Cystic Fibrosis Testing

By Corinne Rose

June 18, 2010 Updated Oct 11, 2007 at 5:27 PM EDT

(Fort Wayne, IN) -- While 95% of people who have a specific genetic mutation carry Cystic Fibrosis, the other 5% develop the terminal disease.

But a local program is helping identify the problem sooner, so patients can be treated earlier.

Elizabeth Anderson looks and acts like any other two-year old.

But right now, doctors only expect her to live to her mid-30's.

That's because she has Cystic Fibrosis, which interrupts function in the pancreas, and causes significant mucus build-up in the lungs.

Dr. Pushpom James/Pediatric Pulmonologist: " Diagnosing at birth improves nutrition and improves growth long term, and results in improved cognitive function, as well. You can hopefully prevent the lung damage that occurs with this disease, reduce hospitalizations. So lot of benefits."

On October first, the state of Indiana added CF to the list of diseases that newborns must be screened for.

If a positive result comes back, Lutheran Hospital is one of only four sites in Indiana accredited by the Cystic Fibrosis Foundation to conduct follow-up sweat tests to check patients for high chloride content, a leading indicator for the disease.

Krista Anderson/CF Patient's Mom: " She tasted very salty, and that was even after you had bathed her, she was extremely salty. That was one indication."

Fortunately, Elizabeth was diagnosed when she was eleven months old, allowing for early nutritional and medical intervention.

Krista Anderson/CF Patient's Mom: " Using a nebulizer with mask, and she breathes in all kinds of medicine that helps with her lungs."

At two years old, Elizabeth has already endured multiple surgeries, weeks in the hospital, and therapy to re-learn how to eat.

But her parents are cautiously optimistic that researchers are close to finding a cure, one they hope will come within her lifetime.

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