Trying to find answers

Cecemtz

New member
Hi, my name is Cece, Im a mother of 5 amazing little boys, It wasn't until recently when we had our last baby that we knew my husband is a carrier for CF mutated gene 3849+10kbC-T and passed it to our newest baby. The moment I got the call from the state telling me his results for the newborn screen came back abnormal and he needed to to be taken to a CF center for a sweat test, my heart sank to the pit of my stomach, we were shocked as neither of us have a family history that we knew of for CF. The wait between that phone call and the day for the appointment was the most agonizing time in my life, I just wanted to know one way or another so i could do whatever i could for him, literally a day after I recieved that phone call he became very congested so you can imagine what was going through my head. I researched and researched CF until finally the day came a whole 6 weeks later, he had his sweat test and turns out he was just a carrier, he only had one mutation 3849+10kbC-T. I was so relieved but I knew at this time my husband had to be the one who passed him the mutated gene because I was tested in my pregnancy specifically for that mutation and I am not a carrier. So now we need to get my husband confirmed. He gets the blood work done for the most common 97 CF mutations and just as we suspected he has one copy of the 3849+10kbC-T gene. But now I found myself back at that same agonizing place waiting for the day to arrive, when my husband goes into a CF center to figure out if he is in fact just a carrier or ifnhe has the disease. Heres a little background on my husband, he is 34 years old, born in mexico, soccer player his entire life until recently so he was pretty active.when he was a young child from the age of around 4/5 all the way throught age 14 he suffered from sever constipation and at which the cell is his rectum died and he had surgery and has been fine with that ever since, back in 2008 he was had a surgery on his kidney- a surgical fixation of the renal pelvis; basically the tube that connects his bladder to his kidney, where connected to the kidney the tube was to small and thus was very susppetable to blockage. Once the surgery from that was over he was healthy no problems. from that point up until about 4-5 years ago he has been dx with asthma, chronic sinusitis, and allergies. He sees an ENT reguraly and has had 3 nose surgeries twice for nasal polyps and once for devaited septum, and is due for another polyp removal as they have came back again. He has had bronchitis once 2 years ago but no other infections since then. He has been gaining weight recently he has went from 170 to 200 onnthe past 6 months proly because he is no long playing soccer. His ENT as soon as he found out about my husbands carrier status he set up everything for my husband to be seen at a CF clinic. He has not said it but apparently he has reason to believe my husband may have CF. Has anyone else had something similar happen to them? What was the out come? Opinions please! Also my husband has never had a sweat test, and if he has CF all of our kids would be carriers correct? So far only our last baby is a carrier. Ive asked their pediatrician if he could send us to the lab for blood work on all of them and he told me as long as they were born in the US they were tested at birth and there is no need to for them to be tested, Ive asked him on numerous occasions and he refuses, Is this something I should push or just let it go because they have already been tested.?
 

jaimers

Super Moderator
I'm sure this is all so overwhelming especially with a new baby but I'm so glad to hear that your husband is being tested. If he does end up having cf it is probably a more rare mutation and not one that is part of the newborn screenings so it wouldn't show your other kids as carriers. There are over 1500 gene mutations that can cause cf so only testing for the most common 97, though usually the test they try first, leaves A LOT of mutations out there that he might have. Getting to an approved cf center is the best thing for you all and they should be able to do more extensive testing to determine if your husband does have cf and provide helpful info about your kids. Keep us updated!
 

Cecemtz

New member
I'm sure this is all so overwhelming especially with a new baby but I'm so glad to hear that your husband is being tested. If he does end up having cf it is probably a more rare mutation and not one that is part of the newborn screenings so it wouldn't show your other kids as carriers. There are over 1500 gene mutations that can cause cf so only testing for the most common 97, though usually the test they try first, leaves A LOT of mutations out there that he might have. Getting to an approved cf center is the best thing for you all and they should be able to do more extensive testing to determine if your husband does have cf and provide helpful info about your kids. Keep us updated!

Thank you for responding, It is quite overwhelming, up until February of this year I had no idea what CF was, its alot to take in. I just do not know what to expect and waiting and waitung not knowing is the hardest part for me. I will definitely keep updating as we go through the process.
 
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