CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered anautosomal recessive disease.
Tuesday, March 29, 2011
Day 7 27/03/2011
I'M GETTING SICK OF THIS
Hey guys another day in the life of a sick girl!
Well what can I educate you about today.... Lets start at the very start of my life.
I was born with Cystic Fibrosis and was diagnosed at six months old. So I guess you could say that I have had it my whole life. And what is CF you may ask? Well here is some info I pulled off wikipedia earlier:
Cystic fibrosis (also known as CF or mucoviscidosis) is a common recessive genetic disease which affects the entire body, causing progressive disability and often early death. The name cystic fibrosisrefers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and infertility result from the effects of CF on other parts of the body.
Thank you wikipedia! Anyway so I have lived with this disease my whole life and let me tell you it has been hard! But of all the things wrong with me this is not one of things I would take away! But then again this disease did lead to everything else so maybe I would let it go!
So what can I tell you about it, well it means that every time I eat I have to take medication to help me absorb the great stuff out of it (ect vitamins). And that I go into hospital alot! (and I mean alot) in my life time I have been in hospital over 50 times! And when I go in I am stuck to a drip which then becomes my best friend, even coming me to the toilet!
There is so much more to share with you about this disease, but I want to share the hardest part. For me it's the thought of dying young, and the last years of my life being attached to an oxygen tube and then suffocating to death. At the moment my lung function is at 76% and I am so scared every time that number goes down. The thought that I don't really get to dream about a future is the hardest part.