Cystic fibrosis breakthrough led by Seattle doctor

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by JEAN ENERSEN / KING 5 News

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KING5.com

Posted on November 2, 2011 at 10:58 PM

Updated Friday, Jan 4 at 10:44 AM

 

SEATTLE -- A big breakthrough Thursday in the battle against cystic fibrosis: the first drug to treat the underlying cause of the disease.  Although only a minority of cystic fibrosis patients will benefit, the Seattle doctor who led the the research says it means they've finally found the pathway to treating all patients with the disease.

 

See Rick Cissna run.  See him run faster. What you won't see is Cissna coughing or stopping because he can't go on. 

"It's like I hit the jackpot," said Rick.

Hit the jackpot because he shouldn't be able to do this.

Rick has cystic fibrosis, a  life threatening genetic disease that attacks the lungs, causing excess mucous buildup making breathing difficult and leading to infections  

If anyone knows what's it's like to see a loved one suffer from CF, it's Rick's wife, Kathy.

"Christmas morning he would be, sometimes he would be sick in bed, not feeling well and we'd just have to go to Plan B. We were doing Plan B a lot," said Kathy.

Seattle's Children's Dr. Bonnie Ramsey has been one of the country's leading researchers for CF. Over time, she's seen slow but steady progress.

"Just those treatments alone in the last 20 years alone have improved the lifespan from the mid-teens to now being the later 30's about 38 years. so it's been a dramatic improvement," said Dr. Ramsey.

"Over the last 30 years, I 've seen a lot of things have helped me, but by far the biggest one is this," said Dr. Ramsey.

A pale blue bill, for now called VX-770, the first drug to treat the underlying cause of the disease.  But it's a drug that almost didn't happen.

"Twenty years ago this could never be accomplished because we didn't know what the mutation was. We would have just tested all CFpatients  Twenty years ago and we would have completely missed this," said Dr. Ramsey

Thanks to the Human Genome Project, Rick's mutation has been identified.

He started on the drug two years ago as part of a clinical trial and within days noticed a huge difference.

"For the last two years, I've been living large and pinching myself because it's like having a different life. A whole new life," said Rick.

"Now it's like he doesn't have CF anymore," said Kathy.

Now Rick can keep up with his kids. 

"Before it was all about me taking care of myself. Now it's more about me taking care of them and being with them and be their daddy," said Rick.

And for Rick, being his kid's daddy is the best benefit of all.  

 

The drug, which will be marketed under the name Kalydeco, has been submitted to the FDA For approval.

Even though only five percent of CFpatients stand to benefit, Dr. Ramsey says the next round of clinical trials will involve this drug plus other medications to find the right combination for treating the vast majority of CFpatients.

 

 

 

 

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