My husband Kyle and I have two beautiful children, our 3 year old son Liam and our 16 month old daughter Natalie. Natalie has the PPP2R1A gene mutation. After excitedly discovering we were expecting our second child, our 20 week scan led to fear and falling to the floor with the unexpected news that there were abnormal findings in our daughter’s brain.
The doctor found that the ventricles in her brain measured larger than they should and we quickly became high risk. We were offered termination of the pregnancy at 24 weeks as they shared they didn’t know how severely disabled our child might be. We weren’t going to give up on her.
After her birth, we were relieved and anxious to start exploring what may be going on. As she began to fall behind in her development, and an MRI showed several other anomalies in her brain, her pediatrician and neurologist recommended early intervention services and she began physical therapy twice per week, which grew into speech twice a week as well as occupational therapy. The neurologist offered us genetic testing and after hearing the cost, we were uncertain when we would be able to pursue it.
A friend set up a GoFundMe and connected us with the company Illumina who generously enrolled Natalie in their HOPE program and covered the costs of her genetic testing. After 3 months of waiting, we discovered she had a mutation in her PPP2R1A gene. We felt a relief to finally have an answer and a community to turn to for support.