R
reedfamily07
Guest
This may be kind of long, so thank you for reading.
My name is Karen and my 17 month old son may have CF. In the middle of our move to Alaska (husband is military) we were told that my son carries a Delta F508 mutation. He has had chronic diarrhea since he was 11 months old, he has not gained any weight, and he has not grown any either. Our physician feels certain that our son carries one major CF mutation and a minor mutation. He has pancreatic insuffiency although it is mild. He has had two sweat tests done and we were told they were on the borderline results which could not be ignored. He wanted the full genetic sequencing done to determine if he does infact carry a second minor mutation.
Now that we're dealing with a new physicial he is refusing to do the sequencing. He feels certain that our child doesn't have CF because he doesn't present like a classic CF patient. I know he isn't a classic CF patient but they are not eliminating the possibility that his GI problems could be caused by a minor mutation. I am so stuck and frustrated and scared for my child. He has been hospitalized 3 times in his very young life because of this and we are getting nowhere fast.
Please does anyone have any advice for me? I am waiting on the results of my genetic screen due to my pregnancy. We are living in Alaska and the closest CF facility is over 400 miles away. I don't know where to turn and what to do next for the sake of my child. Thank for reading this, and thank you in advance for any advice you may have.
My name is Karen and my 17 month old son may have CF. In the middle of our move to Alaska (husband is military) we were told that my son carries a Delta F508 mutation. He has had chronic diarrhea since he was 11 months old, he has not gained any weight, and he has not grown any either. Our physician feels certain that our son carries one major CF mutation and a minor mutation. He has pancreatic insuffiency although it is mild. He has had two sweat tests done and we were told they were on the borderline results which could not be ignored. He wanted the full genetic sequencing done to determine if he does infact carry a second minor mutation.
Now that we're dealing with a new physicial he is refusing to do the sequencing. He feels certain that our child doesn't have CF because he doesn't present like a classic CF patient. I know he isn't a classic CF patient but they are not eliminating the possibility that his GI problems could be caused by a minor mutation. I am so stuck and frustrated and scared for my child. He has been hospitalized 3 times in his very young life because of this and we are getting nowhere fast.
Please does anyone have any advice for me? I am waiting on the results of my genetic screen due to my pregnancy. We are living in Alaska and the closest CF facility is over 400 miles away. I don't know where to turn and what to do next for the sake of my child. Thank for reading this, and thank you in advance for any advice you may have.