It’s been a long time coming, but I finally got my Running for Rare at the Boston Marathon fundraising page up and running. I’ve been training this whole winter in preparation for the 2017 Boston Marathon. I was given special entry to the marathon courtesy of the B.A.A. because of my struggles with my own rare genetic disorder, sitosterolemia, and my mission to raise awareness of it through running.
One of the best ways to help me raise awareness of sitosterolemia and other rare disorders that are similarly in need is to donate whatever you can to the National Organization for Rare Disorders (NORD). Help me support this organization by visiting my donation page.
I’ve got the ball rolling with a $75 donation of my own. Can you help me keep the it rolling all the way to Boston? I dare you to match me!
I’ve set a very low goal of $1,000 to make it look even more awesome when we surpass it by hundreds of percentage points, but let’s first get there. We’ll worry about the next milestone after that, and then the next, and then the next…
Learn more at doyourshare.com.
What is NORD?
NORD is essentially a patient advocacy organization, but comprises over 260 individual patient organization members, such as The Sitosterolemia Foundation. Its claim to fame was getting congress to pass the Orphan Drug Act in 1983 to incentivize pharmaceutical companies to research and produce drugs to treat rare diseases. NORD is currently the hub of the rare disease community and connects all stake holders to keep pushing for progress.
A lot of that progress for a lot of rare diseases is to continue research, help those those still searching for a diagnosis, fund of clinical trials, since many rare diseases still have no treatment available.
Running for Rare Team
Running for Rare has brought together a community of runners since 2008 to raise funds for NORD by running marathons. Recently these funds have gone directly to NORD’s Undiagnosed Diseases Network and its Patient Assistance Program. The program helps families and patients, who have tried everything they can when seeking a diagnosis, afford the extra testing necessary to be enrolled in the UDN, with hope of finding a diagnosis and treatment.
The UDN’s main mission is to connect these families and patients with leading clinical and research experts who seek to solve these medical mysteries with the most advanced technology. In doing so, UDN can propel forward our understanding of the human body. Stanford Heath Care is one of the Clinical Sites of the UDN; I did not participate with the UDN while being seen by SHC doctors en route to my diagnosis of sitosterolemia, but I can attest to the quality of care at SHC and their determination to work with challenging patients.
Running for Rare spawned out of a running team from biomedical company Genzyme that connected workers and Boston Marathon runners with patients with rare diseases. The goal has always been to support NORD, but in addition to providing fundraising and awareness to the cause, runners on the team have also been partnered with a particular patient and family to establish a community of participants.
Accurate Diagnoses Are the Key
I’ve had to overcome chronic anemia caused by sitosterolemia in order to get back running healthfully. Sitosterolemia is a very rare genetic disorder, and merely getting the diagnosis and starting the limited treatment was challenging enough. I’ve basically been waiting my whole life for a proper diagnosis, and have been misdiagnosed a couple times along the way, which was frustrating. However, I have been supremely fortunate.
There are several cases of children with sitosterolemia who suffer strokes among other symptoms because they did not get a diagnosis and treatment early enough. And there are so many more out there with rare diseases whose lives have been severely compromised if not ended by a rare disease. I have been relatively healthy my whole life because of running and my love for it. Sitosterolemia for a time stripped away that love and took some of my life away, but with a proper diagnosis and treatment I’m well on my way to reclaiming it all and thriving once again.
Help me support efforts to improve and extend medical research to get those with rare diseases diagnosed and on a path back to a healthier, more fulfilling life! Visit my Running for Rare at the Boston Marathon fundraising page for NORD and donate whatever you can today. If you do, you will very much be in my thoughts and my thanks on race day.
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