devasting.
However, there is hope. Almost immediately after the diagnosis we joined forces with Amber Freed, who quit her job after receiving the same diagnosis for her son Maxwell, 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.
Every dollar raised goes directly towards developing this life saving treatment. Thank you for your support in giving our little guy a chance at the life he deserves.
What SLC6A1 Looks like for Charlie:
Charlie is 6 years old and just transitioned to a mainstreem Kindergarten classroom with Para Support.
He currently suffers from cognitive delays, behavior issues, anxiety, autism, seizures and ADHD. In addition abnormal movements and prolonged eye flutters are a part of his daily routine. We believe these are ticks, but thankfully they are 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:
We recently began ABA therapy, and it’s been life-changing. Charlie has gone from receiving minimal classroom instruction due to behavioral challenges to actively learning alongside his peers. It’s incredibly important to us that Charlie is seen as more than just his behaviors. At his core, he is a sweet boy, but his struggle to process the world often leads to inappropriate responses.
Every day, we work hard to help him develop the skills he needs to succeed. He continues with OT, PT, and Speech Therapy, and we remain hopeful about his progress—though navigating the unknowns is tough.
As always, we are grateful for the love, support, and endless #Hugs4Charlie from 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.
Our Family
