Rare Diseases Patients Profiled in Psychology Today Magazine

Rare Diseases Patients Profiled in Psychology Today Magazine

10.04.12 | By

In this month's issue of Psychology Today, there was a good read about the psychological impact of having a rare disease, 'The Loneliest Fight', profiling four patients' experience with very different diagnoses and their hopes for recovery. The link only has the general profile, so pick up the hard copy if you can to get the patient profiles, which are quite moving. Both saddening and heartwarming, author Kristen Ohlson writes that, "A person with a rare disease is doubly isolated: he or she lives with serious illness as well as uncertainty about treatment options. There is no choice for a patient but to become an expert and advocate extraordinaire."

I haven't had much personal experience with rare diseases, though at ten years old my brother was diagnosed with a heart condition that, while not technically considered rare disease, affects only about .2 to .5 percent of the population. And Ohlson's quote rang true, as I remember voraciously asking every "smart old person" I saw (this was pre-Google and 12 years old) questions about hypertrophic cardiomyopathy. My family became unlikely advocates for awareness of heart disease, bursting with knowledge of sarcomeric genes and their dastardly effects on mutated proteins.

Ohlson's story is great, but skims over the fact that there are nearly 500 medicines in development for rare diseases - that's a big number. Perhaps she hadn't seen our latest report, linked here. Families dealing with rare diseases can browse detailed information about what stage new drugs are in, where the clinical trials are located and contact information for that clinical trial.

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