2 children possible cf

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nessap11

New member
I apologize in advance because I know this is going to be long, but I feel the more info I give, the more people may be able to help.
I'll start with my son, he is almost 3 and was born 7 wks premature with 2 holes in his heart, we are waiting for follow up echo results now. From birth until 18 months he had chronic projectile vomiting and chronic foul smelling diarrhea until 4 months ago, which they said was due to a milk allergy and GERD, but testing showed no allergies at all to anything and meds did nothing to help. He has ichthyosis(dry skin condition) and was hospitalized at 3 months for a skin infection, while there they discovered he had a swollen kidney, after lots of tests they couldn't figure out why, and by age 2 swelling disappeared. He has suffered from chronic sinus, eye, ear and throat infections, he had tubes put in and adenoids taken out and surgery to unclog tear ducts where they discovered he is missing one and may need reconstructive surgery for it. He has been on inhalers since 6 months old because he gets chest infections and pnuemonia 4 or more times a year with fevers as high as 107. He has had a chronic cough since Dec, with 2 infections since then. Was tested for IGA deficiency which levels did come back low, but ped said it was normal for his age. His sweat test results have been 59, 70, 76 & 80.
Now my daughter, she is 7 has been on inhalers since she was 2 for asthma, gets chest infections or pnuemonia 2x a year or more with fevers as high as 106.5. She suffered from strep throat and tonsillitis all the time until age 5 when they took her tonsils and adenoids out because she missed almost 3 months her first year of school due to illnesses. She is more contipated than anything which I believe isn't normal for cf kids, a reason dr doesn't believe it is cf. Her sweat test results were 44, 48 & 70.
There tests were done at an accredited center, and we have no known family history. Their dr doesn't seem to think that it is cf because they have never been hospitalized for any chest problems and they both seem to be gaining weight fine but are smaller than most children their age, however they usually eat more in a day than I do.
Now with all that being said, my childern do not have the same father, therefore do not share the same genes, so dr thinks that if they both do have cf, it would be very uncommon. Any thoughts would be greatly appreciated, and sorry again for the length.
 
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nessap11

New member
I apologize in advance because I know this is going to be long, but I feel the more info I give, the more people may be able to help.
I'll start with my son, he is almost 3 and was born 7 wks premature with 2 holes in his heart, we are waiting for follow up echo results now. From birth until 18 months he had chronic projectile vomiting and chronic foul smelling diarrhea until 4 months ago, which they said was due to a milk allergy and GERD, but testing showed no allergies at all to anything and meds did nothing to help. He has ichthyosis(dry skin condition) and was hospitalized at 3 months for a skin infection, while there they discovered he had a swollen kidney, after lots of tests they couldn't figure out why, and by age 2 swelling disappeared. He has suffered from chronic sinus, eye, ear and throat infections, he had tubes put in and adenoids taken out and surgery to unclog tear ducts where they discovered he is missing one and may need reconstructive surgery for it. He has been on inhalers since 6 months old because he gets chest infections and pnuemonia 4 or more times a year with fevers as high as 107. He has had a chronic cough since Dec, with 2 infections since then. Was tested for IGA deficiency which levels did come back low, but ped said it was normal for his age. His sweat test results have been 59, 70, 76 & 80.
Now my daughter, she is 7 has been on inhalers since she was 2 for asthma, gets chest infections or pnuemonia 2x a year or more with fevers as high as 106.5. She suffered from strep throat and tonsillitis all the time until age 5 when they took her tonsils and adenoids out because she missed almost 3 months her first year of school due to illnesses. She is more contipated than anything which I believe isn't normal for cf kids, a reason dr doesn't believe it is cf. Her sweat test results were 44, 48 & 70.
There tests were done at an accredited center, and we have no known family history. Their dr doesn't seem to think that it is cf because they have never been hospitalized for any chest problems and they both seem to be gaining weight fine but are smaller than most children their age, however they usually eat more in a day than I do.
Now with all that being said, my childern do not have the same father, therefore do not share the same genes, so dr thinks that if they both do have cf, it would be very uncommon. Any thoughts would be greatly appreciated, and sorry again for the length.
 
J

JustDucky

New member
With sweat tests ranging from intermediate to positive in both kids, I would absolutely push for the full genetic sequencing (which tests for all known mutations). Also, kids don't have to be failure to thrive in order to have CF. In a small percentage of CF'ers, their pancreas is functioning meaning that they are able to secrete the necessary enzymes to digest their food.
Even if they do not have the same father, it would be worth it to check for CF because of the symptoms alone, the intermediate sweat results makes me want to say to push even harder for more conclusive testing. Make sure they are seen at a CF accredited center, if they don't agree to further testing, move on until you are satisfied. If it does turn out that they have CF, then they will get much needed appropriate CF treatment (nebs, vesting etc).

