Questions....

[anonymous]

My 15mo old daughter had a sweat test last Friday. The results came back normal. This was done at an accredited center.

She had back to back colds a few months ago that settled in her chest very quickly. She was diagnosed with asthmatic tendencies and had albuterol breathing treatments.

She has always been at the low end of her growth chart. Varying between 10th percentile and below the 5th percentile. This is despite a huge appetite. I have had to cut her off at meal time. I don't think she'd ever stop eating on her own.

For the past 5 weeks now, she's had HORRIBLE diapers. Very soft/loose, a lot of undigested food in them, and they're "shiny". The woman administering the test said that was most likely from fat. Oh, they're also frequent. She will have anywhere from 5-10 a day.

This was the first test on our list because my sister-in-law has cf. We have no idea if either my husband or I are carriers. My husband did have the sweat test done when he was younger. He had to have it done twice because the first one came back borderline. Second test was normal.

Is the sweat test absolute? I know the ped said we need to get a weight check on her and then will most likely do "poop" studies on her. Is there anything out there besides Celiacs that can mimic cf? Other enzyme deficiencies?

Thanks!
Michelle

 

[anonymous]

The sweat test is typically the first test administered to rule out (or in) CF, but it is by no means absolute. The best way to determine if your daughter's recent health issues are CF related is to take her for genetic testing. I believe Ambry tests for 1000 of the known mutations, so I would push hard to get this done.

I hope you find answers soon!

-- Jenica

 

[HollyCatheryn]

It is unusual, but there is such a thing as an atypical presentation, meaning that the person has CF genetically and in practice, but doesn't show up on a sweat test. Do the sweat test first. It is painless, non-invasive and still considered the "gold standard" in many places. If that comes back borderline or negative, but they have found no other positive diagnoses then opt for the Ambry genetic screen. They will draw blood and send it off and it will take approximately two months to come back with the results. Make sure that both the sweat test and the blood draw are done at an accredited CF center. You'd be surprised how widely things can vary from lab to lab if it is not used to CF. As to Celiac, the first thing you can do is try an elimination diet. This is non-invasive and will give you a general idea if it is food-related or just generally a digestive thing. Do remember that with Celiac, you must cut out ALL GLUTEN, not just wheat. Spelt, oats, wheat and MSG all contain gluten. Rice, corn, quinoa, potato flour and some other grain flours do not. If you need some help with Celiac stuff, let me know. My daughter was gluten-intolerant for two years and my family has a history of Celiac disease, so we have lots of Do's and Dont's down pat and some good recipes.

 

[anonymous]

Michell, My son is 16 and he has CF. His first sweat test came back normal. The second test when he was 32 months came back CF. they told me that the first test must have not had enough sweat for an accurate result. He was very sick for almost three years of his life with all the symptoms you described. I am not saying your baby has CF but for your babys sake look further into it. Within three months of finding out my son was a happy healthy (or should I say as healthy as he could be with CF) baby... good luck and God Bless