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The Global Foundation for Peroxisomal Disorders (GFPD)

Greetings from The Global Foundation for Peroxisomal Disorders (GFPD). The GFPD is a 501(c)(3) non-profit public charity committed to helping children and families faced with a diagnosis of Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder (PBD-ZSD)- and assisting family members and professionals through educational programs, research, and support services.

PBD-ZSD  is a rare, genetic, metabolic, terminal condition affecting all major systems of the body and includes a wide range of phenotypes that were formerly classified into 3 groups: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease. As the understanding of this spectrum of disorders has grown, there has been a movement away from the original classifications and now a wider acceptance of the terminology Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder (PBD-ZSD).

Children with PBD-ZSD commonly experience sensorineural hearing loss, vision loss, hypotonia, seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency.  Children who are at the most severe end of the spectrum typically meet very few developmental milestones. Children at the most mild end of the spectrum often learn to walk, talk, and a few can even read. Some children have suffered a regression resulting in the loss of skills previously gained. Therefore, it is difficult to determine where a child may ultimately fall along the spectrum.

 Please share our website www.thegfpd.org with any families that you know of who have been diagnosed with PBD-ZSD. We have a very active online support group as well as numerous resources available on our website for families. It is our desire that no family face this devastating diagnosis alone.

Please feel free to contact us should you have any questions or need further information.

Pamela Marshall 

Registry and Support Group Coordinator, GFPD

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