Why and How to Care about Rare Diseases

Published in The Megaphone, 10/20/2016

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Those fortunate enough to bear a relatively blank medical record don’t consider the experiences of people with rare diseases until it affects them directly in some way. Rare diseases is a subject that deserves much more attention than media and common knowledge gives it, as these diseases have reached many more people than commonly thought. These illnesses often create unique problems and issues for those living with such illnesses, and their families. But there are ways we can support those with rare diseases, the first of which, is being educated.

According to the National Institute of Health (NIH), a disease can be classified as rare if it affects fewer than 1 out of every 200,000 people in the US. NIH currently has over 7,000 diseases classified as rare; 50 percent of those who face these diseases are children. Recent numbers indicate that more than 30 million people suffer from rare diseases in the US alone. This number does not include undiagnosed patients, and if it did, it would likely be much higher.

Receiving a diagnosis is one of the largest unique issues for those with rare diseases. This is in part due to the obvious fact that many doctors are unaware that these diseases exist, or do not have enough understanding of them to diagnose.

“The first challenge was obtaining a correct diagnosis which is excruciatingly difficult with rare diseases. For the most part, doctors in medical school focus on common conditions. Therefore, if they hear hoofbeats they look for horses. That is why Hallie and her fellow rare disease patients called themselves ZEBRAS,” Jerry Brody, the retired Vice President for Student Life at Southwestern, said about his daughter Hailey and the challenges she faced while living with a rare disease called Ehlers-Danlos Syndrome (EDS).

Another reason diagnosis can be so difficult for patients and doctors is because for many of these diseases, every patient will have different symptoms. No two cases of the same illness will result in the same, or in some cases, even remotely similar signs. Often times the symptoms a person suffers from will be very common, leading to many misdiagnosis and delays in treatment, all while the diseases progressively worsens.

“I was diagnosed withPostural Orthostatic Tachycardia (POTS) last January after nine painstaking years of tests and doctor visits (often several a day). I saw 26 different kinds of doctors and none of them could figure out what was wrong with me, but they all ran tests and drew blood every visit. I’ve had some of the strangest procedures and tests run that you could imagine,” Lindsey Cook, a First Year in college and close friend to an SU student, said about her own journey towards diagnosis.

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