On March 27th, 2020 we received the devastating news that our spunky, silly and sweet William 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. It has been a years long pursuit to find an answer to William’s struggles, which were noticeable around five months of age. 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.
William is an absolute treasure to be around. He is a die-hard Iowa State Cyclones fan with a love of all sports, Mickey Mouse, school, snacks and his younger siblings, James and Elizabeth. He has THE BEST belly laugh and loves to make others laugh. He truly finds joy in bringing joy to others. We will never forget the very moment we received the call of William’s diagnosis. It was the most saddening and debilitating feeling to know that your child, whom you would give your life for to ensure a happy life of their own, would not have the same opportunities as his siblings, cousins and friends. The heartache was even deeper after it was confirmed that William was having upwards of a dozen seizures in just the span of an hour.
However, there is hope. We quickly turned our grief into action. We began researching the disorder and looking for support. We continued to see the same non-profit and the same name associated with it; SLC6A1 Connect and Amber Freed. Amber is a mother and undoubtedly the greatest pioneer for rare disease families. Her boy Maxwell, who is 2 months younger than William 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 William, Maxwell and the other children across the world affected by this devastating disorder. We’re in a race against the clock because now that we know William is actively having seizures, we fear that one could lead to developmental regression and alter his life path forever.
It is not a matter of if the cure exists, it is a matter of when it will be created. Funding for a cure must continue, we have no other option. It has become our life’s mission to fund what we can and fundraise with our new friends; the families of William’s peers affected by the disorder.
What SLC6A1 looks like for William:William struggles with developmental delays, mostly with his speech and fine motor function. He also has dozens of seizures throughout the day. Seizures that have proven to be incredibly hard to manage with multiple medication trials. William also has a hard time working through adversity and the different emotions that come along with that.
What is next for William:William will continue his weekly speech and occupational therapy sessions as well as frequent EEGs (electroencephalography; a method to monitor his seizures through external electrodes placed on the scalp) and visits with his local neurologist and a specialist in Dallas, TX with UT Southwestern. He sees a pediatric ophthalmologist for his vision problems and a behavioral specialist as well to help him work through his frustrations and emotions as a result of the disease process.
We are confident in the science and hard work being conducted daily to help cure William and his peers of this disease. Thank you so much for hearing our story and for supporting our strong, special kiddo, William.