Testing for Cystic Fibrosis

Since I found out I was pregnant with baby number two, I have worried about her having cystic fibrosis like her big sister. I put it in my head early on that she had it in order to try to keep my emotions in check if she was diagnosed with it once she was born. I convinced myself that it would be good because her big sister would have someone in her life that understood.

After she was born, her newborn screening was normal. That was step one. The next step was doing the sweat test, the best way to diagnosis CF. Using a colorless, odorless liquid and electrodes on both of her tiny arms, the CF clinic staff forced her to sweat on one side of each of her arms. The arms were then cleaned and sweat collected. The amount of chloride in the sweat is a sign that someone may have CF since those with CF lose more salt in their sweat than the average person. The whole process takes just over an hour and the results are ready within five hours. We received the call yesterday at 3:55pm that my new daughter’s results were normal.

Sigh of relief, but there is still one other test I want done before I am 100% satisfied with believing that she doesn’t have CF. Genetic testing is expensive but it will give us a definitive answer and also tell us if she is a carrier like her dad and I are. There are over 1600 mutations for CF, but we each carry a copy of the most common (delta F508). It is the easiest to find, especially since we know what we are looking for. If they don’t find any mutations, she is CF free. If they find one mutation, she is symptomless carrier like her father and I. If they find two, she does have CF.

I plan to do this test within the month, but until then, I can relax knowing that while one daughter does have CF the other doesn’t. I can focus my attention on each of them in different ways and will have more time to give to them each individually.

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About Nancy

I am a freelance writer focused on parenting children with special needs. My articles have been featured in numerous parenting publications and on www.parentingspecialneeds.org. I am the former editor and publisher of Vermont HomeStyle Magazine. I am a wife and mom to a two daughters, one with cystic fibrosis and one who is a carrier for cystic fibrosis.