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My Message as a Researcher to Anyone With a Rare or Undiagnosed Disease

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I did not know much about rare diseases until I started my new job as a researcher a few weeks back. I thought rare diseases were, well, rare. That’s what I believed. However, the more and more I look into it, I realize I was wrong.

The statistics on rare disease are quite astonishing. While each rare disease is rare on its own, when you group them all together, this is not true. There are more than 350 million people who have 7,000 identified rare diseases worldwide. In United States alone, one out of 10 people have a rare disease. Rare disease impacts more people than cancer and AIDS combined. I can sit here and throw out number after number, but the thing is that rare disease is not rare. Yet because of the title “rare” disease, there is a misconception that rare diseases only affect a very small number of people.

As I meet more undiagnosed rare disease patients, I am so inspired by their courage and their grit. Yet so many undiagnosed patients feel like they are on their own. Their doctors just continue to suggest test after test without providing any definitive answers. When the patients can’t rely on the medical professionals, they turn to Google and online forums. The patients and their family become keyboard warriors, looking and searching for any clues that might given them some clarity about their undiagnosed conditions. I hear constantly from patients who feel like they are the only one in the world with their condition and don’t have anyone to connect with. They may feel isolated, lonely and secluded.

I just want to say: don’t give up hope. There are so many people out there supporting and rooting for you. We are all out here to root and provide you with whatever is necessary. I know scientists who are working in genomics, trying to understand, diagnose and treat rare diseases. I know patients who felt hopeless once; now they are diagnosed and successfully cured. Keep searching and keep pushing. Find and connect with other rare disease patients and researchers. There is much more information and help for you. As a researcher who is trying to help rare disease patients, one of the hardest parts is finding and connecting with patients. So let your voices be heard — there are people out there who want to help you. Lastly, don’t give up. Just because your doctor doesn’t have the answers does not mean that there isn’t anyone who can help you. Keep searching and keep fighting. The world is out there for you to explore!

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Originally published: November 18, 2016
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