Cystic fibrosis (CF) is a complicated disease. The complex nature of CF is what makes the management and treatment so time consuming. No CF patient is like another and there are various severities and symptoms associated with one diagnosis. CF affects “most” large organ systems, so to make it easier to understand, I divided my sad, broken organs into sections for a little bit of education. Grab yourself some coffee- it might take awhile! First, we will start with some statistics and how you win the CF lottery.
CF is an autosomal recessive genetic disorder. If you paid attention in high school biology, you might remember that means each parent must pass down the mutated copy of the gene in order for the child to have CF. Parents who carry one mutated copy are considered carriers, like my mom and dad. Two carriers who become pregnant have a 1 in 4 chance that the baby will have CF (1 in 2 chance the baby will be carrier and 1 in 4 the baby will not be affected). About 1/31 Americans are CF carriers, so about 1/3844 people win the CF lottery (thanks to my genetic counseling friend for that math). I won and have two copies of the most common mutation: DeltaF508. This mutation causes issues in the cystic fibrosis transmembrane conductance regulator (CFTR) protein that is within our cells. The faulty CFTR cannot allow the normal passage of salt and water through the cells causing mucus- which is literally everywhere in our body- to become sticky and thick. It is so glamorous. Also, CF sweat has a much higher concentration of salt because of the faulty CFTR and when licked our skin tastes like a potato chip (is “salty girls” making more sense now?). I am pretty sure we are actually all beached mermaids.
CF is often described as a progressive lung disease, mainly because lung issues become the primary symptom and often are the cause of shortened life expectancy. The mucus in a CFer’s lungs is sticky and thick, making it difficult to clear. Bacteria gets trapped in the mucus which causes chronic infections that are colonized. CF infections are only dangerous to other CFers and are not contagious to the average person. The chronic infections cause inflammation and constriction of the airways and eventually lead to tissue death and structural changes within the lungs. Other complications include: hypoxia, pulmonary hypertension, hemoptysis and ultimately, respiratory failure. Chronic cough, excess production of mucus, shortness of breath, and wheezing are common respiratory symptoms. Lung function is measured using spirometry to assess how well the lungs are working and close attention is paid specifically to the fev1 number. When fev1 becomes dangerously low, a double-lung transplant becomes the last option for treatment.
The pancreas’ main function is to release digestive enzymes and insulin. In CF, the mucus clogs the pancreatic ducts causing a disruption in the release of digestive enzymes (i.e. pancreatic insufficiency). Without the help of digestive enzymes, fat and nutrients go unabsorbed and pass right through the digestive tract . . . if you get what I mean. Poor weight gain and malabsorption are often the first symptoms that lead to a diagnosis in infancy and early childhood. As the CFer gets older, the damage that occurs in the pancreas can also begin to disrupt the release and use of insulin. About 50% of all CFers develop cystic fibrosis related diabetes (CFRD) at some point in their lifetime. CFRD is a unique type of diabetes that shares characteristics from both Type 1 and Type 2 diabetes. CFers with CFRD are insulin-dependent but require a high calorie, high fat and high protein diet to combat the constant struggle to maintain appropriate weight. The extra energy expenditures due to constant infection, chronic cough, and difficulty breathing only further complicate poor weight gain. Enter, 4000 calories a day.
Thick mucus in the liver can also block the release of bile which aids in digestion. The bile is backed up into the liver causing scarring and cirrhosis over time. Cirrhosis can lead to a decreased ability to remove toxins from the blood, which is bad, very bad.
The sinuses are the only place I believe sinister mucus actually belongs. Get it together, body. The same infections that are present in the lungs can also live in the sinuses of a CFer. Increased inflammation from sinus infections can also inhibit the ability to breathe and cause headaches, pressure and nasal polyps. Many CFers require sinus surgery to tunnel out sinus passages that have become scarred from constant infection. Nasal polyps are extra skin that form in the nasal passages which occur in about 10-20% of all CFers.
In men with CF, 98% are infertile, but not sterile, due to a missing vas deferens. With assistive reproductive technology, many male CFers have started families. About 20% of CF women have difficulty becoming pregnant due to thick cervical mucus and other complications listed above. Higher BMI and lung functions are shown to be associated with healthier and safer pregnancies and births. However, many women are still advised not to become pregnant due to poor health. Reproductive technology, surrogacy, or adoption have allowed many women to successfully start families.
It is a lot of information and this is only the tip of the giant iceberg of CF. Complications often lead to other complications and medications lead to other medications to combat side effects from the original medications. It’s ludicrous, I know. It is overwhelming to think that so much can go wrong within a body, but still a maintain life. It is important to understand all the pieces and parts of the disease process to understand living with CF as a whole. If you are interested in understanding what is takes to maintain my health and control my disease, head over to “This Body” and I will go into depth about my daily routine.