CF testing?

[anonymous]

Hello,

my daughter was tested for CF years ago when she was a baby about 5 or 6 months old. I remember it was the sweat test and it was negative. I understand that there is a possibility of a false negative and would like to know if anyone knew the percentage of that possibility?

I am now considering doing another test but I want a blood one Which is best? We have pretty good insurance, they use to deny everything under the sun but now don't bother because they know I will appeal and have always won the appeals.

My daughter also has/had severe scoliosis. Before surgery she was at a 87% curve to the right. Lung perfusions during that time were 83% right lung, 17 % left lung. It was always thought that once the scoliosis was fixed so to speak that the lung function would improve. Unfortunatley that has not happened. A few months after the first surgery the perfusion results were 97% right and 7% left. This was in October of 2004. We haven't done anymore perfusions because our pulmonary doc says that it won't change anything to know the numbers I can tell you by listening to her she is moving no air in the left lung at all.

We do have the vest machine and just received a rx for pulmozyme, which I know are used primarily for CF patients. So I guess I want to be safe than sorry and have another CF test. We go to the doctor tomorrow and I was going to have them order the test for us.

I look over all her medical records and don't that they ever did a blood test when the genetic testing was done in 2000.

She also has an issue with the left main stem, it's closed off. So she is only using the right lung for any breathing. PFT's are horrible, last one 32% but a sat of 100 on room air which makes me think maybe she was blowing hard enough, because sats should be lower unless she is compensating very well.

Any and all information is greatlly appreicated. There are a ton of other medical issues 14 doctors in total for my darlilng six year old. We are faced with the possibility of more surgery for stinting of the left main stem and if not a candidate for that then taking the lung out all together which really scares me. She has surgery as it is every six months for the surgical rods on her back. I just want my baby to get a break.

Thanks again.

 

[anonymous]

Did not see your note until today (1/5) so perhaps you've already found out via your Dr. appt.

anyway, here's what I can tell you:

Sweat test results are in the form of a number. If that number is below 40 it is considered negative. 40-60 is considered a grey area. Over 60 is considered positive for CF. I also understand that a bunch of things can affect the results of a test and that testing babies can be pretty tricky since the don't necessarily sweat much to begin with.

On the blood test side of things, the "Ambry" test was the one that found the CF gene problem our son has (that's the company name) - his gene mutation was a rare one that was not detected in the standard tests that my wife and I took to find out if we were carriers (i.e. we got false negatives on the genetic test). The Ambry test detects a much larger number of gene mutations associated with CF than the off-the-rack model test. I believe there is at least one other company that does a similarly broad screening of the gene.

 

[anonymous]

quest diagnostics has an extended panel tests which test for over 1000 of the current known mutations of CF. Whereas other tests only analyze for 25-89ish of the MOST COMMON mutations, but NOT ALL the known mutations.

Julie (wife to Mark 25 w/CF)
www.cysticfibrosismaleinfertility.com

 

[anonymous]

DS got a 32 on his sweat test -- normal. Not inconclusive. Normal. But because he was born with a bowel obstruction, they did genetic blood testing which showed double delta f508.

 

[anonymous]

I appreciate the response. We spoke with our pediatrician who wants to run all this by our pulmonary doctor to see what should be ordered. She also said in babies it is very tricky so that she would run another sweat test and go from there to see if there was need for a blood test.

Piece of mind is what I am looking for. My daughter has major lung issues, for no apparent reason in six years. I would like to know if there is anything else we can do so she isn't always sick with some type of infection.

As I type I can hear her hacking upstairs. We finally got the pulmozyme after much debate with the insurance company and will start that tonight.

Thanks again for the input. I wil right down the name of those test so when we go to pulmonary again I can mention them.

 

[Alyssa]

Just wanted to chime in here with another low/normal sweat test numbers but later confirmed positive with genetic testing story.

My daughter tested 38

My son tested 41

Both have one DeltaF508 and one R117H gene

It took 9 years for us to get our daughter correctly diagnosed because of the "normal" sweat test results

Do whatever it takes to make sure you get the blood tests done.

 

[debs2girls]

Alyssa I thought we were having a difficult time getting a positive cf dx...they are still saying probable cf. The first doctor said she didnt think Cheyenne had cf because it is uncommon in african americans, that is why she didnt test for it when she was out of other reasons for her illnesses. She finally did test for it and we ended up with a dx of carrier. We had two possitive, one borderline and one neg. sweat test and one mutation.
The new doctor did another sweat test and it was borderline. He has done a chest xray that shows severe lung involvement and scarring. The stool elastase test shows that as of now, she doesnt need enzymes. He said the number had to be over 480 and hers is 500.
He said if it came back as her needed ezymes, we could definately say she has c/f, but if she doesnt, we are still in the gray area.....
Any suggestions on how to survive the turmoil?
Debbie

 

[anonymous]

I'd say be as pushy as you need to be to get them to order the genetic test. I've found that the biggest frustration in dealing with the medical (& insurance) establishment is that they take the approach that says to rule out the more common causes first rather than going straight to the more rare causes. And it usually makes sense - but when a situation has been going on for a long time it sort of misses the emotional stuff the patient or parent is dealing with, namely worrying about the scary & rare stuff. So it's time to press them to shift gears and start trying to rule out the more scary & rare stuff.

