My 13 year old has some obvioius pancreatic insuffiency and is tiny for her age, clear chest x-ray, good PFT, but two tests of boderline sweat choloride levels. All doctors at CF Clinic on vacation. Having a hard time interpreting results. SHe has lost weight over the past year. Any suggestions on what we should be thinking or doing at this point? We are terrified and any advise you might have would be helpful. Thank so much
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Diagnosis at 13 - two borderline positive sweat tests
- Thread starter janbro
- Start date
My 13 year old has some obvioius pancreatic insuffiency and is tiny for her age, clear chest x-ray, good PFT, but two tests of boderline sweat choloride levels. All doctors at CF Clinic on vacation. Having a hard time interpreting results. SHe has lost weight over the past year. Any suggestions on what we should be thinking or doing at this point? We are terrified and any advise you might have would be helpful. Thank so much
My 13 year old has some obvioius pancreatic insuffiency and is tiny for her age, clear chest x-ray, good PFT, but two tests of boderline sweat choloride levels. All doctors at CF Clinic on vacation. Having a hard time interpreting results. SHe has lost weight over the past year. Any suggestions on what we should be thinking or doing at this point? We are terrified and any advise you might have would be helpful. Thank so much
M
Mommafirst
Guest
Hi and welcome.
I know how hard the diagnosis process is and Cf can really be confusing. You've come to a great place to find answers while you wait fo rthe docs to return.
A borderline result means its neither clearly positive, nor clearly negative. My daughter had 2 borderline sweats, but later genetic testing revealed she does have CF. You will probably go the genetic testing route at this point so you can determine if your daughter has CF and if not, why her sweat tests are elevated. There are other things that can cause elevated sweat chlorides, but having pancreatic sufficiency with elevate sweat test probably makes the doctors quite suspicious about CF.
Good to hear that your daughter's lungs are doing well. Not all CF patients have lung issues right away, many develop them later on. From what I've seen around here, it seems like your daughter would be more likely to fit into some of the rarer CF genetic mutations...so please make sure that the doctors don't quit looking with a simple CF panel, which only looks for about 30 mutations. Ask if they will run a sequencing with deletions and duplication -- it will look at over 1500 mutations and is over 99% accurate.
Best of luck.
I know how hard the diagnosis process is and Cf can really be confusing. You've come to a great place to find answers while you wait fo rthe docs to return.
A borderline result means its neither clearly positive, nor clearly negative. My daughter had 2 borderline sweats, but later genetic testing revealed she does have CF. You will probably go the genetic testing route at this point so you can determine if your daughter has CF and if not, why her sweat tests are elevated. There are other things that can cause elevated sweat chlorides, but having pancreatic sufficiency with elevate sweat test probably makes the doctors quite suspicious about CF.
Good to hear that your daughter's lungs are doing well. Not all CF patients have lung issues right away, many develop them later on. From what I've seen around here, it seems like your daughter would be more likely to fit into some of the rarer CF genetic mutations...so please make sure that the doctors don't quit looking with a simple CF panel, which only looks for about 30 mutations. Ask if they will run a sequencing with deletions and duplication -- it will look at over 1500 mutations and is over 99% accurate.
Best of luck.
M
Mommafirst
Guest
Hi and welcome.
I know how hard the diagnosis process is and Cf can really be confusing. You've come to a great place to find answers while you wait fo rthe docs to return.
A borderline result means its neither clearly positive, nor clearly negative. My daughter had 2 borderline sweats, but later genetic testing revealed she does have CF. You will probably go the genetic testing route at this point so you can determine if your daughter has CF and if not, why her sweat tests are elevated. There are other things that can cause elevated sweat chlorides, but having pancreatic sufficiency with elevate sweat test probably makes the doctors quite suspicious about CF.
Good to hear that your daughter's lungs are doing well. Not all CF patients have lung issues right away, many develop them later on. From what I've seen around here, it seems like your daughter would be more likely to fit into some of the rarer CF genetic mutations...so please make sure that the doctors don't quit looking with a simple CF panel, which only looks for about 30 mutations. Ask if they will run a sequencing with deletions and duplication -- it will look at over 1500 mutations and is over 99% accurate.
Best of luck.
