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Rare Diseases: The Dangers Of NPC

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A few years ago, FitPerez contributor Amy Malin of Trueheart Events became aware of a major healthcare issue that affects 30 million Americans (10% of U.S. population, 50% of which are children) and 350 million people worldwide. That’s more than all cancers and AIDS combined. The healthcare issue is “rare disease." There are over 7,000 different types of rare diseases. Fewer than 5 percent of rare diseases have a single approved drug treatment, leaving tens of millions of people without hope.

Amy sat down with Chris Hempel, the mother of 8 year old twin cuties Addi & Cassi who have the rare disease Niemann Pick Type C, for an exclusive interview and learned about the disease that Chris' brave little girls are battling.

Daughter Addi was born one minute before her twin sister Cassi and both girls love the color pink, eating Fruitloops cereal and riding their bikes. Their favorite TV show is The Backyardigans and their favorite movie is Tinkerbell, but what makes these two adorable girls different then most 8 year olds, is the incredibly rare disease they have. Chris and Hugh are a Mom and Dad on a mission to save their beautiful girls and in spite of the very difficult circumstances their family are faced with, they remain hopeful and resilient.

Here's the interview:

Amy: What exactly is Niemann Pick Type C disease and why should people care about this ultra rare disease that only affects 500 people worldwide?

Chris: Niemann Pick Type C (NPC) is a rare and progressive brain destroying cholesterol disease also known as “childhood Alzheimer’s.” Eight year old identical twins, Addi and Cassi, were born perfectly healthy but have no way to rid their body of cholesterol because their NPC genes in their little bodies that regulate this function are broken. Cholesterol gets stuck inside all their cells, organs and ultimate is destroying their brains.

People should care about this gene because every person in the world is born with it. NPC is the key gene that controls cholesterol in the body and we all know how many millions of people have cholesterol problems. What scientists learn about children like Addi and Cassi children may have implications that reach far beyond this ultra rare genetic cholesterol disease. Recent published research reports of the role for the NPC gene in Alzheimer’s disease and viruses like HIV, making NPC disease and gene research relevant to millions of people worldwide.

Amy: We understand you have found a potential drug called cyclodextrin that may be able to save your twins’ lives? How did you find it?

Chris: When Addi and Cassi were diagnosed with NPC, I decided wasn’t going to spend years watching my beautiful girls wither away before my eyes. I started contacting researchers, searched medical Web sites and learned everything I could about cholesterol and the Niemann Pick Type C gene. In my search, I found a scientific paper that mentioned a non-toxic compound called cyclodextrin that can extract cholesterol from cells. Research in NPC afflicted animals was showing promise.

I learned that millions of people worldwide are exposed to small amounts of cyclodextrin compounds every day in food, cosmetics and household products. In fact, cyclodextrin is the active ingredient found in Procter & Gamble’s Febreze® Fabric Refresher and is used to help eliminate odors from fabrics.

With the help of an amazing doctor at Children’s Hospital Oakland, we approached the FDA about allowing us to try cyclodextrin on the twins. First we started with infusions of the compound into their bloodstream and for the past 2 years have been putting the compound into their brains. The treatments seem to have helped the twins.

It’s amazing to think that a compound found in my refrigerator and laundry room could have such a profound effect on human cholesterol metabolism and may actually save our daughters lives.

Amy: How can people help?

Chris: People can help by getting educated about rare and genetic diseases, not just Niemann Pick Type C. There are 7,000 different rare diseases that impact over 30 million Americans. That’s 1 in 10 people! We’re asking that people wear the denim blue Genes Ribbon to show their support for kids like Addi and Cassi. Get involved by liking the Global Genes Project Facebook page.

Fore more information on children's rare diseases visit Global Genes Project on Facebook HERE and on Twitter @GlobalGenes

Make sure to follow and tweet Amy at @TrueheartEvents — And if U wanna know more about NPC OR anything else, U can always email us at Questions@FitPerez.com!!

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