 

[Alyssa]

Debbie,

See about the possibility of the nasal potential difference testing -- it is kind of unpleasant but from what our CF doc said it is used to help diagnosis people when they have classic symptoms but only one identified gene.
Debbie,

See about the possibility of the nasal potential difference testing -- it is kind of unpleasant but from what our CF doc said it is used to help diagnosis people when they have classic symptoms but only one identified gene.

We did not have this done but the doctor did talk about it -- I did a little bit of research on it and found that there is still a borderline area on test scores, but the doctor still thought it was a very valuable/accurate test and would still show irrefutable results.

From what I understand they insert a small needle in your arm (much like having an IV only smaller I think), then stick a small tube up your nose -- you lean slightly forward while saline solution drips back out your nose -- takes about 30 minutes I think -- Not so sure a 5 year old would appreciate all that but maybe there could be some sort of good distraction like a special movie played on a portable DVD player or something......




We did not have this done but the doctor did talk about it -- I did a little bit of research on it and found that there is still a borderline area on test scores, but the doctor still thought it was a very valuable/accurate test and would still show results.

From what I understand they insert a small needle in your arm (much like having an IV only smaller I think), then stick a small tube up your nose -- you lean slightly forward while saline solution drips back out your nose -- takes about 30 minutes I think -- Not so sure a 5 year old would appreciate all that but maybe there could be some sort of good distraction like a special movie played on a portable DVD player or something......

 

[debs2girls]

Thanks Alyssa. Our dr did mention this too and he said it is not available around here. I cant remember where he said we would have to go....I dont know if that is an option for us financially right now, but when we go back on Feb 1st I will mention it to him and see what he says.
Thanks again,
Debbie

 

[debs2girls]

Alyssa, Cheyenne also has clubbing of her fingers.

 

[anonymous]

Reading this makes me more positive that we indeed need the genetic test. We had genetic testing done during this same admission when she had the sweat test for CF (mind you this was six years ago) but I don't believe that they tested for CF in the genetic test. I have the medical records and it doesn't mention that nor can I find any of the testing results for the CF tests I know of. They at the time were worried about down's syndrome or another type of syndrome because we did have one child with so many problems (pulmonary, orthopedics for her severe scoliosis and the missing thumb on left, hematology, neurology, neurosurgery with the tethered spinal cord, nephrology/urology.

I was thinking of contacting the old genetics doctor to ask if she had any records of the testing and exactly what was ordered, maybe I don't have all the records. She is no longer the medical director of genetics but is still at the hospital as medical director in the research department.

I just feel like we are missing something. They (many doctors/surgeons) said that bracing her back at an early age would stop the progression of the scoliosis and when I demanded options for surgery at age two when it was clear that wasn't working. I was told it wasn't bad enough for surgical intervention despite the information of her progressing scolioisis and lung problems. Pulmonary felt that her lung problems were as a result of the scoliosis, we now know that not to be the case as the scoliosis has been addressed by surgery (after going to five surgeons in pretty well named hospitals and eventually taking her to Texas where they did something for her). I know for a fact there is scarring on the left lung. I specifically remember the surgeon that performed her spine surgery saying that there was significant scarring on the left lung.

So I will push, push, push. I have learned to be the pushy parent over the years when medical personnel wasn't taking me serious and wanting to do the wait and see approach. I'm not much worried about our insurance, they don't bother denying many things after learning, I appeal everything and come back with information they weren't even aware of (or so they say) then they overturn. We were told that her scoliosis surgery would be denied at least three times but we got it once and then got a yes three days later upon appeal and a news story that ran in the local paper an on TV.

I've rambled sorry, I do appreciate the response. We were never told that African american patients were less likey to have CF maybe that is why this has not been pursued by at least two long time pulmonary specialist. We go to our new pulmo doc in February (I believe the 10th) hopefully I will get what I am asking for.

 

[julie]

Go get 'um mom!!!!! You've stated everything I would coach you to do and everything that has been said thusfar about testing. Push for a more elaborate genetic test too, like one from Quest diagnostics that tests for over 1000 of the known mutations. Other tests only do the 25-89 most common.

Either way, let us know what the results are and don't be a stranger!

 

[anonymous]

My son who is 20 has had several nasal pds- they arent pleasant but not too bad. He was in two studies where they had to be done. The test is complicated to administer for the dr- equipment is sensitive and I dont think a lot of places do them. We go to Childrens Hospital in Birmingham Alabama- Dr Clancy does most of them there. I am not too sure about a younger child tolerating this very well- I guess it would depend on their maturity and cooperation levels. Susan

 

[veptrmom]

Well I had a long conversation with our pulmolonologist last night and she says she really doens't feel there is a need for testing. She says that if my daughter was never tested it would be something that she would do to rule it out but she feels she was tested and tested at a reputable facility so when the results are negative they ae negative.

Well from being on this board, I know that when the results are negative that doesn't always mean just that. I'm not done pushing her but decided to push more when I have her in person. Even if she doesn't really believe my daughter fits into that category with symptoms (whatever that means because lungs have ALWAYS been a big issue for us) doing it to give me peace of mind would be worth it. Especially since we are in discussions with her and another surgeon on removing my daughters left lung all together because the main stem is collapsed and she is not moving air with the left lung. Plus all the infections associated with that. I would think before such a drastic move of taking the lung out they would at least humor me and do the test.

She's not going to know what hit here when we go in February, I will get a blood test.