W
wingnut
Guest
Hi,
I have three boys with that same mutation. We had no family history, so it was a huge surprise. Our oldest was diagnosed at 13, because of a cough that persisted despite inhalers. The other were then tested, even though they were symptom free, and were diagnosed at ages 6 and 9. That was three years ago. They are all pancreas sufficient, so are growing great without enzymes. My 16-year-old is 5'9" and 130 lbs. All of their PFT's are above 100%. One runs track and competes in martial arts, one plays hockey and baseball, and the other plays hockey, baseball, and football. We do maintenance medication daily and see our docs every three months.
Typically A455E is associated with a milder phenotype, and is often pancreas sufficient. That's why my kids were diagnosed so late. They did not have that "failure to thrive" thing, and they had little or no lung issues. Praise God.
My goal is to prevent any lung damage until a cure comes along. With their level of activity, I don't think that should be a problem!
Best of luck with your little one!
I have three boys with that same mutation. We had no family history, so it was a huge surprise. Our oldest was diagnosed at 13, because of a cough that persisted despite inhalers. The other were then tested, even though they were symptom free, and were diagnosed at ages 6 and 9. That was three years ago. They are all pancreas sufficient, so are growing great without enzymes. My 16-year-old is 5'9" and 130 lbs. All of their PFT's are above 100%. One runs track and competes in martial arts, one plays hockey and baseball, and the other plays hockey, baseball, and football. We do maintenance medication daily and see our docs every three months.
Typically A455E is associated with a milder phenotype, and is often pancreas sufficient. That's why my kids were diagnosed so late. They did not have that "failure to thrive" thing, and they had little or no lung issues. Praise God.
My goal is to prevent any lung damage until a cure comes along. With their level of activity, I don't think that should be a problem!
Best of luck with your little one!