Confused and Frustrated

ByGrace · Nov 30, 2011

For a quick recap on our situation: My son suffers from chronic constipation with NO lung involvement at all, but this one symptom prompted his GP to test him for CF. Two mutations were found, DF508 and 5T/ 12 TG. We were sent to a pulmonologist at an accredited CF center who ordered a sweat test and ran a few lung tests and a sputum culture. The sweat test came back at 38, the lung tests were all normal, and the sputum cultured a few things, but nothing that the doctor seemed to think was unusual. She didn't think that the constipation was related at all and said that since he doesn't have any symptoms, and the sweat test was negative, that he won't have any problems. She even suggested that his mutations might be on the same chromosome & that he's only a carrier. We went through further family testing and found that he does have the mutations on different chromosomes. So now I'm confused. His sweat test was negative, but he has the mutations, so he does have CF, right? Also, he still suffers with constipation and I'm not convinced that it's not related. Does CF related constipation have certain characteristics? I know that CF is progressive and that he could develop symptoms at any time. Should I insist on him being seen at regular intervals, or just wait until symptoms develop? Sorry for being long-winded; I appreciate any advice!

ByGrace · Nov 30, 2011

For a quick recap on our situation: My son suffers from chronic constipation with NO lung involvement at all, but this one symptom prompted his GP to test him for CF. Two mutations were found, DF508 and 5T/ 12 TG. We were sent to a pulmonologist at an accredited CF center who ordered a sweat test and ran a few lung tests and a sputum culture. The sweat test came back at 38, the lung tests were all normal, and the sputum cultured a few things, but nothing that the doctor seemed to think was unusual. She didn't think that the constipation was related at all and said that since he doesn't have any symptoms, and the sweat test was negative, that he won't have any problems. She even suggested that his mutations might be on the same chromosome & that he's only a carrier. We went through further family testing and found that he does have the mutations on different chromosomes. So now I'm confused. His sweat test was negative, but he has the mutations, so he does have CF, right? Also, he still suffers with constipation and I'm not convinced that it's not related. Does CF related constipation have certain characteristics? I know that CF is progressive and that he could develop symptoms at any time. Should I insist on him being seen at regular intervals, or just wait until symptoms develop? Sorry for being long-winded; I appreciate any advice!

ByGrace · Nov 30, 2011

For a quick recap on our situation: My son suffers from chronic constipation with NO lung involvement at all, but this one symptom prompted his GP to test him for CF. Two mutations were found, DF508 and 5T/ 12 TG. We were sent to a pulmonologist at an accredited CF center who ordered a sweat test and ran a few lung tests and a sputum culture. The sweat test came back at 38, the lung tests were all normal, and the sputum cultured a few things, but nothing that the doctor seemed to think was unusual. She didn't think that the constipation was related at all and said that since he doesn't have any symptoms, and the sweat test was negative, that he won't have any problems. She even suggested that his mutations might be on the same chromosome & that he's only a carrier. We went through further family testing and found that he does have the mutations on different chromosomes. So now I'm confused. His sweat test was negative, but he has the mutations, so he does have CF, right? Also, he still suffers with constipation and I'm not convinced that it's not related. Does CF related constipation have certain characteristics? I know that CF is progressive and that he could develop symptoms at any time. Should I insist on him being seen at regular intervals, or just wait until symptoms develop? Sorry for being long-winded; I appreciate any advice!

Mommafirst · Dec 1, 2011

This is a good question for a geneticist, really. From what I understand, the 5T is not a mutation but a variant. So its not the same as having 2 clear CF mutations, but the combination of the delta mutation and the 5T can produce CF. I just don't know if its a 100% of the time kind of thing or not.

I'd suggest either brining in a geneticist or considering going to a CF specialist that is familiar with the impact of variants.

Mommafirst · Dec 1, 2011

This is a good question for a geneticist, really. From what I understand, the 5T is not a mutation but a variant. So its not the same as having 2 clear CF mutations, but the combination of the delta mutation and the 5T can produce CF. I just don't know if its a 100% of the time kind of thing or not.

I'd suggest either brining in a geneticist or considering going to a CF specialist that is familiar with the impact of variants.

Mommafirst · Dec 1, 2011

This is a good question for a geneticist, really. From what I understand, the 5T is not a mutation but a variant. So its not the same as having 2 clear CF mutations, but the combination of the delta mutation and the 5T can produce CF. I just don't know if its a 100% of the time kind of thing or not.

I'd suggest either brining in a geneticist or considering going to a CF specialist that is familiar with the impact of variants.

SarahProcter · Dec 1, 2011

I echo the call to talk this over with a geneticist. One thing I would add: I'm not sure that I'd be so quick to call a 38 sweat test definitively negative. My daughter, who DOES have two known mutations and does have CF, had a 37 sweat test.

So sorry that you have to deal with this uncertainty! I hope that it all turns out well and not CF!

SarahProcter · Dec 1, 2011

I echo the call to talk this over with a geneticist. One thing I would add: I'm not sure that I'd be so quick to call a 38 sweat test definitively negative. My daughter, who DOES have two known mutations and does have CF, had a 37 sweat test.

So sorry that you have to deal with this uncertainty! I hope that it all turns out well and not CF!

