NAME: Garrett Coble Winder
CURRENT AGE: 8
HOME TOWN & STATE: Allen, TX
DIAGNOSIS DATE: August 2017
PARENTS: Alissa & Dan Winder
SIBLINGS: Benjamin (12)
What it felt like when we learned our child has SLC6A1? When genetic testing revealed Garrett had a true genetic mutation that accounted for his severe epilepsy, autism, developmental delays, and learning disabilities, it was a relief. Finally, we had an answer! Garrett had previously been given other possible diagnoses by various neurologists, but now we had a definitive answer. This feeling, however, was quickly followed by dismay, despair, and confusion as we discovered that SLC6A1 was a very rare disorder and little was known about it or how to treat it.
How did you know something was wrong? Garrett was diagnosed with developmental delays at 6 months of age and received therapy services for several years. It was not until he was 2 ½, though, that we noticed he would fall for no apparent reason. We sought help from a neurologist who diagnosed and treated his epilepsy. After a few years of increasing seizure activity (both in frequency and types) and trying different medications, we were encouraged by neurologists to do genetic testing. These new tests lead to Garrett’s SLC6A1 diagnosis at the age of 5.
The hardest part of being an SLC6A1 family? Anxiety over Garrett’s future is by far the most difficult aspect to handle. Garrett requires minute-to-minute care to avoid injury, and his days are very unpredictable regarding the severity of his seizures. One day he may have as few as 5 minor absent seizures, and the next he could experience 10 convulsive seizures. On another day, he may experience status epilepticus, which is a constant non-convulsive state of low level seizure. It is also difficult to witness his older brother’s desire to play with Garrett and have a normal sibling relationship, but instead be concerned with seizure activity, falling, and general safety.
What are your dreams for Garrett? Our family’s dream is that Garrett will successfully receive gene replacement therapy so we can solve his urgent medical needs, which would allow us to begin work on developmental and behavioral issues. Our dream is that he will have a future of independent living, with the ability to fully care for himself.
Why would you like people to donate to SLC6A1 Connect? Fully funded research can lead to a cure…and hope for lasting, effective treatment. Not just for Garrett, but for the many other children born each year with a similar diagnosis. We are eternally grateful for each donation!