NAME: Harper
CURRENT AGE: 3
HOME TOWN & STATE: Sun Prairie, WI
DIAGNOSIS DATE: December 2020
PARENTS: Lindsay and Steve
SIBLINGS: Owen (6)
What it felt like when we learned our child has SLC6A1? There was some relief that we finally had an answer after 2 years of relentless searching. However, we then experienced extreme sadness and anxiety that there wasn’t anything we could do to treat her disease.
How did you know something was wrong? Harper was always very behind in meeting her milestones. As a baby, she was very interested in her hands and didn’t show any interest in toys or games. Her eye contact skills were great but she would often (and still does) squint her eyes when stimuli were overwhelming. She was late to sit, crawl, and walk, and still doesn’t know how to manipulate solid food in her mouth. Although she is always improving, she continues to fall further behind her peers in every category.
The hardest part of being an SLC6A1 family? The hardest aspect of all of this is the unknown! We experience a constant fear that she will start having seizures and experience a regression.
What are your dreams for Harper? I would love for Harper to live a meaningful and independent life. It would also be amazing for her speech to improve so that she is able to communicate her needs.
Why would you like people to donate to SLC6A1 Connect? Great strides have been made by scientists in terms of getting closer to both drug repurposing and gene therapy. Supporting SLC6A1 Connect would not only aid our ever-growing number of kiddos, but potentially benefit a larger population in the future.