I'm confused

worriedmom · Jun 14, 2008

Yesterday we took our 4 year old daughter out to CHOP to see a pulmonologist that works out of their CF center. I brought all of her past medical records and all my loot with me and was all prepared as they say to do. We have been going round and round with her being sick for well over a year and a half and she has symptoms of Cf or so the docs say both respiratory and Gastric. She has had 4 sweat tests one came back a 42, a 12, and 2 were no able to collect at all she didn't feel like sweating that day I guess. She has had the Genzyme panle of 97 genes ( I believe) and that came back fine. Her Gi ordered that and then told us we needed to see a pulmo doc after a recent surgery she had in March they found they had a hard time intubating her during surgery and she had had alot of mucous so we had to have this eveluated so off we went yesterday, she also has chhronic sinusitis and a few other respiratory issues. Now, call me crazy but I have heard the CF word thrown around quite abit regarding my daughter and yesterday the pulmo doc told me that because she had the Genzyme test and it was negative I should be satisfied. I want to take his word but the other part of me is that all the other docs we have seen in the past keep bringing it up. I'm confused any ideas of what I should do? I did mention that I wanted the Ambry panel done nad the doctor said it was only going to tell me what genes she may have as the Genzyme analyzes the whole genetic make up or something to that effect and hers was fine. I said I would make arrangement s to pay for it but he kind of brushed me off. We just want to know for sure to put our minds at rest. I pray for all of you wonderful people and your families who are effected by this horrible disease and I wish I could beieive in my gut what he told us yesterday.All of me wants to but I don't as simple as that after hearing some of the stories of misdiagnosis..I'm scared. If I drop this and God forbid she in the future has other symptoms I would never forgive myself. Sorry this is so long but everyone else in my family is saying that I should just accpet she is negative..don't get me wrong I would love to believe it but I am so uneasy about it. Thanks for reading my ramble! Melissa

worriedmom · Jun 14, 2008

Yesterday we took our 4 year old daughter out to CHOP to see a pulmonologist that works out of their CF center. I brought all of her past medical records and all my loot with me and was all prepared as they say to do. We have been going round and round with her being sick for well over a year and a half and she has symptoms of Cf or so the docs say both respiratory and Gastric. She has had 4 sweat tests one came back a 42, a 12, and 2 were no able to collect at all she didn't feel like sweating that day I guess. She has had the Genzyme panle of 97 genes ( I believe) and that came back fine. Her Gi ordered that and then told us we needed to see a pulmo doc after a recent surgery she had in March they found they had a hard time intubating her during surgery and she had had alot of mucous so we had to have this eveluated so off we went yesterday, she also has chhronic sinusitis and a few other respiratory issues. Now, call me crazy but I have heard the CF word thrown around quite abit regarding my daughter and yesterday the pulmo doc told me that because she had the Genzyme test and it was negative I should be satisfied. I want to take his word but the other part of me is that all the other docs we have seen in the past keep bringing it up. I'm confused any ideas of what I should do? I did mention that I wanted the Ambry panel done nad the doctor said it was only going to tell me what genes she may have as the Genzyme analyzes the whole genetic make up or something to that effect and hers was fine. I said I would make arrangement s to pay for it but he kind of brushed me off. We just want to know for sure to put our minds at rest. I pray for all of you wonderful people and your families who are effected by this horrible disease and I wish I could beieive in my gut what he told us yesterday.All of me wants to but I don't as simple as that after hearing some of the stories of misdiagnosis..I'm scared. If I drop this and God forbid she in the future has other symptoms I would never forgive myself. Sorry this is so long but everyone else in my family is saying that I should just accpet she is negative..don't get me wrong I would love to believe it but I am so uneasy about it. Thanks for reading my ramble! Melissa

