Rare Disease Day – fighting for awareness and hope

It’s hard thinking of something as rare when one in 20 people are at risk of experiencing it in their lifetime. But that’s the situation with rare diseases. There are more than 7,000 of them and each affects under 200,000 people. In some cases they may only affect a few hundred people. But for each person that disease, though rare, poses a real threat. And that’s why Rare Disease Day was created.

Rare Disease Day is held on the last day of February each year.  The goal is to raise awareness among the general public about the huge impact these diseases have on people’s lives. That impact is not just on the person with the disease but on the whole family who are often struggling just to get a diagnosis.

Every year groups around the world, from patients and patient advocacy organizations to researchers and policymakers, stage events to mark the day. This year there are more than 460 events being held in 96 countries, everywhere from Albania and Andora to Tunisia and Uruguay.

Here in the US many groups organize events at State Capitols to educate elected officials and policy makers about the particular needs of these communities and the promise that scientific research holds to combat these conditions. Others have auctions to raise funds for research or public debates to raise awareness.

Each event is unique in its own way because each represents many different diseases, many different needs, and many different stories. The goal of these events is to put a human face on each condition, to give it visibility, so that it is no longer something most people have never heard of, instead it becomes something that affects someone you may know or who reminds you of someone you know.

Here’s a video from Spain that does just that.

You can find a complete list of events being held around the world to mark Rare Disease Day.

At CIRM we feel a special link to this day. That’s because many of the diseases we fund research into are rare diseases such as severe combined immunodeficiency (SCID), and ALS or Lou Gehrig’s disease, and Sickle Cell Disease.

Evie Vaccaro, cured of SCID

These diseases affect relatively small numbers of patients so they often struggle to get funding for research. Because we do not have to worry about making a profit on any therapy we help develop we can focus our efforts on supporting those with unmet medical needs. And it’s paying off. Our support has already helped develop a therapy for SCID that has cured 40 children. We have two clinical trials underway for ALS or Lou Gehrig’s disease. We also have two clinical trials for Sickle Cell Disease and have reached a milestone agreement with the National Heart, Lung and Blood Institute (NHLBI) on a partnership to help develop a cure for this crippling and life-threatening disorder.

The hope is that events like Rare Disease Day let people know that even though they have a condition that affects very few, that they are not alone, but that they are part of a wider, global community, a community committed to working to find treatments and cures for all of them.

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