First a Positive, now a negative...which one's right???

[cabner]

<font color="blue">My 2 year old son has had health issues since
birth.  At 4 months he was diagnosed with GERD, then at 6
months he was hospitalized over night with RSV.  From 4-6
months he maintained a weight of 15lbs until I switched formulas to
Alimentum.  He then gained weight, but was dealing with
constipation so was put on Reglan in addition to the Prilosec for
the GERD.  Around a year old he started having diahrea daily,
so we took him off of the reglan.  This lasted about a month,
then back to the constipation.  At 1 year 8 months he had a
gastric emptying study done which showed delayed motility. 
He's now on:  Prevacid, Flovent, Reglan, Miralax and
Erithromyicin in order to keep the GERD and the constipation
away.  HOWEVER  he still battles with constipation. 
Within a single day he can go from a super runny diaper (due to the
meds) to one that's hard as a rock, causing him to scream in pain
while he goes.    We switched GI doctors since the
original one was continuously wanting to wean him off of the
reglan/prevacid.   The new doctor, determined to get to
the cause of this had a sweat chloride test done to rule out
CF.  </font>

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<div><font color="#0000ff">My son's first test came back with a
74.   Then the doctor ordered another sweat chloride test
along with a fecal elastace and a fecal fat spot test.  
This second sweat test came back with a number of 36!!!  
We're still waiting for the results of the stool
studies. </font></div>

<div> </div>

<div><font color="#0000ff">While they were trying to rule this out,
I started to do a lot more looking into the symptoms of CF. 
My son has had 2 respiratory illnesses causing him to be on the
neubulizer (one hospitalization), however he also tends to get any
cold that he comes into contact with.  He continues to have
bouts of constipation despite the medications that he's on. 
Most of the stools are a very light tan almost yellow in color
(TMI, I know...) and are very stinky.  If they're not little
pebbles, or baseball sized, they're very thick, yet runny if that
makes any sense.</font></div>

<div> </div>

<div><font color="#0000ff">I'm not sure what to think at this point
in time.  The pediatrician says that with this second test
being negative, that if the stool studies are negative, then he
doesn't have CF.  My thoughts are, what about this first
test???  and is it common to see such different results
between the 2 tests?    Lots of
questions....</font></div>

<div> </div>

<div><font color="#0000ff">Thanks for reading!</font></div>

<div><font color="#0000ff">cabner</font></div>

 

[Augustmom0003]

Cabner,

I'm sorry you and your baby are going through all of this. First question would be, was the sweat test done at a CFF accredited hospital? That's very important! Either way, I would order a DNA test...to be sure. The stools do sound familiar...but COULD be other things too. TRY not to worry...I know it's hard. Although it does happen that the second test is negative and the first positive...it's RARE. The only one I personally know of was my friend's son. His first was done at a regular hospital (and was positive) then the second was done at a CF Center (and was negative). But I've been told that there's usually never a false positive (hope I worded that correctly! lol)

If I'm wrong about any of this guys, please jump in and correct me!!!!

Take care and keep us posted!

 

[Alyssa]

Please read my full story about my kids and their sweat test numbers on my blog.

Regardless of which number is correct I would strongly recommend getting <b>full genetic testing</b> -- your child has several symptoms that sound like they could very well be CF related.

I know nobody really wants the dx of CF, but the upside is if he does have CF he can start getting the correct treatment and hopefully start feeling and doing better.

Also keep in mind that <b>many people on this site have sweat tests numbers in the 30's </b>and have gone on to get genetic testing that proves they have two CF genes -- it's not just my kids. Keep pushing the doctor until you get full genetic testing from either Ambry or Quest labs.

Please keep us posted!

 

[Ratatosk]

Ditto on getting a genetic test. DS's came back as 32; however, he was born with a bowel obstruction and had pretty loose stools. Genetic testing showed double delta f508. L

 

[izemmom]

YOur description of the stools sounds JUSt like Emily's diapers. Yucky. I ditto what everyone said about t he further testing. Do what it takes to get to the bottom of this. Like someone else said, if it is cf, get proper tretment sooner rather than later. My question for you, why the Flovent? Is it for the respitory issues and do you use it even when he's not having any? Em is on many of the same meds your son is, including the Flovent and I was just curious.

