Anne OConnor-Smith's Page
Did you know 1 in 10 people have a rare disease and it is not always obvious? Alone we are rare and together we are strong! 2 in my family have a disease affecting 1,200 people worldwide and 1 has a 1 in a million disease. We are so thankful to have our diagnosis so we can fight for our lives and we want that opportunity for others! My goal is to raise $1,000 for NORD.
I am running the Providence Marathon with my clinical trial doctor to raise awareness and funds for rare diseases. All funds raised by the Running For Rare Diseases team will support the Genzyme/NORD NIH Undiagnosed Diseases Program (UDP). The NIH UDP is the primary national resource for patients and their physicians who have exhausted other alternatives in seeking a diagnosis. Those accepted into the program go to the NIH Clinical Center in Bethesda, MD, where a multidisciplinary team of medical experts seeks to unravel the mystery and determine a diagnosis. The fund pays for medical testing for individuals who cannot afford the basic medical work-up needed to make them eligible to apply for UDP.
My sister and I have Niemann-Pick Disease Type B which was formally considered a fatal disease (learn more at http://www.nnpdf.org ). I waited 5 years for my diagnosis then 30 years for experimental treatment! I have been flying from FL to NY every other week for ~2 years to receive experimental enzyme IV infusions. This was only available to 5 adults in the world, but we paved the way for a pediatric and another adult study to start soon in 2015!
After my first infusion my daughter, who had been perfectly healthy her entire life, suddenly developed Severe Aplastic Anemia. Her bone marrow was failing and she had almost zero white blood cells, red blood cells and platelets! I had the same blood type but unfortunately could not donate to her since I was on experimental enzyme. She is well now after the kindness of strangers donating blood products, a round of immune suppression therapy at a cancer center, daily wheatgrass juice, vitamins and raw fresh vegetable/fruit juices.
Donating through this website is simple, fast and totally secure. It is also the most efficient way to support this fundraising efforts.
Many thanks for your support -- and don't forget to forward this to anyone who you think might want to donate too!