At 3 months old, Scarlet had her first seizure. This took us down a very long road of tests, finally resulting in genetic testing. We found that she has a de novo GABRA1 gene mutation with gain of function.

She’s been on countless epilepsy medications, and we’re still working on finding the right combo. She is currently on a trial medication called Ravicti, which is doing well for her.

We’re also dealing with her chorea (unintentional movements), which poses a large problem in daily activities.

In addition to that and her global developmental delay, she has CVI or cortical vision impairment. So we’re not sure how her brain interprets what she sees. Your guess is as good as ours!

She’s currently 3.5 years old and we are still working on sitting independently. She does not reach for anything or make much eye contact. Lots to work on in PT, OT, speech, and feeding therapy.

This is where things get exciting!

There is a gene therapy available for her!!! The drug is ready, the mice are ready!

We need funds for clinical trials! So that one day my little girl can walk, talk, run, and play. Please! If you’re able to give anything, we would deeply appreciate it!