Thursday, September 4, 2008

Cystic Fibrosis

Heavy topic, this. I guess a little background is necessary to put things in context: Cystic fibrosis is a chronic, genetic disease that affects approximately 30,000 Americans. It is primarily found amongst those of western European descent. Although there are exceptions, most people are diagnosed at birth or shortly thereafter due to classic symptoms, such as meconium ileus (intestinal blockage) or respiratory symptoms.

Some sobering facts and figures: One in 25 people carry the gene to pass cystic fibrosis on to their offspring. Because it is autosomal recessive both parents need to have a copy of the defective gene and then there is a one in four chance that their child will have CF. According to the CFF the average lifespan of a patient with CF is 37 years and some change at this time, which is a dramatic improvement in the past 20 years. When I was diagnosed in 1984 I was told the average lifespan was 20.

My experience with CF has been far from classic. I was healthy at birth, no digestive symptoms at all and I didn't have any respiratory issues until I was about 10. Its hard to pinpoint exactly when the chronic cough started, but I really don't remember a time when I didn't cough after laughing or physical exertion. Numerous visits to the doctor didn't reveal much other than a series of diagnoses that never really seemed to fit 100%. Asthma, chronic bronchitis, chronic sinusitis, hyperthryoid and even hypochondriasis. Because I didn't fit the classic picture, CF never entered anyone's mind. I became so sick over the course of my teenage years, complete with hemoptysis (coughing up blood), weight loss and severe shortness of breath that someone finally took me seriously. I was diagnosed with some unusual bacterial infections in my lungs and from there a sweat test (the test for CF at the time) was performed. We were all completely stunned when 3 of them came back positive. Whew, a shocker to be sure, but at least we had an answer... one that made sense!!!

To be continued...

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