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Jess mom 06-05-2010 12:45 PM

Question for anyone with sweat test in the 30's.
My daughter's fecal fat test just came back positive so she does have fat malabsorption but no conclusive diagnosis of CF yet. Sweat test came back 34 and then the next one dipped all the way down to 18. Do you know if sweat tests are supposed to vary that much? Maybe the second one was a technical error? Doctor says some sweat tests in the 30s still can be CF. Esp. with a positive fecal fat situation. What do you think? Are there any other common causes of fat malabsorption in children besides CF? We might pursue genetic testing such as Ambry.
God bless all CF moms!

Ratatosk 06-07-2010 08:11 AM

Re: Question for anyone with sweat test in the 30's.
Being that DS had a normal 32 for his sweat test, yet blood tests showed positive for CF, I'm not a fan. Sweat tests are GREAT for indicating CF if they're high, but there tend to be a lot of false negatives. Meaning if the sweat test is high, it usually means CF, but that's not necessarily the case if the result is low. There are over 1500 genetic mutations for CF and I know of several individuals whose children had very low results, but due to family history and/or symptoms, they pushed for ambry amplified testing.

Sometimes it has to do with not being able to get a good sample, that the child is too young and doesn't sweat or conditions are such that they don't sweat.

Another thing that can skew results is experience of the technician doing the test. The Cystic Fibrosis Foundation suggests the tests be done at an accreditted cf care center and not a local clinic.

Jess mom 06-07-2010 08:25 PM

Re: Question for anyone with sweat test in the 30's.
Thanks for your thoughts and insight! Our next step is genetic testing with Ambry. And I will ask her GI doc if there are any other common causes of fat malabsorption in children besides cystic fibrosis. Also, you had mentioned in another message to see if a doc would order a culture from her lungs for pathogens common to CF. I think this is a good idea and will suggest that as well.

TwinswithCF 06-10-2010 06:32 AM

Re: Question for anyone with sweat test in the 30's.
Good info Ratatosk.

I whole heartedly myself prefer a genetic mutation for CF test. It's more accurate in the long run and faster results to rule out CF.


Jess mom 07-09-2010 05:24 PM

Re: Question for anyone with sweat test in the 30's.
How are your twins doing? I too have a 14 year old! My 7 year old daughter's doctor wants to order a pancreatic elastase test before we do genetic testing for CF. She has confirmed diagnosis of fat malabsorption, but I guess he wants to narrow down the cause of this to the pancreas. I would rather just go straight to the genetic test, but if I'm meant to practice "patience" (which so many of you CF moms have gotten good at, I'm sure...) then I can accept that lesson.
How do you handle the "waiting game?" It's been 3 years looking for a diagnosis for my daughter.....!

mom2owen 01-12-2011 09:44 PM

Re: Question for anyone with sweat test in the 30's.
My son had one sweat test in the 30's and one in the teens. He has "asthma", is failure to thrive, has a g-tube due to violent vomiting and diarrhea from certain foods, requires almost 3000 calories a day, has constipation alternating with diarrhea, and is now on Creon. We gave up on the elastase test and the fecal fat tests because he got so constipated when we gave him the 100 grams of fat for the test that he threw up repeatedly. We are trialing Creon with the thought that if he gained weight on the enzymes, we could diagnose pancrease insufficiency. He has has tonsils and adenoids removed for obstructive sleep apnea (which helped), he has chronic sinusitis, clubbed fingers and toes. Has had pneumonia several times, RSV even more times and whenever he gets a cold, he gets some kind of lung infection. He is also struggling with high blood sugars though he is currently able to regulate without meds so he is not diabetic. Finally, he gets severe bloody noses pretty routinely. We have to take him in since we cannot stop the bleeding in less than 20 minutes at times.
He has had the gene tests for CF done for 200 gene mutations, all of which were negative. I would love to hear what you learn and how you decide to proceed with things. I would love to hear a definitive non-CF diagnosis but we have not gotten anything substantial. We are told very often that he can't have CF with his sweat test results, and the gene tests, even though they cannot test for over 1,000 mutations.
One thing I will say is that we are treating him for his symptoms which brings me comfort even without a diagnosis. I know of others who received no treatment and then died earlier than they should have because of lost time. I cannot wait for science to catch up with our kiddos!
Good luck to you...

