A Rare Experience

by Divya Shah
      There are over 7000 known rare diseases/disorders. 1 in 12 Canadians has a rare disorder. What do we mean by rare? A disorder is ‘rare’ if it affects less than 1 in 1600 individuals.
When you hear hoofbeats, it isn’t always a horse.
      A common teaching in medicine is that when you hear
Zebra
The zebra is the mascot of the rare disease community.
hoofbeats, don’t expect to see a zebra. Look for the most probable diagnosis.
      Rare disease patients represent 1 zebra in a stable of 1600 horses. Because of this, many rare disease patients are misdiagnosed and often undiagnosed.
      My personal connection to rare diseases lies in a misdiagnosis and a lack of diagnosis. Moreover, I am an immunology and infection student. I am interning in Washington, D.C. with the National Organization for Rare Disorders (NORD). NORD an umbrella group for rare disease organizations. My affiliation with NORD began last year. I am a co-founder and co-president of the NORD student chapter on campus.
      Before getting into internship details, I’d like to address frequently asked questions about my trip to D.C. The Lincoln Memorial is beautiful. I have seen the White House. Many local folks are very supportive of the second amendment. No, I have not high-fived Donald Trump.
Food
First time cooking Indian food!
      In addition to government buildings like the White House and Pentagon, D.C. has an outstanding collection of historical attractions and the Smithsonian buildings are exceptional. Apart from successfully learning how to cook some Indian food, I have visited many memorials, monuments, and museums.
      At NORD, I am part of the Membership Team. We work with and empower member rare disease organizations via resources to start, manage, and expand their advocacy and research. We unify individual zebras into a dazzle.
RIA
NORD’s 35th anniversary Rare Impact Awards!

      The NORD family was very welcoming and continues to provide incessant support in all aspects of my experience. With them, I had the privilege of helping organize and attend the Rare Impact Awards on NORD’s 35th anniversary a few weeks ago, in which leaders in rare disease research and advocacy were recognized for their achievements.

Membership team
With the membership team at the Rare Impact Awards!

My current project addresses an integral aspect of rare disease advocacy and research. Many rare disease organizations, being non-profits, struggle with attracting researchers and clinicians for their medical advisory board (MAB). These professionals apply for grants, verify publications with medical information, and discuss scientific issues, which increases the credibility of these organizations.

     I am working with the membership team, organization leaders, and ultimately the rare disease community to develop a resource that can help these organizations create, manage, and expand their MAB. As of now, I have been gathering perspectives from leaders in different organizations. I will be talking to various other leaders to ensure what I am planning is what is necessary within the resources. I hope to draft these resources by the time I finish my internship.
      If you have any questions or comments, feel free to reach out!

 

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