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Rare Disease Day

February 27, 2010 by Victoria

Tomorrow is "Rare Disease Day," the one day each February that the rare disease community comes together to raise awareness and celebrate our shared strength. NORD (National Organization for Rare Disorders -- a branch of the NIH) created this campaign to raise awareness of rare diseases as a public health issue and highlight the need to invest in rare disease research.

Did you know over 30 million people suffer from rare diseases in the US alone -- that's 1 out of every 10 people -- not so rare when you look at it like that. There are nearly 7,000 rare diseases -- 80% are genetic in origin, 75% impacting children. Rare diseases can be chronic, progressive, debilitating, disabling, and, as we know all too well, fatal with no cure.

Spinal Muscular Atrophy -- SMA-- is a rare disease just like diseases you may have heard of: ALS/Lou Gehrig's, Cystic Fibrosis, Duchenne Muscular Dystrophy, Sickle Cell, and some you may not have: PKU, BVVL, Fragile X, Niemann Pick, Krabbe Disease. SMA has the distinct pleasure of being called a "common rare" disease -- an oxymoron in my book -- "common" in that 1 in 40 people carry the gene, "rare" because both parents must be carriers and not every child they create will have the disease.

Like SMA, many families impacted by rare diseases find delays in obtaining an accurate diagnosis, often face misdiagnosis, struggle with patient services, and obtaining adequate medical care. And like SMA, research is often underfunded and rarely invested in by the big drug companies. Yet, when I begin to feel frustrated with the pace of SMA research, I remind myself that I am in a fortunate position. SMA IS being researched, shows SO much promise, and an end to this cruel disease IS plausible. It is going to take a lot more work, a lot more people, and a lot of funding, but a cure IS realistic. This is not the case for so many of the thousands of other rare diseases.

So join me in supporting Rare Disease Day. Visit the Rare Disease Day US site and click to "Raise Your Hand", visit the World Rare Disease Day site, tweet about it, Facebook about it, and let the world know that you CARE ABOUT RARE!!!

Here is a cool video created for last years World Rare Disease Day:

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