The weight of a handshake: Living with and among cystic fibrosis
Inside and out, our bodies are covered with germs and bacteria. In an interactive world, we leave our mark on everything from fingerprints on a handrail to the exchange of bacteria from a simple handshake. Most of the time, these actions are harmless.
However, for the approximately 30,000 people in the United States living with cystic fibrosis (CF), close contact like a handshake can sometimes be the difference between a healthy week and an infection requiring a hospital stay.
CF is a genetic disease passed down from parents who are carriers of a defective CF gene, with severe symptoms including reduced lung function, coughing, inability to gain weight, and more. The mutations cause a malfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which maintains salt and water levels in the body and within cells. Without proper function of the protein, chloride gets trapped inside cells and prevents water from reaching the cell surface, ultimately leading to a sticky mucus lining the lungs. This mucus becomes a breeding ground for germs and bacteria that have the potential to cause severe and sometimes life-threatening infections.
However, for the approximately 30,000 people in the United States living with cystic fibrosis (CF), close contact like a handshake can sometimes be the difference from a healthy week and an infection that requires a hospital stay.
In the 1980s, researchers’ understanding of CF was not as complete as it is now. Doctors knew that bacteria in the lungs of CF patients, like Pseudomonas aeruginosa and Burkholderia cepacia complex, were harmless to normal lungs, but they did not how easily the bacteria could infect the CF community. However, in the 1990s, a dangerous strain of B. cepacia was found that had spread between a group of children at a CF summer camp.
Suddenly, the interactions around CF drastically changed. CF camps closed and the Cystic Fibrosis Foundation (CFF) implemented huge adjustments in infection control efforts across the country to minimize the possibility of one CF patient infecting another with their bacteria. Mostly focused on patients with the more dangerous B. cepacia, these guidelines included recommendations for them to schedule clinic visits at different times from other patients with CF and to not attend indoor CFF events.
In 2003, stricter guidelines arose after a breakout of a new bacteria, Burkholderia dolosa, among CF patients at Boston Children’s Hospital caused over 20 patients to suddenly decrease in lung function and cause the death of one woman.
Now, CF patients are recommended to keep at least six feet of distance between each other, farther than any germs can travel through open air. The 2013 Infection Prevention and Control Clinical Care Guidelines from the CFF also include suggestions on hand hygiene, contact for health care personnel, and limitations of only one person with CF at any CF-related event.
But CF is hereditary, so what happens if there are two or more people with CF in the same family?
In 2015, a study showed that siblings with CF can be risk factors for each other. Siblings with CF, while inheriting the same mutant genes from their parents, see different rates and symptoms of disease expression and progression. In many families with more than one sibling with CF, the same strain of bacteria often colonizes their airways. The goal of this study was to analyze the impact of disease expression and its outcomes for families with multiple siblings with CF. They conducted a retrospective study of two different groups — two siblings with CF and three or four siblings with CF — using patient data like age, gender, and mutation type as well as bacterial colonization counts, number of hospitalizations, and forced expiratory volume (FEV1). Each sibling in the study was compared with another CF patient similar in every aspect except having siblings with CF.
There are many risk factors and environmental determinants that can drastically change a CF patient’s outcome, but this study proved that multiple family members with CF can be risk factors for each other as well.
The study concluded that patients in families with three or more siblings show a significantly lower FEV1 leading to a faster decline of lung function, more bacterial airway colonization, more hospitalizations, and a significantly higher need for lung transplants. Additionally, the FEV1 rate was lower for the youngest sibling in the family. However, for families with only two siblings with CF, there was not a significant impact to differences in disease expression or rates. This study proved that multiple family members with CF can be risk factors for each other in addition to many other environmental risks.
Although most living with CF cannot meet in person, there is a virtual community for patients, caregivers, and advocates to support each other through any obstacle and every celebration. While they won’t spread germs with a handshake, they can continue to spread messages of hope.
DOI: 10.1016/j.rmed.2014.11.012