worriedmom · Jun 14, 2008

Yesterday we took our 4 year old daughter out to CHOP to see a pulmonologist that works out of their CF center. I brought all of her past medical records and all my loot with me and was all prepared as they say to do. We have been going round and round with her being sick for well over a year and a half and she has symptoms of Cf or so the docs say both respiratory and Gastric. She has had 4 sweat tests one came back a 42, a 12, and 2 were no able to collect at all she didn't feel like sweating that day I guess. She has had the Genzyme panle of 97 genes ( I believe) and that came back fine. Her Gi ordered that and then told us we needed to see a pulmo doc after a recent surgery she had in March they found they had a hard time intubating her during surgery and she had had alot of mucous so we had to have this eveluated so off we went yesterday, she also has chhronic sinusitis and a few other respiratory issues. Now, call me crazy but I have heard the CF word thrown around quite abit regarding my daughter and yesterday the pulmo doc told me that because she had the Genzyme test and it was negative I should be satisfied. I want to take his word but the other part of me is that all the other docs we have seen in the past keep bringing it up. I'm confused any ideas of what I should do? I did mention that I wanted the Ambry panel done nad the doctor said it was only going to tell me what genes she may have as the Genzyme analyzes the whole genetic make up or something to that effect and hers was fine. I said I would make arrangement s to pay for it but he kind of brushed me off. We just want to know for sure to put our minds at rest. I pray for all of you wonderful people and your families who are effected by this horrible disease and I wish I could beieive in my gut what he told us yesterday.All of me wants to but I don't as simple as that after hearing some of the stories of misdiagnosis..I'm scared. If I drop this and God forbid she in the future has other symptoms I would never forgive myself. Sorry this is so long but everyone else in my family is saying that I should just accpet she is negative..don't get me wrong I would love to believe it but I am so uneasy about it. Thanks for reading my ramble! Melissa

worriedmom · Jun 14, 2008

Yesterday we took our 4 year old daughter out to CHOP to see a pulmonologist that works out of their CF center. I brought all of her past medical records and all my loot with me and was all prepared as they say to do. We have been going round and round with her being sick for well over a year and a half and she has symptoms of Cf or so the docs say both respiratory and Gastric. She has had 4 sweat tests one came back a 42, a 12, and 2 were no able to collect at all she didn't feel like sweating that day I guess. She has had the Genzyme panle of 97 genes ( I believe) and that came back fine. Her Gi ordered that and then told us we needed to see a pulmo doc after a recent surgery she had in March they found they had a hard time intubating her during surgery and she had had alot of mucous so we had to have this eveluated so off we went yesterday, she also has chhronic sinusitis and a few other respiratory issues. Now, call me crazy but I have heard the CF word thrown around quite abit regarding my daughter and yesterday the pulmo doc told me that because she had the Genzyme test and it was negative I should be satisfied. I want to take his word but the other part of me is that all the other docs we have seen in the past keep bringing it up. I'm confused any ideas of what I should do? I did mention that I wanted the Ambry panel done nad the doctor said it was only going to tell me what genes she may have as the Genzyme analyzes the whole genetic make up or something to that effect and hers was fine. I said I would make arrangement s to pay for it but he kind of brushed me off. We just want to know for sure to put our minds at rest. I pray for all of you wonderful people and your families who are effected by this horrible disease and I wish I could beieive in my gut what he told us yesterday.All of me wants to but I don't as simple as that after hearing some of the stories of misdiagnosis..I'm scared. If I drop this and God forbid she in the future has other symptoms I would never forgive myself. Sorry this is so long but everyone else in my family is saying that I should just accpet she is negative..don't get me wrong I would love to believe it but I am so uneasy about it. Thanks for reading my ramble! Melissa

