Symptomatic Carrier

[UKBASEDJON]

Hi All

Over the years I have heard of much research about whether carriers of the CF mutation can exhibit symptoms of CF. There does seem to be connections to parents and thier own health problems and CF. But as far as I know none of the studies have proved a positive link. It does make sense though doesn't it. As you inherit 2 sets of genes from your parents if one is missing then it only takes the other to play up to cause mild symptoms.

As far as the sweat test goes I never proved positive when I was young on the Sweat test. In fact it was only when the genetic testing came along that I could be accurately diagnosed. I have been symptomatic all my life and hence have been treated as a CF patient since 3 months, but only been diagnosed since I was 27. Both Delta 508 as a matter of fact.

Regards

Jon

 

[anonymous]

my son has CF, I do not. I've never heard of a symptomatic carrier but am interested on knowing more. I have Crohn's disease, its a serious digestive disease. I have had pancreatitis, blockages, my gallbladder was removed. I have had pancreatitis many, many times, it is very rare to have pancreatitis involvement with Crohn's, but it does exist. I was even given pancreatic enzymes with my food and it did wonders. I have never had lung problems except for mild asthma. Should I get tested? could I be a symptomatic carrier? It sure would explain a lot.

 

[MasonsMom]

Our son was diagnosed strictly based on his DNA testing. It involved a test for the most common mutations, then an expanded test for all 1200 indentifiable mutations, and then there was a DNA test done on both my husband and myself. We have been going to see Dr. Bray in Midland, TX. He is very hopeful that with the information he gains from my son and my husband, they will be able to answer more questions as to the carriers of CF also having health problems related to the disease. Unfortunately my husband is not on insurance right now, but we are going to try and get him insured asap so that Dr. Bray can get more studies done on him. We want to do anything we can to help not only our situation, but others who may be suffering the same. We did do the sweat test on Mason, and he was considered borderline. We hope to get one done on my husband soon. If anyone would like to ask me more questions or just want to talk, please feel free to email me at velvethardy@sbcglobal.net.


Velvet

 

[allie1]

My daughter has CF and my mom has Chrohn's Disease. It seems curious that I have seen a lot of people mention Chrohn's on this board. Could it be related somehow? I guess my mom is most likely the carrier of the CF gene?