Probably not Cf? what do you think?

[Mistyjo]

I've posted before about my daughter.  She had 2 borderline sweat test 41, 50.  She has chronic constipation and failure to thrive.  All of her test are coming back normal except for the vitamin d, which a lot of you responded too, thanks.  Her stool sample is normal, and she has none of the most common 92 cf genes. 
My thoughts are she probably doesn't have cf, but the vitamin d is throwing me.  If it was a little low I would think it's due to not enough sunshine, but her level was 18.  The nurse said they like to see it above 30 and from what i read normal is above 40. 
What is also causing me to worry is her teeth.  She has two holes in her teeth that has been there since she was 3 1/2.  She's 5 now.  She also chipped her two front teeth from grinding her teeth not from a fall or accident.  I grinde my teeth and have never chipped a tooth from it.  Any thoughts on this?

 

[Mistyjo]

I've posted before about my daughter. She had 2 borderline sweat test 41, 50. She has chronic constipation and failure to thrive. All of her test are coming back normal except for the vitamin d, which a lot of you responded too, thanks. Her stool sample is normal, and she has none of the most common 92 cf genes.
My thoughts are she probably doesn't have cf, but the vitamin d is throwing me. If it was a little low I would think it's due to not enough sunshine, but her level was 18. The nurse said they like to see it above 30 and from what i read normal is above 40.
What is also causing me to worry is her teeth. She has two holes in her teeth that has been there since she was 3 1/2. She's 5 now. She also chipped her two front teeth from grinding her teeth not from a fall or accident. I grinde my teeth and have never chipped a tooth from it. Any thoughts on this?

 

[Mistyjo]

<p>I've posted before about my daughter. She had 2 borderline sweat test 41, 50. She has chronic constipation and failure to thrive. All of her test are coming back normal except for the vitamin d, which a lot of you responded too, thanks. Her stool sample is normal, and she has none of the most common 92 cf genes.
<p>My thoughts are she probably doesn't have cf, but the vitamin d is throwing me. If it was a little low I would think it's due to not enough sunshine, but her level was 18. The nurse said they like to see it above 30 and from what i read normal is above 40.
<p>What is also causing me to worry is her teeth. She has two holes in her teeth that has been there since she was 3 1/2. She's 5 now. She also chipped her two front teeth from grinding her teeth not from a fall or accident. I grinde my teeth and have never chipped a tooth from it. Any thoughts on this?

 

[Mommafirst]

It could be CF, but it could also be something else. Until you run the full Ambry sequencing with deletions and duplications, you can't really rule out CF (and then who knows). But if she is FTT, there are other diseases that should also be checked....such as celiacs. Any disease that is causing FTT and chronic constipation, can mean malabsorbed vitamins and dehydration (which can elevate a sweat chornide score).

If you know something is wrong, don't give up. It may not be CF, but there is an answer out there.

 

[Mommafirst]

It could be CF, but it could also be something else. Until you run the full Ambry sequencing with deletions and duplications, you can't really rule out CF (and then who knows). But if she is FTT, there are other diseases that should also be checked....such as celiacs. Any disease that is causing FTT and chronic constipation, can mean malabsorbed vitamins and dehydration (which can elevate a sweat chornide score).

If you know something is wrong, don't give up. It may not be CF, but there is an answer out there.

 

[Mommafirst]

It could be CF, but it could also be something else. Until you run the full Ambry sequencing with deletions and duplications, you can't really rule out CF (and then who knows). But if she is FTT, there are other diseases that should also be checked....such as celiacs. Any disease that is causing FTT and chronic constipation, can mean malabsorbed vitamins and dehydration (which can elevate a sweat chornide score).
<br />
<br />If you know something is wrong, don't give up. It may not be CF, but there is an answer out there.
<br />

 

[just1more]

First of all I wouldn't rule out CF; but I wouldn't rule it in either. Are you seeing an accredited CF center? If not, you might want to see if there is one nearby (Cff.org has a directory).

Vitamin D is absorbed in the intestines, so the malabsorption leading to constipation & the FTT are likely related. The trick is going to be figuring out why she is not digesting well.

CF is obviously a possibility, and the results you have so far don't really tell much; but there are some other disorders that can cause the same GI symptoms.

I would personally take a 2-prong approach: 1) push for complete CF testing (1500 mutations) so you have a solid yes/no and 2) possibly talk with a pediatric gastroenterologist for their thoughts on the symptoms to rule in/out other causes.

Good luck

 

[just1more]

First of all I wouldn't rule out CF; but I wouldn't rule it in either. Are you seeing an accredited CF center? If not, you might want to see if there is one nearby (Cff.org has a directory).

Vitamin D is absorbed in the intestines, so the malabsorption leading to constipation & the FTT are likely related. The trick is going to be figuring out why she is not digesting well.

