According to the Cystic Fibrosis Foundation, over 30,000 Americans are living with cystic fibrosis and there are about 1,000 new cases diagnosed each year. Roughly 75 percent of diagnoses occur by the age of two, though occasionally the disease reveals itself during the teen years or even adulthood. There is no known cure, yet in recent years there have been significant improvements in preventing and managing symptoms. In order to be well-informed and best prepared before having a child, it is recommended that both parents partake in DNA carrier testing for cystic fibrosis.
Cystic fibrosis is a genetic disease that gets worse over time. It is caused by a defective gene that produces an excessively thick and sticky mucus, which can lead to severe lung infections, regularly clogged lungs, and an obstructed pancreas. There are many common symptoms, including constant coughing, salty-tasting skin, frequent cases of pneumonia or bronchitis, shortness of breath, an inability to gain weight (despite eating well), irregular and difficult bowel movements, and male infertility. Symptoms vary among patients both in type and severity.
Treatments for cystic fibrosis have come a long way in a relatively short period of time. Airway clearance therapies, medicinal inhalers, and patient-tailored vitamin supplements have all contributed to easing the ravaging nature of the disease. While children forty years ago often died only a few years after being diagnosed, it is now common for people with cystic fibrosis to live well into their late 30’s or early 40’s. And not only has life expectancy increased, but the quality of life has as well: sufferers are often able to live active, well-rounded lives, especially if they keep up with doctor-recommended exercises and prescriptions.
A simple blood sample can detect whether a person is a cystic fibrosis carrier. A carrier will have one copy of the defective gene and won’t show any symptoms. Thus it is possible for two perfectly healthy parents to pass on the defective gene without even knowing they have it. In a case where both parents are carriers, there is a 25 percent chance the child will have cystic fibrosis, a 50 percent chance the child will be a carrier but won’t have cystic fibrosis, and a 25 percent chance that the child will be neither a carrier nor have cystic fibrosis.
There are rare cases where a person can test negative and still be a carrier. This happens when the person tested has a mutated form of the gene that isn’t picked up in the test. Also, it is possible, if only one parent is a carrier, for the child to have cystic fibrosis, but it is extremely unlikely.
Before having a child, it is a good idea to ask your doctor to perform DNA carrier testing for cystic fibrosis. The process is easy and, whatever the results, allows you to make informed decisions for you and your family.