NAME: Katrina “Kat” Marie


HOME TOWN & STATE: Scotts Valley, CA

DIAGNOSIS DATE: November 2020

PARENTS: Kevin and Sandra

SIBLINGS: Conor and Kelly 

What it felt like when we learned our child has SLC6A1? We felt relief and excitement; for 11 years we struggled with our daughter’s “autism”.  We tried special diets, treated her for immune system issues, and paid for years of ABA, OT, and speech therapy.  Every day we struggled with her developmental delays and her challenging behavior.  A few years ago, we discovered she was having absence seizures, which led us down to the path to genetic testing.  We now have an answer as to why she is having seizures and delays and we have hope that one day there will be a treatment or cure.

The hardest part of being an SLC6A1 family? The “most difficult” part is actually two-fold. First, it’s knowing that there is nothing I can do to stop or repair the damage inside of Katrina’s brain. The second is dealing with the intense behavior that my daughter has experienced because of SLC6A1, how it has affected our immediate family, and how our lives have been limited because of it.

What are your dreams for Katrina? I want Katrina to be able to communicate better. She currently has severe speech apraxia and can only make one-word approximations, which leads to much of her challenging behavior. I also hope that she will develop a curiosity about the world around her. That someday she can ditch her crucial medications and feel happy, healthy, and at peace. Ultimately, I hope she can recover from this and experience some independence.

Why would you like people to donate to SLC6A1 Connect? All SLC6A1 children are beautiful, young, and bright and deserve a chance to live their lives without constant seizures and developmental delays. I suspect many more kids will be diagnosed with this issue (or one similar) in the coming year. These kids do not have 10+ years to wait for help because the effects of SLC6A1 continue to debilitate over time. The treatments we find for SLC6A1 will be a cutting edge step forward to treat the underlying issues of autism and epilepsy.  

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