I will be thinking of you, the uncertainty is difficult enough, waiting is even worse.
Jenn 40 wCF
 
J

JustDucky

New member
With sweat tests ranging from intermediate to positive in both kids, I would absolutely push for the full genetic sequencing (which tests for all known mutations). Also, kids don't have to be failure to thrive in order to have CF. In a small percentage of CF'ers, their pancreas is functioning meaning that they are able to secrete the necessary enzymes to digest their food.
Even if they do not have the same father, it would be worth it to check for CF because of the symptoms alone, the intermediate sweat results makes me want to say to push even harder for more conclusive testing. Make sure they are seen at a CF accredited center, if they don't agree to further testing, move on until you are satisfied. If it does turn out that they have CF, then they will get much needed appropriate CF treatment (nebs, vesting etc).

I will be thinking of you, the uncertainty is difficult enough, waiting is even worse.
Jenn 40 wCF
 
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nessap11

New member
We are in the process right now of filling out the paperwork for the genetic testing for both children, myself and their fathers. The dr wants all of us done just to be better prepared for diagnosis. The dr they are seeing right now is their asthma specialist but she also runs the cf clinic in the city that I live in. Their sweat tests were done at an accredited cf center, its the only one in the province where we live.
 
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nessap11

New member
We are in the process right now of filling out the paperwork for the genetic testing for both children, myself and their fathers. The dr wants all of us done just to be better prepared for diagnosis. The dr they are seeing right now is their asthma specialist but she also runs the cf clinic in the city that I live in. Their sweat tests were done at an accredited cf center, its the only one in the province where we live.
 
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Mistyjo

New member
My daughters main symptoms are chronic constipation and ftt. She had borderline sweats. She had to have bowel resection last June. She is now on enzymes and they have made a huge difference! Her sister is now getting tested because of same symptoms.
 
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Mistyjo

New member
My daughters main symptoms are chronic constipation and ftt. She had borderline sweats. She had to have bowel resection last June. She is now on enzymes and they have made a huge difference! Her sister is now getting tested because of same symptoms.
 
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Mommafirst

Guest
Well with those sweat tests, any doctor that is telling you it isn't CF is clearly NOT a specialist in CF. My daughter is 6 and is pancreatic sufficient. She does have awful severe constipation, but none of the typical CF stools.

I have a friend who has two kids with different dads adn they both have CF. Her son's doctor was also very insistant that it couldn't be, but genetic tests proved otherwise. Just because the odds are low, doesn't mean a thing when it actually pans out.

I hope you get answers. And I hope you won't accept "it can't be CF" unless they can find some other reason for such elevated sweat tests adn all those other symptoms. Unfortunately, I have a feeling genetics will confirm CF. Sorry I can't be more positive, but I hope that with a diagnosis, your kids will be able to be much healthier.
 
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Mommafirst

Guest
Well with those sweat tests, any doctor that is telling you it isn't CF is clearly NOT a specialist in CF. My daughter is 6 and is pancreatic sufficient. She does have awful severe constipation, but none of the typical CF stools.

I have a friend who has two kids with different dads adn they both have CF. Her son's doctor was also very insistant that it couldn't be, but genetic tests proved otherwise. Just because the odds are low, doesn't mean a thing when it actually pans out.

I hope you get answers. And I hope you won't accept "it can't be CF" unless they can find some other reason for such elevated sweat tests adn all those other symptoms. Unfortunately, I have a feeling genetics will confirm CF. Sorry I can't be more positive, but I hope that with a diagnosis, your kids will be able to be much healthier.
 
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edan

Guest
I agree with Heather. I am so sorry you are dealing with this, but it really sounds like CF to me and that you need a new doctor.

My daughter is 5 with CF and has never had pneumonia or bronchitis. Her sweat test was a 58, just slightly below 60 (which I thought was considered "definintely CF"). She has a handful of times been constipated. She does not need enzymes and is fully pancreatic sufficient. 10-15 percent of all CF patients are pancreatic sufficient and thus do not have a problem gaining weight and have normal or nearly normal poos. No asthma. She does have some minor sinus complications and takes a little longer than most to get over a cold, but antibiotics can usually be avoided because she has access to all of the CF meds and vest. These, along with soccer, riding bikes and running, keep her healthy-ish. Her mutations are in the top 32 mutation panel for screening so not too uncommon.

I really hope your kids get the diagnosis they need, whatever that may be, so they can get appropriate treatment. Please keep us posted.

Edan.
 
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edan

Guest
I agree with Heather. I am so sorry you are dealing with this, but it really sounds like CF to me and that you need a new doctor.

