By Kathy Hubbard
John is one of those people who can always see goodness in everyone and everything. I worked with him for years at another newspaper and because we shared a cubicle I saw first-hand his love and extraordinary patience with his wife and two daughters, the younger of whom had cystic fibrosis (CF).
“Sixty years ago, many children with CF died before reaching elementary school age,” Medical News Today said, “However, advances in treatment mean that people with CF often live into their 30s, 40s, and beyond.”
The bitter pill for John to swallow was that it was a mutant gene carried by both he and his wife that caused their daughter’s CF. You see, cystic fibrosis is caused by a change or mutation in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). CF occurs when both parents have the mutated gene.
“If you inherit only one copy, you won’t have any symptoms, but you will be a carrier of the disease. That means there’s a chance you could pass it to your children,” WebMD explains.
Roughly 10 million Americans are CF carriers and there’s a 25 percent chance that their baby will be born with CF. This adds up to about 1,000 babies each year. It’s estimated that around 30,000 people in the U.S. are currently living with CF.
“Early diagnosis means early treatment and better health later in life. Every state in the U.S. tests newborns for cystic fibrosis using one or more of these three tests: A blood test checks the levels of immune-reactive trypsinogen. People with CF have higher levels of it in their blood. A DNA test looks for a mutation to the CFTR gene, and a sweat test measures the salt in the sweat. Higher than normal results suggest CF,” WebMD says.
John’s daughter suffers from persistent coughing, shortness of breath, and wheezing because the defective gene responsible for CF leads to the development of thick, sticky mucus that’s hard to cough out of the lungs.
“The mucus also interferes with pancreatic function by preventing enzymes from properly breaking down food. Digestive problems result, potentially leading to malnutrition,” MNT says.
This thickening of mucus can also cause male infertility by blocking the tube that carries the sperm from the testes to the urethra,” they also said. Bowel issues including greasy, bulky stools; nasal polyps, and poor weight gain are other symptoms as is salty-tasting skin.
The American Lung Association says, “There have been many advances in CF treatment. Patients can take medications to help thin and clear the thick mucus from the airways, enzymes to help absorb fat and nutrients, and antibiotics to treat infections. There are also new treatments that target fixing the CFTR protein.
Today there is genetic testing to determine if you’re a carrier. John said he wished that had been available twenty years ago. Now, you can choose to do carrier screening before you get pregnant or after.
“The doctor will collect a blood, saliva, or tissue sample from inside your cheek,” Familydoctor.org says. “If you test negative as a carrier, the other person does not need to be tested.” If you test positive then your partner should be tested as well. Then, you will want to talk to your doctor about your options.
If you’re pregnant a prenatal screening can be done in one of two ways. Chorionic villus sampling (CVS) is when the doctor collects a sample of tissue from your placenta. This test is done between weeks 10 and 13. Or, they may suggest an amniocentesis which is the collection of a sample from your amniotic fluid. This test is done between weeks 15 and 20.
“Keep in mind that no screening is 100 percent effective,” Familydoctor.org says. “Carrier and prenatal screenings cannot check for all gene mutations. If the tests are negative, there still is a rare chance you carry CF or your baby could have CF.”
John encouraged his daughter to live a full life. He cheered on her attempts at sports, he enthusiastically celebrated each birthday, and when she graduated from college he was beside himself happy. The last time I saw him he said, “Despite ups and downs, she’s outlived her expectancy!” Maybe in the next 20 years, there’ll be a cure.
Kathy Hubbard is a member of Bonner General Health Foundation Advisory Council. She can be reached at firstname.lastname@example.org.