I was just looking things up on the forum and I came across your post from 2006! Figured even though it's been YEARS, I'd still respond! Yes, I have the Y1092X and 621+1G>T mutations. I'm 24 years old and quite healthy! I actually just got married and so far married life is great, and I've been able to keep up with all my treatments! I hope your son is doing well!
Hello, my 9 month old son has both f508del and y1092x and I was wondering if those of you that have children with these mutations, could be a little more specific about how your children are doing? My son is doing well. We have seen no evidence of pulmonary deficiency to this point. No chronic cough, or wheezing, etc. He did swab positive for pseudomonas once at about 7 months old. His pancreatic deficiency is apparent as he is a bit on the smaller side and had abnormal stool color and texture before he was diagnosed and placed on an enzyme regimen. Since there is not a whole lot of data on his specific mutations, I would like to know how you or your child is doing and at what ages have there been any noticeable changes in overall health, and more specifically, lung function. It seems like in most cases of (that I have personally heard about or read about) that lung issues usually develop quite early. Thank you in advance for your input.
I know this is years later but just saw this. I have a 15 year old with the same combination. She is doing great and actually doesn't have any pulmonary issues but does have the digestive. She started Trikafta a couple years ago and has done really well on it. Gained a lot of weight to where she is now 50th percentile and then also no colds since starting. I hope your son is still doing well!