Tuesday, June 22, 2010

Square peg

I read this article today about cystic fibrosis and I could so identify! I am one of the square pegs of cystic fibrosis, I don't fit the classic form of CF and like Laura, I was diagnosed as an adult. I have one gene that is delta F508 (very common in CF) and the other one is so rare, there are only about 20 other people that have been identified with it by Ambry genetics. Even though I have gotten sick with pneumonia, bronchitis and sinus infections ever since I was a baby, I know I'm very fortunate! I think the more they find out about CF, the more complicated they are finding it to be. The geneticist at my clinic is trying to find out more information on those other people with my same gene to follow them. Some are pancreatic insufficient, some are sufficient like me. They have found that there are other things that factor into it, like where on the CFTR gene your mutation is, and some things are just still a mystery. For example, 2 siblings could have exactly the same two CF gene mutations...one could die in childhood, the other one could live well into adulthood. It's just too complicated for my little brain, but I also find it very interesting! All I know is that like Laura in the article (and I've been in touch with her by email), I'm doing sooooo much better since I've been on all the CF medicines, nebs, inhalers, vest, etc. My PFT's (lung function) have stayed at 50% since my last IV's. It takes time and effort, but it's so worth it!


Colleen said...

How did you feel about this statement in the article?

"It's not really mild CF, it's delayed CF,"

I have mild CF and I have alway felt a comfort that as long as I take care of myself, I will live a long, healthy life. But after this article, I don't feel like I have that security. Like, CF will catch up with me someday.

Aspiemom said...

I don't think there is mild CF or delayed CF. I think all forms of CF hit you strongly at different times in your life. Some suffer a lot from birth, some of us our symptoms get worse as we age.

I have the Delta F508 gene and then a mutated one and was dx as an adult, but it's "caught up with me" now!