Problems with Diagnosis........Update

Edna0312

New member
Hi everyone!

Okay, we went to Brenner Children's hospital at Wake Forest two weeks ago. Saw the GI specialist, and I think I will like him. He listened well, and commited to help me get to the bottom of what is wrong.

After we discussed my daughter's symptoms, and then my son's, he went to talk to the CF drs. They decided we should do another sweat test on my daughter and do one on my son as well. They did both of them that day, and again, both were negative. So next week he is going to do a EGD and get a sample of her pancreatic fluid to analyze. He said he has only heard of one other child with pancreatic insufficiency without having CF or Schwacman's Syndrome. So, he is very interested in what is going on with her.

The GI doc thinks that the sweat test is enough proof for him that the kids don't have CF, but my gut feeling is still that the Genetic testing should be done. (Especially after what I have heard from you all!) Also, he was not at all familiar with the Ambry test.

So, I again, went out on a limb myself and contacted a Genetics clinic. It just so happened that they had a cancellation tomorrow!! Thank God! I specifically asked for the Ambry test, and they do offer it.

By the way, I had mentioned that my son had miraculously started pooping after starting the enzymes. He pooped very well for 3 1/2 weeks and then stopped again. I am truly at my wits end with all of this. The Ped. has absolutely no answers for me. I want to sit down and cry. It is just frustrating that NO ONE knows what is wrong!! Especially when I watch my 4 month old baby boy struggle with all his might just to have a bowel movement that's not even hard. I mean, if the stool was hard, I could understand why it was so difficult for him.

Sorry, I was rambling.

Anyway, I will let you know what happens tomorrow at the Genetics Clinic.

In Search of Answers,

Edna
daughter, 5; daughter, 2 1/2 ??CF; son, 4mos ??CF
 

rose4cale

New member
Edna, I am so glad that you still pushed for the genetics test. Even if it still comes back no CF, then you can positively rule that out. That would be a lot more comforting than still wondering about the reliablilty of the sweat test. We were told by baffled doctors that our son was going through a phase. To think if I would have listened to them! Oh, I so remember the frustration of NOT KNOWING! I wish you the best. The Ambray results took about 3-4 weeks to get back, so be ready for a long wait. That in itself is quite stressful, but at least you'll know.

Do keep us updated!
 

anonymous

New member
I am glad you are pushing on this one (some parents would just take a negative diagnosis and run, you know!) because it will be MUCH better for you all to find out for sure. I hope your results come in soon!

Kelli (mom of Sydney 2wcf)
 

anonymous

New member
I am not totally sure of your children's symptoms but my daughter has CF but she also has stomach problems unrelated to CF, constipation and problems at birth and she has Hirschsprungs Disease, bowel problems, etc. There is lots of info on the internet. Just a thought. Joan
 

Edna0312

New member
Thanks again for the responses. It helps so much just to vent and have feedback.

Well, I had no idea how expensive the Ambry test was!! They told me roughly $3000.00. I'm self employed and carry my own insurance, with very high deductibles. They told me I had to meet deductible first. Or, be willing to pay $3000.00.

So, hopefully, we will meet the deductible next week when she has the procedure done at Wake Forest. I still know I will feel better once it is done.

Joan,

You asked about my kid's symptoms. To make a long story short...My daughter has had mucousy slimy foul-smelling poops since birth. A runny or stuffed up nose and cough since birth, and has finally been diagnosed with pancreatic insufficieny. My son is 4mos. old and has had foul smelling gas, a runny or stuffed up nose and cough since birth. But, he can not have bowel movements. He is not truly constipated in the since of the stool being hard, it's actually mucousy and very sticky, he just can't get it out on his own for some reason.

I really think it is going to end up that my kids have a genetic problem that has of yet not been found. At least that's how I'm feeling these days.

Edna
daughter, 5yrs; daughter, 2 1/2yrs ??CF; son, 4mos. ??CF
 
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