Introduction

I am 24 and living with Cystic Fibrosis (CF). Before I dive into my personal experiences with CF, I'd like to give you more information about what it is, how you get it, and how you can manage it.

In 1989, after 10 solid years of research, the CF causing gene was located and identified.

CF is a genetic mutation caused by an abnormality in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)  gene, which is located on chromosome number 7. The CFTR gene moves chloride ions across the epithelial cell membranes located in the pancreas, lungs, and a few other organs. The mutation that causes CF can occur due to a number of reasons such as: deletion, duplication and inversion. The problem with the CFTR gene is not solely deletion, duplication or inversion, the problem lies within the folding of the protein. The protein does not fold normally, therefore restricting the movement of water and chloride ions in and out of the cell.The movement of water and chloride across the cells is either blocked or limited, thus causing the mucus in a CF patient to become extremely thick and sticky. This thick, sticky habitat makes a great home for bacteria to grow.

CF is one of the most common lethal genetic diseases. Because it is genetic, it cannot be spread from person to person.  It is inherited through your parent's DNA. DNA, short for deoxyribonucleic acid, is the hereditary information that is present in all humans. Your DNA also contains information that determines your height, hair color, eye color and many other things. In order to be born with CF you must inherit two copies of the defective CF gene, one from each parent. A person with one defective gene is called a carrier. They carry the CF gene, but do not have CF because they only have one mutation. If a man and a woman are both carriers of the CF gene, their offspring will have a 25% chance of inheriting both copies, a 50% chance of inheriting one defective copy, and a 25% chance of not having CF or being a carrier. Approximately 1 in 31 Americans are carriers of the CF gene.

See chart below for most common CF mutations (CF Patient Registry, 2011)

I would like to thank you for taking the time to read my blog. As time passes, I will share more facts about CF, statistics regarding treatments and life expectancy, as well as my personal experiences, trials, tribulations and everything in between.