 

[letefk]

I agree with the others. The one positive test should be enough to merit a genetic test. They are expensive, but most insurances will cover it. As I described in another post (heterozygous, but CF), I have two children that are, according to the old logic, "just carriers," and both with sweat chlorides in the normal to borderline range. But one has clear (but so far fairly mild) CF. THe other appears to have other issues, GERD and sinuses, that are CF-related. If your son's issues are related to these mutations, even if it does not fit the classic form of the disease, you want to know that. Certain combinations of modifying genes in heterozygotes who 'pass" the sweat chloride test (as in the case of my daughters) can still lead to serious digestive or respiratory problems, and these issues respond to CF treatments. IF that is the case, the earlier you start them, the better off.

 

[julie]

Cabner,

There are no false positives, but there are pleanty of false negatives regarding sweat tests. I would say that from that initial sweat test, plus the combination of the respiratory infections, digestive/stool problems, RSV and problems with gaining weight, it souds very very much like CF to me.

also, this pediatrician you are seeing. Is he a CF certified pedi. or just a standard pediatrician? If he is the latter (which I am assuming he his by his statement of, "if the stool sutides are negative then he doesn't have CF"), I would get a referral to a CF accredited center in your area ASAP. You can find one by going here, www.cff.org (the page takes a few minutes to load) and then clicking on Local chapeters. The reason why I would assume the doctor is the latter is that almost all doctors who don't specialize in CF make statements like this. It isn't because they don't care or they are intentionally trying to give you the wrong information (although there are some who are just plain ignorant and refuse to admit they are wrong or simply don't know). Rather it is because CF is a complicated disease and not many docs (who don't specialize in it) take the time to really learn about it. Therefore, your son is not getting the optimal treatment he could be getting if you stay with this doc. I would really suggest you press for a referral (if your INS. requires one) to a local CF clinic.

There are a number of different options for CF genetic testing (they just draw blood for this). A lab called genzyme tests for 97 of the most common mutations. This is usually where people start. But say your son has rare mutations, or a combinaton of a common and rare mutation, this test isn't really going to do you any good.
Another lab called Ambry genetics (www.ambrygen.com) tests for the 1300+ known CF mutations. THis is a very expensive test and some ins. companies are reluctant to pay for it, but with some pushing and letters from doctors (go with a CF doctor for this type of letter) they usually do cover it.
The last lab is Quest Diagnostics and they have a test that is comprable to Ambry's test. Quest also tests for the 1300+ known CF mutations. The upside to Quest is that they have been aroudn for a few decades and some people have better luck getting insurance to cover a test with Quest than they do with Ambry.

Let us know how things are progressing, we're here to help!

 

[cabner]

I want to thank all of you for your responses.  I'll admit, at
first when the first test came back positive, I was totally freaked
out.  However the more I've read up on CF, the more I began to
think that yea... my son does have symptoms!!  I was finally
getting my head around the idea when the second test came back
normal.  His first was a 74, and his second a 36.  Such a
big change in results in my mind.  I would've expected
the second to come perhaps somewhere in the 60's, but to be reduced
by over 1/2 floors me!!!<br>
<br>
His new pediatric GI doctor ordered the tests for the CF.
 However was unavailable after the second result to speak with
so I called the regular pediatrician (who will tell you he's in no
way a CF specialist).  It was him who said that about the
stool samples.  Regardless of how those come back I will be
pushing for further testing.  I know there's something wrong
with him, and will push until I find out what it is, so that we can
deal with it correctly.<br>
<br>
I did ask the lab lady who was doing the test how many their lab
handled a week, and how many false positives they've had.  The
answers were a bit concerning as well.  They have averaged 2
test per day for the past 2 months, with 2 false positives (before
ours) within the past week.  With ours (if it is a true false
positive) that would be 30% false positives assuming that all ten
were positive!!!!  I'm not comfortable with those odds.
 Unfortunately before the tests were scheduled I didn't know
about labs/hospitals being CF accredited.  This was the last
test going into the day that I expected to come back positive.
 He also had a thyroid test and a celiac panel ran the same
day.  Thyroid = normal, still awaiting the celiac panel
results.  <br>
<br>
For those of you who've pointed to blogs for me to read, I'm
heading to those now.  Thank you again for your support!
  I'll continue to post, as we continue through the
testing maze.<br>
<br>
cabner<br>
<br>
As far as the person who asked about the flovent, he's on that
because he showed signs of esophageal allergy during his endoscope,
so they're treating him for that with the flovent.

 

[Brad]

Cabner

it happens...

to this day and I have had tons of sweat tests

I get a Pos on my left arm and a Neg on my right arm...

make sure they are testing the same arm or leg

 

[Debra]

I also think that the numbers dont really mean anything. Its either positive or not. A high number or a low number does not affect the CF person differently.