Thank you for visiting my fundraising page! This year, I will join 103 of my colleagues in the effort to Run for Rare Diseases. This support team has been in place for the past 8 years, and in the past the team has run the Boston Marathon. This year it has been expanded to run other races, and especially gratifying for me as a Rhode Islander, it includes the Providence Marathon and Half Marathon!
I'm elated to join my team mates and my patient partner, Madi, on May 3rd to run the Providence half marathon to raise money for the National Organization for Rare Disorders (NORD), a non-profit organization that advocates and encourages research and development of new treatments for rare diseases.
The definition of a rare disease varies slightly around the world, but in the U.S. a disease is considered rare if it is believed to affect fewer than 200,000 people. There are approximately 6,800 such diseases, and while each disease is rare, when considered together they affect nearly 30 million Americans or almost 1 in 10 people. There are certain challenges that all patients (and often children) and families affected by rare diseases share. Given the rarity of these disorders many patients go undiagnosed for years and are deprived of life saving treatments.
My patient partner, Madi, is a positive, energetic, and very mature 17-year-old girl who happens to have Mucolipidosis II/III (ML II/III). MLs are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because the cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe mental retardation and skeletal deformities. Importantly, ZERO cures or specific therapies for ML currently exist. Therapies are generally geared toward treating symptoms and providing supportive care to the child.
Despite Madi's disease and its effect on her (and her family's) day to day life, she doesn't let this stand in her way by any stretch. Madi loves horseback riding, and has even kept her own horse (April) since she was a young girl. She also loves knitting, reading and writing, is a self proclaimed 'history buff', and is a 2nd mother to her 4-year-old brother, Brady. On top of her school studies, she has a job at a nonprofit organization, Colorado 9to25, which is a collective, action-oriented group of Colorado youth and adults working in partnership to align efforts and achieve positive outcomes for all youth, ages 9-25, so they can reach their full potential. Madi and her family's tenacity for living life and giving back to the community is inspirational.
More information on ML is available here: http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm
More information on Colorado 9to25 is available here: http://co9to25.org/
Donations to NORD will specifically benefit a fund created to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions. The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program.
To learn more about the team and our mission, follow our blog, like us on Facebook, and follow us on Twitteror watch/share our Boston Marathon and Rare Disease Day Relay videos.
I have personally committed to raise $500 but my goal is to raise more for NORD. Donating through this website is simple, fast and totally secure. It is also the most efficient way to support my fundraising efforts.
Huge thanks for your support. Everything counts. Don't forget to forward this to anyone who you think might want to donate too!