New drug, new hope for local woman with cystic fibrosis

Published On: Jul 29 2013 10:30:25 PM EDT
Updated On: Jul 30 2013 10:40:00 PM EDT

The diagnosis is unthinkable: parents are told their child will die in their 30s, that their child carries a gene that could be an early death sentence for their own children? That is the reality of living with Cystic Fibrosis.

JACKSONVILLE, Fla. -

Imagine being told your child will never grow old and will die in their 30s.  Imagine being told they carry a gene that could be an early death sentence for their own children.  That is the reality of living with cystic fibrosis.   It's a disease that ravages the lungs and digestive system and many people can carry the gene and not even know it.

Kalydeco, a newly-approved drug by the Food and Drug Administration, is giving new hope to people living with a rare form of the disease.  UNF student Emily Mazza is one of them.

"Now that I'm on it, i feel like I have a new life," said Mazza.  "It's twice a day, 12 hours apart, so once in the morning, once at night."

It's a routine Mazza doesn't mind a bit, considering the alternative.  She was diagnosed with CF at 15 months.  She was always tired, out of breath and as a teenager, was in and out of the hospital for two weeks at a time.  Mazza even had to use a chest compression vest to help her breathe.

While millions of people can carry a cystic fibrosis gene, it takes two people with the gene to pass it to their child.

According to the FDA, Kalydeco isn't for all CF patients.  It's for patients with the specific G551D mutation in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene.  Only about 4 percent of CF patients have that mutation, like Mazza.

"To have a drug on the market that lets a parent tell a child that they will lead a normal life if they take this pill is truly miraculous," said Jim McCarthy with Cystic Fibrosis Foundation North Florida.

McCarthy says donations are the key to finding treatments like Kalydeco.

Now that Mazza can be saved, he wants to do the same for others suffering from cystic fibrosis.

"We're not going to stop until we can get to all of them," said an emotional McCarthy.  "And that's our goal.  That's our goal."

There is another drug working its way through FDA trials that can be used to treat 50 percent of the people living with cystic fibrosis.  Again, it's all thanks to donations that fund research.   If you would like to help go to CFF.org.

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