Question about Diagnosis

[anonymous]

My son is 6 years old and has been sick with different things since he was a baby. Excess wax build up in ears, Ear infections that led to Cholesteatoma, Respitory infections where he required Xopenex and Pulmicort and oral antibiotics sometimes steriods several times a year every year, the past 8-9 months he has had chronic sinus infections (found out that he has a deviated septum and polyps developing), Severe allergies which requires Flonase and Singuliar, 10/3/05 found out he had exercise induced asthma then on 11/2/05 found at that he had regular asthma not just exercise induced. He had been on Asmenax since about September 05 and was changed to Flonase and his asthma is still not under control. His asthma is very mild, but every visit it has gotten worse. Also to add since he was a baby is stomach problems- don't know if he has a problem or if it is the side effect of all his meds and changing meds. Just recently he has a junky cough- he is otherwise fine, but a every now and then junky cough. I haven't even taken him to the doctor for the cough because I feel like I am just going to be sent away and I already have started breathing treatments and it isnt really helping. When we went to the pulmonologist for the first time he suggested CF and sent us to have a sweat test. His first sweat test came back at 62. The doctor sent us then to Quest for CF genetic testing which came back negative. So the doctor was confused and I suggested another sweat test so we went and he had 49. Today the doctors office calls and said everything is fine and he doesnt have CF. I am so confused... Should I get a second opinion? What would make my son have elevated sodium in his sweat test besides CF? I guess I am just tired of waiting and wanting a for sure answer as if he has CF or not. I have two other young kids that I worry about now. Please let me know your opionions about our situation.
To make things harder is we are on state insurance so we get pushed around and have long waits for any and everything that we deal with...

 

[anonymous]

Sorry where it says Flonase for asthma it should be Advair. Another thing I just found out is the Quest CF testing that was done was not the extensive one, it was just the general genetic testing.

Thank you for reading.

Jenny

 

[julie]

Sounds very CF characteristic(ey) t me. I would push for the extended CF test. 49 is borderline, where did you have your CF test done at? An accredited CF center really does make a difference. just some ideas..

 

[anonymous]

It was done at a CF accredited faciltiy.

Jenny

 

[julie]

trickey trickey CF!!! It could be that your son does have a rare CF muation, the symptoms sound classic of CF. How does the doctors office feel about sending out for the extended test? I would definately push for it.

 

[anonymous]

My insurance won't pay for the extensive blood test and I don't have the money so I am kind of stuck. Tomorrow I am going to call another pulmonologist to see if we can get a second opinion, but then we have the wait that just stresses me out. I know this all takes time, but I feel I am getting the run around. I also called our PCP and they said that a pulmonologist is the only one that can diagnosis CF- is that true?
This might be a dumb question so I am sorry in advance. Is there any other tests that I can request that can diagnosis or toward us more to CF?

Jenny

 

[julie]

Is that denial even with the borderline sweat test? Quest has an EXCELLENT billing department, I am sure they could work something out with you or get some informaiton to the insurance company. Also, you can try contacting the Lungs for life foundation, the Milan Foundation, or the Reach for the stars foundation and see if they can assist you with paying for the Quest test.

 

[Alyssa]

Yes there is another test -- it's not available everywhere and it's kind of a pain for a kid. I also don't know how expensive it is. It is called nasal potential difference. It tests some sort of happenings in the mucus membranes of the nose -- you can do more research on it, but what I do know is they insert a small needle in the child's arm (like an IV needle, but smaller I think) then they stick a tube up their nose and drip saline solution back out the nose. The kid has to sit there leaning forward with water dripping out of his nose for something like 20 minutes or so (don't quote me on that either) but at any rate you get the idea.

Sounds like you are in a difficult situation but yes I would do whatever it takes to get a second opinion and at the very least another sweat test. And better yet the more extensive genetic testing but I know you already said that would be hard.

Here is my standard information.... pass it along to your doctors if they don't believe you tell them to call Children's hosptial Seattle WA and ask the CF clinic docs there to verify:

I have a 17 year old daughter and a 19 year old son. They are both late diagnosis due to low sweat test numbers and no genetic testing done until just a couple of years ago. What we found out for sure is they both have two known CF gene mutations

DeltaF501
R117H

My daughters sweat test is 38 (done 4 times)
My sons sweat test is 41 (done only once - after genetic testing)

So I think even with a test number of 49 and all those "classic CF symptoms" he could still have CF -- keep pushing the doctors to find out for sure !!!

 

[Alyssa]

Oh, and your question about is a pulmonologist the only one who can diagnosis CF is not a dumb question ! I don't know the answer either ! My kids did get the diagnosis from the pulmonologist at the CF center.

