Hi,
My kids have the same two genes. We have an interesting road to diagnosis on both of them. Our daughter didn't show any symptoms until age 5, was misdiagnosed as "asthma" then correctly diagnosed at age 14. Her brother had no symptoms and we had him tested at age 18. For a while the doctor was on the fence about actually putting the diagnosis on him because I was concerned about insurance issues. We later went ahead and started using the diagnosis and by age 21 he was definitely showing symptoms and needed treatment.
You can read our story in more detail on my blog site here - our doctor did explain that the medical profession was pretty much split as to whether or not the CF diagnosis should be made without any symptoms, so you are probably simply getting that opinion - other doctors wouldn't think twice about putting the diagnosis out there.
You can take advantage of the time like others have mentioned and get a life insurance policy on your child - not to be morbid or negative (I'm assuming that your child has a very very good chance of living a full, healthy life well into his late adult years - there are many people now with the same gene combination who are in their 30's - 60's still doing quite well) but I mention the life insurance as something that you do for your child for when he is older - if (and most likely when) the diagnosis does have to be put on him, he will most likely have a hard time qualifying for it, so as future planning for his wife & kids, it might be nice to have a policy in place.
If you have any questions I'd be happy to answer them. I also know a few other adults with the same two gene mutations. There is one on this site her user name is Marcijo. She is married and has two small children - she is very healthy and had very little trouble with her pregnancies.
I'm sure you already have read too that the R117H is well known for its association with causing the lack of vas deferens in males. But in the world of CF, it is also know for pancreatic sufficiency - which plays a big part in helping those with this gene combination stay healthier than some because they able to get the nutrients that they need from their food.
My kids have the same two genes. We have an interesting road to diagnosis on both of them. Our daughter didn't show any symptoms until age 5, was misdiagnosed as "asthma" then correctly diagnosed at age 14. Her brother had no symptoms and we had him tested at age 18. For a while the doctor was on the fence about actually putting the diagnosis on him because I was concerned about insurance issues. We later went ahead and started using the diagnosis and by age 21 he was definitely showing symptoms and needed treatment.
You can read our story in more detail on my blog site here - our doctor did explain that the medical profession was pretty much split as to whether or not the CF diagnosis should be made without any symptoms, so you are probably simply getting that opinion - other doctors wouldn't think twice about putting the diagnosis out there.
You can take advantage of the time like others have mentioned and get a life insurance policy on your child - not to be morbid or negative (I'm assuming that your child has a very very good chance of living a full, healthy life well into his late adult years - there are many people now with the same gene combination who are in their 30's - 60's still doing quite well) but I mention the life insurance as something that you do for your child for when he is older - if (and most likely when) the diagnosis does have to be put on him, he will most likely have a hard time qualifying for it, so as future planning for his wife & kids, it might be nice to have a policy in place.
If you have any questions I'd be happy to answer them. I also know a few other adults with the same two gene mutations. There is one on this site her user name is Marcijo. She is married and has two small children - she is very healthy and had very little trouble with her pregnancies.
I'm sure you already have read too that the R117H is well known for its association with causing the lack of vas deferens in males. But in the world of CF, it is also know for pancreatic sufficiency - which plays a big part in helping those with this gene combination stay healthier than some because they able to get the nutrients that they need from their food.