To begin, I want to be clear that I do not have cystic fibrosis, or CF as it’s often called. The reason it comes up for frequently on this blog, and the reason I’ve create this page, if because my lovely girlfriend, Ashley, was diagnosed with it at the age of two and has been living with it ever since.
I’ve discovered that most people who either do not have or do not know someone how has CF do not have clear understanding of what it is.
To begin, cystic fibrosis is a genetic disease. It affects roughly 30,000 people in the U.S. and 70,000 people worldwide.(1) CF is most common in Caucasians, affecting about 1 in 3,600. While also somewhat common amongst Native Americans, the incidence of CF is rare in people of Africa and Asia decent. However, the disease is found all around the world.
In short, CF is caused by a single protein being either defective or deficient in the cells of the certain glands. This protein is responsible for the movement of chloride (Cl–) across the cell membrane. When not functioning properly, the glands are left with large quantities of chloride both in the cell and outside of them. This negatively-charged ion will combine readily with almost anything it can, most commonly: sodium. This creates NaCl, which many of you likely will remember is simple table salt.
The excess of salt in the glands is then washed into whatever substance the gland excretes, most notably, sweat, mucus, and digestive enzymes. These crucial humoral substances then become thick and viscous, causing all manner of sequelae.
(See The Pathophysiology of Cystic Fibrosis for a more detailed description of the above.)
While there are over a thousand mutations of the single gene that causes this protein deficiency, most people with CF experience similar symptoms:
- Increased difficulty with breathing.
- Respiratory infections.
- Digestive distress and pain.
- Bulky or greasy stool.
- Inability to grow or gain weight.
- Thick sputum.
- Salty skin.
- Clubbing of the fingers.
- Males typically are infertile due to the vas deferens improper function.
(See Signs & Symptoms of Cystic Fibrosis for a more detailed account.)
Before cystic fibrosis was fully understood, maximum life expectancy of a CF patient was roughly 30. Many died in their teens. Today, better understanding of the disease and improvements in medicine, treatment, and transplants (lungs, liver, kidneys, and sometimes heart), people with Cf are living much longer than ever before, many into their fifties.