Ratatosk 01-13-2011 02:39 PM

Re: Question for anyone with sweat test in the 30's.
Ambry, Quest and Mayo all I believe test for over 1400 mutations, with deletions. I know of several people who in trying to rule out CF had nasal differential tests.

It sounds as if they're treating the symptoms. Does he do chest physiotherapy or the vest and nebulized medications? Have they ever run a cf culture to see if he cultures common CF bugs such as pseudomonas or steno. maltophillia?

As mentioned before DS had a normal 32 for his sweat test, but he also tested positive for one of the most common CF mutations.

IMO, I'd be looking at trying to get your son seen at an accreditted cf facility. You can check with the CF foundation to see where the closest one is located to you. The clubbing and # of respiratory infections is concerning and could lead to lung damage.

Whoops -- I see you're in MN -- U of MN and Minneapolis Children's are both accredditted facilities and have very high rankings in terms of patient care.

mom2owen 01-13-2011 06:46 PM

Re: Question for anyone with sweat test in the 30's.
Thanks for the response! I am actually sitting in a clinic hoping to not have strep throat, more for Owen's sake than my own, but I am sure you know how that goes!
unfortunately, we have been to both Mayo and the U of M. Mayo did not do gene testing for1400 mutations, only around 70-200. They were the ones who suggested CF but then when his sweat test was only 38, they did not think it would be worth the extra tests. Honestly, when I asked about the variants, the CF nurse said I was "grasping at straws" so we tried the U. His test there gave an 18 value so we didn't even get to talk to genetics or any other docs there.
His digestion is far worse than his lungs are. He cannot digest and absorb food without either Creon or having total amino acid based diet. His hair and teeth show how malnurished he has been. Sad. Looking back, he had shown signs of problems as an infant (vomiting, diarrhea, blood in stools and multiple RSV infections with O2 sat rates of 74) but it wasn't until just two years ago that we qualified him as being "sick." He lost 14 pounds before he had his g-tube placed.
I am going to figure out how to ask for the nasal tests. That makes a lot of sense and even if we never get a dx, I want to know we are treating him as well as we can. Thanks for that suggestion.
Anyway, I didn't mean to hijack this thread, just to communicate that there are lots of us out there and that when you hear of low sweat tests but positive CF, there is a bit more concern about the unknown....

Ratatosk 01-13-2011 07:41 PM

Re: Question for anyone with sweat test in the 30's.
Unfortunately, I've heard similar stories all to often. No family history, low sweat test numbers, so that's all the farther doctors go unless the parents push for answers. Any clinic can order tests, you don't have to go thru a cf clinic. You could contact ambry and see what the process is or see if they have suggestions to obtain further testing.

DS mainly has digestive issues; however, we've been doing chest physiotherapy and the vest since he was a baby to keep his lungs clear. We were fortunate that a local doctor ordered the mayo tests, otherwise we might still be searching for answers. No family history...

Jess mom 01-13-2011 08:01 PM

Re: Question for anyone with sweat test in the 30's.
Mom to Owen-

I am the one who originally posted this last summer. First of all, let me say I am so sorry you are going through so much. I find it interesting our kids' two sweat test results were both so similar, and in the same order. Do you agree that it seems "fishy" that a sweat test value can vary by HALF?! 18 is HALF of 36, let alone 38. I told our GI doc that if a sweat test can fluctuate down by 50% on any given day on a whim, how do we know it wouldn't INCREASE by half on any given day on a whim, and then suddenly we go from surely NOT CF to high enough values to confirm CF???? I just don't get it! Honestly, I think the test has many flaws.

