Let's start with a few symptoms that are very prominent in CF patients:
- salty skin
- persistent cough
- frequent lung infections
- poor growth/weight gain
- bulky, foul smelling stools
- nasal polyps
* Please note: These symptoms may vary in severity depending on which genetic mutation the patient has.
Diagnostic Testing:
- Sweat test- most common test used to diagnose CF. A small electrode is placed on the skin to stimulate the sweat glands. The sweat is collected and the amount of chloride is measured. People with CF have a high level of chloride in their sweat.
- Genetic testing is also available. A blood sample is taken and sent to a lab that specializes in genetic testing. There are more than 1,000 mutations that cause CF, however most labs only test for the most common mutations because testing for all mutations is simply not possible. Genetic testing is used as a back up in case the sweat test results are unclear or for some reason invalid.
I was born in May of 1989. I weighed in at a whopping 5lbs 6oz, full term. Immediately after laying her eyes upon me for the first time, my mother says she knew something was wrong. The next six years would prove her motherly instincts right, as would the rest of my life. For the first six years of my life I was shuffled between my primary care physician, with whom I still have much anger towards, Children's Medical Center of Dallas, and a number of specialists. I was low in weight, extremely short, and wore the same clothes for YEARS! I still remember my Pocahontas boots I received as a gift when I was 5. I wore them until I was 7, and sometimes wish I still could! I contracted every sickness going around, the flu, multiple times, pneumonia, multiple times, the measles, chicken pox, bronchitis, you name it, I probably had it. I had terrible stomach pain which often resulted in a trip to the ER, simply to be prescribed a laxative of some sort. I can still recall lying across the backseat of my mom's minivan. Driving to the ER at Children's Medical Center. She was speeding there because something was seriously wrong. A cop pulled us over, and I was in the backseat crying my eyes out, doubled over due to the intensity of pain I was experiencing. The officer apologized and escorted us to the ER. That was just one of many traumatic experiences. Around age 5 I was diagnosed with severe asthma, I guess that explained having pneumonia 8-12 times per calendar year. I had an appointment with my primary care physician in early September. He was out of the office, so my mother and I met with a fellow doctor. He reviewed my information and concluded that he would test me for Crohn's disease, CF and a number of other possibilities. I remember having monitors hooked up to me, and I was walking, or running, not too sure, and I was drenched in sweat. I also remember feeling like I was being shocked, I had no idea what was going on. The pain was intermittent, and extremely irritating. We never heard back. No news is good news, right? Wrong. No news in this case meant that someone wasn't doing their job. Around November of 1995, I went to a last minute appointment with my primary care physician. He said they needed to take my appendix out as soon as possible or else the consequences would not be in our favor. I was being rolled back to the operating room, and my mom asked him "Did you get the results from the CF test? Does she have Crohn's disease?" The doctor raised his voice and asked my mom "Who on earth would run a CF test for this girl? She doesn't have CF!" We pulled aside into a room, and waited. He came in, and according to my mom, he was as white as a ghost, and said "the sweat test was positive...she has CF." I was then referred to see a pediatric CF specialist. My mom finally received an answer, although I know it isn't what she wanted. A least it was a start...
'till next time,
B.
