Dear GFPD Family,
Thank you for reaching out to the Global Foundation for Peroxisomal Disorders (GFPD). We know how overwhelming it can be to receive a diagnosis of a peroxisomal disorder and we are glad you found us. Since 2010, the GFPD has been a beacon of hope and support for those impacted by peroxisomal disorders. As a 501(c)(3) non-profit public charity, we are committed to improving the lives of individuals with peroxisomal disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.
Please know that you are not alone.
We currently connect and provide support for more than 700 families from over 40 countries with the following types of Peroxisomal Disorders: Zellweger Spectrum Disorder (ZSD); D-Bifunctional Protein Deficiency (DBPD); Acyl-CoA Oxidase Deficiency (ACOX); and Alpha-Methylacyl-CoA Racemase (AMACR) Deficiency. Additionally, the GFPD hosts the GFPD Patient Registry for Peroxisomal Disorders, which includes all types of peroxisomal disorders.
Whether you were recently diagnosed, have been diagnosed for years, or are a bereaved family, we are here to support you. Our global community of families has an array of experiences creating an invaluable source of support for one another. You have likely already experienced some difficult days and may have several more ahead of you, but please remember that there are many of us who understand and are here to walk alongside you or even simply sit with you.
Our support extends to individuals with peroxisomal disorders, parents, siblings, grandparents, and other extended family members, both bereaved and not bereaved. You do not have to face this diagnosis alone; The GFPD is here to support you.
The diagnosis terminology alone can be challenging, and it may seem that there is a whole new language and acronyms to learn. You may have been told that you or your loved one has Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy (NALD), Infantile Refsum Disease (IRD), or Heimler syndrome. The understanding of peroxisomal disorders has grown, resulting in a movement away from the use of how these were historically described. It is now recommended to replace these names with the overall classification of this spectrum by using the terminology Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD or ZSD). You may also see us simply use peroxisomal disorders to be inclusive of all phenotypes the GFPD supports. You can learn more about terminology here.
Peroxisomal disorders are rare, genetic, multi-symptom, multi-system diseases. Symptoms of peroxisomal disorders can vary significantly and change throughout an individual’s life. We often say that an individual who has a peroxisomal disorder “writes their own story,” as each person’s experience is unique. Even individuals with the same variants (mutations), such as siblings who have this rare disease, can be impacted differently throughout their lives.
Some of the symptoms experienced include, but are not limited to, hearing loss, vision loss, hypotonia, seizures, developmental delays, liver and kidney dysfunction, problems with bone formation, and nutritional deficiencies. In recent years, more and more people have been diagnosed before they display many symptoms due to increased awareness and accessibility to testing, particularly newborn screenings. As a result, healthcare providers are better equipped for early intervention, to provide symptomatic treatments, and to proactively determine what needs to be monitored.
At the most severe end of the PBD-ZSD spectrum, individuals do not meet any developmental milestones and die during infancy, whereas others may be moderately impacted, learning to walk, talk, read, and gain varying degrees of independence, and others on the milder end of the spectrum may not have any intellectual disabilities and fewer symptoms, such as hearing and vision loss. It is worth noting that at the 2024 EL PFDD Meeting for Peroxisomal Disorders, it was found that vision loss is often ranked as the most impactful symptom in peroxisomal disorders.
It can be difficult to predict and/or determine where an individual may ultimately fall along the spectrum of PBD-ZSD. We recognize how extremely frustrating and devastating it can be to experience the unknowns and unpredictability of this rare disease.
It is often necessary and prescribed to provide ongoing therapy services for individuals with a peroxisomal disorder throughout their lifetime. These services include physical therapy, occupational therapy, speech therapy, feeding therapy/nutrition, orientation and mobility, and hearing and vision services.
While there is currently no cure for peroxisomal disorders, there are symptomatic treatments. You can learn more about these in the published article “Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.” Additional Scholarly Articles we encourage families to read and share can also be found on the GFPD website. This information is not meant to replace your medical team, but to be a resource you and your care team can use.
You can also watch the GFPD Webinar, Symptom Prevalence and Management for Peroxisomal Disorders to learn this important information from GFPD Medical and Scientific Advisors Dr. Michael Wangler and Dr. Mousumi Bose.
On our website, YouTube channel, and social media channels you will find more information about the GFPD and the various ways we support our global community of families and professionals through family support programming, advocacy, and research.
Although we are sorry you have a reason to find the GFPD, we hope you will find support and community here. Please email contactus@thegfpd.org or katie@thegfpd.org to begin receiving support as you navigate through this diagnosis. Our team is looking forward to getting to know you and your family.
Regards,
Katie Sacra
Director of Family Programs
Global Foundation for Peroxisomal Disorders
Email: katie@thegfpd.org