I am here to encourage you to push and to let you know that it's possible - we did it. I was in your shoes. We applied for Ambry genetics full 1600 mutation panel this summer. Insurance denied it. We fought it. They repealed their decision. We did, however, have doctors on our side who were willing to write a letter of appeal, but (this is where it becomes important to YOUR case) they were willing to appeal it with MUCH less evidence for CF than you have! My daughter's two main symptoms were fat malabsorption and GI bleeding. She had no pulmonary involvement and was hardly ever sick. Yet the doctors felt it important enough to rule out. In my mind, you have WAY more evidence that supports CF. Not to scare you or jump to conclusions.

Anyway, it turns out, my daughter tested "no known mutations" for CF. We are still pursuing diagnosis, and in the meantime, she has had consistent foamy, bubbly, pale, floating stools (fat malabsorption) and digestive incontinence because of this, and she has had GI bleeding again recently. We are looking into Shwachman diamond syndrome. This is something that might make sense for your case too; I know a lot about it...let me know if you want more info. Best wishes!

Jess mom 01-13-2011 08:06 PM

Re: Question for anyone with sweat test in the 30's.
Mom to Owen-
It's me again...I just clicked "send" and forgot I was going to ask you...
My daughter has had GI bleeding too. Several significant episodes at least. She had 3 colonoscopies within a 6 month span. Have you done one? Wow is the prep a nightmare! Anyway, they found a strange purple (not a polyp) lesion that they couldn't identify, and then months later found neutrophilic infiltration and lymphoid hyperplasia upon biopsy. What did they find with your child? What are they saying caused his bleeding? Just wondering if there are similarities in our cases.
Did you actually submit the fecal elastase test? What were the results if you did? My daughter had one fecal elastase test, but it came back negative. However, after considerable research, I found out that this test is not as accurate unless you have a severe case of PI. What do your docs say about this test?
Thanks for answering my questions. Again, I hope for the best for you.

mom2owen 01-13-2011 09:28 PM

Re: Question for anyone with sweat test in the 30's.
Hi again! Good news is that I do not have strep:) Just a sinus infection and viral yuck. Thank goodness but now I just have to make sure Owen doesn't get it too...
Anyway, I cannot tell you how much I appreciate all of your comments and ideas. It makes me want to cry when I find out how many people there are who deal with these issues and yet those people are the very ones who offer support. It means a lot to me. Sometimes, I get so into the routine of just caring for Owen, preparing his formula alone is stressful, that I forget how rough his road has been. When I wrote all he has been through here, it really struck me as a lot, especially for someone without much of any diagnosis!
And, what I hate so much about this situation is that when doctors write something off, if you fight to have more testing done, they make you feel like you want your kid to have it! Obviously not the case, for any of us, but his symptoms are his symptoms regardless of what they want to call it. It is frustrating to say the least. Luckily, a friend of mine has been so supportive and has really gotten us to where we are today. Her son passed away to CF six years ago and she is determined to help others in similar situations. Again, not to scare any of us, but his sweat tests were negative and he was diagnosed with food allergies and asthma. When he finally turned 18 and a great dr. decided to re-do the test, it was 60+ and he got diagnosed but died shortly after because he had so much damage from going so long without treatment. It is the motivation for me to keep treating Owen even without a dx. But, I find it ironic and even slightly entertaining that his treatment is what they would do for him if he had CF (minus the vest) but they refuse to believe he might!:dizzy:
But, to answer your scope question, Owen has had only one colonoscopy (we have crohn's in our family, he does not) and it also had some lesions. He has lots of lymphocytes and some surface ulcers in his upper scopes as well. But, they have never told me why he has bled. It has been a while since there was blood though so I haven't pushed it. Another place I have gotten support in on We started off believing Owen had food allergies but then he began throwing everything up, not just specific foods. The best thing for me about that site is that there are lots of tubey moms and we support each other through that madness. Of course, I am now hopeful that with Creon, he might have the end of his tube in sight, but I might be getting too far ahead in that department.
Also, we never did his elastase test. He became so backed up when we were trying to do the fecal fat test that we couldn't get any of the tests done. Then, he had his routine upper GI scope and since there is no dramatic intestinal damage (proving that is not why he malabsorbs), I asked if we could just treat him with Creon rather than waiting for a test to prove or disprove he doesn't absorb fat. Since he is hard to test, he is so reactive to foods, they agreed. Owen gained five pounds in ten days :eek: on Creon! What a little miracle pill that is! So, we got our pancreatic insufficiency diagnosis through the back door method of empirical trials. Ironically, our insurance doesn't want to pay for it since Owen doesn't have a CF dx too. Aye carumba! But, we won our appeal.
Is you daughter on enzymes? From what I hear, and have witnessed, the difference is almost immediate. Maybe it would be worth a shot for her too? It won't make it so Owen can eat everything, I will never try dairy with him, even if they swear it's safe (I don't even think I could make him eat it!) and it might not stop her bleeding issues but for us, it is obviously allowing him to digest and absorb things he was never able to in the past.
I will certainly look at the CF site and would love more SD syndrome info. It is something I have heard about and I cannot remember why but my dh and I decided it didn't sound like Owen, but I have not looked in a while.
So, thanks again for all the ideas. I have new-found energy to try to address this!

