The story of Audra
I was over the moon when I found out I was pregnant! I had a prior miscarriage, but luckily had a relatively normal pregnancy the second time around. John was born right before Christmas and besides some cloudiness in his right eye, was absolutely perfect. He was the best Christmas present I’ve ever received.
Although a little delayed, I thought it was due to his diagnosis of congenital corneal opacity. It wasn’t until he started having seizures, Infantile Spasms, at seven months old that I knew John had more serious medical issues. Although his first round of genetic testing displayed normal results, we continued to investigate. A WES test finally determined that John has Gould Syndrome (COL4A1 mutation) and that I am a Mosaic carrier. This mutation causes small blood-vessel brain disease, can widely vary, and is a multi-system disorder. John is on many medications and has had several surgeries in order to
attempt to combat his refractory epilepsy, which occurred from an in utero stroke. I could list all the things that John cannot do due to his rare disease, but prefer to list what he can. He lights up every room that he enters with his charisma and can make anyone cry from laughter. John is amazing, silly, sweet, and rare.