It's possible that is true but it seems to me that any doctor that can document test results plus symptoms can make the diagnosis. Maybe your PCP just didn't think they were qualified/experienced in the area of CF to make that call.

 

[anonymous]

Our pediatrician diagnosed our son with CF.

Good luck--Jill 32 mom of Derek 1 1/2 (w/CF) and baby girl due next month (no CF)

 

[JazzysMom]

Any doctor can dx CF if they are knowledgable about it. I know many pulmonologists that are as ignorant to CF as a veternarian!

 

[anonymous]

My suggestion is to make sure you see a pulmonologist who is affiliated with a CF accredited clinic (see www.cff.org for the closest clinic to you.) According to our allergist, ENT, and pulmonologist, polyps in children as young as your ds are EXTREMELY rare in someone who does not have cf. My honest opinion is that it is very likely that your ds could have cf. DEMAND the extended panel through quest. Many times, insurance companies will not pay for the extended panel until the child has had multiple sweat chloride tests and a negative basic genetic panel because the extended panel is more expensive. However, if the child's diagnosis is still in question at that point, the insurance company will then agree (with a letter from the dr) to the extended panel. My personal opinion is that at our clinic, your ds would have received a diagnosis by now.

Good luck!! I know it's scary but just focus on the fact that once you know conclusively what you're dealing with, your ds will get the treatment he needs/deserves/requires and his health will improve!! Knowledge is power. Keep us updated.

 

[anonymous]

I made an appointment for my son for a second opinion. We are going to a pediatric pulmonologist that specializes in CF. I hope they give me more information and explain why they think he doesn't have it. I am sure though that since this doctor treats CF patients then he will be more familiar with all the ins and outs of testing. I guess my #1 question would be why would he have a postive sweat test and then be told no he doesn't have it--what are the chances? I have read numerous times on here and on the internet that there is error on negative and borderline tests, but never a postive that is really negative--does that make sense? I guess I am just worrying myself crazy...

Jenny

 

[anonymous]

I don't know if this will help you, but here is a webpage with LOTS of info on sweat tests such as what can cause a false positive:

<a target=new class=ftalternatingbarlinklarge href="http://www3.nbnet.nb.ca/normap/sweattests.htm
">http://www3.nbnet.nb.ca/normap/sweattests.htm
</a>
HTH!
Kelli - mom of Sydney 2.5 wcf and baby boy due 5/6/06

 

[veptrmom]

I want to point out that althoug time consuming for you, with state insurance you do have the right to appeal as in any other insurance. All the way up to the supreme court. If you have your child's medical records and all the documentation needed that would point to needing a more extensive test over a sweat test go for it. It can be done an I know of families who have won appeals against the state. I'll send out a few emails and see if they can point to where tot start. I know for sure you will nleed the denial letter/form, as in any insurance you need that to respond adequatley to their claim on why they denied.

 

[anonymous]

I want to thank everyone for your responses. I do have to say that talking to you all about this has helped me A LOT. I am going to wait till our appointment with a specialist that treats CF patients and see what his take is on our situation. Then if I am not satisfied then I will go from there. I would like any info on how to appeal to our insurance so we can get the other blood test.

Just a note: I have 3 kids and I just did the lick test on all 3 of them and my son and youngest (who has also been sick, but not as severe as my son) seemed to taste like over load of salt. My middle was salty, but nothing compared to the other two.

Jenny

 

[Alyssa]

I hope you find that by going to the pulmonologist who specializes in CF you can get better information and possibly a diagnosis. Sounds like all your kids should be tested -- actually if somebody does test positive it is usually standard to have all the kids tested so keep pushing for that as well.

When is your appointment with the new doc? Please let us know what happens at that visit.

 

[lesley]

My son was also diagnosed as asthmatic, despite the fact I kept telling doctors he was not wheezing but coughing all the time. It was only when he was 16 that we saw a specialist who agreed that the wet cough was not really an indication of asthma. We had already seen the same specialist when my son was 12, so I kind of felt like screaming. I really wish now I had made a much bigger song and dance to get a better diagnosis earlier. so if you are not satisfied, keep pushing! Good luck.

 

[Alyssa]

Lesley -- my daughter was also diagnosed with asthma w/productive cough after her sweat tests came back at 38. Eight years later we finally got the genetic testing that showed two known genes -- sweat test was once again 38 !

 

[Alyssa]

Lesley -- my daughter was also diagnosed with asthma w/productive cough after her sweat tests came back at 38. Eight years later we finally got the genetic testing that showed two known genes -- sweat test was once again 38 !