mom2owen 01-13-2011 09:35 PM

Re: Question for anyone with sweat test in the 30's.
Oh, and Ratatask, we do maintenance inhalers and albuterol rescue inhalers when his peak flow is in the red zone. Sometimes, his peak flow is the only indication we have that his breathing is off. When he was at the ER for H1N1 last year which became pneumonia, the only symptom besides a high fever was his breath function test (an then of course his chest x-ray). We do nebs when he is really bad but we have no other treatments that we use. Makes me think about it though. His chest gets really tight sometimes, he uses his albuterol before exercise because of that. He doesn't have a constant cough, though it is worse at night. He goes in waves, sometimes it is all night and during the day sometimes we hardly hear him at all.
How about your son? Do you do inhalers as well as the vest?

Jess mom 01-13-2011 10:06 PM

Re: Question for anyone with sweat test in the 30's.
Thanks for answering my questions about the fecal elastase and GI bleeding. What would we moms do without each other to bounce things off of?... As I continue to read about your little guy, I am truly amazed at how sick he has been with DEFINITIVE symptoms, "not just a little 'my tummy hurts' " some moms overreact with, and yet your doctors won't approve the Ambry amplified CF test???!!! Quote me when you say that there is a friend in California whose doctors (GI and peds) FOUGHT for authorization with a lot less evidence of CF than your case.
Do you mind if I ask more about your son's GI bleeding? This is the more disconcerting symptom in the minds of my daughter's doctors. It started with the finding of a weird, purple, bubble-looking lesion that looked NOTHING like a polyp. Doctors (4 of them) had never seen anything like it. When they wheeled my daughter in for surgery to remove that part of her colon a month later, the lesion was gone with a scar in its place. Therefore, they never did get to biopsy it. It was about 20 cm into the colon. Then 3 months later, more bleeding, they found neutrophilic infiltration and lymphoid hyperplasia. Recently, she's had bloody mucous (no stool, just bloody mucous). Does any of this sound familiar to what you experienced? We've ruled out crohn's, celiacs, cystic fibrosis.... The only thing about shwachman diamond that you might want to consider is that fact that while CF doesn't usually cause GI bleeding (unless you've been on enzymes way too long, I think I heard), I was told that Shwachman Diamond can cause both the bleeding and the fat malabsorption. Do you remember why you dismissed this a while back? I think it might possibly fit your situation from my limited glance at your son's history. Again, I'm no expert, just a mom who pokes around a lot. My heart and prayers go out to you. You've been through a lot!

Ratatosk 01-14-2011 10:04 AM

Re: Question for anyone with sweat test in the 30's.
Jess Mom has some excellent advice. BTW, sweat tests need to be done at an accreditted CF facility. That in itself could cause differences in the results.

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