Why Zellweger Syndrome is a Parent’s Worst Nightmare

It’s not a happy story.

Little Riley Brown beat the odds and celebrated his first birthday last April. Two months later, he passed away from the rare congenital disorder called Zellweger syndrome. His devoted parents, Peter and Ashleigh, knew from the start that his life would be brief, but instead of grieving while Riley was still alive, they made his life as sweet as possible, despite his dozens of daily seizures.

So, what is Zellweger syndrome?

Zellweger is caused by the breakdown of myelin, the covering that protects nerves and enables the efficient transmission of nerve impulses. At its most severe, children, like Riley, rarely survive their first year. They suffer from poor muscle tone, vision loss, hearing impairment, and seizures. Facial abnormalities, including a flattened face and high forehead, are common because of large spaces between the bones in the skull.

At the less severe end of the Zellweger syndrome, the onset of symptoms begin to present themselves in late infancy or early childhood. Apart from experiencing hearing deficiencies and vision loss, these people may reach adulthood. Many of those affected suffer from some degree of intellectual disability and/or developmental delays.

Zellweger syndrome is estimated to occur in 1 in 50,000 births, and there is no cure or treatments.

Parents are urged to get genetic counseling if they are concerned about conceiving a child with this heartbreaking disease.

For Peter and Ashleigh Brown, however, this information comes too late. However, they are grateful for the time they had with little Riley and are comforted by the fact that, although short, his life was meaningful.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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