It’s a genetic disease typically diagnosed in children, but doctors say many adults are living with cystic fibrosis and may not even know it.
Dr. Oscar Alea, a pediatric pulmonologist on the medical staff of Golisano Children’s Hospital, says there are 1800 recognized mutations of cystic fibrosis and there are probably countless more that haven’t been identified yet. “It varies on the genetic expression, on what mutation you have. There are some mutations that are more aggressive.”
Cystic fibrosis is a genetic mutation that affects the cells that produce sweat, mucus, and digestion. “They would look normal but they would tend to produce a lot of mucus so they would have sometimes a repetitive diagnosis of bronchitis. It can also sometimes imitate asthma. Some of the mutations can just affect pancreatic function, meaning they may have some manifestation where they don’t absorb fat very well or they don’t gain weight very well,” said Dr. Alea.
Severe cases can have chronic lung infections, dehydration, and isolated liver issues. These cases are usually found during childhood. But with so many mutations of the disease, some patients may have no symptoms at all. “Many of us could be walking around without knowing that we have cystic fibrosis,” said Dr. Alea.
Patients like Danielle Hammond didn’t know she had cystic fibrosis until her son Jonah was diagnosed at 8 weeks old. “It was horrible. When you first find out you google and it’s the worst thing you can do. I never knew. I had never been sick in my life. I’ve been fine but he’s been in the hospital four times,” said Danielle.
Danielle’s case is so mild she doesn’t need treatment, but her son Jonah has to do three hours of breathing treatments a day.
“Like any disease, the better you’re taken care of the better you’re going to do,” said Dr. Alea.
To find out if you have the disease, doctors use a sweat chloride test to measure the amount of chloride in the skin. The test can determine if a patient has the disease and how severe it may be.
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