On February 28, 2010, Rare Disease Day will be 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 is 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.
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.
From strength to strength
Some patients are able to turn their deep sense of frustration into strength and determination to do more. One woman, Samantha Mina, affected by an extremely rare disease, explains in a letter to a Facebook Group called Superior Mesenteric Artery (SMA) Syndrome Awareness & Support:
After […] receiving a life-expectancy estimate of six weeks at one point, I decided I wanted every second of my own suffering to count by making widespread “rare disease awareness” a personal mission of mine. I was stunned by the ignorance and neglect I found in the medical community as a result of having an “orphan disorder,” and even fell victim to some very serious malpractice at the hands of a deceitful surgery professor who essentially wanted to use me as a guinea pig for his research.
After that, I decided that no one else should have to endure what I did, and that public education through networking and online media is a great way to make that happen. That is why I made a YouTube video of my story for the profile of the “World Rare Disease Day” Organization, started the FAQ thread here (see the “Discussions” tab), and authored the Wikipedia article on SMA Syndrome (I was actually stunned the entry didn't exist as of 2008).
Access to adequate health is a major problem for many families, and many have joined, and often founded, organizations dedicated to raising funds for buying medical equipment. They create networks and spread information particularly about the crucial connections between education and health. They can also inform citizens about their patient rights.
On the Rare Disease Support website, Nora tells her story:
My son was diagnosed with a rare disease two years ago. He has had twenty surgeries, countless doctors appointments and has been robbed of his voice. As a result I have willingly and aggressively plunged into the field of public health. I sit in classes these days where the people are talking in a language that sounds similar, but different. But I have realized that helping families with children who have rare diseases is my passion right now. […] as you live life with your child’s rare and unpredictable disease, you experience moments of crisis and despair, but also clarity and purpose. I found my mind making connections between the experience I was having with the health care system and my passion for improving the educational system. […] I again come to the proposition of a community response. A tipping point where people connect with others and help them meet their needs, be those needs educational, health related, or other.
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.
In Italy, the non-profit AISMME Association, among others, was founded in 2005 to promote awareness on a new born screening technique for early diagnose on some metabolic diseases, and its website provides hundreds of links to additional resources and centers across the world related to the hereditary metabolic disease field.
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.
In this video, a young boy named Jeff wins a speech competition by telling the story of how he was diagnosed with a rare metabolic disease, known as Methylmalonic Acidemia when he was only one month old. He gives a proud smile at the end of his difficult speech— and says: “Thank you ladies and gentlemen for listening…”
Anyone can help raise awareness by becoming a “Friend of Rare Disease Day” through this online form. Another option to show support, is to download and feature this “jeans ribbon” from the Global Genes Project on your blog.