A Letter From Our Founder
A Mother's Search for Answers That Lead to the Creation of a Community
Our journey towards this diagnosis was no easy road. Scarlett was not considered "floppy" when she was first born. All her newborn tests came back negative, she was a beautiful, healthy thriving baby girl until our first week appointment. Our pediatrician noticed she had a murmur and immediately referred us to Cardiology. She had what is called Patent Ductus Arteriosus which is a persistent opening between the two major blood vessels leading from the heart. A small PDA may cause no symptoms, but a large one may cause poor eating, failure to thrive, or breathlessness. We monitored it for a few months to see if it would close and unfortunately it did not. So, at 5 months, we would give our daughter to surgeons for heart surgery--they put in a tiny titanium coil into the opening through the major artery in her thigh. We hoped at this point, after much worry, that this would be the end of any major health issues.
It wasn't until she was about 7 months when we noticed that she may be a bit behind, as she was having trouble sitting up on her own. She hated tummy time and also seemed to have drifting eyes. We were told not to worry about it as, "Children do things on their own time". After her first year check-up, our doctor was worried that she was wobbly and wasn't crawling. We then were referred to Neurology and also Early Intervention for therapy, and our journey began. CT's, MRIs, blood tests, etc., all came back normal. In EI, she was diagnosed as global development delay with hypotonia & hyperflexibility. She was fitted for SMO's and we began PT, OT, DT, and speech. She was tested for autism as well, which came back negative. I scowered and search for answers on the internet till 3am some nights every night for over a year trying to find a correlation between this symptom and the next. We just felt so lost because we had no answers, as every test was coming back normal. At this point, she was making progress but still delayed, not walking, and had two eye muscle surgeries at UW Madison to correct her strabismus which was causing depth perception issues.
At 24 months, we were referred to Genetics. After some battles with insurance coverage for the tests that they wanted and after a microarray test coming back negative , we succeeded in getting a WES. On July 27th, 2018 it was confirmed that Scarlett had a de novo mutation on GABRA1. We were scared but relieved at the same time, however we came to find out that there is no research community for this disease and her mutation was not known in literature. We were told that we would have to watch for seizures because her mutation was linked to epilepsy. We were heartbroken but hopeful that someday modern medicine or a researcher would find a cure for us.
To live your life in the unknown future for what is to come for your child medically is scary, lonely, and isolating. No child should have to live with so many challenges. Thankfully, after a 24 hour EEG done through Northwestern in Chicago, Scarlett currently does not have seizures. They could happen at any moment, without notice. Without a warning sign.
Rare mutations often don't have a voice at the table for cures. And we are looking to change that.