Living with Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disease which is known to affect your lungs, liver, kidneys, and pancreas. This rare disease is the major cause of severe lung disease in children, occurring in over one thousand new cases each year. According to the Center for Disease Control and Prevention (CDC), over 30,000 people in the US suffer from cystic fibrosis.

Symptoms of cystic fibrosis may present as coughing mucus, difficulty breathing, lung infections, and constipation. Cystic fibrosis patients suffer from thick mucus which can block their airways. This can lead to infections, difficulty breathing, and problems digesting food properly.

Cystic Fibrosis doesn't go away and can make life very difficult. How can patients learn to live with the disease?

How Do You Get Cystic Fibrosis?

Cystic Fibrosis is an inherited, chronic disease.  

Even then, not all of the kids may have the actual disease.  Theoretically, if a couple of carriers had four children, one would develop the disease, two would be carriers only, and one would be completely unaffected. 

The defective gene prompts the body to create extremely thick and sticky mucus.  This mucus obstructs both the lungs and the pancreas, leading to breathing difficulties and trouble digesting food.

How is it Diagnosed?

The condition is usually diagnosed by the age of two.  Despite a healthy appetite, children have poor growth and difficulty gaining weight.  They also have very bulky stools due to their food not being well-digested.  A persistent cough is accompanied by bouts of wheezing and shortness of breath.  Parents also notice that their children's skin is very salty-tasting, a side effect of an abnormally high electrolyte concentration in their sweat.

This abnormality is the basis of the "gold standard" for cystic fibrosis testing: the sweat test. 

A small electrode is placed on the arm along with a collection device.  The area is wrapped in a dressing, then the electrode is used to stimulate the sweat glands.  The sweat accumulates in the collection device and then the chloride level is tested.  The higher the chloride the level, the more likely it is that the person has cystic fibrosis, with 60 mmol/L being the level at which a diagnosis is certain.

Genetic testing is also used, but mainly when the sweat test results are borderline or unclear.  This is because there are over 1000 genetic mutations that can cause cystic fibrosis and most labs only test for the most common ones.

Can it be Cured?

No.  It's a chronic condition and, sadly, often a fatal one.  On the positive side, great strides have been taken in extending the life expectancy of people with cystic fibrosis.  

Now, at least half live to their mid-30s and into their 40s.  Some live even longer, as the severity of the disease can vary greatly.

The life expectancy of those diagnosed has steadily increased over time.  Infants who are born with cystic fibrosis today may have even longer life spans thanks to new treatments that are now available.  Many younger people are pursuing careers, marrying, and starting their own families.  This was unimaginable, even a few decades ago.

Read More: Cystic Fibrosis: Causes & Risk factors

Organizations, such as the Cystic Fibrosis Foundation, work to fund research into new therapies and medications.  The Cystic Fibrosis Foundation created its own specialty pharmacy to help patients get access to medication and therapy and provide support with insurance issues.  They also seek out patients with cystic fibrosis who are willing to participate in clinical trials and help advance the science of therapeutic medications and therapies.

What is it Like to Have Cystic Fibrosis?

The Symptoms

There are plenty.  People with cystic fibrosis have chronic obstructive pulmonary disease (COPD).  The mucus produced by their bodies is so thick and sticky that it becomes trapped in the lungs, leading to frequent infections such as pneumonia.  Breathing is difficult and labored. 

Failure to thrive is evident in those diagnosed.  

The same mucus that fills the lungs also obstructs the digestive tract and the pancreas.  The pancreas is a gland that secretes powerful enzymes that help with digestion in the small intestine.  When the pancreas is blocked by mucus, it can't deliver those enzymes and digestion is impaired or fails to occur.  Without digestion, people with cystic fibrosis are unable to absorb necessary nutrients, leading to failure to thrive.

There are a variety of other difficulties brought on by cystic fibrosis.  These can include arthritis, peptic ulcers, salt depletion, and delayed puberty.  It is truly a multi-system disease.

The Treatments

Treatment plans for people with cystic fibrosis are highly individualized, but there are some basics.  Most people's lungs are affected, so there are normal therapy routines that have been developed to help clear the lungs of accumulated mucus.

Chest physical therapy uses the technique of postural drainage and percussion to move mucus out of the lungs.  The patient assumes various positions to allow gravity to pull mucus into the large airways where it can be coughed out.  

For small children and infants, assistance is necessary.  Adults are usually able to perform their own therapy.  There are even special inflatable vests that can be worn which vibrate at high frequencies to loosen and thin mucus.  Various breathing techniques and devices are also employed with the same end in mind.

Pharmaceutical therapies are also used to help patients with cystic fibrosis breathe more easily.  Expectorants thin mucus so it can be coughed out.  Regular antibiotic regimens are prescribed to fight bacteria that grow in the accumulated mucus.  Anti-inflammatory drugs, like over-the-counter ibuprofen, help to reduce inflammation in the airways.  When mucus is cleared and inflammation reduced, bronchodilators can be used to help open up the airways.  They are ineffective when mucus and inflammation are present, however, because the broncho-dilating medication is unable to reach the tissues.

Pancreatic enzyme supplements are taken with each meal and most snacks in order to assist with digestion.  Multi-vitamins are also taken to help boost nutritional intake. 

Read More: Lung Diseases: Emphysema & tobacco smoke

With steadily increasing life expectancies, those diagnosed today may be able to experience a life span that approaches the norm.  New therapies and new medications hold a lot of promise for treatment.  Gene therapy research is ongoing and may some day hold the key to a cure for cystic fibrosis.  Until then, patients and their families work with their doctors to obtain consistent, high-quality care and to lead fulfilling and rewarding lives.