I just had some questions and I hoped maybe I could find some answers here. Our daughter was recently hospitalized for some type of respitory issues. One doctor said he thought she had pneumonia, one said no pneumonia, one said pertussis(whooping cough)that came back negitive, so they decided that she must have slight pnumonia, but they were not sure.I don't know much about this but I know that her o2 sats were in the mid 80's, and they were totally paniced, we have since got them to stay as high as 95 without any oxygen, which seems to be acceptable but not desirable. She was so sick though that they said said something more serious must be going on. For a questionable pneumonia she was very sick, they were going to tansfer her if they didn't start to see improvement soon. She was on a fast track down hill. She did get better finally. Now they are going to test her for cystic fibrosis with a sweat chloride test, they say to rule it out, I guess they say because of the combination of this recent hospitalization and also some digestive problems that she has been having. I guess I have just come here to find out what exactly cystic fibrosis is, please forgive me for my ignorance on the subject, they don't really cover this anywhere so untill now I have never really thought to research it. Also I think I have come hopeing to hear that this doesn't really sound like cystic fibrosis. Mostly I just want to hear opinions from real people, the doctors always seem like they are hiding something or just not giving us all of the information. Thanks for any help.
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
being tested to rule out cystic fibrosis
- Thread starter anonymous
- Start date
Hi,it's hard to tell from far whether this could be cystic fibrosis or not. The sweat test is still the gold standard, but is has to be done at a specialized CF clinic. I've heard too many sad stories about children, who went undiagnosed for a longer period of time just because one stupid nurse or doc did the test wrong. And once you have a negative result in your files it's hard to get a second test done.If your docs tell you that one can rule out CF with a sweat test, then it's obvious that they don't have a clue. A positive sweat test (if it's done correctly) is a 99% proof for CF. There are only a few other rare complications that lead to elevated sweat scores. But a negative sweat test doesn't tell much because there are hundreds of CF mutations that lead to negative or borderline sweat tests.If I were at your place I would ask for a genetic test. It's just a small blood draw and you have a result within a few weeks. Just look at www.ambrygen.com or www.questdiagnostics.com for details.And if you want to talk to others in the same situation and hundreds of parents whose children have CF, then go to www.cfparents.org and join our large mailing list.PeaceTorsten, dad of Fiona 7wcf
It's good that they are doing a sweat test and from what I've read here, a CF Center is the best place to do the sweat test, because they test for ALL mutations, whereas some Dr that has limited experience w/ sweat test may not check for all mutations.One way you could do your own "sweat test" to check for CF is just by licking your childs arm, does she taste salty? The only time she may not taste salty is for a few hours after bathing.If her stools are loose & foul smelling & she can't seem to digest grease, those can be signs too.I certainly hope she tests negative for CF, but please know that if she does have CF & starts to get proper treatment for it that she will feel sooo much better. There are so many advances in CF too these days, that possibly in her life time there may be a cure, if not, there will be advanced treatments developed.Please keep us informed on how the test results come out. This is a great place to come for support/info.
<blockquote>Quote<br><hr><i>a CF Center is the best place to do the sweat test, because they test for ALL mutations, whereas some Dr that has limited experience w/ sweat test may not check for all mutations.This is a great place to come for support/info.<hr></blockquote>Checking for mutations with a sweat test?. Yeah, that's a great place for info here, LOL!
To the poster listed above, please take the time to read the following article. http://www.pulmonologylinx.com/thearts.cfm?artid=322461&specid=14&ok=yesI know that you are much smarter than me, but thought I'd try. Actually, I thought I had read in one of the discussions on this message board about a parent that had a negative sweat test because they didn't evaluate the sweat for all mutations??? What do I know anway? Just trying to help
Hi,a CF center is the place to get the sweat test because they have more experience administering it than a local hospital would. The sweat test can be tricky to do and some places make a real mess of it. the mutations are found in the genes usually via a blood test or a cheek swab. There are several different tests and some, like the screening test, only test for the 25 most common mutations. there are over 1000 known mutations for CF. Many people have been told that their child doesn't have CF because the mutations don't come up on the basic screening test, but then later find out that the child does have CF but has a less common mutation.To the orginal poster and anyone else who is interested, please feel free to check out our web site at http://groups.msn.com/TeamRachelJane most of the info I have there is geared for people who are just learning about CF. Most of it is from personal experience or the experiences of those I know with CF.I hope that it is not CF.Andrea
To prepare you, it sounds like CF to me, only because that is almost identical to what happened to my daughter but their are many conditions that can be confused with CF so you cannot be sure until the sweat test is done. My daughter is enjoying life to the fullest. I know you might feel like it's the end of the world if the test comes back positive for CF but it has made me a mother I know I wouldn't have been had I not been faced with CF. You'll do the very best you can and that makes for children who know they are loved unconditionally. Even if the test is negative, I bet your relationship will be stronger and closer because you faced the possibility of CF. We'll be praying for you.