worriedmom · Jun 14, 2008

Yesterday we took our 4 year old daughter out to CHOP to see a pulmonologist that works out of their CF center. I brought all of her past medical records and all my loot with me and was all prepared as they say to do. We have been going round and round with her being sick for well over a year and a half and she has symptoms of Cf or so the docs say both respiratory and Gastric. She has had 4 sweat tests one came back a 42, a 12, and 2 were no able to collect at all she didn't feel like sweating that day I guess. She has had the Genzyme panle of 97 genes ( I believe) and that came back fine. Her Gi ordered that and then told us we needed to see a pulmo doc after a recent surgery she had in March they found they had a hard time intubating her during surgery and she had had alot of mucous so we had to have this eveluated so off we went yesterday, she also has chhronic sinusitis and a few other respiratory issues. Now, call me crazy but I have heard the CF word thrown around quite abit regarding my daughter and yesterday the pulmo doc told me that because she had the Genzyme test and it was negative I should be satisfied. I want to take his word but the other part of me is that all the other docs we have seen in the past keep bringing it up. I'm confused any ideas of what I should do? I did mention that I wanted the Ambry panel done nad the doctor said it was only going to tell me what genes she may have as the Genzyme analyzes the whole genetic make up or something to that effect and hers was fine. I said I would make arrangement s to pay for it but he kind of brushed me off. We just want to know for sure to put our minds at rest. I pray for all of you wonderful people and your families who are effected by this horrible disease and I wish I could beieive in my gut what he told us yesterday.All of me wants to but I don't as simple as that after hearing some of the stories of misdiagnosis..I'm scared. If I drop this and God forbid she in the future has other symptoms I would never forgive myself. Sorry this is so long but everyone else in my family is saying that I should just accpet she is negative..don't get me wrong I would love to believe it but I am so uneasy about it. Thanks for reading my ramble! Melissa

ktsmom · Jun 14, 2008

I am sure you are VERY worried and confused.

I am as well, because it is one thing to keep pushing docs that aren't familiar with CF. It seems odd, though, that a pulmo with CF experience would treat you this way. Your doc's answer to the Ambry question is baffling to me.

I'm not sure I quite understand what the Genzyme test actually tested for. Please GET A COPY of those test results, if you don't have one already. Make sure you understand how extensive the genetic work-up was. If you have to call Genzyme, do so. You should keep pushing for a full Ambry panel, IMHO. I hope others will respond as well, perhaps those more experienced with having the Genzyme test done.

ktsmom · Jun 14, 2008

I am sure you are VERY worried and confused.

I am as well, because it is one thing to keep pushing docs that aren't familiar with CF. It seems odd, though, that a pulmo with CF experience would treat you this way. Your doc's answer to the Ambry question is baffling to me.

I'm not sure I quite understand what the Genzyme test actually tested for. Please GET A COPY of those test results, if you don't have one already. Make sure you understand how extensive the genetic work-up was. If you have to call Genzyme, do so. You should keep pushing for a full Ambry panel, IMHO. I hope others will respond as well, perhaps those more experienced with having the Genzyme test done.

ktsmom · Jun 14, 2008

I am sure you are VERY worried and confused.

I am as well, because it is one thing to keep pushing docs that aren't familiar with CF. It seems odd, though, that a pulmo with CF experience would treat you this way. Your doc's answer to the Ambry question is baffling to me.

I'm not sure I quite understand what the Genzyme test actually tested for. Please GET A COPY of those test results, if you don't have one already. Make sure you understand how extensive the genetic work-up was. If you have to call Genzyme, do so. You should keep pushing for a full Ambry panel, IMHO. I hope others will respond as well, perhaps those more experienced with having the Genzyme test done.

ktsmom · Jun 14, 2008

I am sure you are VERY worried and confused.

I am as well, because it is one thing to keep pushing docs that aren't familiar with CF. It seems odd, though, that a pulmo with CF experience would treat you this way. Your doc's answer to the Ambry question is baffling to me.

I'm not sure I quite understand what the Genzyme test actually tested for. Please GET A COPY of those test results, if you don't have one already. Make sure you understand how extensive the genetic work-up was. If you have to call Genzyme, do so. You should keep pushing for a full Ambry panel, IMHO. I hope others will respond as well, perhaps those more experienced with having the Genzyme test done.

ktsmom · Jun 14, 2008

I am sure you are VERY worried and confused.
 
 I am as well, because it is one thing to keep pushing docs that aren't familiar with CF. It seems odd, though, that a pulmo with CF experience would treat you this way. Your doc's answer to the Ambry question is baffling to me.
 
