Pause for PBD
Melissa Bryce Gamble shares the story of her daughter Ginny's battle with a peroxisome biogenesis disorder (PBD) and how Tulsans can help support PBD research on October 5.
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.
On the way home from Baltimore, I began communicating with some of the PBD families. Brant and I started talking about the real need for an organization to connect all of these families and to help us find a cure. When we got home from Baltimore, we had an attorney friend graciously agree to file the paperwork for us to form a nonprofit organization whose mission would be to fund and promote research on PBD and support families affected by PBD. On October 5, 2010, The Global Foundation for Peroxisomal Disorders was incorporated in the state of Oklahoma. Our initial Board of Directors included 6 other parents of children with PBD. At that time, our email list included 48 families around the world with PBD.
Since 2010, we have grown that little email list of 48 families to over 430 families in 31 countries around the world. We’ve hosted Family and Scientific Conferences to bring together PBD families and researchers. Our most recent Family and Scientific Conference was held in D.C. in July and we were honored to have the Director of the National Institutes of Health as our keynote speaker. In the last year, we’ve funded the first preclinical trial for retinal gene therapy in PBD. I’m incredibly proud of all we’ve done to advance research and support families over the last seven years.
Melissa with Francis Collins, Director of the National Institutes of Health
As we get ready to celebrate our 7th birthday on October 5th, I invite all Tulsans to join us and GFPD families around the world on our annual awareness day, Pause for PBD. Here in Tulsa, five women- owned businesses are all supporting the GFPD on October 5th by accepting donations and offering customer specials. I’m so grateful for the support of OkCookieMomster, Ediblend, The Lolly Garden, Luxe Furniture and Design and Carter Family Orthodontics. Additionally, the GFPD is hosting a reception on October 5th at 36 Degrees North from 5:00-8:00 p.m. to share our mission with the Tulsa community. For more info about what’s happening in Tulsa for Pause for PBD, check out our website at www.thegfpd.org or our Facebook event: https://www.facebook.com/events/275524026268412
When we started the GFPD, I knew that we likely wouldn’t be able to make enough progress, quickly enough to save Ginny, and that this work was probably for children that aren’t even born yet. My sweet girl fought till the very end, but passed away in April 2015. I miss her every second of every day. She still lives on though through the GFPD and every child, every family, and every researcher that we serve. There is much work still to be done, so join us on October 5th and Pause for PBD.
