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Topazbutterfly
- Thread starter anonymous
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Topazbutterfly
New member
<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i><br>Just wandering if you'd received the results of your ds's sweat chloride test yet? Prayers for negative! Please let us know. THanks!<hr></blockquote>
Hi ... sorry I haven't posted anything sooner, and thanks for asking. We did get the results and the sweat test was negative. The Pediatrician is considering him a carrier.
That should be terrific news, but the signs that I was seeing that something wasn't quite "right" even before I received the results of his newborn screening are still there. <img src="i/expressions/face-icon-small-sad.gif" border="0"> He is now 7 weeks and 3 days old. He didn't gain ANY weight in the last two weeks. NONE. He is still 8 lbs, 8 ounces. He was 7 13.5 at birth. He hasn't gained a full pound in over seven weeks and they want me to believe that there isn't anything wrong?
He has this cough/sneeze type thing going on, and when the Dr listened to him on Tuesday, she said she didn't hear anything and that unless he also got a temp, not to worry about it. However, this morning, he coughed up a chunk of mucus the size of a nickel. That is not normal to me. He was almost choking on it, and the thought that if I weren't holding him when he coughed it up scared the crap out of me.
He still has stinky diapers, and is eating like he hasn't had a meal in forever. There is something that isn't right, and if it isn't CF, then I want to know what it is, you know? Pretty much everyone here, including his Dad, is thrilled with the "he must be a carrier news" (you know, even though the screening isn't *supposed* to pick up a carrier). It's almost like they think I want him to have it ... when in reality I want an answer to what is going on with my baby. What scares me is the what if he is in the 2% that isn't diagnosed with a positve result and it doesn't get treated?? Any suggestions anyone??
Hi ... sorry I haven't posted anything sooner, and thanks for asking. We did get the results and the sweat test was negative. The Pediatrician is considering him a carrier.
That should be terrific news, but the signs that I was seeing that something wasn't quite "right" even before I received the results of his newborn screening are still there. <img src="i/expressions/face-icon-small-sad.gif" border="0"> He is now 7 weeks and 3 days old. He didn't gain ANY weight in the last two weeks. NONE. He is still 8 lbs, 8 ounces. He was 7 13.5 at birth. He hasn't gained a full pound in over seven weeks and they want me to believe that there isn't anything wrong?
He has this cough/sneeze type thing going on, and when the Dr listened to him on Tuesday, she said she didn't hear anything and that unless he also got a temp, not to worry about it. However, this morning, he coughed up a chunk of mucus the size of a nickel. That is not normal to me. He was almost choking on it, and the thought that if I weren't holding him when he coughed it up scared the crap out of me.
He still has stinky diapers, and is eating like he hasn't had a meal in forever. There is something that isn't right, and if it isn't CF, then I want to know what it is, you know? Pretty much everyone here, including his Dad, is thrilled with the "he must be a carrier news" (you know, even though the screening isn't *supposed* to pick up a carrier). It's almost like they think I want him to have it ... when in reality I want an answer to what is going on with my baby. What scares me is the what if he is in the 2% that isn't diagnosed with a positve result and it doesn't get treated?? Any suggestions anyone??
LindseyRose
Member
Did you have the testing done at a CF center?
Topazbutterfly
New member
<blockquote>Quote<br><hr><i>Originally posted by: <b>LindseyRose</b></i><br>Did you have the testing done at a CF center?<hr></blockquote>
Yes, at the Womens and Childrens Hospital of Buffalo.
Yes, at the Womens and Childrens Hospital of Buffalo.
I have to say, I would question the sweat test results. The symptons you listed sure sound like CF. I have heard that sometimes sweat tests on infants are not 100% relaibale. If I were you I would have a blood test done for both you and your husband to see if you are carriers of the gene. What you said about eating like there is no tomorrow really hit home with me. My son was the same way before he was diagnosed. I would feel so guilty because he was obviously so hungry, but it wasnt like I wasnt feeding him. I couldnt figure out why he ate so much and wasnt gaining weight. He would almost always have a bowel movement after he ate. I remember his bowel movements to be very large, grainy and smelly! I kept asking my pediatrician about it and was always told that all babies metabolism's are different and that is normal for him. I remember being told by a nurse that the bowel movements of CF babies can look like they are grainy, like oatmeal. Good luck to you, I know how hard the "not knowing" period is. It was almost a relief to finally be told he had CF, at least we had a diagnosis and a treatment plan. He thrived so well after starting on enzymes. He is now an active, athletic 11 year old and we couldnt be prouder of him!
