What, Exactly, Is Cystic Fibrosis?

How does cystic fibrosis do what it does?

I’ll admit it, we either have to stop and think of the logic of what the biological process is or go to Wikipedia and look it up to refresh our memory. I’d rather have the information here at my fingertips, so here goes a scientific/layman combination attempt at explaining what is wrong with CFers’ bodies.

Cystic fibrosis transmembrane conductance regulator – CFTR

What the heck, Fatboy? I know, I’ll explain this – don’t worry. Simply stated, this is a protein on the a gene in chromosome 7 in people that regulates the balance and flow of water and sodium chloride between cell membranes to keep a consistent ratio of water in one’s cells. In cystic fibrosis, particularly in the mutation referred to as ΔF508, it just doesn’t work. I happen to have a double ΔF508 mutation (one gene from each parent) that makes my form of CF the “most common” by percentages of mutations known of the CFTR gene.

That means thick, sticky mucus and other bodily fluids

From an early age, even inutero, this gene can wreak havoc on the body, depending on the mutation. Some CFers go decades without diagnosis because they generally function just fine with their mutation. Others are on the lung transplant list by the age of 5. I happened to be born with exploded intestines, which is a common, obvious diagnosis of CF in infants called meconium ileus and have a huge scar running from side to side across my gut.

Over time, but actually rather quickly, the pancreas gets clogged with gunk and it stops producing enough enzymes to digest food, which was one of the two main causes of death before people had a name for CF. “Failing to thrive” was often found on death certificates. By the teen years, if not before, many CFers, (again, based on the mutation) are completely artificial enzyme-dependent. I take 6 ZenPep capsules with every meal. Without insurance, eating alone would cost me over $3,000 per month to get those meds.

The next biggest area of issue related to CFTR, and the eventual downfall of nearly every CFer is mucus in the lungs. Due to the cells being thicker, gorged with excess water, they are too big to allow the cilia in the lung lining to move them out like a normal lung would. This is a living petrie dish for infections, and we get bad strains of multiple-resistant bacteria. These infections also increase the number of white blood cells in the lungs, which consequently die and add to the heap of gunk. It’s basically a train wreck. We’ve seen how many nebulized aerosols I take every day, plus a chest percussive vest, plus vitamins that CFers are also deficient in. Not cheap, but that’s what insurance is for.

Infections are the number one cause of hospitalizations and IV antibiotics. In many cases it leads to acute, terminal lung failure. It’s also one of the primary reasons we need to eat so much, along with malabsorption issues, because infections take a lot of energy to fight off, as anyone who has had a cold or flu knows. Now think of having a cold or flu with 40% lung function and a raging metabolism that starts to take every bit of reserves available. I shudder. I also got the flu shot and the swine flu vaccine as a result of those dangers.

But don’t be sad, new things are happening

There are new medicines in FDA testing that specifically target the diseased lung tissue and restore it to normal CFTR function. It’s still unknown if this reverses years of damage or will simply keep things from progressing. With the continual invention of new CF antibiotics to fight pseudomonas aeruginosa and staphylococcus aureus bacteria, the fight is looking really good for those of us who are still hanging on.

I’m very glad my function tests are actually on the rise and anticipating the end of this crap, not with a transplant or death, but with a microbiological fix of the very structure that fails me on a daily basis.