When babies aren't gaining weight or have pneumonia, their parents don't usually think of a rare genetic disorder.
For one in every 3,500 white infants, though, these symptoms might signal cystic fibrosis, an inherited disorder that makes mucus in the body become thick and sticky.
A Lubbock cystic fibrosis awareness walk is set for 8:30 a.m. May 15 at Lubbock Christian University, 5601 19th St.
Patients with cystic fibrosis have respiratory secretions that are much thicker and dryer that normal, said Adaobi Kanu, an associate professor of pediatrics at Texas Tech Health Sciences Center and a specialist in pulmonology.
While rare in children of other races, about 1,000 white children are born with cystic fibrosis each year, according to the Cystic Fibrosis Foundation. Boys and girls are equally affected, the foundations reports.
While thicker mucus might sound trivial, it's anything but, local experts said.
The glue-like substance causes sinus infections, pneumonia and infections that cause inflammation and permanent lung damage, Kanu said.
The median life span for those with cystic fibrosis is 37, Kanu said. But new treatments are making it possible for people to live into their 40s and longer, WebMD reports.
According to Kanu, the thick mucus can obstruct the pancreas, preventing enzymes that break down food from entering the intestine and doing their job.
"Many individuals have difficulty gaining weight," she said.
That's how Erin Simpson, a Lubbock nurse, was first diagnosed.
"At 10 months old, I quit gaining weight," Simpson said. "At a year, I started losing a pound a week."
A positive test for cystic fibrosis surprised doctors, since Simpson didn't have respiratory signs.
She didn't have breathing problems until she was 18, she said, which is extremely rare for cystic fibrosis patients.
While Simpson, 24, has a mild form of the disease - she's only had two emergency stays in a hospital compared to dozens for many patients - she spends hours each day managing the symptoms.
There is no cure for cystic fibrosis, Kanu said. Patients are prescribed a combination of mucus-thinning drugs and exercises.
Simpson spends 90 minutes each day doing chest therapy, a technique that allows her to loosen the sticky mucus. She aids the regimen with inhaled medicines, and takes about 20 pills a day to break down her food and control infections, she said.
Simpson has a normal life expectancy, doctors have told her. She completed her bachelor's degree in nursing at West Texas A&M and has worked as a labor and delivery nurse at Covenant Women and Children's Hospital since 2008.
It's an accomplishment not everyone supported, she said.
"I had a professor tell me he didn't think I could do it," she said.
She still faces hurdles - like having healthy children.
In cystic fibrosis, two changes in the gene - one from the mother and one from the father - cause the sticky mucus.
Simpson would like her future spouse to be tested, she said.
"To pass it on to a child, knowing there's a high chance, that would be hard to do," she said. "I might decide to adopt."
But most babies born with cystic fibrosis come from parents who carry the gene, but do not know it. About one in 30 people carry a mutation, according to the Emory University's Department of Genetics.
Kanu said new therapies will help babies born with the disease.
"Some medications in phase 2 and 3 (clinical) studies have been shown to alter the expression of the abnormal protein," she said.
"There is also research with gene therapy, but I believe that's years away from being available."
The awareness walk set for May 15 will raise money toward finding a cure and supporting local families, Kanu said. For more information, call (214) 871-2222 or visit www.cff.org/great_strides.
Original article can be found at http://www.lubbockonline.com/stories/050510/fea_633622567.shtml
