Cystic fibrosis

One of our beloved physicians retired. He used to (single-handedly) take care of the cystic fibrosis patients that come to us for their care. After he left, we decided that the kids would be cared for by one of my pediatric colleagues, while I would take over the care of the adults.

I had taken care of CF kids during residency. I thought I knew what I was getting into. I had never been involved with taking care of them as adults.

Cystic fibrosis, for those who do not know, is a genetic disease cause by a mutation in a gene that codes for a chloride transport protein. It manifests as increased, thickened mucus in the lungs, sinusitis, diarrhea (from destruction of the pancreas, so it does not make enough digestive enzymes) and often sterility. Because of its genetics, there are often multiple members of a family with the disease. They need frequent hospitalizations -- at least twice a year -- for intensive antibiotics, chest physical therapy, oxygen therapy and pulmonary therapy.

The first patient I got to care for in the hospital was a pleasant 40-something female. Her lung function tests indicated she was advanced in her disease. In the 'old' days, CF patients would die before reaching adulthood. They are living longer. However, by the time they reach their 40s, they die if they do not get a lung transplant. Studies focus on pulmonary function tests (PFTs) and have correlated FEV1 (measured in percentage of predicted) with life expectancy. A FEV1 of less than 35% indicates a life expectancy of less than 3 years generally. When I admitted her for her bi-annual CF 'tune-up', we got a PFT. Her FEV1 was about 25%. That meant that without a lung transplant she would die in a year. I could see the terror in her eyes. There was no hiding her fate from her. She knew her disease, had watched siblings die and knew the end was near.

Fortunately, she was put on the transplant list and received her lung transplant in time. I had the pleasure of taking out her sutures in the office a few weeks ago and listened to clear lungs.

Another CF adult I inherited was a wayward 20-something. He had had the misfortune of having a childhood cancer, in addition to being the only one of several children in that family with CF. This young man was not very interested in CF bi-annual hospitalizations. He had not come since he was 16. In the years that followed he developed a dreaded lung infection with a bacteria called Burkholderia. This organism is so deadly that CF patients with it are not allowed to attend Cystic Fibrosis meetings for fear that others with CF will contract the infection and may die from it.

I did his PFTs and they had declined from the 70s to the 50s in the space of 4 years. I had to sit him and his parents down and have a hard conversation. I pointed out that at his rate of decline and with Burkolderia, if he continued to live as he did, he would be dead in about 5 years. I had his parents in tears, while the patient looked stoically on.

Fortunately, he stayed the length of time in the hospital and we got his PFTs up to the 80s by intensive antibiotics and much needed pulmonary therapy, with which he cooperated and complied. We pushed death back, I think.

With kids with CF, it was bi-annual CF tune-ups and antibiotics. With the adults, there is watching the PFT decline predictably and waiting for death. I had not expected to be dealing with that. Still, I will care for them -- encouraging, goading, exhorting, doing whatever it takes to extend life.