Niemann-Pick Type C: Background information when reading The Memory Book

Niemann-Pick Type C

This article relates to The Memory Book

A terminal diagnosis is difficult for any family to accept, but it's especially hard when the patient is a teenager. In Lara Avery's The Memory Book, Sammie McCoy is a bright and successful teen. She's going to a national debate tournament. She's her high school's valedictorian. She's going to NYU. Suddenly, though, Sammie begins to change. She has trouble remembering, and she can't control her body. Soon she is diagnosed with Niemann-Pick Type C (NPC), and her life takes an unexpectedly dark turn.

NPC (sometimes referred to less formally as "childhood Alzheimer's") is an especially cruel disease, even by terminal standards. According to the National Niemann-Pick Disease Foundation, the disease occurs when "patients are not able to metabolize cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate on the brain." The organization offers this heartbreaking statistic: "NPC is always fatal. The majority of children with NPC die before age 20 (many die before the age of 10)."

The New York Times offers a glimpse at some of the symptoms of NPC, which include "difficulty moving limbs, learning difficulties and intellectual decline (dementia), slurred, irregular speech, and seizures." It's a disease that debilitates the mind and body.

NPC is very rare; in fact, there are only around 500 diagnosed cases throughout the entire world (NNPDF). There is no definitive treatment, but there are steps being made to help the patient in the progression of the disease. While obviously rare, a couple of cases in America have received media attention.

Angie Leventis Lourgos of the Chicago Tribune recently reported on sixteen-year-old NPC patient Hayley Koujaian. Hayley was in the first grade when symptoms first appeared: "She wasn't retaining information. There was odd clumsiness, bumping into walls and desks without explanation. Most alarming, she appeared to be losing abilities she once mastered." It took until the age of eleven to receive her NPC diagnosis.

Hayley's condition rapidly worsened. At fourteen, she had the language development and mental capacity of a typical eighteen-month-old. She also had trouble swallowing, and her walking was difficult. Hayley and her family agreed to an experimental treatment with the drug cyclodextrin. Thus far, the results have been positive. She has shown steady language and cognitive growth – now approaching the development of a normal three-year-old. She's also regained some control in her walking, and her swallowing is less strained. Although the likely outcome remains dire, there is comfort to be found in science learning how to slow down the disease.

Another case involves the Parseghian family. Ara Parseghian was the popular Notre Dame football coach who led the Fighting Irish to two national championships – one in 1966 and another in 1973. His son, Mike, and Mike's wife, Cindy had four children, three of whom ended up having NPC.

Just like Hayley, the three Parseghian children (Michael, Christa, and Marcia) were normal infants. Later, they showed interests in karate, reading, and dance. The first sign of trouble appeared when Michael, the couple's oldest son, was in kindergarten. According to Parseghian.org, Michael "couldn't handle the monkey bars as well as other kids, and he was losing his balance in karate class. His handwriting wasn't as legible." At first, Michael's pediatrician noted "childhood clumsiness" as the likely culprit, but later testing revealed NPC.

Soon the symptoms grew worse, and the other siblings began to display similar traits. Michael and Crista both passed away before they turned eleven. Marcia lived until she was 16. Ara established the Ara Parseghian Medical Research Foundation to help other families fight the disease. Their foundation raises more than $2 million a year toward NPC research.

NPC is a devastating illness. Hopefully, with supporters like the Parseghian family and positive experimental trial results like Hayley's, future sufferers of the disease can have a chance at a healthier and longer life.

Filed under Medicine, Science and Tech

This "beyond the book article" relates to The Memory Book. It originally ran in August 2016 and has been updated for the May 2017 paperback edition. Go to magazine.