Anjanetteopal:
Two of my four children have CF-like symptoms that are mild enough that the doctor was hesitant to suggest CF. However, it runs in my family and my husband and I were getting genetic testing done for other things, so we check for CFTR mutations.
I have 444delA, and he has 444delA as well as 1288insTA.
I’ve found both of them here:
http://cftr2.org/mutation/scientific/444delA
http://cftr2.org/mutation/scientific/1288insTA
But the thing is that I haven’t found info about them hardly anywhere else, so they must be some of the rarer/newer mutations? I’m pretty sure my doctor probably already thinks I’m a hypochondriac with how relentless I’ve been trying to find a cause for my kid’s symptoms. I’m almost hesitant to bring this to him.
If we do the standard sweat test, are they going to show up borderline and then I’ll seem even crazier for asking for genetic testing?
I guess I want to make sure this is something I really need to pursue. Is it possible I’m missing something and us being carriers of these doesn’t mean the kids could have CF? Also, does my husband have CF with both of those mutations??
Ratotosk responds:
Being that your children are having cf-like symptoms and you’re a carrier and your husband has cf (two mutations)??? or is a carrier,??? IMO push for testing. It’s my understanding that the first step in getting more in-depth genetic testing is the sweat test — AT AN ACCREDDITTED CF FACIILTY. And really if you as a parent feel there is something wrong with your child(ren), you want to get to the bottom of it and at the very least treat the symptoms.
anjanetteopal:
Are sweat tests easy to mess up? I assumed any error would just be that we were negative but still had CF and lower chloride levels because our mutation was mild. My PCP is wonderful – hasn’t discouraged me from testing or trying to get to the bottom of things. We’ve just done so many tests that I’m starting to feel a bit crazy. My daughter just had a full work up with the “usual” blood tests and exams (CBC, Chem 7, urinalysis, checked for blood in stool), and everything came back fine. None of those tests really test for things that are CF-specific, though. Now I’ll be going back to say, um… one more test? And maybe for all my children?
ERin:
f I were you I would skip the sweat testing and just have each of your children checked for those specific mutations. It’s a simple blood draw made even simpler since they know exactly what they are looking for. Your normal physician can order that test. At which point if any of your children do show to carry 2 mutations you would then need to most definitely move on to care at a CF clinic.
Also – I just want to say that you are very justified in asking for the genetic testing with or without symptoms as you know that you and your husband are both carriers.
I found out my husband and I were both carriers during my second pregnancy and my older son’s pediatrician thought it was completely logical to go ahead and do the genetics test on my older son just to be positive. I remember her telling me, “if it were my child, I would want to be 100% sure.” She was very supportive of my request. I would truly recommend it. It’s the only way to be certain and I think even if they all end up being negative it’s worth knowing because otherwise you’ll always have doubt….
Anjanetteopal:
Thanks.
I put in a call to my doctor and we’ll see what he says. Hopefully I will be able to bypass the appointment and go right to the lab for whatever we need. Then I won’t feel like I’m wasting his time with another theory.
We’ve really been to just about every specialist in town at this point and they chalk it all up to weird things that happen to children randomly.
(symptoms for one child are chronic rhinitis that leads to throat clearing and lingering coughs and persistant all-over stomach pain. The other isn’t even on the growth curve for weight, has stomach aches, clears his throat, and has had “glue ear” for 9 months without resolution. Our other two children have no noticeable symptoms.)
Ratatosk:
The CFF stresses having sweat tests done at an accredited cf facility; however, a friend of mine’s daughter was tested at the local clinic to “rule out cf” and the results were off the chart. So they were able to get additional testing. Sometimes doctors are hesitant to order genetic testing because of costs involved, so you have to “play the game” and go thru their steps. If you can get them to test for those genes that would be awesome!!
Based on symptoms, have they every done a fecal fat test to see if there is malabsorption/pancreatic insufficiency? Have they run any CF cultures to see if they’re culturing any common cf bugs such as pseudomonas or steno maltophilia? Things that a normal person wouldn’t necessarily culture. My child has a different mutation; however, his symptoms are mainly sinus and digestive. Does your husband have any symptoms with his two genes?
