Desperate for answers!

[rhiannahm]

I have a 6 month girl who's been on breathing treatments since the 2nd day of November, 2005. She has chronic coughing and wheezing, we've had numerous amounts of tests done on her to check for allergies, rsv etc etc. She does have reflux which I hope and pray is the cause for the coughing and wheezing. Her ped. is sending her to a specialist at LeBonheur in Memphis next month for he is to the point where he just doesn't know what else to do. She's 6 months old and was 3 weeks early when she was born weighing in at 5lbs 12 oz, but her current weight is 18 lbs.

She was tested for CF when she born and the tests came back normal. But she will be re-tested next month when we go to the specialist. She eats and sleeps great. She's developing mentally and physically just like she should be and she is such a happy baby.

My question is...........if someone may know or just offer advice. What are the chances that she has CF, although she has already been tested, with normal results and is a perfect baby otherwise??

I'm new and I'm terrified for her.

~*Rhianna*~
~*Arlee 7-14-05*~

 

[Emily65Roses]

Well just for one, CFers develop normally mentally unless there's an additional unrelated problem.

Whether or not your daughter has CF is unsure. If they sweat tested her and it came back normal, it's still very possible she has CF. I've heard of people on here who were tested 4 or 5 times before they finally got the correct CF diagnosis. You can get a false negative but you cannot get a false positive. So if she tests positive somewhere along the way, that's it, she has CF.

If this test still comes back normal and you want to rule out CF for sure, try a genetic blood test instead of just the sweat test. That's often more reliable because many many doctors don't know how to administer the sweat test or read the results correctly.

 

[julie]

That infant blood test they do at birth only test for about 25 CF mutations. There are over 1000 KNOWN CF mutations and more discovered in research all of the time. Is this specialist at LeBonheur in Memphis a CF specialist or a pediatric specialist? If it is not a CF specialist clinic (accredited by the CF Foundation <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>) the likelyhood of having an ACCURATE test is pretty low. I would highly recommend a sweat test AND if your insurance will pay for it, an expanded CF mutation test. I would recommend Quest Diagnostics, here is their website/direct link to the CF testing <a target=new class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html">http://www.questdiagnostics.com/hcp/topics/cf/cf.html</a>.

As Emily stated, a number of people on this site had repeated negative sweat tests and then either had a positive blood test (either the 25-89 mutation panel or the extended panel) or finally had a positive sweat test. CF is a very tricky disease to diagnose, especially if someone doesn't have one or both of the most common CF mutations. Most people choose sweat tests first because #1, insurance is more likely to pay for that and #2, sometimes people who have had blood tests that are negative and show nothing DO have a positive sweat test, leading researchers to believe many more CF mutations exist and a person who has a negative blood test but a positive sweat test has ond of those rare mutations.

I hope that helps a bit. I've probably just confused you more though. It's understandable that you have a lot of questions so ask away.

 

[rhiannahm]

Well, I don't know which test they'll do, whether it be the sweat test or the blood test. But, we are going to a specialist and Lebonheur is a very accredited children's hospital, so I feel pretty comfortable in taking her there. I feel like she's already had the sweat test they'll probably do a blood test. But, would they do a sweat test on a newborn baby?? We hadn't even left the hospital when they did the first test. I've requested for her medical records so I'll have everything the dr. needs when we go. I just wish we didn't have to wait so long.

~*Rhianna*~
~*Arlee 7-14-05*~

I think we were posting at the same time, thx for all the info. I'm gonna go ahead and keep my appt with Lebonheur and if I'm not satisfied or still unsure I'll make another appt at a cf center. I don't care about cost, but I want to hear what all her dr.'s have to say.

 

[Emily65Roses]

<blockquote>Quote<br><hr><i>Originally posted by: <b>rhiannahm</b></i><br>Well, I don't know which test they'll do, whether it be the sweat test or the blood test. But, we are going to a specialist and Lebonheur is a very accredited children's hospital, so I feel pretty comfortable in taking her there. <hr></blockquote>

I hate to beat a dead horse, as it were... but there's a difference between a good children's hospital and a children's hospital properly equipped and staffed for CF patients. I don't know anything about your hospital, but there are many good hospitals out there that I'd NEVER go to. I hope everything works fine for you at your hospital, but if you wish to look up whether or not it's CF accredited, or find a hospital near you that is, try this link:
<a target=new class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/
">http://www.cff.org/chapters_and_care_centers/
</a>
Hope it all works out well.

 

[anonymous]

The good news is that your daughter?s weight is very good for a 6 month old. It shows that her pancreas is working well now. Hopefully that means she doesn't have cf. But there are also quite a few children and adults whose pancreas works well and they have cf. They also tend to carry the least common cf genes. I think you should continue testing for cf despite the fact her weight is good. What can testing hurt? It can hopefully answer questions. My son has cf and he had a cough his first year that was caused by reflux. As soon as we started Prevacid solutabs (they dissolve in the mouth), my son's cough went away.
Sharon, mom of Sophia, 4 and Jack, 2 both with cf

 

[rhiannahm]

<blockquote>Quote
<hr>I think you should continue testing for cf despite the fact her weight is good. What can testing hurt? It can hopefully answer questions. <hr></blockquote>

exactly. That's my main objective. I just want to know what is wrong. No matter what it may be, whether curable or incurable.

~*Rhianna*~
~*Arlee 7-14-05*~

attached is a pic of my baby gurl!