Caren
Mom of Jordy
Caren
Mom of Jordy
Jen,
I'm sorry you still don't have answers. I would suggest requesting a genetic test through Ambry just to be on the safe side (tests for all known mutations). Also, I'd request a referral to a GI if he continues to not gain. If your dr won't listen, switch drs. I know that's all easier said than done but we are the only advocates our children have and it's their health that suffers. I get very irritated by drs who act pretend there's nothing wrong when there is obviously SOMETHING going on. Good luck and keep your chin up, you're doing a great job advocating for your child.
I'm sorry you still don't have answers. I would suggest requesting a genetic test through Ambry just to be on the safe side (tests for all known mutations). Also, I'd request a referral to a GI if he continues to not gain. If your dr won't listen, switch drs. I know that's all easier said than done but we are the only advocates our children have and it's their health that suffers. I get very irritated by drs who act pretend there's nothing wrong when there is obviously SOMETHING going on. Good luck and keep your chin up, you're doing a great job advocating for your child.
Topazbutterfly
New member
The thing is that everyone here for the most part all want to just accept that there isn't anything wrong with him. His Dad even had the audacity to tell me that I am "wishing it" on him and "jinxing him". I am trying so hard not to obsess over every little thing with him, but there is something that isn't right. His Ped, who my kids have been seeing for years, doesn't seem to be worried about the lack of weight gain ... when I questioned it, she increased his calories on the formula and suggested that I add a teaspoon of cereal to his bottles too. I called and made an appointment for him to be weighed in two weeks, because I am not comfortable with waiting until his next check up to see if he has gained.
Jen, next time try to get in with a CF doctor who sees babies instead of your pediatrician. Even though pediatricians are doctors and have done all the schooling, they seem to have a serious lack of education when it comes to CF. I have heard horror stories of situations like that over and over again on this board, and only because the parents were persistent and not stopping their quest because some doc said "it's not CF" (i'd like to know who made them God anyways), were their children ever properly diagnosed.
If you know somethings not right, then it's not right. Maybe it isn't CF, maybe it is something else, but if you say it's 'something' then go with your guy.
I will be praying all goes well for you and you get the answers you are searching for.
Julie
If you know somethings not right, then it's not right. Maybe it isn't CF, maybe it is something else, but if you say it's 'something' then go with your guy.
I will be praying all goes well for you and you get the answers you are searching for.
Julie
Topazbutterfly
New member
<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i><br>Jen, next time try to get in with a CF doctor who sees babies instead of your pediatrician. Even though pediatricians are doctors and have done all the schooling, they seem to have a serious lack of education when it comes to CF. I have heard horror stories of situations like that over and over again on this board, and only because the parents were persistent and not stopping their quest because some doc said "it's not CF" (i'd like to know who made them God anyways), were their children ever properly diagnosed.
If you know somethings not right, then it's not right. Maybe it isn't CF, maybe it is something else, but if you say it's 'something' then go with your guy.
I will be praying all goes well for you and you get the answers you are searching for.
Julie<hr></blockquote>
Thanks so much Julie for your encouragement. I am going to call on Monday about getting a referral to another doctor. I want another opinion. I need another opinion. The sweat test can diagnose 98% of all CF patients. But that means that two out of 100 AREN'T able to be diagnosed that way. So, my next question is ... what OTHER tests are there?
Side note ... my younger sister and her friend were here today. I don't talk to her terribly often, and she has only gotten a quick overview on what's going on with Zach. She knows nothing about CF ... no signs, symptoms, complications. So, I had her lick her lips and kiss him. SHE TASTED THE SAME SALTY TASTE THAT I DO!!! From what I have read, that is a CF only trait right??
So, now what?? How do I get him seen by someone else that is actually educated in CF??
If you know somethings not right, then it's not right. Maybe it isn't CF, maybe it is something else, but if you say it's 'something' then go with your guy.
I will be praying all goes well for you and you get the answers you are searching for.
Julie<hr></blockquote>
Thanks so much Julie for your encouragement. I am going to call on Monday about getting a referral to another doctor. I want another opinion. I need another opinion. The sweat test can diagnose 98% of all CF patients. But that means that two out of 100 AREN'T able to be diagnosed that way. So, my next question is ... what OTHER tests are there?
Side note ... my younger sister and her friend were here today. I don't talk to her terribly often, and she has only gotten a quick overview on what's going on with Zach. She knows nothing about CF ... no signs, symptoms, complications. So, I had her lick her lips and kiss him. SHE TASTED THE SAME SALTY TASTE THAT I DO!!! From what I have read, that is a CF only trait right??
So, now what?? How do I get him seen by someone else that is actually educated in CF??
