My head is spinning with more questions than I can sort out. My 13 year old daughter had a clinic visit with the pulmonologist on Tuesday. She was diagnosed with cf a little over a year ago with sweat tests of 87 and 89. The cf clinic took her in and treated her for several months while waiting for the genetic tests to come back. When the tests came back they showed only one mutation, not two, and yes it was the Ambry full panel test. The Dr. said that she probably has a mutation that has not been identified yet and labeled her cf, end of story, wrong. At this last visit she had lost weight and everything they have tried does not change her symptoms, bulky, smelly stool, no weigth gain, sinus trouble, but suprisingly good lung function. Now the Dr. says he does not think she has cf and wants to send her back to the endocronologist who follows her for growth hormone and to the pediatric GI who found the evelvated sweat test. The Dr. said that she could have a-typical cf, but he feels there is some other problem causing the malabsorption and is really not sure what is wrong. So for a little over a year now we have told everyone that she has cf and now we are not so sure. I'm frustrated and angry and just want some answers. Sorry for running on, just had to get it out.
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A typical cf???
- Thread starter Samsmom
- Start date
My head is spinning with more questions than I can sort out. My 13 year old daughter had a clinic visit with the pulmonologist on Tuesday. She was diagnosed with cf a little over a year ago with sweat tests of 87 and 89. The cf clinic took her in and treated her for several months while waiting for the genetic tests to come back. When the tests came back they showed only one mutation, not two, and yes it was the Ambry full panel test. The Dr. said that she probably has a mutation that has not been identified yet and labeled her cf, end of story, wrong. At this last visit she had lost weight and everything they have tried does not change her symptoms, bulky, smelly stool, no weigth gain, sinus trouble, but suprisingly good lung function. Now the Dr. says he does not think she has cf and wants to send her back to the endocronologist who follows her for growth hormone and to the pediatric GI who found the evelvated sweat test. The Dr. said that she could have a-typical cf, but he feels there is some other problem causing the malabsorption and is really not sure what is wrong. So for a little over a year now we have told everyone that she has cf and now we are not so sure. I'm frustrated and angry and just want some answers. Sorry for running on, just had to get it out.
My head is spinning with more questions than I can sort out. My 13 year old daughter had a clinic visit with the pulmonologist on Tuesday. She was diagnosed with cf a little over a year ago with sweat tests of 87 and 89. The cf clinic took her in and treated her for several months while waiting for the genetic tests to come back. When the tests came back they showed only one mutation, not two, and yes it was the Ambry full panel test. The Dr. said that she probably has a mutation that has not been identified yet and labeled her cf, end of story, wrong. At this last visit she had lost weight and everything they have tried does not change her symptoms, bulky, smelly stool, no weigth gain, sinus trouble, but suprisingly good lung function. Now the Dr. says he does not think she has cf and wants to send her back to the endocronologist who follows her for growth hormone and to the pediatric GI who found the evelvated sweat test. The Dr. said that she could have a-typical cf, but he feels there is some other problem causing the malabsorption and is really not sure what is wrong. So for a little over a year now we have told everyone that she has cf and now we are not so sure. I'm frustrated and angry and just want some answers. Sorry for running on, just had to get it out.
CFHockeyMom
New member
Are you going to an accredited CF center? Is that where she had her sweat test done?
CFHockeyMom
New member
Are you going to an accredited CF center? Is that where she had her sweat test done?
CFHockeyMom
New member
Are you going to an accredited CF center? Is that where she had her sweat test done?
hi jean, my name is kate. i just wanted to give you some information- i have majorly the same symptoms as your daughter, i was diagnosed with CF at 3. i am now 21. i didnt start getting symptomatic in the lungs until i turned about fifteen-sixteen. so other than the things you mentioned, you wouldnt have known i had CF. I dont want to discourage you but i just wanted you to know that its not unheard of for children to not have severe problems with the lungs, and have other major problems, like intestines, sinuses etc, and still have CF. it sounds like if your daughter does have it, shes one of the lucky ones who isnt declining in lung function just yet, so take care of her very well and make sure she knows that its important to keep her lungs that healthy. i wish people kept on my case when i was that young! good luck!
Kate
Kate
hi jean, my name is kate. i just wanted to give you some information- i have majorly the same symptoms as your daughter, i was diagnosed with CF at 3. i am now 21. i didnt start getting symptomatic in the lungs until i turned about fifteen-sixteen. so other than the things you mentioned, you wouldnt have known i had CF. I dont want to discourage you but i just wanted you to know that its not unheard of for children to not have severe problems with the lungs, and have other major problems, like intestines, sinuses etc, and still have CF. it sounds like if your daughter does have it, shes one of the lucky ones who isnt declining in lung function just yet, so take care of her very well and make sure she knows that its important to keep her lungs that healthy. i wish people kept on my case when i was that young! good luck!
