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SSA Compassionate Allowances: Alpers disease

On our blog, as some of our more regular readers know, we like to dedicate posts to conditions found on the Social Security Administration's Compassionate Allowances list. We write these posts so as to call attention to these conditions, specifically what people living with these conditions have to go through. By seeing what they have to go through, you can then start to understand why it may be so important for them to gain access to federal benefits like SSDI and SSI.

In today's post, we will be looking at Alpers disease, which is a progressive, neurodevelopmental disease caused by a mutation in a specific gene. First discovered by a German neurologist by the name of Alfons Maria Jakob, explains a transcript found on Prezi, Alpers disease typically does not present symptoms upon birth but instead begins to present symptoms a few years later. According to the Social Security Administration, "about 80 percent of children [...] develop symptoms in the first two years of life."

Unfortunately, there is not a specific set of symptoms that indicates a person has Alpers disease. First signs of the disease may include:

  • Hypoglycemia
  • Infection-associated encephalopathy
  • Seizures
  • Failure to thrive
  • Increased muscle tone or abnormal movements
  • Gastrointestinal dysfunction
  • Liver failure
  • Cardiomyopathy
  • Cortical blindness (in about 25 percent of cases)
  • Dementia

Because Alpers disease is considered difficult to diagnose, explains the National Organization for Rare Disorders, it's unknown how frequently the disease crops up in human populations. It's estimated that fewer than one in 200,000 people has Alpers disease.

If a patient is lucky enough to receive a diagnosis, it will be a bittersweet one. That's because, while a diagnosis does give them access to Social Security benefits, those who receive a diagnosis typically die 10 years later from unremitting seizures, liver failure or cardiorespiratory failure.

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