Two of my four children have CF-like symptoms that are mild enough that the doctor was hesitant to suggest CF. However, it runs in my family and my husband and I were getting genetic testing done for other things, so we check for CFTR mutations.
I have 444delA, and he has 444delA as well as 1288insTA.
I’ve found both of them here:
http://cftr2.org/mutation/scientific/444delA
http://cftr2.org/mutation/scientific/1288insTA
But the thing is that I haven’t found info about them hardly anywhere else, so they must be some of the rarer/newer mutations? I’m pretty sure my doctor probably already thinks I’m a hypochondriac with how relentless I’ve been trying to find a cause for my kid’s symptoms. I’m almost hesitant to bring this to him.
If we do the standard sweat test, are they going to show up borderline and then I’ll seem even crazier for asking for genetic testing?
I guess I want to make sure this is something I really need to pursue. Is it possible I’m missing something and us being carriers of these doesn’t mean the kids could have CF? Also, does my husband have CF with both of those mutations??
Ratotosk responds:
Being that your children are having cf-like symptoms and you’re a carrier and your husband has cf (two mutations)??? or is a carrier,??? IMO push for testing. It’s my understanding that the first step in getting more in-depth genetic testing is the sweat test — AT AN ACCREDDITTED CF FACIILTY. And really if you as a parent feel there is something wrong with your child(ren), you want to get to the bottom of it and at the very least treat the symptoms.
anjanetteopal:
Are sweat tests easy to mess up? I assumed any error would just be that we were negative but still had CF and lower chloride levels because our mutation was mild. My PCP is wonderful – hasn’t discouraged me from testing or trying to get to the bottom of things. We’ve just done so many tests that I’m starting to feel a bit crazy. My daughter just had a full work up with the “usual” blood tests and exams (CBC, Chem 7, urinalysis, checked for blood in stool), and everything came back fine. None of those tests really test for things that are CF-specific, though. Now I’ll be going back to say, um… one more test? And maybe for all my children?
ERin:
f I were you I would skip the sweat testing and just have each of your children checked for those specific mutations. It’s a simple blood draw made even simpler since they know exactly what they are looking for. Your normal physician can order that test. At which point if any of your children do show to carry 2 mutations you would then need to most definitely move on to care at a CF clinic.
Also – I just want to say that you are very justified in asking for the genetic testing with or without symptoms as you know that you and your husband are both carriers.
I found out my husband and I were both carriers during my second pregnancy and my older son’s pediatrician thought it was completely logical to go ahead and do the genetics test on my older son just to be positive. I remember her telling me, “if it were my child, I would want to be 100% sure.” She was very supportive of my request. I would truly recommend it. It’s the only way to be certain and I think even if they all end up being negative it’s worth knowing because otherwise you’ll always have doubt….
Anjanetteopal:
Thanks.
(symptoms for one child are chronic rhinitis that leads to throat clearing and lingering coughs and persistant all-over stomach pain. The other isn’t even on the growth curve for weight, has stomach aches, clears his throat, and has had “glue ear” for 9 months without resolution. Our other two children have no noticeable symptoms.)
Ratatosk:
The CFF stresses having sweat tests done at an accredited cf facility; however, a friend of mine’s daughter was tested at the local clinic to “rule out cf” and the results were off the chart. So they were able to get additional testing. Sometimes doctors are hesitant to order genetic testing because of costs involved, so you have to “play the game” and go thru their steps. If you can get them to test for those genes that would be awesome!!
Based on symptoms, have they every done a fecal fat test to see if there is malabsorption/pancreatic insufficiency? Have they run any CF cultures to see if they’re culturing any common cf bugs such as pseudomonas or steno maltophilia? Things that a normal person wouldn’t necessarily culture. My child has a different mutation; however, his symptoms are mainly sinus and digestive. Does your husband have any symptoms with his two genes?