I know how hard the diagnosis process is and Cf can really be confusing. You've come to a great place to find answers while you wait fo rthe docs to return.
A borderline result means its neither clearly positive, nor clearly negative. My daughter had 2 borderline sweats, but later genetic testing revealed she does have CF. You will probably go the genetic testing route at this point so you can determine if your daughter has CF and if not, why her sweat tests are elevated. There are other things that can cause elevated sweat chlorides, but having pancreatic sufficiency with elevate sweat test probably makes the doctors quite suspicious about CF.
Good to hear that your daughter's lungs are doing well. Not all CF patients have lung issues right away, many develop them later on. From what I've seen around here, it seems like your daughter would be more likely to fit into some of the rarer CF genetic mutations...so please make sure that the doctors don't quit looking with a simple CF panel, which only looks for about 30 mutations. Ask if they will run a sequencing with deletions and duplication -- it will look at over 1500 mutations and is over 99% accurate.
Best of luck.
M
Mommafirst
Guest
Hi and welcome.
<br />
<br />I know how hard the diagnosis process is and Cf can really be confusing. You've come to a great place to find answers while you wait fo rthe docs to return.
<br />
<br />A borderline result means its neither clearly positive, nor clearly negative. My daughter had 2 borderline sweats, but later genetic testing revealed she does have CF. You will probably go the genetic testing route at this point so you can determine if your daughter has CF and if not, why her sweat tests are elevated. There are other things that can cause elevated sweat chlorides, but having pancreatic sufficiency with elevate sweat test probably makes the doctors quite suspicious about CF.
<br />
<br />Good to hear that your daughter's lungs are doing well. Not all CF patients have lung issues right away, many develop them later on. From what I've seen around here, it seems like your daughter would be more likely to fit into some of the rarer CF genetic mutations...so please make sure that the doctors don't quit looking with a simple CF panel, which only looks for about 30 mutations. Ask if they will run a sequencing with deletions and duplication -- it will look at over 1500 mutations and is over 99% accurate.
<br />
<br />Best of luck.
<br />
<br />I know how hard the diagnosis process is and Cf can really be confusing. You've come to a great place to find answers while you wait fo rthe docs to return.
<br />
<br />A borderline result means its neither clearly positive, nor clearly negative. My daughter had 2 borderline sweats, but later genetic testing revealed she does have CF. You will probably go the genetic testing route at this point so you can determine if your daughter has CF and if not, why her sweat tests are elevated. There are other things that can cause elevated sweat chlorides, but having pancreatic sufficiency with elevate sweat test probably makes the doctors quite suspicious about CF.
<br />
<br />Good to hear that your daughter's lungs are doing well. Not all CF patients have lung issues right away, many develop them later on. From what I've seen around here, it seems like your daughter would be more likely to fit into some of the rarer CF genetic mutations...so please make sure that the doctors don't quit looking with a simple CF panel, which only looks for about 30 mutations. Ask if they will run a sequencing with deletions and duplication -- it will look at over 1500 mutations and is over 99% accurate.
<br />
<br />Best of luck.
I agree with Heather - pancreatic insufficiency and borderline sweat test means genetic testing is indicated. I guess you are already working with a CF clinic and they ordered the sweat tests? If so, hopefully they won't hesitate to order the full genetic testing.
Diagnosis can be hard sometimes because CF can present differently in people. Finding a doctor that will work to get answers is key. Like others here, we had to fight to get our pediatrician to take our daughter's problems seriously. Thankfully, we were finally referred to a fabulous CF doc when she was 3 and got a diagnosis.
I understand that you are terrified but if your daughter does have CF, I promise you that getting the right treatment for her will make all the difference. Our daughter does not have much lung involvement right now but we are proactive to hopefully keep it that way. She takes digestive enzymes and other oral meds to address her pancreas/liver/gall bladder issues. The horrible stomach pain, lethargy, constant sadness and clinging to mommy - those are all things of the past. She is back on track with growth and she is an energetic and happy child.
I hope you get answers soon and please keep us posted. Best wishes.
Diagnosis can be hard sometimes because CF can present differently in people. Finding a doctor that will work to get answers is key. Like others here, we had to fight to get our pediatrician to take our daughter's problems seriously. Thankfully, we were finally referred to a fabulous CF doc when she was 3 and got a diagnosis.
