Ever since taking biochemistry a couple semesters ago I had a
weird interest in cystic fibrosis. We had this topic on a test and I decided to
research it and found it quite interesting. My professor had provided videos of
people that had this disorder and their daily lives.
Cystic fibrosis is a genetic disorder that mostly affects
the lungs and sometimes the pancreas, liver, kidneys, and intestines. People
that have CF usually have a difficult time breathing and cough up mucus. This
is because they usually get frequent lung infections. CF is an autosomal recessive
disorder. It is caused by the presence of a mutation in both copies of the
gene, cystic fibrosis transmembrane conductance regulator. This gene is
otherwise known as CFTR. CTFR is involved with producing sweat, digestive
fluids, and mucus. When this gene is not working properly, the secretions that
are usually thin become extremely thick. This is what causes lung and sinus
infections.
To test for CF a sweat test and genetic test is done. There is currently no known cure for this disorder. The infections that are obtained are treated with antibiotics. These antibiotics are usually inhaled or taken by mouth. If lung function continues to worsen, lung transplant is an option. Most people with this disorder take pancreatic enzyme replacement and fat soluble vitamin supplements. Some people even use chest physiotherapy. This is when they strap a special vest around their chest that vibrates and shakes to break up the mucus in their lungs.
High-frequency chest wall oscillation uses an inflatable
vest that is attached to a machine. The machine powers the vest to perform
chest physical therapy by vibrating at really high frequencies. Every five
minutes that the machine is running it is turned off so that the person can
cough up any mucus that was loosened up. In the machine there is an air pulse generator
that attaches to the generator by hoses. The generator send air through the
hose causing the vest to inflate and deflate at a fast pace. It does this about
20 times per second and it creates pressure to the chest that is similar to
clapping. This motions doesn’t only loosen mucus, but works it in to major
airways so that it is easier to cough up. The sessions with this vest usually
last about 20 to 30 minutes.
The average life expectancy is 42 to 50 years and lung
problems are responsible for 80% of the deaths. There are more than 30,000
people in the US and the symptoms of this disorder varies from person to
person. This truly amazes me because that means that 30,000 people are all
living with this disorder and most likely have different symptoms. Below I have
attached a photo of the vest that they use to help break up the mucus. This is
what I found so interesting about this disorder. It’s incredible that someone
found a way to loosen mucus in a way that the body isn’t able to do.
https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/
https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Airway-Clearance/High-frequency-Chest-Wall-Oscillation/
Back in middle school, I had a friend with cystic fibrosis. We did presentations in a science or health class on a disease, and he chose his own disease. It was very eye opening to hear a first hand account of the burden of this disease with all the breathing treatments and medicine and things just to try to stay somewhat healthy. He mostly suffered from extreme amounts of mucus in his bronchioles, which caused him to be coughing pretty much every thirty seconds. I remember him telling us the life expectancy is not very good. It was very sad to have him, a victim of this disease, telling us the grim outlook. I am sure a lot of research is going on especially at the gene level to look for therapies and drugs to counteract this disease. I hope they make some breakthroughs soon!
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