Our Story
Harper was born on May 3rd, 2018 after an uncomplicated labor and delivery. She was a happy and smiley baby with a big personality. She was the perfect addition to our family. Unfortunately, we started realizing that something was wrong when she wasn't meeting any of her milestones starting at around 5 months of age. She had no interest in toys and had an odd fascination with her hands. She was way behind in rolling over, sitting up, standing, walking, eating, etc. People would often say "babies develop on their own time," to try to reassure us but it was obvious that there was more to it as she continued to fall further and further behind. Many tests were done but everything kept coming back normal. We finally received her diagnosis in November, 2019 of SLC6A1 after doing whole exome sequencing. 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. We were given the name of the Facebook parent support group page and were sent on our way. We feel fortunate to have an online network of parents who are going through similar experiences as we are.
Getting diagnosed with a rare disease comes with a big range of emotions. First, we were upset. It's always difficult to hear that your child has a life long condition and there isn't an easy way to fix it. There was also some relief. We weren't crazy! There was actually a reason for Harper's developmental delay. Frustration has been a recent emotion. Not even the healthcare professionals that we rely on for answers know how to treat her.
What does a typical week look like for Harper? She goes to full day ABA therapy twice/week and a private 4K program three days/week. At school, she receives special education services, speech, OT, and PT. She also enjoys her private swim lessons and ballet lessons! She is overall a very happy child but can have big emotions. Like anyone, she has good days and tough days. Her biggest challenge is being unable to communicate.
Amber Freed, the founder of SLC6A1 Connect, has a son, Maxwell, who is also diagnosed with this disease. She quit her job and made it her life mission to find a cure. With the medical and scientific team that Amber has assembled, the hope is that we will get to receive gene therapy and cure the disease. We are currently a part of a clinical trial that involves drug repurposing. Being on this drug (Ravicti) has made Harper seizure free and we are so thankful that we had this opportunity to be included. We continue to hold hope that someday, there will be a treatment or better yet a cure for Harper so that she can live a fulfilling, happy, and "normal" life.