Kate
Kate
hi jean, my name is kate. i just wanted to give you some information- i have majorly the same symptoms as your daughter, i was diagnosed with CF at 3. i am now 21. i didnt start getting symptomatic in the lungs until i turned about fifteen-sixteen. so other than the things you mentioned, you wouldnt have known i had CF. I dont want to discourage you but i just wanted you to know that its not unheard of for children to not have severe problems with the lungs, and have other major problems, like intestines, sinuses etc, and still have CF. it sounds like if your daughter does have it, shes one of the lucky ones who isnt declining in lung function just yet, so take care of her very well and make sure she knows that its important to keep her lungs that healthy. i wish people kept on my case when i was that young! good luck!
Kate
Kate
Emily65Roses
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>CFHockeyMom</b></i>
Are you going to an accredited CF center? Is that where she had her sweat test done?</end quote></div>
I second this question.
Are you going to an accredited CF center? Is that where she had her sweat test done?</end quote></div>
I second this question.
Emily65Roses
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>CFHockeyMom</b></i>
Are you going to an accredited CF center? Is that where she had her sweat test done?</end quote></div>
I second this question.
Are you going to an accredited CF center? Is that where she had her sweat test done?</end quote></div>
I second this question.
Emily65Roses
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>CFHockeyMom</b></i>
Are you going to an accredited CF center? Is that where she had her sweat test done?</end quote></div>
I second this question.
Are you going to an accredited CF center? Is that where she had her sweat test done?</end quote></div>
I second this question.
Yes, it is an accredited cf center and that is where the sweat test was done. The genetic test was the Ambry full panel, but only showed one mutation. I was convinced she had cf until this last appt. when the cf Dr. said he wasn't so sure. He didn't rule it out, just wants to look at other possible causes of the malabsorption since the enzymes did not help. Maybe it is possible that she does have cf, but another condition as well that is preventing her from absorbing nutrition. Don't know????? She is my mystery child. Time to hire a detective.
Yes, it is an accredited cf center and that is where the sweat test was done. The genetic test was the Ambry full panel, but only showed one mutation. I was convinced she had cf until this last appt. when the cf Dr. said he wasn't so sure. He didn't rule it out, just wants to look at other possible causes of the malabsorption since the enzymes did not help. Maybe it is possible that she does have cf, but another condition as well that is preventing her from absorbing nutrition. Don't know????? She is my mystery child. Time to hire a detective.
Yes, it is an accredited cf center and that is where the sweat test was done. The genetic test was the Ambry full panel, but only showed one mutation. I was convinced she had cf until this last appt. when the cf Dr. said he wasn't so sure. He didn't rule it out, just wants to look at other possible causes of the malabsorption since the enzymes did not help. Maybe it is possible that she does have cf, but another condition as well that is preventing her from absorbing nutrition. Don't know????? She is my mystery child. Time to hire a detective.
CFHockeyMom
New member
How frustrating!
I assume they've tried all the usual digestive tricks; changing enzymes, fecal analysis, zantac?
I assume they've tried all the usual digestive tricks; changing enzymes, fecal analysis, zantac?
CFHockeyMom
New member
How frustrating!
I assume they've tried all the usual digestive tricks; changing enzymes, fecal analysis, zantac?
I assume they've tried all the usual digestive tricks; changing enzymes, fecal analysis, zantac?
CFHockeyMom
New member
How frustrating!
I assume they've tried all the usual digestive tricks; changing enzymes, fecal analysis, zantac?
I assume they've tried all the usual digestive tricks; changing enzymes, fecal analysis, zantac?
I am so sorry that you are facing so much uncertaintity. I can't say if you daughter has CF or not but i can say that i am glad to hear you doc is investigating other possibilities in case something else is going on. I think it is probably wise to try to figure out if something else is the cause of your daughter's weight issues. Also since your doctor is not ruling out CF at this point (or even atypical CF) i think you can feel confident that your doctor will make sure your daughter gets the treatment she needs.
Best of luck! let us know how it is going.
Best of luck! let us know how it is going.
I am so sorry that you are facing so much uncertaintity. I can't say if you daughter has CF or not but i can say that i am glad to hear you doc is investigating other possibilities in case something else is going on. I think it is probably wise to try to figure out if something else is the cause of your daughter's weight issues. Also since your doctor is not ruling out CF at this point (or even atypical CF) i think you can feel confident that your doctor will make sure your daughter gets the treatment she needs.
Best of luck! let us know how it is going.
Best of luck! let us know how it is going.