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Thursday, March 8, 2012

What is Cystic Fibrosis?

I thought it would be fitting to define Cystic Fibrosis. Many have never heard of it before and have no idea what it is, except a disease that makes people get sick and cough. There's so many definitions out there, this is the one that I thought described it best.

Cystic Fibrosis – A hereditary disorder affecting the exocrine glands. It causes the production of abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, reproductive tracts and bronchi often resulting in respiratory infection.

CF, as it is commonly referred to for short, is a genetic disease. You can't "catch" CF from someone else. It requires that both parents be carriers of the disease, and then there's a 25% chance that each child born will have "active" Cystic Fibrosis. There's 50% chance that each child born will be a carrier, and therefore a 25% chance that the child will not get either of the "defective" genes. Carriers of the disease have zero symptoms and are not affected at all by the disease. Click here to go to the Cystic Fibrosis Foundation (CFF) website to learn more about CF.

Alright, so I just gave you the textbook definition of Cystic Fibrosis. That definition usually means nothing to us CFer's (people with Cystic Fibrosis). What CF means to us is how it affects us everyday. It's different for every person. There currently have been over 1500 mutations discovered for CF. Each mutation will have variations of severity for the affected organs. Even those with the same CF genes will present differently regarding symptoms. Each person has 2 CF genes, one from mom and one from dad. Even those CFer's with the same 2 genes won't have the same symptoms. One may have a more severe "case" of CF. So basically CF affects each of us differently and will progress differently.

Which leads me to the next point, that CF is a progressively worsening disease. Cystic Fibrosis is a terminal illness. This means there is no cure and the disease eventually progresses until the affected person loses their life. It's a fact that many try to ignore. They look at me or other CFer's and think "Oh they look healthy they'll be fine." Unfortunately this isn't true, CF is terminal and has been shown to take it's greatest toll on the body throughout the 20's. Therapies to treat CF are coming a long way to help prevent symptoms, and slow the progression of the disease. The greatest of these is a drug that was just released called Kalydeco. It's a HUGE step in the treatment of CF! Very exciting!

That's all I'll get into for now! It seems like a lot to digest if you're just reading about all of this for the first time. My advice is to educate yourself! So many have never heard of the disease, and it still takes the lives of children and people all over the world! I want to help spread the word and raise awareness, so help me do that by educating yourself!

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