Putting the spotlight on rare diseases

PHILADELPHIA, PA.; February 29, 2012

In that case, you follow the old adage of "strength in numbers."

That's the foundation for Rare Disease Day, being marked in the U-S, and dozens of countries around the world.

For the Welsh family of Delanco, New Jersey, it was an important day.

Every 3 days, 22-year-old Kylynn Welsh takes on what looks like an unpleasant task, injecting herself with medication.

But Kylynn says the medication, which only became available a few years ago, has been a life-changer.

"I was able to go out with friends, I could just be a normal teenager," says Kylynn.

Ever since she was little, Kylynn has suffered from hereditary angioedema.

It causes intense swelling that comes on quickly and when it happens in her throat, it can be deadly.

Her mother says it took 12 years to get a diagnosis. Even longer for a treatment.

The problem with rare diseases is that they don't get a lot of attention.

Daniel Applegate's mother started a facebook page for him. He's 9 and suffers from Evans Syndrome, another rare condition.

It attacks the red and white blood cells and platelets. There are therapies to treat symptoms. But there is no cure, leaving him with extreme fatigue, and at risk for infections and severe bruising.

Kylynn and her mother say Rare Disease Day aims to help. They spent the day in Washington, D.C., talking to lawmakers, raising awareness and money for research for ALL of these diseases.

"We say - alone we are rare, together we are strong," says Sandy Welsh, Kylynn's mother, of the Rare Disease Day slogan.

Kylynn says, "My hope for anyone with a rare disease is that they are able to have an effective treatment to know what it is like to have a normal life."

To learn more about Rare Disease Day 2012, check out the campaign's website..

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