Niemann-Pick disease is a rare genetic disorder that renders the body incapable of transporting cholesterol and other lipids inside of cells. The result is a build-up of these fatty substances in various areas of the body, including the brain.
There are four variations of Niemann-Pick disease, each with their own symptoms, onset, and life expectancy. Sadly, Nieman-Pick disease is often fatal. Treatment centers around managing the condition, and extending life expectancy. There is presently no cure.
Keep reading to learn more about Niemann-Pick disease, including the causes, diagnosis, and outlook for the condition.
What is Niemann-Pick disease?
Those with Niemann-Pick may be categorized into A, B, C (NPC1 or NPC2), or E variations of the disease, all of which manifest differently with unique symptoms. While Type A and B sufferers tend to develop symptoms early in life, those with Type C may be afflicted at any time if their genetic make-up is conducive to the disease. Type E suff
OMAHA, Nebraska (KETV) An Omaha mother feels like she reliving a nightmare. She and her husband recently learned their son’s lifesaving medication is being taken away.
KETV Newswatch 7 first met the family in 2018 shortly after Osama Hamad was diagnosed with a fatal genetic disease called Niemann-Pick Type C.
The disease is often referred to as childhood Alzheimer’s because the body essentially forgets how to function.
“You forget how to walk, talk, and eventually breathe,” Osama’s mother, DeAnna, said.
But a year later, when we caught up with the family again, they had hope because an experimental medication Osama was taking seemed to be delaying his symptoms.
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