Hi,I am the mother of a beautiful little girl named Grace. Grace has been tiny since birth and has had trouble with bowel movements as well. Her first pediatrician told us that it was my breast milk and then when I stopped nursing her it was that we didn't feed her enough (she was eating 3 jars of gerber#3 food at a sitting) We changed pediatricians and her new Dr had been seeing her every three months from last jan through this jan to weigh her, listen to her and check her anus (she had a fissure from persistant diarrhea) In jan he asked us if we wanted to start ruling out disease and we said yes. He had a whole bunch of tests scheduled including a sweat test. The sweat test came back borderline and a repeat test was scheduled which came out borderline as well. We are completely in limbo. We have no idea as to what this means exactly, no idea of what to expect. He seems so reluctant to give information. She is scheduled to see a gastroenterologist in a few days. Can someone please give me any insight as to what the borderline result actually means? Please we are desperate as Grace is 32mos and her sister is 17mos.I appreciate any comments and advice. I just don't know where else to turn!<img src="i/expressions/face-icon-small-sad.gif" border="0">Please feel free to e-mail me at atagirrll@cs.comThank you so much,Melissa
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Questions about the sweat test
- Thread starter Mbeasley
- Start date
Hi, I feel for you and your posting brought me back to the days when we were trying to determine what was wrong with our daughter. Our test results were not borderline, so I don't have any information on that, but I think you really need to talk to your dr. and express how you feel. You and your husband can have genetic testing done to see if you are carriers. If one of you is not a carrier of the CF gene then she cannot have CF, as you both need to carry the gene. I believe your daughter can also have a blood test done which may be more conclusive, but someone else in this site may be able to help you more on that information.Our daughter was very tiny for her age as well and had frequent bowel movements, so I know what you are going through. I know this cannot be easy for you but be persistant with the doctors until they find out what the problem is.Best of luck to you and your family.
Hi, If your little Grace has CF she must have have 2 copies of a mutation. There are over 1000 mutations known now, with 25 or so more common ones. It is possible to have your baby girl take a blood test and screen for these more common mutations. If the test comes back showing that she has 2 mutations then she has CF. If it does not, then it is still possible that she has a rarer mutation and so continuing with the sweat test is one way to find out for sure. The genetic test may or may not be covered by insurance (it cost us about $325)- often it will be if you can show the insurance company proof that the disease was suspected. Good Luck.Lisa
If you're in the US, request the Ambry genetics test. It screens the whole strand and identifies the rare mutations. It's a little more expensive but should be covered by ins. (ours was). It is very possible to have CF and have a borderline or even negative sweat test, that's why I'd recommend the Ambry test. But, it's also more common that a borderline result is not cf than that it is. Also, the rare mutations are more likely to cause the borderline or negative sweat test results so you definitely want to screen with the AMbry test since it checks for the rare mutations. Does she have any respiratory issues? (Ie lungs, sinuses, etc?) Good luck!
AbsintheSorrow
New member
I don't know much about the borderline sweat tests, mine was conclusive. However, you really need to do something about this. First of all, fissures are a very painful bitch, and the faster you get this taken care of, the less she may have trouble with them in the future. As a parent of a "sick" child, you need to learn to get pushy with doctors. They're almost always reluctant to give information. You need to be pushy and demand to know what's going on with Grace. I mean it. My parents didn't know right away, but they learned, and so did I. I speak up for myself now. Before they do anything to me, I ask what it's for and what it'll do for me. If I need something, I make it thoroughly known, and make them do something about it. You have to. That would be my best advice. Learn to make sure you get what you need (information and tests and results) for Grace.
Thanks so much for all of the feedback. I have made notes so when we talk to the specialist on Monday I will at least seem to have a clue. I will be forcefull! I can't take it not to be anymore.Grace doesn't seem to have respitory problems, it's just mainly the bowel movements. She also seems to get tired fast. She want's to lay down a lot (for a 2 1 /2 year old).If it weren't for the bowel problems we would just think she is small. Her 17 mo sister weighs 2 lbs less than her. Someone told me that when it's CF the bowel movements are whitish, I can't find anything to support that. Grace's sometimes look like chocolate pudding, or is thin and green and mainly absorbed into the diaper, sometimes have an oily sheen, often get all over the place. Also - suffice it to say that saying they stink is an understatement. If she doesn't go for a day or two, one hard chunk comes out followed by diarrhea. She also constantly has a rash that we can't get rid of. Her anus is continuously irritated and it hurts her to go. We really hope that the gastroenterologist will help get us on track and get a diagnosis that we can start treating. Again - thank you all for your information and advice. I appreciate this so much!
