Shannon Andersen Butalla

GFPD’s mission is to help children & families faced with a diagnosis of a Peroxisome Biogenesis Disorder - Zellweger Spectrum Disorder (PBD-ZSD) through education, research, and support services. The Global Foundation for Peroxisomal Disorders was founded in 2010 by parents of children whose children are impacted by PBD-ZSD. Leadership is comprised of an eight member Board of Directors and a nine member Medical & Scientific Advisory Board. All board members are volunteers. PBD-ZSDs are congenital (present at birth). Severe phenotype patients (Zellweger Syndrome) have consistent clinical characteristics. The exact number and combination of clinical characteristics is highly variable. In general, many of the major systems are affected, including the eye (many vision difficulties), the ear (hearing impaired), the liver (enlarged), the kidney, the cartilage, the heart (malformation of the cardiovascular system), and the muscles. GFPD is committed to supporting individuals and families impacted by the devastating effects of PBD-ZSD by providing information, educational tools, conferences, and links to medical professionals. Additionally, GFPD has medical and scientific advisors who have committed their life's work to PBD-ZSD research and providing care to affected individuals. Individuals with Peroxisomal Biogenesis Disorders can vary from mild to severe in their clinical presentation. Past documentation and medical research suggested three separate conditions, including Infantile Refsum Disease (IRD), Neonatal Adrenoleukodystrophy (NALD), and Zellweger Syndrome (ZS). The difference between these disorders is one of severity. Patients with ZS rarely survive the first year, patients with NALD can live into childhood, while patients with IRD can survive even longer; sometimes into adulthood. There are no known interventions or cures for patients with Peroxisomal Biogenesis Disorders. Funding is limited, as PBDs are considered ultra-rare disorders. Scientists estimate that a PBD affects between 1 in 50,000 to 1 in 100,000 live births. Your help is needed to provide support to these remarkable children and hope to their families. Please consider donating to The Global Foundation for Peroxisomal Disorders. GFPD is a 501c3 non-profit public charity. 1. www.thegfpd.org