I was tested when I was about 4 months pregnant with my son, I tested positive as a carrier, my husband tested neg. My son who is now 2 has had many problems with constipation, even been in the er for it, he had RSV when he was 1, and now they have dianosed him with asthma, I asked the dr. last wee about CF she said that if he is a carrier of CF he might show some syptoms of CF, has anyone heard of this happening? My son has always had thick mucous, a cough, bowel problems. I wonder if my husband should get tested again? Any help is appreciated!!!!
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Question? CF
- Thread starter lilcj823
- Start date
Welcome!
It is very possible that your husband was only tested for 30-40 of the most common mutations, instead of an extensive genetic test. You would probably know if he had the extensive testing done, because it is more expensive and there are more hoops you have to jump through than the standard testing. There are over a thousand mutations for cf.
Your son is the one who needs to be tested now. He would have needed to have more extensive genetic testing done through a company called Ambry (there are others). I would highly suggest that you get it done and a sweat test at a cf center would be a good idea as well. You can find a cf center at <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/
">http://www.cff.org/chapters_and_care_centers/
</a>Also, not all of the genes for cf have been identified. There are quite a few people who have cf and only gene identified. But they usually have a positive sweat test.
My nephew was diagnosed with cf at age four a few weeks after my infant daughter's diagnosis. His main symptom was constipation.
Pediatricians generally don't have a lot of knowledge about cf. It is best to see a pulomonolgost at a cf clinic to answer questions for you.
Sharon, mom of Sophia, 4 and Jack, 2 both with cf
It is very possible that your husband was only tested for 30-40 of the most common mutations, instead of an extensive genetic test. You would probably know if he had the extensive testing done, because it is more expensive and there are more hoops you have to jump through than the standard testing. There are over a thousand mutations for cf.
Your son is the one who needs to be tested now. He would have needed to have more extensive genetic testing done through a company called Ambry (there are others). I would highly suggest that you get it done and a sweat test at a cf center would be a good idea as well. You can find a cf center at <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/
">http://www.cff.org/chapters_and_care_centers/
</a>Also, not all of the genes for cf have been identified. There are quite a few people who have cf and only gene identified. But they usually have a positive sweat test.
My nephew was diagnosed with cf at age four a few weeks after my infant daughter's diagnosis. His main symptom was constipation.
Pediatricians generally don't have a lot of knowledge about cf. It is best to see a pulomonolgost at a cf clinic to answer questions for you.
Sharon, mom of Sophia, 4 and Jack, 2 both with cf
I would agree wholeheartedly with Sharon. Like you I am a carrier for Cf but my husband was told he was not a carrier. Our baby was born with CF and we only knew there was a possibility through the Guthrie test. She had a sweat test which confirmed it. It turns out my husband is a rare CF gene carrier which does not show up on the most common mutations test. They are still looking for his mutation. Get your child checked out by someone in the know and demand a sweat test. It can't harm, and will give you peace of mind.
Good luck!
Good luck!
My main concern is that my son shows so many sighns of CF, he has been on Miralax for about 6 months now, the dr. he has seen since he was about 3months old kept telling us that it was the cartiliage around his esophogus that was not fully developed, and that is why he made that sound when breathing, just last week I took him to an asthma specialist and she diagnosed him with asthma, he was on 5 different meds for about a week and let me tell ya a 2 year old on steriods was not fun!!!! He is doing much better now and he is only on an inhailer, singular, and rhinocourt nose spray, and albuteral breathing treatments twice a day. He still has this nasty sounding cough with a lot of phlem in his throat. I think I will make some calls tomorrow to check about getting him tested for my peace of mind. Thank you.
lilcj823
I just sent you a PM but I wanted to post something here too. Sounds classic CF symptoms, just as you say. Have you done a sweat test on him? If not, maybe that might be a good starting point??? But I would consider another genetic test for your husband, I personally recommend Quest but I have used Ambry myself before too.
Kep us posted on what you find out and any other questions, we're here to help!
I just sent you a PM but I wanted to post something here too. Sounds classic CF symptoms, just as you say. Have you done a sweat test on him? If not, maybe that might be a good starting point??? But I would consider another genetic test for your husband, I personally recommend Quest but I have used Ambry myself before too.
Kep us posted on what you find out and any other questions, we're here to help!
Ditto on Sharon's advice -- well said -- it would really be a good idea to get to a cf center and get full genetic testing -- you may need to get a little pushy to get your doctor to refer you but don't be shy! Your son will do far better if he is correctly diagnosed and treated.