Zellweger Syndrome
What is Zellweger Syndrome?
Zellweger Spectrum Disorders (ZSD) are also referred to as Peroxisomal Biogeneis Disorders (PBD) which include: Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy (NALD) and Infantile Refsum Disease (IRD).
ZSD/PBDs are rare, genetic, metabolic, terminal conditions affecting all major systems of the body. Children with ZSD/PBDs commonly experience sensorineural hearing loss, vision loss, hypotonia (low muscle tone), seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency.
ZSD/PBDs are rare, genetic, metabolic, terminal conditions affecting all major systems of the body. Children with ZSD/PBDs commonly experience sensorineural hearing loss, vision loss, hypotonia (low muscle tone), seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency.
Last updated 18 Jul 2018, 01:14 AM
18 Jul 2018, 01:14 AM
Advocating for your child with ZSD - or with any rare disease, for that matter - can feel like a full-time job. These resources from understandingzsd.com might make it just a little easier.
Last updated 15 Feb 2012, 06:14 PM
15 Feb 2012, 06:14 PM
Do you want to connect with other parents who understand ZSD/PBDs? The Global Foundation for Peroxisomal Disorders has an active family support group which includes families impacted by the Zellweger Spectrum disorders - Zellweger Syndrome, NALD, and IRD. To find out more abou the GFPD and/or the family support group, please visit www.thegfpd.org. Pamela Marshall mom to Ethan, 18 months - PBD GFPD Family Registry & Support Group Coordinator
| Title | Description | Date | Link |
|---|---|---|---|
| The Global Foundation for Peroxisomal Disorders |
The mission of The Global Foundation for Peroxisomal Disorders is to help children and families faced with a diagnosis of a Peroxisomal Biogenesis Disorder (in the Zellweger Spectrum of Disorders) and to assist family members and professionals through educational programs, research, and support services.
|
03/20/2017 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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Understanding ZSD
Created by RareshareTeam | Last updated 18 Jul 2018, 01:14 AM
Connecting with other parents
Created by jpemarshall | Last updated 15 Feb 2012, 06:14 PM
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