To the last poster who said that this is almost identical to what you experienced with your daughter, did she have the same respitory type of problem? Was this her first time with this problem? I'm sorry to ask so many questions, if you don't want to answere them I will understand. It's just that when I look back I wonder why she wasn't tested while she was in the hospital. Maybe they just had to put all of the symptoms together to come up with this, but it's just frustrating because when they asked if she had any other stuff going on I told them all about everything, which at the time I did not know anything about cystic fibrosis, but I just wish they would have already tested her so that I would not have to be worrying about it now. The more I read about this I see so many stories of moms who had to tell the doctor to do this test, so I guess that we are lucky to be getting it done at all, well not really lucky I guess. I just hope it is negative!
Hi again, I have the daughter who had similar problems. She became very sick when she was 3 1/2 months old and was hospitalized, the doctor from the after hours clinic saying pneumonia. Once in the hospital, another doctor said it was not pneumonia, that it sounded like pertussis, she was tested for that and it was negative. Her o2 sats were also in the mid 80's and it took her a while to maintain 98 or so on room air. She was born with a meconium plug and a friend had mentioned the words Cystic Fibrosis to me at that time but I had never heard of the disease and her doctor said no, it was not that, but in the hospital I started to wonder what it was and if the lungs could be involved. Well, the doc who was so sure it was pertussis told me what he knew about it, which was not much and I asked for the test before I took her home. He made it clear that he thought that was ridiculous but asked for the test to be done. The hospital had no idea what they were doing, in fact the person giving the test told me, "This baby doesn't have CF, I would be able to see it in her eyes." They couldn't figure it out. I came back with her three days later when someone else was there to give the test, this person couldn't get enough sweat so the doctors( 2 pediatricians) told me that she was fine( although she could barely catch her breath for the constant coughing!) and they would consider doing another test in 6 months if she had another lung problem. Well, I had other ideas, and I got her to a CF clinic where she was admitted, sweat tested properly and found to have Cystic Fibrosis. She was under 11 pounds when she turned 4 months old and having a lot of stomach pain. That combined with the "pneumonia" or whatever it was and her history of the meconium plug were obvious symptoms. The doctors locally just weren't interested in finding out what was really wrong with her. We still don't trust any doctors locally or the hospitals for that matter. You have to go where people take you seriously and want to help, and if they can't , they should send you to someone who can. Treatment is all we have and the earlier it's started, the better. If you have any other questions, feel free to ask. B.
It is amazing how that is exactly the same story. I feel like I was just reading our own experience. We did not have the meconium problem at birth. The only thing she had at birth was she had her stomache pumped, and I don't even know why, I was out of it and when I asked later no one seemed to know, maybe it's just common. Anyways, she was always a fussy baby like she was uncomforatable, doc said maybe colic, but they never did much about it, at a few months old I took her in for having so many dirty diapers a day, again brushed off, then when she was on all solids I took her back in for what I said looked like undigested food in her diaper. it was like it just went right through, you could almost just look in her diaper and know what she had eaten, again brushed off. When she was old enough to talk she started complaining of stomach pain, at first I thought it was just an excuse for me to carry her, but when it persisted I took her in, "kids get stomache aches" that's what the doctor said. Frustrated I changed doctors. The next doc did an ultrasound and said it looked fine and that she may be just saying that as an excuse. A few months later, still stomache pain, we went back, again brushed off. Madder than ever I was about to change again, but that was when she got so sick with the pneumonia/pertussis/??. A few days after she was released a friend asked if she had been tested for cystic fibrosis, I said I didn't know and I also did not know what it was. I asked the doc who seemed mad that I brought it up. I think she has had it with me, so she refered us out to a pulmonologist and a GI doctor. The first thing that each of these doctors said when I told them all of the things going on was "has she been tested for cystic fibrosis? Why not?" So that's where we are now she will have her test soon. These new doctors seem like they really want to help, not just see their patients assembly line style. Thanks for answering my questions.
You're welcome. It's terrible how some pediatrician's brush you off. I still wish I could say something to the one's in our case that were like that, but with the know it all (when they really know very little) attitude they have, I don't think it would make any difference to them how I felt. I just stress to parents of any child, CF or not, that if you think something is wrong with your child, you're usually right and you have to shop around until you find those good doctors. They are out there, we have two right now that are superb. We were told colic, too! Her poor little tummy was in agony and had they just tested her at birth because of the meconium plug, she would have been a lot more comfortable her first few months. I hope so much in your case that it is not CF but if it isn't, please don't feel like you overreacted, you are doing the right thing! B.