My daughter Cate just had her first birthday. We found out shortly after she was born that her newborn screen was positive for CF. Her IRT was about 90 but it was mutation negative. Since there was no family history of CF, we just kind of forgot about it. But, then she started having trouble gaining weight, and even lost weight a few times. She started at the 50% in weight, got up to the 90% in weight at 3 months, and has steadily fallen since then - she's currently at about the 5-10%. When this started happening, we had a sweat test done, just to rule out CF as a cause of her poor weight gain. Her result was 41, which I was told was an indeterminate result. So, we had an expanded mutation panel done, which tested for 97 of the mutations that cause CF. It was negative, but the doctor told me that he couldn't tell me definitively that she doesn't have CF because there are close to 1300 mutations that can cause CF. Now, we're dealing with Cate's 10th upper respiratory infection. She doesn't attend daycare and isn't around other kids much, so I can't figure out why she keeps having these respiratory infections. She has probably had pneumonia at least twice, but I'm a pediatric resident, so I try to manage her at home rather than taking her into her doctor (bad of me, I know!). She has been hospitalized once with a respiratory infection. She also has had rectal prolapse on two different occasions and has occasional large bulky foul smelling stools. I wanted to know if any of you were diagnosed with any other test than the sweat test or expanded mutation panel. I am trying to figure out if I should take my daughter to a pediatric pulmonologist (who has a ton of experience with CF) and have more testing done, or if I should just quit freaking out and leave it alone. I have a son who has special needs, so I probably over react a little when it comes to Cate. Any advice? Any of you have a similar experience? I would love your input. Thanks!
Barbara
Mom to Cate 04-10-07
Barbara
Mom to Cate 04-10-07