I wake up every day and I think, "I'm breathing! It's a good day."
-- Playwright Eve Ensler
May is National Cystic Fibrosis Awareness Month. The condition isn't something I'm really familiar with so I thought it might be time to educate myself.
According to the Cystic Fibrosis Foundation (cff.org), it's a rare genetic disorder found in about 30,000 people in the United States.
Cystic fibrosis causes thick mucus to build up in the lungs so it becomes difficult to breathe. Germs thrive and multiply, which can lead to infections and inflammation that can lead to severe lung damage and respiratory failure.
In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body break down food and absorb nutrients. People with CF often have malnutrition and poor growth.
The mucus can block the bile duct in the liver and, in some people, can cause liver disease.
It does not cause mental retardation or learning problems. It is not cerebral palsy, does not affect mobility or mean a person will have to use a wheelchair.
It begins with a problem in the cystic fibrosis transmembrane conductance regulator gene. Every person has two copies of the gene, some being mutations and some being normal. People who inherit one mutated gene and one normal gene are considered CF carriers; they don't have the disorder but can pass their copy of the defective gene on to their children. It's possible that none of those children, some of the children or all of the children will develop CF; all are carriers. And when someone with CF has children with a CF carrier, the children will either be carriers or develop the disorder.
So what's the deal with genetics?
Genetic information is stored in chromosomes, which can be thought of as different volumes of our genetic encyclopedia. Humans have 23 pairs of chromosomes, and each pair is made of one copy of each chromosome from the mother and the father.
Each chromosome is made of many genes that supply the body with instructions for making proteins. The information that makes up our genes is in code and stored as a molecule called deoxyribonucleic acid or DNA.
The DNA code is made up of letters that spell out entries in our genetic encyclopedia. And they are all different.
Think about it. If we all shared 100 percent of our genetic material then we would all be as alike as identical twins. Thankfully it's not that way, and we are all amazingly made and different.
Different types of mutations in our genes affect the body in different ways. Within our genetic encyclopedia there are small differences in our genes. Sometimes they are minor and do not affect our health. Other times the change in a gene causes a protein not to work or not to be made at all.
Cystic fibrosis is caused by mutations in the gene that produces a protein that regulates the flow of salt and fluids in and out of the cells in different parts of the body.
Genetic testing can be used to tell if a person carries a mutation of the gene. It looks at a person's DNA, which is taken from cells in a blood sample or from cells that are gently scraped from inside the mouth.
More than 10 million Americans are carriers of one mutation of the gene. And the chances of being a carrier or having CF depend on race and ethnicity. The mutations are most common in Caucasians, white people whose family originates in Europe.
The foundation says that the decision to be tested is a personal one that can be helped by guidance from a physician.
People with the disease can do what other people do. Go to school, play sports, get a driver's license, go to college, pursue careers and have families of their own.
It's not a death sentence. As for many people who struggle with their health, being born with the genes that cause CF can be a reason to live life to the fullest.
Email me at:
rboggs@arkansasonline.com
ActiveStyle on 05/07/2018