I understand that you are terrified but if your daughter does have CF, I promise you that getting the right treatment for her will make all the difference. Our daughter does not have much lung involvement right now but we are proactive to hopefully keep it that way. She takes digestive enzymes and other oral meds to address her pancreas/liver/gall bladder issues. The horrible stomach pain, lethargy, constant sadness and clinging to mommy - those are all things of the past. She is back on track with growth and she is an energetic and happy child.
I hope you get answers soon and please keep us posted. Best wishes.
I agree with Heather - pancreatic insufficiency and borderline sweat test means genetic testing is indicated. I guess you are already working with a CF clinic and they ordered the sweat tests? If so, hopefully they won't hesitate to order the full genetic testing.
Diagnosis can be hard sometimes because CF can present differently in people. Finding a doctor that will work to get answers is key. Like others here, we had to fight to get our pediatrician to take our daughter's problems seriously. Thankfully, we were finally referred to a fabulous CF doc when she was 3 and got a diagnosis.
I understand that you are terrified but if your daughter does have CF, I promise you that getting the right treatment for her will make all the difference. Our daughter does not have much lung involvement right now but we are proactive to hopefully keep it that way. She takes digestive enzymes and other oral meds to address her pancreas/liver/gall bladder issues. The horrible stomach pain, lethargy, constant sadness and clinging to mommy - those are all things of the past. She is back on track with growth and she is an energetic and happy child.
I hope you get answers soon and please keep us posted. Best wishes.
Diagnosis can be hard sometimes because CF can present differently in people. Finding a doctor that will work to get answers is key. Like others here, we had to fight to get our pediatrician to take our daughter's problems seriously. Thankfully, we were finally referred to a fabulous CF doc when she was 3 and got a diagnosis.
I understand that you are terrified but if your daughter does have CF, I promise you that getting the right treatment for her will make all the difference. Our daughter does not have much lung involvement right now but we are proactive to hopefully keep it that way. She takes digestive enzymes and other oral meds to address her pancreas/liver/gall bladder issues. The horrible stomach pain, lethargy, constant sadness and clinging to mommy - those are all things of the past. She is back on track with growth and she is an energetic and happy child.
I hope you get answers soon and please keep us posted. Best wishes.
I agree with Heather - pancreatic insufficiency and borderline sweat test means genetic testing is indicated. I guess you are already working with a CF clinic and they ordered the sweat tests? If so, hopefully they won't hesitate to order the full genetic testing.
<br />
<br />Diagnosis can be hard sometimes because CF can present differently in people. Finding a doctor that will work to get answers is key. Like others here, we had to fight to get our pediatrician to take our daughter's problems seriously. Thankfully, we were finally referred to a fabulous CF doc when she was 3 and got a diagnosis.
<br />
<br />I understand that you are terrified but if your daughter does have CF, I promise you that getting the right treatment for her will make all the difference. Our daughter does not have much lung involvement right now but we are proactive to hopefully keep it that way. She takes digestive enzymes and other oral meds to address her pancreas/liver/gall bladder issues. The horrible stomach pain, lethargy, constant sadness and clinging to mommy - those are all things of the past. She is back on track with growth and she is an energetic and happy child.
<br />
<br />I hope you get answers soon and please keep us posted. Best wishes.
<br />
<br />Diagnosis can be hard sometimes because CF can present differently in people. Finding a doctor that will work to get answers is key. Like others here, we had to fight to get our pediatrician to take our daughter's problems seriously. Thankfully, we were finally referred to a fabulous CF doc when she was 3 and got a diagnosis.
<br />
<br />I understand that you are terrified but if your daughter does have CF, I promise you that getting the right treatment for her will make all the difference. Our daughter does not have much lung involvement right now but we are proactive to hopefully keep it that way. She takes digestive enzymes and other oral meds to address her pancreas/liver/gall bladder issues. The horrible stomach pain, lethargy, constant sadness and clinging to mommy - those are all things of the past. She is back on track with growth and she is an energetic and happy child.
<br />
<br />I hope you get answers soon and please keep us posted. Best wishes.