One family has just gotten the kind of news every parent dreads, reports the Stir: Their 18-month-old daughter has an extremely rare, incurable, and fatal genetic disorder called Niemann Pick Type C, which is often referred to as childhood Alzheimer's. But there's a new drug currently in clinical trial that has extended the lives of mice with the disorder five-fold, and the McGlocklins are in a race against time to get their daughter Marian into the program and hope that the science progresses faster than the disorder. "Eventually the muscles get stiff and the patients are unable to walk," an expert at UCLA tells ABC7. "Speech becomes extremely difficult and eventually they do die from their condition."
When Marian was born, her parents noticed she had very skinny legs and muscle weakness. After performing a battery of tests, her doctors learned that her cells can neither process nor dispose of cholesterol, leading to a toxic buildup in her body that looks much like dementia. Only 500 children have ever been diagnosed with it, and many of them die before their 10th birthday, per the National Niemann-Pick Disease Foundation. Marian's parents are more than a third of the way to their $150,000 goal on GoFundMe, which they will direct toward research. They believe scientists are closing in on a cure, and say Marian will be either one of the last to die from or one of the first to survive the disease. (The same disorder has made this teen operate at the level of a toddler.)
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