Any parent that has received a serious diagnosis for their child remembers the moment they received “that call.” My daughter, Ginny, was born August 5, 2008, and from her birth on she had a variety of confounding medical conditions that kept us in physical, occupational and speech therapy and in the office of nearly every pediatric specialist Tulsa had to offer. May 24, 2010, was the day I learned that my sweet Ginny had a peroxisome biogenesis disorder (PBD), a rare, genetic and terminal condition. Immediately, all of Ginny’s crazy symptoms fit together and oddly, I had a sense of relief. I finally had some confirmation that I was not a crazy mom, and that there really was something that could explain all of her delays and medical issues.
Shortly after receiving this diagnosis, my husband, Brant, and I hightailed it to Baltimore with Ginny in tow to see the world-renowned specialist on peroxisomal disorders. He gave us some excellent advice: make sure Ginny has a happy life and keep her as healthy as you can for as long as you can. We asked if there was any nonprofit organization funding research on PBD or connecting families facing this devastating diagnosis. He told us there was no organization doing those things, but that he could connect us with a few families that he knew of. It amazing to hear there were other families out there fighting our same battle. Suddenly, I didn’t feel so alone.