My daughter is 5 with CF and has never had pneumonia or bronchitis. Her sweat test was a 58, just slightly below 60 (which I thought was considered "definintely CF"). She has a handful of times been constipated. She does not need enzymes and is fully pancreatic sufficient. 10-15 percent of all CF patients are pancreatic sufficient and thus do not have a problem gaining weight and have normal or nearly normal poos. No asthma. She does have some minor sinus complications and takes a little longer than most to get over a cold, but antibiotics can usually be avoided because she has access to all of the CF meds and vest. These, along with soccer, riding bikes and running, keep her healthy-ish. Her mutations are in the top 32 mutation panel for screening so not too uncommon.

I really hope your kids get the diagnosis they need, whatever that may be, so they can get appropriate treatment. Please keep us posted.

Edan.
 
R

Ratatosk

Administrator
Staff member
DS was tested when he was a few weeks old after he was born with a bowel obstruction. Absolutely no family history and both sides have geneological records that go back centuries -- no history of respiratory infections, no children dying early due to illness. DS had a normal 32 for his sweat test; however genetic testing did show CF. He mostly has digestive issues -- if he forgets to take his enzymes the stools are usually very loose, orangish sometimes and there's a greasy ring around the toilet bowel water level. He's only had bronchitis once. Has some sinus issues.

Friend of mines daughter has the same mutation and wasn't diagnosed until she was 18 months. Horrible constipation instead of loose stools and she had several bouts of bronchiolitos (sp). IMO, push for testing. Something is wrong with your children and you want answers. Remember you're paying for those appointments where they're telling you not to worry -- you're the "customer". Also, if they refuse to do any testing, tell them that you'd like it in writing and placed in their medical files that parent requested testing and they refused because....
 
R

Ratatosk

Administrator
Staff member
DS was tested when he was a few weeks old after he was born with a bowel obstruction. Absolutely no family history and both sides have geneological records that go back centuries -- no history of respiratory infections, no children dying early due to illness. DS had a normal 32 for his sweat test; however genetic testing did show CF. He mostly has digestive issues -- if he forgets to take his enzymes the stools are usually very loose, orangish sometimes and there's a greasy ring around the toilet bowel water level. He's only had bronchitis once. Has some sinus issues.

Friend of mines daughter has the same mutation and wasn't diagnosed until she was 18 months. Horrible constipation instead of loose stools and she had several bouts of bronchiolitos (sp). IMO, push for testing. Something is wrong with your children and you want answers. Remember you're paying for those appointments where they're telling you not to worry -- you're the "customer". Also, if they refuse to do any testing, tell them that you'd like it in writing and placed in their medical files that parent requested testing and they refused because....
 
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nessap11

New member
Thanks everyone for your replies, but I feel I need to clarify a few things. Their dr has never said for certain that it isn't cf but that she is unsure because most of the patients she has have all had very high tests results (100 or higher). Up until 5 weeks ago I had never even heard of a sweat test or cf except once on tv. She was the one who had suggested that my son be tested and was surprised when his first came back pos and then decided that more tests were needed and that my daughter be tested as well. When hers also came back borderline and pos she didn't feel it was necessary for her to have as many sweat tests done as her brother and is instead going ahead with genetic testing on all of us. She is also having their stools tested and getting throat swabs done, none of which was at my insistence, due to the fact that I knew nothing about the disease until she suggested the first test. Everything done thus far has been because of her. She is also consulting with another specialist in another city to get his thoughts on the situation. She hasn't refused any test but is insisting that we have them all done to either confirm or rule out cf so that we can search for other causes. I also live in Canada so our testing is free, thank God and I feel that if it wasn't for her my children may have never been tested until, God forbid, it was too late seeing as how none of the other drs that they see have ever even hinted at the possibility of cf and between the 2 of them they see 11 drs. I will definitely keep everyone informed however she said that it would be about a month before we get genetics back and we haven't even had the blood work done yet.
 
N

nessap11

New member
Thanks everyone for your replies, but I feel I need to clarify a few things. Their dr has never said for certain that it isn't cf but that she is unsure because most of the patients she has have all had very high tests results (100 or higher). Up until 5 weeks ago I had never even heard of a sweat test or cf except once on tv. She was the one who had suggested that my son be tested and was surprised when his first came back pos and then decided that more tests were needed and that my daughter be tested as well. When hers also came back borderline and pos she didn't feel it was necessary for her to have as many sweat tests done as her brother and is instead going ahead with genetic testing on all of us. She is also having their stools tested and getting throat swabs done, none of which was at my insistence, due to the fact that I knew nothing about the disease until she suggested the first test. Everything done thus far has been because of her. She is also consulting with another specialist in another city to get his thoughts on the situation. She hasn't refused any test but is insisting that we have them all done to either confirm or rule out cf so that we can search for other causes. I also live in Canada so our testing is free, thank God and I feel that if it wasn't for her my children may have never been tested until, God forbid, it was too late seeing as how none of the other drs that they see have ever even hinted at the possibility of cf and between the 2 of them they see 11 drs. I will definitely keep everyone informed however she said that it would be about a month before we get genetics back and we haven't even had the blood work done yet.
 
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