If the sweat test came back fairly quickly then it was not the expanded Ambry test that tests for all currently known mutations. The Ambry test takes 4-6 weeks to come back.Is your daughter being tested by an CF Clinic or just through a Pulmo, Ped or GI doc? The reason I ask is that CF is amazingly complicated and the typical doctor that does not specialize in CF would not be the person to diagnosis CF unless it was a textbook case (diagnosed shortly after birth). If you are not currently going to a CF Clinic I would get there ASAP so they can evauluate the test results.
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I'm so confused!
- Thread starter Kkids
- Start date
If the sweat test came back fairly quickly then it was not the expanded Ambry test that tests for all currently known mutations. The Ambry test takes 4-6 weeks to come back.Is your daughter being tested by an CF Clinic or just through a Pulmo, Ped or GI doc? The reason I ask is that CF is amazingly complicated and the typical doctor that does not specialize in CF would not be the person to diagnosis CF unless it was a textbook case (diagnosed shortly after birth). If you are not currently going to a CF Clinic I would get there ASAP so they can evauluate the test results.
If the sweat test came back fairly quickly then it was not the expanded Ambry test that tests for all currently known mutations. The Ambry test takes 4-6 weeks to come back.Is your daughter being tested by an CF Clinic or just through a Pulmo, Ped or GI doc? The reason I ask is that CF is amazingly complicated and the typical doctor that does not specialize in CF would not be the person to diagnosis CF unless it was a textbook case (diagnosed shortly after birth). If you are not currently going to a CF Clinic I would get there ASAP so they can evauluate the test results.
If the sweat test came back fairly quickly then it was not the expanded Ambry test that tests for all currently known mutations. The Ambry test takes 4-6 weeks to come back.Is your daughter being tested by an CF Clinic or just through a Pulmo, Ped or GI doc? The reason I ask is that CF is amazingly complicated and the typical doctor that does not specialize in CF would not be the person to diagnosis CF unless it was a textbook case (diagnosed shortly after birth). If you are not currently going to a CF Clinic I would get there ASAP so they can evauluate the test results.
If the sweat test came back fairly quickly then it was not the expanded Ambry test that tests for all currently known mutations. The Ambry test takes 4-6 weeks to come back.<p>Is your daughter being tested by an CF Clinic or just through a Pulmo, Ped or GI doc? The reason I ask is that CF is amazingly complicated and the typical doctor that does not specialize in CF would not be the person to diagnosis CF unless it was a textbook case (diagnosed shortly after birth). If you are not currently going to a CF Clinic I would get there ASAP so they can evauluate the test results.
The genetic testing did take about five or six weeks...
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
The genetic testing did take about five or six weeks...
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
The genetic testing did take about five or six weeks...
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
The genetic testing did take about five or six weeks...
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
The genetic testing did take about five or six weeks...
<br />
<br />Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
<br />
<br />I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
<br />
<br />Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
<br />
<br />Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
<br />
<br />We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
<br />
<br />Right now, K is being seen by an gastroenterologist, but his specialty doesn't include CF. He said yesterday that he almost never orders genetic testing because that is usually done through pulmonary since they are the ones that typically see CF patients first. We're seeing specialists at Children's Hospital, but haven't seen anyone specific to their CF Center.
<br />
<br />I think every step of the way, the doctors are assuming that the tests are going to be negative. The borderline sweat test results are explained by saying she could have "malnutrition" since she can't seem to absorb food. The lung x-ray could be asthma (although the doctor never said what she thought it was.) There was no real explanation for the genetic test results other than we may want to look into that more when she's older and thinking of having a family.
<br />
<br />Does even the expanded test find every mutation or is it possible that K still has some mutation that hasn't been discovered? I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
<br />
<br />Right now my biggest concern is that all the inhalers we've tried have made her totally hyper and angry and emotional and I don't want to put her through that (or our family) and since the pulmonary specialist thinks this is nothing, I haven't been using the inhaler at all. With the news of the genetic mutation, I am worried that I'm not taking the symptoms are seriously as I should.
<br />
<br />We've been looking into K's "failure to thrive" issues for almost a year and I guess that I'm just at the point where an actual diagnosis would be a relief.
My son was tested for CF due to failure to thrive also. He was never on the charts. Other doctors just assumed that it was due to his Cerebral Palsy, including his first GI.When I got frustrated that no one was addressing the failure to thrive I took him to see a GI doctor out of town. She ordered a sweat test at the very first appointment with her.As for the mutations, my son has had the full Ambry test and they found no mutations at all, yet they still diagnosed him with CF due to the sweat tests (very positive), GI issues, lung issues, etc. The theory is that he may have mutations that have not been discovered yet (they discover new ones all the time) or that whatever he has is so similar to CF that it would benefit him to be treated the same as a CFer.I would imagine they would have her on inhalers regardless of the CF diagnosis or not because of the lung x-rays, but that would be a good quetsion for the Pulmo. You don't want her on any meds just for the heck of it, but if it is CF you need to get the mucus loosened and out.