Melissa- Sorry to hear about what your family is going through. You mentioned that your daughter's bowel movements often absorb into the diaper and it is shiny (oily). This oil is a sign of malaborstoption (undigested fats). It is one indication of cf. Before my daughter was diagnosed at five weeks old, I did not notice the oil. It had to be pointed out to me after she was diagnosed. Now when I observe the oil, it tells me that the enzymes need to be increased. Anyway, the oil is often yellow or orange like what you would think cooking oil would look like poured into the diaper. Hope you find some answers soon. Sharon, mom to Sophia, 2 and Jack, 6 months, both with cf
hello to all and again thank you so much for the info. We met with the specialist yesterday and she ordered a chromosome test and said we should know within two weeks. She said she thinks that there is something else going on other than CF and also ordered an endoscopy so that she could get tissue samples from here esophagus, stomach and small intestine. It's refreshing to have help and it's also great to know that in 13 days we should know for certain if Grace has CF or not. She said that because Grace has no respitory symptoms and appears to be otherwise healthy (besides low weight and diarrhea) that it's most likely a very mild case or not at all. For the first time since her first sweat test 9 weeks ago we see hope!! Thanks so much for the encouragement!
Grace Update.We got her results back yesterday and they came back negative. Praise God! Thanks to all of you. I had read many of these threads while looking for information and you are all so wonderful and positive and encouraging. The light in the darkness. Never stop - you truly bring hope and comfort to those just finding out that something is amiss with their child. I will never forget how truly wonderful other parents and CF patients are. We live in the Nashville, TN area and have found some of the nicest people at Vanderbilt Children's Hospital. Between them and my church family and other kind souls, we have found our family to be truly blessed. We were so impacted by this disease, my husband and daughters have decided to help raise money to fight this! In the meantime hopefully we will find out what is causing Grace's problems and begin treating them! God Bless!
Ohhhh I so know what you are going through. My son 18 months was diagnosed in Dec. He didn't have severe signs and it took me finding a Dr who finally looked at his chart that had been in front of all their faces since he was born, I looked at him and said my child is ALWAYS sick I want to know why and kept pushing. We did the sweat test I thought just to rule out the worst and then found out he had all the symptoms all along I just didn't know. They did tell me that sometimes tests are borderline which just means the salt count is supposed to be in a certain bracket and with cf it will be real high...her's was probably just a little above norm. You can also have yourself tested by a blood test and your hubby to find out if you are carriers ??? GOOD LUCK ON MONDAY
my son will be tested in may for cf and i am terrified. he has all the symptoms except being small. the only thing different on him is he is big, he has gone off the growth charts but he doesn't eat much. he loses his appetite very often. i want to ask you, after getting the results did anything change (dramatically)? is it scary to hear this news? i am so terrified to find out, but they have run so many tests ans so many medications and they can't get him to stay healthy for a whole month. <img src="i/expressions/face-icon-small-frown.gif" border="0">he is followed by a lung specialist that he sees every three months but they have never run tests. he developed asthma after all the respiratory infections, so thats why he follows up with him. but i have researched cf and of all the things that i read, i find in my 2 year old son. should i be so terrified?
<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i>my son will be tested in may for cf and i am terrified. he has all the symptoms except being small. the only thing different on him is he is big, he has gone off the growth charts but he doesn't eat much. he loses his appetite very often. i want to ask you, after getting the results did anything change (dramatically)? is it scary to hear this news? i am so terrified to find out, but they have run so many tests ans so many medications and they can't get him to stay healthy for a whole month. <img src="i/expressions/face-icon-small-frown.gif" border="0">he is followed by a lung specialist that he sees every three months but they have never run tests. he developed asthma after all the respiratory infections, so thats why he follows up with him. but i have researched cf and of all the things that i read, i find in my 2 year old son. should i be so terrified?<hr></blockquote>sorry my name is myshel