atypical form of cf diagnosis
- Thread starter jabug8
- Start date
When you are dealing with CF if you don't have one of the main mutations then you fall into a pretty small percentage. I read you last post and it said your daughter has a 5t variant, and another mutation. What is the other mutation? There are several on this forum that have opened my eyes to the many flavors that CF can come in. There are some atypical CF folk that are in there 60s or 70s. Or other that didn't get diagnosed until later adulthood. Or some with strange symptoms. When you are dealing with CF you kind of hope that you are atypically mild or atypically resillient or atypically responsive to medicine. I hope for the sake of your daughter, her brand of atypical is the kind that leads to few symptoms and a very long and very normal life. How is she doing? And how are you dealing with things?
They did full gene test and found the 5t allele. Right now thats the knly thing they found. They did another gene test to look for another mutation or a partial mutation which ive never beard of either. Her dr has on all her records that she has a an atypical form of cf. She met with her ent yesterday about having surgery and she started with hoe she is atypical cf and because of that they need to take extra precautions under antithesia. Just threw me by surprise because its all news to me. As of 2 weeks ago it was just the 5t allele. I have no clue what im dealing with aith allele and genes and all this. Im doing ok. Ive been dealing with this since oct. Ive come to terms to expect the worse. If i do that im prepared. Just want answers for my little girl. Ive so many questions not sure where to turn. She doing good given the issues. Such a happy little girl.
Simba15
Member
Yes. There are 124 people in the world with my mutation combination. I am atypical
I would question how many mutations for which your DD was tested. There are almost 2000 known mutations. Because of insurance limitations, they generally start with a small number like 250. If she hasn't had a FULL CF SEQUENCING, then I would push for additional testing.
Bill
Bill
A friend of a friend's son was told he had atypical CF -- regular mutation with a similar variant. Assume it was labeled as such because he had such a rare mutation because he is very symptomatic -- sinus issues, pancreatic insufficiency, cultures typical cf bugs, uses a vest, has an asthma component....