Hi Steve,
I have an 8 month old Gracie, who was diagnosed in NJ with the newborn screening. We knew it ran in my husband's family not ours. My other 2 kids and I were tested at Children's Hospital of Philadelphia. My daughter was positive sweat test at the age of 9 yrs old, my son was negative and I was boderline at 54-55 sweat test. My two daugters have DF508 and R117h w/5T. My oldest has more milder asthma, allergies, bronchitis and is pancreatic suffient. My youngest has been hospitalized a few times already and is pancreatic insuffient. I know that cf can be a varying disease, but with both of them having the same genes(same father) how can they be so different? Is there a book or articles that talk more about the different mutations and the varying degrees of problems that sometimes occur?
I did go to Penn Lung Center because my daugter's doctor at CHOP strongly encouraged me to go. I do have symptoms of cf but I am a relativly healthy person at the age of 32. They want me to get life insurance before I get a full blood panel. They do want me to get my Dad's blood screened to see if he has a rare mutation, as we know my Mom has the r117h gene. If they don't find any mutation from my Dad should I just assume that I definitly don't have cf? Thanks for your time. It is beyond kind of you to take the time to answer all these questions.
Thanks,
Megan- Mom of
Caity- 10ys old with cf
Mike- 8yrs old without cf
Gracie- 8 months with cf DF508 & R117H 5T