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Patients with rare diseases share their extraordinary stories

An estimated 25-30 million Americans have a rare disease, defined by the National Institutes of Health as a condition affecting fewer than 200,000 persons. I happen to be a member of this most unfortunate club (I was diagnosed with a rare blood disorder a decade ago), so I took notice yesterday when the company Inspire posted a compilation of narratives (.pdf) written by other patients living with chronic illness.

These patients have diseases with unfamiliar, intimidating-sounding names such as chuvash polycythemia, serpigenous choroiditis and leiomyosarcoma. Many are quite ill; while my own disorder has proven to be more of a nuisance than a menace over the past few years, this is not the case for the majority of these patients. A 54-year-old woman with serpigenous choroiditis, for example, is already blind in her left eye and about to lose vision in her right.

Many have struggled to be properly diagnosed ("My husband’s illness is so rare or bizarre he doesn’t even have a diagnosis," wrote one woman), some have had negative experiences with physicians (more than one referenced being told that their illness was "in my head,") and several expressed sadness over what has happened to them. "I grieve for the person I was before being diagnosed and I’m working on who I’m supposed to be now," wrote a 35-year-old woman with sarcoidosis.

Their illnesses and stories vary greatly, but Inspire CEO Brian Lowe was correct when he wrote that what these patients have in common is "an urgent desire to be heard, a willingness to share, and a desire to make the journey a little easier for others." I agree with the advice provided ("Be your own best advocate. Research and learn as much as you can about your condition... Don't give up," wrote a scleroderma patient), and I was deeply moved by the courage of some of these patients, including the woman who is going blind:

I am not happy with the thought of complete blindness but am thankful to still be here and feel the sun on my face and wind in my hair... My motto is never give in and keep moving forward.

The narratives are worth a read - especially if you or a loved one has a rare disease, and certainly if you're the physician of a patient with one.

Previously: More TV dramas highlighting patients with rare diseases

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