Monday, February 25, 2013

Time=Lives Story of the Week: The Hempel Family

“When we realized our kids had a fatal cholesterol disorder we turned to some of the foundations and the researchers to figure out what is the therapy pipeline. What we realized was that that therapy pipeline really wasn’t built.” - Chris Hempel, mother of Addi and Cassi

At age three, identical twins Addi and Cassi (Addison and Cassidy) Hempel were diagnosed with an ultra-rare and fatal cholesterol disease that affects only 500 people worldwide – Niemann Pick Type C – a condition frequently referred to as “Childhood Alzheimer’s.” 

Their parents, Chris and Hugh, noticed a drastic change in their girls and immediately started taking the necessary steps to find a cure. By becoming experts in the disease, advocating for treatment options, and not taking no for an answer, the Hempels have made medical progress happen.


In April of 2009, after months of work by Chris and Hugh to set up a “virtual biotech” in their home, the U.S. Food and Drug Administration (FDA) granted special permission to allow the girl’s doctor to give them intravenous infusions of 2-hydroxypropyl-β-cyclodextrin, a non-toxic sugar compound. In October 2011, the FDA granted permission to allow intratehcal injections of cyclodextrin into their spines to enable the compound to reach their brains. 

Now the family is working on a permanent solution to treat the girls, now 7. Their story is chronicled in the new documentary Here.Us.Now, a film commissioned by the Ewing Marion Kauffman Foundation.

February 25 – March 1, 2013 is Rare Disease Week, where advocates for illnesses such as Niemann Pick Type C (which affects approximately 250 to 500 people in the US) come together to bring widespread recognition of rare diseases as a global health challenge. In the U.S., any disease affecting fewer than 200,000 people is considered rare. There are nearly 7,000 rare diseases affecting nearly 30 million Americans, which means almost one in ten Americans are suffering from rare diseases.

We’re looking forward to seeing Hear. Us. Now. at RDLA’s 3rdAnnual Rare Disease Cocktail Reception & Movie Screening this evening.  Following the movie, our own Margaret Anderson will be leading a panel discussion with Dr. Christopher Austin, Director of the National Center for Advancing Translational Sciences at the National Institutes of Health; Dr. Emil Kakkis, MD, PhD, President of the EveryLife Foundation for Rare Diseases; Marc Boutin, Executive Vice President & Chief Operating Officer,  National HealthCouncil; and Chris & Hugh Hempel.

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