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 ฮF508, it just doesn’t work. I happen to have a double ฮF508 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.
There she is. The woman who saved me from myself. Words cannot express how she has changed my life, however, as a degree-bearing professional writer, I will give it a shot.
