What Is Cystic Fibrosis?

So remember when I said that I was going to blog at least once per week about my big 10-day long hockey game for Cystic Fibrosis? Consider this my first of such postings.

Since one of the goals of the game is to raise awareness about CF, I figured that I should blog about what CF is.

When I first heard about this fundraiser, I thought about what I knew about this disease and, sadly, it wasn’t very much. I knew it had something to do with the lungs and had a vague recollection from a biochemistry class that I took many moons ago that maybe there was a chlorine pump involved at the molecular level. But that’s all I could remember – clearly, I needed to raise my own awareness about this disease! So I’ve done a bit of reading and now present you with:

Some Facts About Cystic Fibrosis:

  • It’s a genetic disorder that affects many organs in the body
  • Signs and symptoms include:
    • difficulty breathing
    • constant cough which brings up thick mucus
    • excessive appetite, with weight loss
    • bowel disturbances, such as intestinal obstruction or frequent, oily stools
    • skin which tastes salty
    • repeated or prolonged bouts of pneumonia
    • failure to thrive1
  • 1 in 25 Caucasian people carry one copy of the gene for CF (two copies of the gene are required to have the disease)
  • results from a mutation in the gene for a protein called cystic fibrosis transmembrane conductance regulator (CFTR)2
    • this protein regulates the components of sweat, digestive juices, and mucus
    • a person must have two non-functioning copies of this gene to have CF
  • there is currently no cure for CF, but treatments include, among other things, antibiotics to prevent/treat infections (which are common), medications and physical techniques to dislodge mucus in the lungs (see picture below), dietary and drug treatment for digestive tract manifestations of the disease; as lung disease progresses, people with CF may need to be on a ventilator and, ultimately, require a lung transplant.
  • the life expectancy for people with CF in the US in 2008 was 37.4 years
  • the median survival rate for people with CF in Canada in 2007 was 47.7 years
A breathing treatment for cystic fibrosis, using a mask nebuliser and a ThAIRapy Vest

And here’s a video with some info on CF:

Image Credit: From the Wikimedia Commons.

Resources:

  1. Source: Cystic Fibrosis Canada []
  2. I’ll talk more in depth about this protein in another blog posting because I am, after all, a biochem nerd by training []

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