CF is obviously a possibility, and the results you have so far don't really tell much; but there are some other disorders that can cause the same GI symptoms.

I would personally take a 2-prong approach: 1) push for complete CF testing (1500 mutations) so you have a solid yes/no and 2) possibly talk with a pediatric gastroenterologist for their thoughts on the symptoms to rule in/out other causes.

Good luck

 

[just1more]

First of all I wouldn't rule out CF; but I wouldn't rule it in either. Are you seeing an accredited CF center? If not, you might want to see if there is one nearby (Cff.org has a directory).
<br />
<br />Vitamin D is absorbed in the intestines, so the malabsorption leading to constipation & the FTT are likely related. The trick is going to be figuring out why she is not digesting well.
<br />
<br />CF is obviously a possibility, and the results you have so far don't really tell much; but there are some other disorders that can cause the same GI symptoms.
<br />
<br />I would personally take a 2-prong approach: 1) push for complete CF testing (1500 mutations) so you have a solid yes/no and 2) possibly talk with a pediatric gastroenterologist for their thoughts on the symptoms to rule in/out other causes.
<br />
<br />Good luck

 

[martysmom]

Sorry to hear you are going through this. (((hugs))). My son was a diagnostic dilemma as well, but ALL of his tests came back abnormal but the amazing doctors (i am saying this sarcastically) that we were dealing with could not add 1+1!! He also had a mutation screen that showed nothing. So they told me no CF and that he probably had schwachman diamond syndrome. We went back and forth between the two diagnosis for a while. Finally, we switched centers and the doctor ran the quest complete CF test and it showed he had mutations and polymorphisms. The important thing to remember is that everyone presents differently and sometimes I think doctors dont realize that. Keep pushing! Hang in there!

 

[martysmom]

Sorry to hear you are going through this. (((hugs))). My son was a diagnostic dilemma as well, but ALL of his tests came back abnormal but the amazing doctors (i am saying this sarcastically) that we were dealing with could not add 1+1!! He also had a mutation screen that showed nothing. So they told me no CF and that he probably had schwachman diamond syndrome. We went back and forth between the two diagnosis for a while. Finally, we switched centers and the doctor ran the quest complete CF test and it showed he had mutations and polymorphisms. The important thing to remember is that everyone presents differently and sometimes I think doctors dont realize that. Keep pushing! Hang in there!

 

[martysmom]

<p>Sorry to hear you are going through this. (((hugs))). My son was a diagnostic dilemma as well, but ALL of his tests came back abnormal but the amazing doctors (i am saying this sarcastically) that we were dealing with could not add 1+1!! He also had a mutation screen that showed nothing. So they told me no CF and that he probably had schwachman diamond syndrome. We went back and forth between the two diagnosis for a while. Finally, we switched centers and the doctor ran the quest complete CF test and it showed he had mutations and polymorphisms. The important thing to remember is that everyone presents differently and sometimes I think doctors dont realize that. Keep pushing! Hang in there!

 

[Mistyjo]

Thank you so much for replying.  We've been in this battle since she was born.  I'm so tired of waiting on test results and not really finding out anything.  I just want to feel like for once there is nothing to worry about. 

 

[Mistyjo]

Thank you so much for replying. We've been in this battle since she was born. I'm so tired of waiting on test results and not really finding out anything. I just want to feel like for once there is nothing to worry about.

 

[Mistyjo]

<p>Thank you so much for replying. We've been in this battle since she was born. I'm so tired of waiting on test results and not really finding out anything. I just want to feel like for once there is nothing to worry about.

 

[Ratatosk]

The problem is with being told that it's probably not cf based on intitial tests is that your child STILL has symptoms of something. And you want to get to the bottom of what's causing her health issues. Frustrating as it is, IMO you need to push for answers, so your child can get the treatment for whatever is causing her issues.

 

[Ratatosk]

The problem is with being told that it's probably not cf based on intitial tests is that your child STILL has symptoms of something. And you want to get to the bottom of what's causing her health issues. Frustrating as it is, IMO you need to push for answers, so your child can get the treatment for whatever is causing her issues.

 

[Ratatosk]

The problem is with being told that it's probably not cf based on intitial tests is that your child STILL has symptoms of something. And you want to get to the bottom of what's causing her health issues. Frustrating as it is, IMO you need to push for answers, so your child can get the treatment for whatever is causing her issues.

 

[Mistyjo]

She does have a very redundant colon and I think this is the cause of the constipation, but what is causing the failure to thrive and low vitamin d?  She probably doesn't have CF but why did she have two borderline sweat test? 
Thanks so much everyone for responding.  I will probably have more questions soon.

 

[Mistyjo]

She does have a very redundant colon and I think this is the cause of the constipation, but what is causing the failure to thrive and low vitamin d? She probably doesn't have CF but why did she have two borderline sweat test?
Thanks so much everyone for responding. I will probably have more questions soon.