Scleroderma

Febuary 28th, 2010 was Rare Diseases Day, and it was marked with a variety of events and activities all over the world - as well as with plenty of citizen media and online participation. The goal was to raise awareness about so-called rare or orphan diseases. These are diseases that affect only a relatively small number of people in any given country (definitions vary). But the numbers add up. Worldwide, it is estimated that there are 6,000 to 8,000 rare diseases.

In Europe alone, 30 million people have rare diseases, according to a Eurordis 2005 report (login to download a copy below).

For the most part, rare-disease patients and their families have to cope with an enormous sense of solitude, fear and vulnerability because there is a general lack of information about their diseases. There are usually also limited funds for scientific and medical research or special treatment centers.

A Rare Disease Day channel on YouTube features dozens of videos, ranging from personal accounts to information concerning specific syndromes, to this video about dolphin therapy. This cartoon in Italian by artist Bruno Bozzetto was created to help raise awareness about rare diseases.

Preventative Measures
Early diagnosis is something that can make a huge difference for many rare disease patients, and many patient advocates push for life-saving detection measures. For instance, some severe errors of metabolism could be diagnosed through screening of new born babies. With just a drop of blood sampled from a baby's heel, you could potentially make a difference between a normal life and a severely damaged one.

The story of one family in the United States on Rarediseases.org  helps illustrate what a huge difference early detection can make. Jana Monaco's son Stephen is severely brain damaged as a result of not having been tested at birth and diagnosed for an enzyme deficiency called isovaleric acidemia. His younger sister leads an entirely different life, because she did.

The Importance of Hope
Epasen is a teenager in Finland who writes a moving blog titled Living with sclero - My Life with Localized Juvenile Scleroderma, a rare chronic autoimmune disease. She writes about the importance of never losing hope:

"So one day, I decided that it had to come to an end: I'm not a quitter. I can not give up all of my dreams for reasons I can not affect. All these years I've been thinking “I can not do this, I have scleroderma.” But now I've grown to see that it just ain't so: I want to at least try. I have chances just like everyone else, I have motivation and a lot of mental strength. Why wouldn't I make it? […] All those tears I had cried for losing my chances, all those sleepless nights and stressful days […] I cannot compare my situation to anyone else's since I'm not them. I don't know what healthy really is. But I do know, that I work out six times a week just that I'd be able to complete my [military] service with great statements, beat the guys or at least be as good as them. As able as everyone else."

Anyone can help raise awareness by becoming a “Friend of Rare Disease Day” through an online form. Another option to show support, is to download and feature this “jeans ribbon” from the Global Genes Project on your blog.

Source: Global Voices Online