Leap Day: Rare Disease Day 2012

We always find Leap Day an interesting thought: having to add a 29th day to February to correct for our calendar's inaccuracy.  I was surprised to learn today that it is also Rare Disease Day in which those with such rare diseases as ... bond together in order attract, not only awareness but also, funding for research.

I first learned of today's event via a story about an Oklahoma family and their young son with

Gordon family raises awareness for called fibrodysplasia ossificans progressive

By Dan Bewley

Claremore, OK (KOTV/CNN) - An Oklahoma family hopes their son's battle with a rare disease could help other parents cope in similar situations. Their 4-year-old's muscles can turn to bone.

Zip Gordon is like every other 4-year-old. He loves to ride his tricycle and even play video games.

But Zip suffers from a rare disease called fibrodysplasia ossificans progressive or FOP, commonly called stone man disease. It causes his muscles to turn to bone.

"Basically what it does, he gets a flare up in his muscle, it causes swelling, which then that swelling turns to bone," said his father, Jacob Gordon.

Jacob says the new bone comes from swollen cartilage and can appear anywhere.

"He gets ribbons of bones on top of his muscle basically forming a second skeleton underneath his skin," he said.

Zip was diagnosed with the disease last summer. Stone man is one of the rarest diseases in the world, afflicting only one in two million people. They can treat the swelling to try and prevent the calcification, but once it's turned to bone there is no treatment.

Right now, Zip's bones have fused in his neck and back, his left bicep, and on his shoulders.

"It hasn't been that hard. He's ours. He's mine, he's Amy's, he's our little boy and this is just the way it is," said Jacob.

The life expectance for someone with FOP is between 30 and 40 years.
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I found the society's webpage: Rare Disease Day 2012.  Here is how "rare disease" is defined:

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of the 6000 to 8000 rare diseases existing.

• 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
• 50% of rare diseases touch children.

If you know someone with a rare disorder, perhaps it might be beneficial to them to share this information with him or her.