Help!!! Pancreatic Insufficiency

[Edna0312]

Hi everyone!

I really need some help. My 2 1/2yr old daughter has been diagnosed with Pancreatic Insufficiency but we don't know why. She has been on enzymes since last Oct. She has had the sweat test for CF twice. Negative. She was also tested for other things and they were negative as well. Her symptoms seem to go right along with the digestive/pancreatic part of CF. Is it possible to have one of the different mutations of the disease and test negative on the sweat test????

I have tried to do research myself to come up with some answers, and I have not found any incidences of Pancreatic Insufficiency for no reason. She also became extremely bow-legged after she started walking, and I could not help but think it had something to do with her malabsorption problem.

Now, she is having significant problems with her teeth. The enamel is not very hard on most of them, and is literally chipping away!! She has several that are going to have to be fixed now or she will lose the teeth.

I am so frustrated by not knowing what is wrong with her!!!! I am now even more concerned, because I have a 2 month old son who is exhibiting the same bowel problems that she began with. But, I have a 5yr old who is perfectly fine.

If anyone has any thoughts, please help me!!!!

Thank you,
Edna

 

[Melissa04267]

I would go and have genetic testing done.. its a simple blood test and then you could go from there..sweat tests arent always correct..

 

[anonymous]

Just to second Melissa, the sweat test is definitely not definitive. Some mutations will typically come back with a borderline or even negative test. My daughter, due Sept. 4, has already been diagnosed through a CVS test to have CF, but I've been told by two doctors that her sweat test will likely come back negative. I would definitely look into genetic testing.

I believe Ambry tests for a little over 1,000 mutations and you can request this through your daughter's pediatrician.

I really hope you find some answers soon!

-- Jenica

 

[Edna0312]

Thank you so much for your responses!! I have located a CF center close to me, and am going to go forward to try to get to the bottom of this.

If anyone has any other thoughts that may be helpful, please share them.

Thanks,

Edna

 

[Seana30]

Edna,

My daughter was 10 years old, only weighed 48 pounds and had severe stomachaches. She was diagnosed with pancreatic insuffciency. We had the sweat test and it came back high. Another sweat test.....normal........different hospital......sweat test, high........sweat test.....borderline. We went on like this for 6 sweat tests. We finally had the gentic testing and that showed that she did have CF. I wish they would have done the genetic testing right from the start.

In my opinion DEMAND that they do a gentic test on her.

Seana

mom to Lauren, 14, no CF- Courtney, 12, with CF- Cameron, 10, no CF

 

[rose4cale]

I'm with everyone else! You need to follow your gut and have a genetic test done. My son was negative for ALL of his sweat tests but his symptoms were so text book, that I wouldn't take no for an answer. After the blood test, it was confirmed and he was diagnosed. I just have no faith in the sweat tests. I'm glad I followed my gut, he is doing SO much better now!

Best wishes!

 

[Edna0312]

Thank you all so very much for your responses!!! They have been most helpful!! I will keep you updated on our progress!!

Let me just mention the symptoms of my baby boy, and see if they sound familiar. After passing meconium in his first week of life, he completely quit pooping. I had to do rectal stimulation with a thermometer to get him to poop. He went a full month with out having a poop on his own. May I add that the poop was very sticky, mucousy, and VERY foul smelling!! Then, for about a week and a half, he had 6-8 slimey poops a day. Now, he has completely quit again. When he quit pooping the first time, the doctors did a test and found a small meconium blockage. They said it would probably clear on its own. I'm not so sure.?? He fusses a lot from extremely foul-smelling gas. He seems to have lots of tummy pain.

Please let me know if this strikes a cord with anyone.

THanks so much,

Edna
daughter 5, daughter 2 1/2 ??cf, son 3mos. ??cf

 

[anonymous]

I would DEFINATELY have a genetic test done on them. If is it CF, the sooner the diagnosis the MUCH MUCH better.

If I were you, I would CALL TODAY and make an appointment for ASAP. Your pediatrician should be able to set you up with the lab (for bloodwork) within a day or two - don't let anyone put this off any longer.

I think that many/most general doctors don't know know much about CF at all. They think it is more rare than it really is (so unlikely that your kids will have it) and they also don't realize that the sweat test isn't 100%. I think my CF book from the CFF says something like only 80% of CF cases are diagnosed accurately with a sweat test.

GOOD LUCK & PLEASE KEEP US UPDATED!