I don't know if this is the right place to ask but I don't know where to ask. I know this is for families with CF but I didn't know who would have this knowledge.
I just had a DNA screen for CF. It came back that I have one gene mutation and so I was told I am a carrier. My allergist had me tested b/c my peak flows and PFTs are on the low side and have gone down the last few years even though I am on various medicines. I haven't ever smoked and haven't ever lived with anyone who smoked. He also had me tested for alpha trypsin 1 and that is not a problem. I don't have CF in my family but my mom always said her family seemed to have weak lungs. My Grandma developed COPD (emphysema) even though she never smoked. My Grandpa smoked though. My aunt has had numerous bouts of pneumonia and now has BOOP. Anytime my mom gets anything upper respiratory she is wheezy and has to sleep sitting up etc. She has had pneumonia a few times also. My youngest brother was diagnosed with asthma as a child and still has problems. Another brother and I were diagnosed with asthma as adults and my other brother has had wheezing episodes but not many.
The allergist told me I may want to get my children tested for CF. The pediatrician said he would do it if I want but he thinks it makes more sense to have my husband tested to see if he is a carrier b/c if he isn't then our children would be fine. Our five children range in age from 3 to 21 and it seems like if they had CF we would have known by now. I was worried when our fourth one was a baby b/c he had really smelly bowel movements even though he was only breastfed and that didn't happen with the others. He also didn't gain weight very easily and was super skinny. He nursed and then ate like crazy and stayed skinny and then suddenly when he was almost 2 he started to grow really quickly and is now (at age 8) in the 75 to 95% for height and weight. He also has some allergies and asthma but currently doesn't have to be on meds unless he gets an upper respiratory infection. He still seems to have bowel problems but he is so big that CF doesn't seem to fit.
Do you think it makes more sense to have my husband tested or my children tested? I have read that the DNA screen doesn't catch all the mutations so then I wonder if we will really know for sure.
Thanks
I just had a DNA screen for CF. It came back that I have one gene mutation and so I was told I am a carrier. My allergist had me tested b/c my peak flows and PFTs are on the low side and have gone down the last few years even though I am on various medicines. I haven't ever smoked and haven't ever lived with anyone who smoked. He also had me tested for alpha trypsin 1 and that is not a problem. I don't have CF in my family but my mom always said her family seemed to have weak lungs. My Grandma developed COPD (emphysema) even though she never smoked. My Grandpa smoked though. My aunt has had numerous bouts of pneumonia and now has BOOP. Anytime my mom gets anything upper respiratory she is wheezy and has to sleep sitting up etc. She has had pneumonia a few times also. My youngest brother was diagnosed with asthma as a child and still has problems. Another brother and I were diagnosed with asthma as adults and my other brother has had wheezing episodes but not many.
The allergist told me I may want to get my children tested for CF. The pediatrician said he would do it if I want but he thinks it makes more sense to have my husband tested to see if he is a carrier b/c if he isn't then our children would be fine. Our five children range in age from 3 to 21 and it seems like if they had CF we would have known by now. I was worried when our fourth one was a baby b/c he had really smelly bowel movements even though he was only breastfed and that didn't happen with the others. He also didn't gain weight very easily and was super skinny. He nursed and then ate like crazy and stayed skinny and then suddenly when he was almost 2 he started to grow really quickly and is now (at age 8) in the 75 to 95% for height and weight. He also has some allergies and asthma but currently doesn't have to be on meds unless he gets an upper respiratory infection. He still seems to have bowel problems but he is so big that CF doesn't seem to fit.
Do you think it makes more sense to have my husband tested or my children tested? I have read that the DNA screen doesn't catch all the mutations so then I wonder if we will really know for sure.
Thanks