By Jim Gratton / Herald Forum
Every Oct. 5 our family observes “Pause for the GFPD,” an annual awareness day for the Global Foundation for Peroxisomal Disorders.
I’m betting that most Herald readers have no idea what peroxisomes are, let alone a peroxisomal disorder. Peroxisomes are in every cell in our body. They are the worker bees of our cells and contain enzymes involved in a variety of metabolic reactions, including several aspects of energy metabolism. The disorders are rare, genetic conditions affecting multiple organ systems in the body and are generally fatal in childhood.
Our son, Skyler, is an exception. He is 32 years old and is one of fewer than 1,000 living worldwide with a peroxisomal biogenesis disorder. At age 7, he was diagnosed with Infantile Refsum Disease, one of those disorders, usually fatal by adulthood. His symptoms have included severe hearing loss, vision loss from retinitis pigmentosa, tremors in both hands, developmental delays and dental issues — all his permanent teeth came in without enamel, forcing a multi-year capping. Still, we are the lucky ones.
Pause for The GFPD is a day that brings our family hope. The GFPD is a 501(c)(3) nonprofit public charity founded in Tulsa, Okla., in 2010 to support families affected by peroxisomal disorders and to directly fund medical research. We attended the GFPD biennial conference in May this year and were astounded at the advances the scientific community is making. The future, as one researcher put it, is gene therapy. That won’t be easy, neither the research nor securing the funding to make it happen.
This Oct. 5, we are celebrated all that the GFPD has accomplished in 14 years moving toward a cure for peroxisomal disorders. We also celebrate the beautiful children affected by these rare, terminal conditions and invite you to help us help the GFPD – and the global community of patients, families, caregivers, scientists, and medical professionals – raise awareness about the need for treatments and cures for these rare, genetic diseases.
Visit the GFPD website: www.thegfpd.org or find it on Facebook or Instagram to learn about ways you can help make a difference and about the groundbreaking work the GFPD is doing around the world.
We invite the Everett Herald readership to join families affected by peroxisomal disorders in more than 40 countries around the world.
Jim Gratton and family live in Bothell.
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