NoDayButToday
New member
<blockquote>Quote<br><hr>So, my next question is ... what OTHER tests are there? <hr></blockquote>
The Ambry (sp?) Genetics blood test is probably the next step. It tests for all of the mutations of the CF gene (or at least a GREAT majority of them). If I were you, I would definitely keep pursuing.
About seeing someone very knowledgeable in CF-- even if Buffalo is a CF center (as in they treat CF patients), they may not be a CFF accredited center, and therefore not as up to date on diagnosis and such. If you want, you can do a search on cff.org for CFF accredited centers in your area
The Ambry (sp?) Genetics blood test is probably the next step. It tests for all of the mutations of the CF gene (or at least a GREAT majority of them). If I were you, I would definitely keep pursuing.
About seeing someone very knowledgeable in CF-- even if Buffalo is a CF center (as in they treat CF patients), they may not be a CFF accredited center, and therefore not as up to date on diagnosis and such. If you want, you can do a search on cff.org for CFF accredited centers in your area
Topazbutterfly
New member
I had Zach to the Ped this morning for a weight check, which I insisted on. He did gain almost a half pound in the last two weeks since the doctor has me mixing his formula differently and adding cereal to it as well. When I asked AGAIN about his cough that makes him sound almost as if he has been smoking for years and is causing him to cough up globs of mucus the size of a penny or nickel, she wanted me to take him for an x ray. Now, if he has CF (which despite the negative sweat test, I believe he does) does anyone know what differences may there be in the xray vs that of a non cfer?
Thanks for any input!!
Thanks for any input!!
That is wonderful that your baby gained the 1/2 pound! Keep insisting on weight checks though. A babies weight can very due to when they last ate, etc. My children's pulmonologist says the average x-ray technician will not see anything different from a cf baby's x-ray compared to a baby without cf. CF babies are not born with lung disease. It is gradual. That is not to say that some babies don't start have some lung issues as infants, they do. An x-ray at this point could show mucus in your child's lungs. That is not to say that any baby with congestion won't have that. Maybe your child's doctor is trying to rule out pnuemonia.
I have a three-year old and a one-year old and they both have cf. My daughter has never had a regular cough. My son was born with a loud, barking, dry cough. After a bunch of tests, I honestly think it had to do with reflux. Once he started sitting up and also started taking Prevacid the cough got much better.
Also find out what his score was on the sweat test. Some times it can fall in the grey area "40-60", parents are not informed and the test should have been done again. I would take your son to see a CF pulomonigst at the local cf clinic, get an Ambry test run and possibly another sweat test to try an eliminate any possiblity that your child has cf. I have heard of a few parents whose children never get a cf diagnosis, but their doctors still treat the symptoms (i.e. enzymes for weight gain).
I know what it is like hoping the doctors find something wrong because I knew something was not right with my newborn. She was very hungry, taking about 35-40 ounces, many bowel movements per day (about 15) and no real weight gain. My daugther was five weeks old when she was diagnosed and her diagnosis gave us the answers we were looking for.
Sounds like you are doing a great job in not taking no for an answer! You are your child's best advocate!
Sharon
I have a three-year old and a one-year old and they both have cf. My daughter has never had a regular cough. My son was born with a loud, barking, dry cough. After a bunch of tests, I honestly think it had to do with reflux. Once he started sitting up and also started taking Prevacid the cough got much better.
Also find out what his score was on the sweat test. Some times it can fall in the grey area "40-60", parents are not informed and the test should have been done again. I would take your son to see a CF pulomonigst at the local cf clinic, get an Ambry test run and possibly another sweat test to try an eliminate any possiblity that your child has cf. I have heard of a few parents whose children never get a cf diagnosis, but their doctors still treat the symptoms (i.e. enzymes for weight gain).
I know what it is like hoping the doctors find something wrong because I knew something was not right with my newborn. She was very hungry, taking about 35-40 ounces, many bowel movements per day (about 15) and no real weight gain. My daugther was five weeks old when she was diagnosed and her diagnosis gave us the answers we were looking for.
Sounds like you are doing a great job in not taking no for an answer! You are your child's best advocate!
Sharon
My daughter's first x-rays showed atelectasis (sp?). This is more common with CF children. As Sharon said, it is a build-up of mucous in the lungs. I believe I read that in CF babies it is more common in the right upper and middle quadrants of the lung. That is exactly where it showed up with Samantha. The x-ray might also show some hyperinflation of the lungs, although this is more common as the disease progresses.
Maria (mother of three daughters, the youngest Samantha w/cf)
Maria (mother of three daughters, the youngest Samantha w/cf)