BENEFITING: National Niemann-Pick Disease Foundation
EVENT DATE: Nov 07, 2015
Ironman Florida Fundraiser for Ultra-rare Niemann-Pick Disease Type B
Update: On Nov 7, 2015 I completed my first full 140.6 mile Ironman in 16 hours and 6 minutes fueled by the energy of the Niemann-Pick community! With your help, I am meeting my goal to raise funds and bring awareness to Niemann-Pick Disease (NPD), which affects an estimated 1,200 people worldwide with Types A and B and another 500 people with Type C.
NPD Type B is a deficiency of the ASM enzyme. NPD is a rare, genetic, degenerative, life-threatening, metabolic, lysosomal storage disease. The three most commonly recognized forms of NPD are Types A, B and C. NPD Types A and C cause severe neurological degeneration and children with Type A have no ASM enzyme and do not usually survive past toddlerhood. Children with Type C have a slower disease progression than Type A and experience years without the ability to walk, talk, control their body movements, or swallow food before losing their battle against NPD. There is also an adult-onset Type C with the same progression occurring later in life. Type B is the most variable of these diseases and children might survive to adulthood but are at risk for failure of the spleen, liver, heart or lungs along with the pain of osteoporosis.
Clinical trials are in progress that are rays of hope for the future!
In 2007, the first clinical trial for NPD-B started and patients received a single dose of a lab created ASM enzyme at Mt. Sinai School of Medicine in New York City. Although planned to start in 2010, it was 2013 before the next 6 month study began and patients received the enzyme via IV infusion every two weeks. This type of treatment is knows as enzyme replacement therapy or ERT. In 2014, a 5 year extension follow-on ERT study began. These clinical trials were such a success that the FDA granted breakthrough designation and a pediatric ERT study has started. Details on the various studies, including clinical trials for Type C are available at the National NPD Foundation site: http://www.nnpdf.org/npresearch_11.html
NPD is ultra-rare which makes publicity and fundraising for it very difficult. Many doctors are unaware of the disease and patients often are misdiagnosed and undergo inappropriate and ineffective treatments. Researchers are studying new treatments and clinical trials are in progress for NPD so fundraising and awareness is critical. Any amount you can spare will be greatly appreciated to support those courageously fighting this disease! If you prefer to mail in a donation, please send contributions to:
P.O. Box 310
Fort Atkinson, WI 53538
Make checks payable to: National Niemann-Pick Disease Foundation