Guest guest Posted August 28, 2003 Report Share Posted August 28, 2003 and I guess I need to wait to see the Pulmonologist tomorow since the report doesn't mean much to me. It looks like Zlata Tova may not have CF but while trying to do websearches I came across stories of other children with the same polymorphisms who were also symptompatic. I am just goint to retype what the report says if that is okay... " There were no known deleterious mutations detected and no novel variations detected. The results of this test indicate this patient was found to carry the 7T/7T poly T variation. The results of this test indicate the heterozygous presence of a previously described polymorphism, M470V (Kerem et al. 1990) on exon 10 of the CFTR gene. This polymorphism is not currently believed to be disease causing as reported in the Cystic Fibrosis Mutation Data Base complied by the Cystic Fibrosis Genetic Analysis Consortium but may contribute in unknown ways to the ultimate phenotype. Genetic counseling is recommended for this family and individual. " I take it this means she doesn't have CF. Does this mean she is a carrier? Is a polymorphism genetic? Did we pass it on to her and can she pass it on to her children? It looks like the M470V can cause male infertility? Will that be a concern for her male children? Probably I should pick all of your brains after I pick the pulmonologists brain tomorow, but I really want to go see him armed with information. FWIW My daughter is pancreatic insufficient and has been doing wonderfully on Creon. She is gaining and growing. She is finally at the 3% for both height and weight, after being off the charts for many years. She gained 7.5lbs in 6 months, and went from 24lbs at 4 years 9 months - when she started enzymes - to 31.5 lbs at 5 years 3 months. She is also asthmatic, and has been off and on inhaled steriods for years and responds well to them so nothing severe and her sweat test was boarderline. Thank you for any information you can give!! My head is spinning from trying to research and figure out what is going on. Liba, mommy to Zlata Tova 5/6/98 and Tziporah Faiga 1/12/01 Quote Link to comment Share on other sites More sharing options...
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