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New Hope For Suffers Of Rare Disease

A rare disease is getting special attention in Tulsa. It's called hereditary angioedema, and fewer than 10,000 Americans have the disease. But News on 6 anchor Terry Hood says for people in a new study, an experimental drug is finally spelling relief.

On the surface, it looks no different than an allergic reaction, but this painful disease has no single trigger.

"You never know when an episode is coming on, you do start feeling it as it is coming on. And if you've had this for a while, you are able to determine this is happening. Sometimes it can come on pretty fast and you don't know," said Emma De La Cruz.

Emma De La Cruz was born with hereditary angioedema; her 16-year-old son has it too. She says anything from stress to a change in the weather can trigger an attack.

"Once something turns this inflammation system on, it just keeps going, causing leaking blood vessels and the swelling occurs," Dr. David Hurewitz said.

Dr. Hurewitz diagnosed Emma after years of not knowing what caused the swelling.

"They thought it was psychological. I had to have a surgery, thinking that was the problem. I've had teeth pulled thinking there was an infection, just anything to find what the problem was," De La Cruz said.

Emma can't predict when or where the swelling will start, but says it happens around five times a month.

Her eyes have swollen shut, and her hands and stomach have ballooned.

"If people swell in the throat, it can be life-threatening and some people unfortunately die from this," Dr. Hurewitz said.

Dr. Hurewitz has Emma trying a new injectable drug. It's the only thing that's worked for her. Now the pain that's plagued her for 30 years is gone in 30 minutes.

It's no cure, but for Emma, it's a big relief.

A mutated gene causes this disease. Treatments have been available in Europe for 20 years, but the FDA needs more experimental drug trials to approve the medicines for the United States.
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