My son was tested for CF due to failure to thrive also. He was never on the charts. Other doctors just assumed that it was due to his Cerebral Palsy, including his first GI.When I got frustrated that no one was addressing the failure to thrive I took him to see a GI doctor out of town. She ordered a sweat test at the very first appointment with her.As for the mutations, my son has had the full Ambry test and they found no mutations at all, yet they still diagnosed him with CF due to the sweat tests (very positive), GI issues, lung issues, etc. The theory is that he may have mutations that have not been discovered yet (they discover new ones all the time) or that whatever he has is so similar to CF that it would benefit him to be treated the same as a CFer.I would imagine they would have her on inhalers regardless of the CF diagnosis or not because of the lung x-rays, but that would be a good quetsion for the Pulmo. You don't want her on any meds just for the heck of it, but if it is CF you need to get the mucus loosened and out.
My son was tested for CF due to failure to thrive also. He was never on the charts. Other doctors just assumed that it was due to his Cerebral Palsy, including his first GI.When I got frustrated that no one was addressing the failure to thrive I took him to see a GI doctor out of town. She ordered a sweat test at the very first appointment with her.As for the mutations, my son has had the full Ambry test and they found no mutations at all, yet they still diagnosed him with CF due to the sweat tests (very positive), GI issues, lung issues, etc. The theory is that he may have mutations that have not been discovered yet (they discover new ones all the time) or that whatever he has is so similar to CF that it would benefit him to be treated the same as a CFer.I would imagine they would have her on inhalers regardless of the CF diagnosis or not because of the lung x-rays, but that would be a good quetsion for the Pulmo. You don't want her on any meds just for the heck of it, but if it is CF you need to get the mucus loosened and out.
My son was tested for CF due to failure to thrive also. He was never on the charts. Other doctors just assumed that it was due to his Cerebral Palsy, including his first GI.When I got frustrated that no one was addressing the failure to thrive I took him to see a GI doctor out of town. She ordered a sweat test at the very first appointment with her.As for the mutations, my son has had the full Ambry test and they found no mutations at all, yet they still diagnosed him with CF due to the sweat tests (very positive), GI issues, lung issues, etc. The theory is that he may have mutations that have not been discovered yet (they discover new ones all the time) or that whatever he has is so similar to CF that it would benefit him to be treated the same as a CFer.I would imagine they would have her on inhalers regardless of the CF diagnosis or not because of the lung x-rays, but that would be a good quetsion for the Pulmo. You don't want her on any meds just for the heck of it, but if it is CF you need to get the mucus loosened and out.
My son was tested for CF due to failure to thrive also. He was never on the charts. Other doctors just assumed that it was due to his Cerebral Palsy, including his first GI.<p>When I got frustrated that no one was addressing the failure to thrive I took him to see a GI doctor out of town. She ordered a sweat test at the very first appointment with her.<p>As for the mutations, my son has had the full Ambry test and they found no mutations at all, yet they still diagnosed him with CF due to the sweat tests (very positive), GI issues, lung issues, etc. The theory is that he may have mutations that have not been discovered yet (they discover new ones all the time) or that whatever he has is so similar to CF that it would benefit him to be treated the same as a CFer.<p>I would imagine they would have her on inhalers regardless of the CF diagnosis or not because of the lung x-rays, but that would be a good quetsion for the Pulmo. You don't want her on any meds just for the heck of it, but if it is CF you need to get the mucus loosened and out.
saveferris2009
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Kkids</b></i>
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote></div>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote></div>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
saveferris2009
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Kkids</b></i>
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote></div>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote></div>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
saveferris2009
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Kkids</b></i>
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote></div>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote></div>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
saveferris2009
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Kkids</b></i>
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
</end quote>
This is a great point.
If it is CF, it's important to PREVENT symptoms and complications to prolong life.
Treating symptoms as they arise will not give the child the best possible chance at a longer life.
So getting the diagnosis through any means possible is essential.
Your child is counting on you.
saveferris2009
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Kkids</b></i>
<br />I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
<br />
<br />
<br /></end quote>
<br />
<br />This is a great point.
<br />
<br />If it is CF, it's important to PREVENT symptoms and complications to prolong life.
<br />
<br />Treating symptoms as they arise will not give the child the best possible chance at a longer life.
<br />
<br />So getting the diagnosis through any means possible is essential.
<br />
<br />Your child is counting on you.
<br />I just don't know whether or not to push for some exact diagnosis, or just treat K for whatever symptoms seem to appear over time.
<br />
<br />
<br /></end quote>
<br />
<br />This is a great point.
<br />
<br />If it is CF, it's important to PREVENT symptoms and complications to prolong life.
<br />
<br />Treating symptoms as they arise will not give the child the best possible chance at a longer life.
<br />
<br />So getting the diagnosis through any means possible is essential.
<br />
<br />Your child is counting on you.