Zellweger syndrome: A rare and severe genetic disorder 

Zellweger syndrome is a spectrum disorder. This condition is hereditary in nature and can be passed from parents to children.

Like other genetic disorders, it disturbs cellular function and causes serious and complex problems soon after birth. As you can imagine, this condition poses concerns for parents and also prepares them for the worst from the very beginning.

A few detectable signs are that newborns can have brain, liver and kidney problems. They may also have difficulty feeding or moving. There's no cure or treatment for this syndrome. Infants with the disease usually don’t live past six months.

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What is Zellweger syndrome?

Zellweger syndrome does not have a cure. (Image via Getty/Getty)

Zellweger syndrome is extremely rare and only occurs in 1 in 50,000 births. It affects the peroxisomes, parts of cells that are essential for many body functions, so disruptions in them can cause developmental delays.

Peroxisomes have enzymes that go to multiple different key pathways. Enzymes create two important pathways. The first is the metabolism of fatty acid and the second is synthesis of essential lipids. Researchers consider that these are the two main routes essential for nervous system development.

As it has a direct link to the nervous system, low levels of peroxisomes can cause difficulties with vision and hearing. It can also have more complex symptoms like seizures, delayed milestones, liver and kidney dysfunction, low muscle tone and difficulty feeding by mouth.

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Zellweger syndrome symptoms

Children require more assistance and help than what they get. (Image via Getty)

Some common symptoms of this condition start showing early, right after child' birth. They can vary in how severely they impact the child but typically include:

• Weak muscles that can lead to difficulties in controlling muscle.
• As the neuronal activity is disturbed, it can lead to recurrent seizures.
• The first signs can often seen as deformities in the face like a high forehead, large soft spot and a flattened midface.
• One of the prominent failures associated with this condition is associated with the liver. A child's liver is likely to fail as Zellweger syndrome progresses.
• Even in the first six months of the child's life, there are remarkable cognitive and developmental delays. They may subsequently display slower physical growth and development.
• Like most of the major systems, a child's respiratory system may also not develop completely leading to difficulties in breathing.

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Zellweger syndrome life expectancy

It's a spectrum disorder, making treatment quite complex. (Image via Getty)

Unfortunately, the prognosis for Zellweger syndrome is very poor. There are very minimal resources because of the rare nature of the disease.

It's important to note that any disorder or illness is associated with emotional, financial and medical challenges. The prognosis for individuals with this syndrome is poor due to how the disease progresses with time.

The symptoms can exacerbate over time, making it difficult for the child to survive. Overall, a combination of neurological, physiology-related and other issues make it difficult to manage the condition. Some advancements in medical care and treatments can provide relief.

Have you heard of genetic counseling? It helps families identify risk factors and analyze family history. That can help the family members help identify children at risk, ones already with the condition and likelihood of other children being diagnosed with it.

It can be overwhelming if your child gets diagnosed with this condition. Getting in touch with healthcare professionals can help you get familiar with the situation. Most importantly, it helps you prepare for any upcoming challenges. It will also help you remain updated on research that could help your child and family.

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By spreading awareness and support, you support not only the children but also their parent. These children deserve a cure and freedom from Zellweger syndrome. Just a reminder that as a parent, you're not alone in this journey.

There can be many times when it feels isolating. You may have late nights with your child, navigating the medical system, trying to communicate with physicians about your child's needs. Even though Zellweger syndrome is a rare condition, we are moving towards understanding it more.

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Janvi Kapur is a counselor with a Master's degree in applied psychology with a specialization in clinical psychology.

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