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Rare conditions of Compassionate Allowance: Zellweger syndrome

As some of our more frequent blog readers may have noticed, each month we have been highlighting a different condition that can be found on the Social Security Administration's list of Compassionate Allowances.

As we explained in the first post of our series, some rare conditions may go without diagnosis if a physician is unaware of its existence. This failure to diagnose can be problematic for those applying for disability benefits because a proper diagnosis helps to show the need for benefits.

By drawing attention to some of these rare conditions, we hope we can give our readers the information they need to help their doctor provide them with the right diagnosis to put them on their way to the benefits they deserve. Let's take a look at one of these conditions today.

The condition we wanted to emphasize this month is Zellweger syndrome, which is a hereditary disorder caused by mutations in the PEX1 gene.

According to the U.S. National Library of Medicine, this incredibly rare condition only affects one in 50,000 individuals. It causes a wide range of disabling symptoms including but not limited to: glaucoma retinal degeneration, hearing impairments, poor muscle tone, an enlarged liver, and gastrointestinal bleeding.

Because the onset of Zellweger syndrome starts during prenatal development, by the time an infant is born, he or she may be experiencing any number of the debilitating symptoms above. Sadly, there is no cure for Zellweger syndrome nor is there a standard course of treatment. Children hardly survive past six months, typically dying from liver failure, respiratory distress or gastrointestinal bleeding.

Although there are treatments that can provide some relief from the symptoms of the disorder, treatments such as medication and surgical procedures can be incredibly expensive, leaving families with mounting medical bills. Thankfully, because Zellweger syndrome is listed as a Compassionate Allowance, families can apply for benefits on behalf of their child, using the funds to help provide their child with the medical attention they will need.

Sources: The Social Security Administration, "DI 23022.535 Zellweger Syndrome," Accessed Oct. 20, 2014

The National Institute of Neurological Disorders and Stroke, "NINDS Zellweger Syndrome Information Page," Accessed Oct. 20, 2014

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