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Sunday, May 19, 2013
Inherited Disorders and Birth Defects
"Sister" disease for Cystic Fibrosis
My daughter is living with her boyfriend. He recently mentioned that he was born with a "sister" disease of cystic fibrosis. His mother was a chain smoker and the boyfriends` lungs were somehow compromised when he was born. He has stated that he is well and does not have CF but had a related condition when he was born. He is 35 and looks thin and his posture appears slightly bent forward. He has a bit of a pot belly but his limbs and torso look thin as though undernourished. He is into scuba diving, car racing, skiing etc so appears to be active. My daughter is a smoker and he is adamant that she should stop smoking if not for herself then for any children which may be planned. I totally agree with this. My question would relate to the sister disease component as CF is by all accounts a serious disease.
I am not aware of a "sister" disease to cystic fibrosis. However, children with other types of airway diseases (diseases that affect the lungs and airway passages) such as asthma, chronic bronchitis, and recurrent pneumonia can have some similar features as those seen in cystic fibrosis.
Smoking during pregnancy has been shown to lead to low birthweight due to poor growth before birth, to problems with the placenta and to preterm delivery (being born before 37 weeks of gestation). All of these things put babies at an increased risk of serious health problems during the newborn period and potentially chronic lifelong disabilities (such as cerebral palsy, learning problems and mental retardation). Research has also shown that babies whose mothers smoke are at an increased risk for cleft lip and cleft palate.
I highly recommend that your daughter stop smoking for herself, certainly if she becomes pregnant as well as for her boyfriend’s health. I would also recommend that your daughter and her boyfriend talk to their doctors about finding out if he does have a specific diagnosis so that they can obtain information about how this might affect any children they may have in the future.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University