SarahProcter · Dec 1, 2011

I echo the call to talk this over with a geneticist. One thing I would add: I'm not sure that I'd be so quick to call a 38 sweat test definitively negative. My daughter, who DOES have two known mutations and does have CF, had a 37 sweat test.

So sorry that you have to deal with this uncertainty! I hope that it all turns out well and not CF!

CJPsMom · Dec 1, 2011

While I don't know anything about the mutations, I do know that you should completely throw out the sweat test information as it's basically useless. I've been communicating with another CF mom who thought she was in the clear because of the negative sweat test...came back as a double D508Del. So, the sweat test can help indicate CF, but doesn't negate it. Good luck in getting the information you need. I can't imagine how frustrating this must be!

CJPsMom · Dec 1, 2011

While I don't know anything about the mutations, I do know that you should completely throw out the sweat test information as it's basically useless. I've been communicating with another CF mom who thought she was in the clear because of the negative sweat test...came back as a double D508Del. So, the sweat test can help indicate CF, but doesn't negate it. Good luck in getting the information you need. I can't imagine how frustrating this must be!

CJPsMom · Dec 1, 2011

While I don't know anything about the mutations, I do know that you should completely throw out the sweat test information as it's basically useless. I've been communicating with another CF mom who thought she was in the clear because of the negative sweat test...came back as a double D508Del. So, the sweat test can help indicate CF, but doesn't negate it. Good luck in getting the information you need. I can't imagine how frustrating this must be!

JENNYC · Dec 1, 2011

This is not my area at all, but I've been reading on here a long time, and I would almost want the "poop" test ( i forget what yall call it, my daughter has never had one) and for his vitamin levels to be checked to see if he is digesting properly. I do know that Abby would get constipated some before we found out what was going on, of course she would go the other direction more often than constipation. Just a thought, what does everyone else think?

JENNYC · Dec 1, 2011

This is not my area at all, but I've been reading on here a long time, and I would almost want the "poop" test ( i forget what yall call it, my daughter has never had one) and for his vitamin levels to be checked to see if he is digesting properly. I do know that Abby would get constipated some before we found out what was going on, of course she would go the other direction more often than constipation. Just a thought, what does everyone else think?

JENNYC · Dec 1, 2011

This is not my area at all, but I've been reading on here a long time, and I would almost want the "poop" test ( i forget what yall call it, my daughter has never had one) and for his vitamin levels to be checked to see if he is digesting properly. I do know that Abby would get constipated some before we found out what was going on, of course she would go the other direction more often than constipation. Just a thought, what does everyone else think?

JustDucky · Dec 1, 2011

Definitely talk to the geneticist, I also don't think it would be a bad idea to have him followed. He's very young now, but things could pop up later in life. Everyone presents differently with symptoms, some people who have the same genetic combo as your son present just like a classic CF'er, while others have few symptoms. With this in mind, it is important that his lung functions are followed, along with vitamin levels, weight etc and sputum cultures to catch things early so that he gets early and appropriate treatment before it turns into something harder to treat. If your current doctor disagrees, see another one. Even if he is followed a few times a year rather than the usual every 3 months that's still better than not being followed.
I agree, the sweat test is a moot point as your son does have a CF variant. As many people on this site can tell you, there are people out there with negative sweat tests who still have CF. I am also in the borderline range in the low 50's last time I was checked. Technically I am not in the positive range yet I have CF.

Good luck,
Jenn 39 w/CF

JustDucky · Dec 1, 2011

Definitely talk to the geneticist, I also don't think it would be a bad idea to have him followed. He's very young now, but things could pop up later in life. Everyone presents differently with symptoms, some people who have the same genetic combo as your son present just like a classic CF'er, while others have few symptoms. With this in mind, it is important that his lung functions are followed, along with vitamin levels, weight etc and sputum cultures to catch things early so that he gets early and appropriate treatment before it turns into something harder to treat. If your current doctor disagrees, see another one. Even if he is followed a few times a year rather than the usual every 3 months that's still better than not being followed.
I agree, the sweat test is a moot point as your son does have a CF variant. As many people on this site can tell you, there are people out there with negative sweat tests who still have CF. I am also in the borderline range in the low 50's last time I was checked. Technically I am not in the positive range yet I have CF.

Good luck,
Jenn 39 w/CF

JustDucky · Dec 1, 2011

Definitely talk to the geneticist, I also don't think it would be a bad idea to have him followed. He's very young now, but things could pop up later in life. Everyone presents differently with symptoms, some people who have the same genetic combo as your son present just like a classic CF'er, while others have few symptoms. With this in mind, it is important that his lung functions are followed, along with vitamin levels, weight etc and sputum cultures to catch things early so that he gets early and appropriate treatment before it turns into something harder to treat. If your current doctor disagrees, see another one. Even if he is followed a few times a year rather than the usual every 3 months that's still better than not being followed.
I agree, the sweat test is a moot point as your son does have a CF variant. As many people on this site can tell you, there are people out there with negative sweat tests who still have CF. I am also in the borderline range in the low 50's last time I was checked. Technically I am not in the positive range yet I have CF.

Good luck,
Jenn 39 w/CF

anien2 · Dec 1, 2011

how about another sweat test?? have you repeated it??? maybe the first one was wrong, that happened with my kid the first time he did the test.

anien2 · Dec 1, 2011

how about another sweat test?? have you repeated it??? maybe the first one was wrong, that happened with my kid the first time he did the test.

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