Dear friend,

 

I remember being in your shoes 8 years ago.  Like me, you probably have never heard of a peroxisomal disorder or Zellweger spectrum disorder, and yet here you are on a new journey- one that is full of so many new emotions. You may have some difficult days ahead of you, but please remember that there are many of us who are walking this journey with you. The Global Foundation for Peroxisomal Disorders (GFPD) can help; you do not have to face this diagnosis alone.

 

You may have been told that your child has Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy (NALD), Infantile Refsum Disease (IRD), or Heimler syndrome.  As the understanding of peroxisomal disorders has grown, there has been a movement away from the original classifications toward using the terminology Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) or simply peroxisomal disorders to be inclusive of all phenotypes in this spectrum disease as well as the single enzyme peroxisomal defects (Acyl-coA oxidase and D Bi-Functional Protein Deficiency) that are closely related to PBD-ZSD.

 

Peroxisomal disorders are autosomal recessive disorders, meaning each parent is an unaffected carrier.  Any additional children conceived by parents who are both unaffected carriers have a 25% chance of being affected, a 50% chance of being an unaffected carrier, and a 25% chance of being unaffected and not a carrier. The incidence rate is estimated to be 1/50,000 live births. Right now, the GFPD knows of approximately 200 children living in 39 countries around the world with a peroxisomal disorder.

 

We often say that each child affected by a peroxisomal disorder “writes their own story,” as each one is unique. Even children with the same mutations are often impacted differently. Children at the severe end of the spectrum typically do not survive their first year. Children on the moderate or mild end of the spectrum may live into childhood, teen years or beyond, although most children do not live past age ten.

Hallmark symptoms of peroxisomal disorders include 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 mild end of the spectrum often learn to walk, talk, read, and develop varying degrees of independence. Some children have suffered a regression resulting in the loss of skills previously gained. Therefore, it is difficult to determine where your child may ultimately fall along the spectrum. Early intervention and ongoing therapy services such as: physical therapy, occupational therapy, speech, feeding therapy/nutrition, hearing and vision services are often necessary and prescribed for a child with a peroxisomal disorder throughout his/her lifetime.

 

While there is currently no cure for peroxisomal disorders, treatment is symptomatic. The recently published article “Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines” is available on the Scholarly Articles page of the GFPD website, along with other articles that we encourage families to read and to share. Please remember, this information is not to take the place of your child’s primary care physician and medical team.

 

8 years ago, I joined with a small group of parents to do something and turn the pain of our childrens’ diagnoses into something positive.  We wanted to make sure that no family ever had to endure the pain and isolation of a diagnosis of a peroxisomal disorder without support. Today, the GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD, organizing international family and scientific conferences, and connecting families through support services.

I am so sorry that you have a reason to find the GFPD, but I am hopeful that you will find support and love in our community.

 

With hope,

 

Melissa Bryce Gamble

Mother of Ginny, Co-Founder and Executive Director

We Provide Worldwide Support and Research to families with Peroxisomal Disorders. 

When the GFPD was incorporated and received its 501(c) (3) public charity designation in 2010, we were a small parent support group of approximately 50 families. Just six years later, the GFPD registry connects more than 400 families from 39 countries and we have a Scientific Advisory Board comprised of leading researchers and physicians in the field of peroxisomal disorders. Our biennial Family and Scientific Conferences bring together families and professionals from around the world to meet and collaborate on ways to improve the lives of patients with peroxisomal disorders.

 

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 Images on this site were contributed by families and may not be used without permission.

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