Cystic fibrosis and its symptoms

I had a friend whose first child was born at only six months gestation. Because he was premature, his lungs were not fully developed. My friend used to whack her baby’s back with a ferocity that alarmed me. She was loosening up the secretions in his chest so he could breathe better. Through it all, her son remained perfectly serene, unaffected, so it seemed, by the turmoil.

I thought of my friend as I saw another mother pounding on her daughter’s back, only her daughter was a teenager. She had cystic fibrosis and her mother’s goal was the same as my friend’s – to loosen those secretions and improve breathing.

My patient – I’ll call her Susie – is one of 30,000 children and young adults in the United States with cystic fibrosis, or CF. CF is the most common fatal genetic disease in the United States. Susie inherited a defective gene from both her mother and her father. The result of having these two faulty genes, rather than even a single normal gene, is that instead of having watery mucus that coats the lining of her organs with watery slime, Susie has abnormally thick mucus.

This thick mucus causes problems in the lungs and in the digestive tract. In normal lungs, a thin layer of mucus coats the air sacks and keeps the lungs free from germs that could cause infection. In the CF lung, the mucus is thick and sticky. It’s hard to move and hard to cough up. (Hence the whacking.) The airways get clogged and frequent infections ensue.

But the problem doesn’t stop in the lung. It probably never occurred to you, but we have internal organs that need that slimy mucus to do their job correctly. The pancreas is one of them.

The pancreas secretes enzymes into our intestines that make it possible to digest the food we eat. CF causes mucus buildup in the pancreas as well. The enzymes can’t get out to do their job so Susie must add enzymes to her long list of medications to help her digest her food. She struggles to keep her weight above 90 pounds.

Susie suffers from the symptoms common to CFers. She has a chronic cough as she struggles to mobilize the thick gunk in her chest. She suffers from frequent lung infections that land her in the hospital on intravenous antibiotics and intensive lung therapy for weeks at a time. Like so many teenagers, she is perhaps not as good at keeping up with the pills, special diet and intensive schedule of twice daily breathing treatments as she should be.

The cycle of repeat lung infections takes its toll on CF patients like Susie. Each infection can damage the lungs, and eventually, in many with CF, the lungs just can’t do the job of breathing anymore. Respiratory failure is the usual cause of death in those with CF.

We’ve gotten a lot better at caring for children with CF. Up until the 1980s, most deaths in CF occurred in children and teenagers. Now, with intensive treatment, the average person with CF can live to the mid-30s.

Susie faces the possibility of needing a lung transplant if her lungs continue to deteriorate. If she gets the tiny lungs she may need, they will only prolong her life a bit, not cure her. And her medication list will grow as she adds anti-rejection medications to her already long list.

There is no cure for cystic fibrosis. As we peer into the future, the possibility of gene therapy is the best hope for a cure for CF. Since CF is caused by a defect in a single gene, scientists hope that replacing that gene with a normal one could be the answer. Of course, that’s a lot trickier than it sounds.

My New Year’s wish is that those scientists will figure it out, so that children like Susie can live a normal life.

And my other New Year’s wish is that you all have a safe and healthy new year.