Hi - my daughter is going to be 5 yrs old in July. She is small for her age, eats like a pig and every half hour or so and is gaining weight slowly but surely. She has had over 12 months of chronic diarrhea with no known cause (dr says diarrhea prominent IBS)(stools are pale, bulky and tons of gas and bloating). She does have a history of chest colds and chronic phlemy coughing but not severe enough to really raise red flags. She simply goes on puffers from time to time to help clear the wheeze. Last week, as a last resort, Dr. ordered a sweat chloride test which took half an hour! We are still waiting results but I am so worried. She has other minor developmental delays and behaviour issues too! We are now noticing our 1 yr old son developing chronic diarrhea(2 months now off and on) as well and he has been diagnosed with cold related asthma and is often taking puffers. I do not notice anything more than a slight salty taste to either of their skin. Do you think I should have our son tested even inf my daughers results are negative or am I just being an over protective mom? Can someone have CF and not be diagnosed until 5 yrs of age? We have no known family histoy either.<img src="i/expressions/face-icon-small-confused.gif" border="0">
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your expert advice please!!!!
- Thread starter anonymous
- Start date
Hi, My name is Liza. I have two daugters with CF. My oldest was not diagnosed until the age of 3 and a half, just one week before our second daugther was born. Yes, diagnosis can be delayed. We too did not have a history of CF on either side of the family. In fact her pediatrician was just doing the sweat chloride test to "rule" it out, covering all the bases as he said. He had her tested twice at two different clinics because he was so sure that it wasn't CF. He was just as shocked as we were. Your sweat chloride test shouldn't take that long to get the results back. I am surprised that they haven't tested for it sooner. Has your daughter seen a gastrointerologist (GI doc)? Your tests should be back soon. I'd wait to see what they are. If she does have CF have your son tested right away since he is having the same problems now. Ask to see a GI doc if they haven't sent you to one. If the stools are bulky, fatty, greasy, and foul then there is something GI going on and they should be able to get it under control. I should think they would be able to. The reason the sweat test took half an hour is because they need to get ample sweat to test. I'd say give them a few days. If the test was done early last week, then give them to mid week this week then call them for the results, if it was done late last week then give them a call at the end of the week. That's plenty of time in my book. Was the test done at a CF center? Do you know? If it was done at a children's hosp. then it most likely was at a CF center. Many CF centers are in a Children's hosp., some are in a University Hosp. Hang in there and let us know what they've come up with. Liza
To the first post and the question about being diagnosed at age five. People are being diagnosed with CF even in their late teens and twenties, some even older. For many it has been a relief to have an answer to what had been plaguing them their whole life. As for there not having been any previous family history, well that is normal. I come from a family where I have over 70 cousins, I have 4 aunts and uncles who are carriers of the gene and yet of all I am the only one to have CF. So it is not unusual to have no previous experience. Then we also take into consideration that a child could have died in the early 1900's from it and we would never know. The thing about autosomal recessive diseases/triats, is that they skip generations and can show up from out of the seemingly clear blue. I hope they can find help for your daughter. I don't hope that it is CF, but as a person who has spent 26 years with it, it can be a bear but yet it can be a blessing, in the sense that it makes one so much more aware of the goodness in life. My parents have always told me that when I was diagnosed, at 18 months, it was a relief because they had an answer and from there they could help me. Good luck, keep us posted.
It shouldn't have taken that long to get the results. I'd call back today for your piece of mind. Chances are they received them and just didn't look at them. With our son's sweat test, we had the results back about 3-4 hours after the test. Our daughter was tested late in the afternoon & we were told it would be the next morning before we got the results; however, our dr wasn't in so we didn't get them for 2 days. They should already have the results - call them! Good luck, I hope it's not cf.
Yes, I agree..Usually on a sweat test you can have the results on the same day. Also researchers have found so many mutations...some less severe that people dont show any symptoms until later in life. I was diagnosed at around 6 weeks of age....lots of probs when I was born. I also come from a huge family on both sides....and I was the first one to have CF. My mom had 2 brothers and 5 sisters...all but one of them had children.....at least 2 in each family...and one of her sisters even had 8 kids. My dad is one of 6 kids....also all with children. So...unfortunately there doesnt need to be any previous family history. Good luck with the test results...let us know how they come out.Dea
Hi folks..... this CF is all new to me. Just two weeks ago, both of my future step daughters was diagnosed at Geisingers childrens hospital in Danville, PA. They are emily 2yrs old,, and bethany at 4 yrs old. I am also a medic, so I have been doing a lot of reading and listening to different doctors, and picking their brains for information. Although CF is a really tragic and sad situation, we have to keep in mind that until 1989 they really didn't know much at all about it. Bethany has had symtoms for a few years and even had the sweat test done 2 years ago and it came back neg. It was not til emily's rectum prolapsed, that the doctors sent us to a childrens hospital to get answers. Although we are very saddened that they both have CF, we are very grateful to know what the problem has been and we can now figure out how to deal with them. They cried and cried in belly pain for a long long time and dropping to their knees holding their stomuch. Stools were not formed,,, very greasy,,, smelly,,, and they always floated in the toilet. We even told the doctors this, but since there was never lung troubles,,, they never put two and two together. They have come a long ways with research recently and I am praying that they keep finding more and more out about it..... Yancey
HEY GUYSI wrote the original post here, and I am assuming are test results are negative as I did't hear back from the Dr. office. Her test was done last week on Wednesday afternoon. I am feeling very guilty for having such mixed emotions. YAHOO - she doesn't have CF, but BOOHOO we still have no answers to her one full year of chronic diarrhea, abdominal bloating ect.... After every test imaginable including for celiac, lactose and endoscopy now sweat chloride, we have no answers. Thanks everyone for your advice and support. I really appreciate it.
I am shocked that the doctor's office has not returned your call about your daughter's sweat test. It is very insensitive and unprofessional of them. I would advise you not to just assume that the test is negative since you didn't hear back from them. Find out for sure what the score was. I have learned from working with doctors, etc. the past few years that mistakes are made and medical professionals are not perfect. We, as parents, have to be proactive and sometimes put your foot down and demand answers. (I.E.- go to the doctor's office and wait for someone to speak to you about the results if they won't return your call). I hope you find some answers soon. My heart goes out to you.Sharon, mom to Sophia, almost three, and Jack, 8 months both with cf
You don't need to have ever noticed CF in your family before until now for a number of reasons. Two people with CF defective genes have not had children. These could ppl could have had children and not one with CF. Or the fact that some ppl in your family do have a very mild case of Cystic Fibrosis. And of course we are now finding out that it does not actually take two genes to cause CF. It is believed that a rare fluk can occur and one parent with a defective gene and a parent with no defective gene can have a child with CF. A sweat test is a good idea.....but to be even more sure you can get a genetic test for common gene types like Delta F508.Jake
AbsintheSorrow
New member
Yeah don't assume that because they haven't called that it's negative. And I have a sister who doesn't even carry the gene.... and a large extended family. Almost all of my cousins are older, and I'm the first case of CF in our family.
I would like to hear where you heard it doesn't take 2 genes to have CF??There are cases that people appear to have only one CF mutation, but still exhibit high sweat chlorides. These cases are believed to be "unknown" mutations not yet discovered. On the most common test they only test for a few hundred mutations. There is new test that test for 800+ mutations , but there are still a few out there undiscovered.I have done extensive reading on this because my son shows only as a carrier, but he definately has CF. (Chloride sweat test @ 96)