 I'm not sure I quite understand what the Genzyme test actually tested for. Please GET A COPY of those test results, if you don't have one already. Make sure you understand how extensive the genetic work-up was. If you have to call Genzyme, do so. You should keep pushing for a full Ambry panel, IMHO. I hope others will respond as well, perhaps those more experienced with having the Genzyme test done.

combo76 · Jun 14, 2008

I am in the same boat as you - both my children have gone to several different docs - and each one mentions/ brings up CF. My 5 year old had major health problems as a newborn & toddler he has had rickets, broken bones, loose bowels, throws up after meals, bile issues, until the age of 4 1/2. They did a sweat to him - it was so low - it came up a 6! I just blew it off - and never thought about CF again. I never even researched CF, when they sweat tested him, later to find out that if you put lotion on a child prior to a sweat test - it can alter it.

Now I have a 2 yr old - that is having issues also. They
brought it up with her - so that's when I dove into this web page/forum & have done some researching.
They ordered a sweat on my daughter - it came up 11- really really low too. But my heart is telling me one thing - so as a mom - I am just following it - I ordered the full panel on her (the CF Complete - so ALL mutations will be covered) I went as far to call the lab prior to taking her to ensure me that it wasn't going to be a waste of a visit/blood draw for my daughter. They have also tested for celiac in my 2 children.

I think you already answered your own question - go with your gut. If you are wrong - so be it, but you will always wonder with every issue that pops up in regard to your daughters health...I am my childs advocate - as well as you are your childs.

This board is great - the people here are really knowledgeable.

And honestly - I find they know a lot of great remedies and great suggestions with things that doctors / nurses never even advise you of.

Best of luck to you & whatever decision you make.

combo76 · Jun 14, 2008

I am in the same boat as you - both my children have gone to several different docs - and each one mentions/ brings up CF. My 5 year old had major health problems as a newborn & toddler he has had rickets, broken bones, loose bowels, throws up after meals, bile issues, until the age of 4 1/2. They did a sweat to him - it was so low - it came up a 6! I just blew it off - and never thought about CF again. I never even researched CF, when they sweat tested him, later to find out that if you put lotion on a child prior to a sweat test - it can alter it.

Now I have a 2 yr old - that is having issues also. They
brought it up with her - so that's when I dove into this web page/forum & have done some researching.
They ordered a sweat on my daughter - it came up 11- really really low too. But my heart is telling me one thing - so as a mom - I am just following it - I ordered the full panel on her (the CF Complete - so ALL mutations will be covered) I went as far to call the lab prior to taking her to ensure me that it wasn't going to be a waste of a visit/blood draw for my daughter. They have also tested for celiac in my 2 children.

I think you already answered your own question - go with your gut. If you are wrong - so be it, but you will always wonder with every issue that pops up in regard to your daughters health...I am my childs advocate - as well as you are your childs.

This board is great - the people here are really knowledgeable.

And honestly - I find they know a lot of great remedies and great suggestions with things that doctors / nurses never even advise you of.

Best of luck to you & whatever decision you make.

combo76 · Jun 14, 2008

I am in the same boat as you - both my children have gone to several different docs - and each one mentions/ brings up CF. My 5 year old had major health problems as a newborn & toddler he has had rickets, broken bones, loose bowels, throws up after meals, bile issues, until the age of 4 1/2. They did a sweat to him - it was so low - it came up a 6! I just blew it off - and never thought about CF again. I never even researched CF, when they sweat tested him, later to find out that if you put lotion on a child prior to a sweat test - it can alter it.

Now I have a 2 yr old - that is having issues also. They
brought it up with her - so that's when I dove into this web page/forum & have done some researching.
They ordered a sweat on my daughter - it came up 11- really really low too. But my heart is telling me one thing - so as a mom - I am just following it - I ordered the full panel on her (the CF Complete - so ALL mutations will be covered) I went as far to call the lab prior to taking her to ensure me that it wasn't going to be a waste of a visit/blood draw for my daughter. They have also tested for celiac in my 2 children.

I think you already answered your own question - go with your gut. If you are wrong - so be it, but you will always wonder with every issue that pops up in regard to your daughters health...I am my childs advocate - as well as you are your childs.

This board is great - the people here are really knowledgeable.

And honestly - I find they know a lot of great remedies and great suggestions with things that doctors / nurses never even advise you of.

Best of luck to you & whatever decision you make.

combo76 · Jun 14, 2008

I am in the same boat as you - both my children have gone to several different docs - and each one mentions/ brings up CF. My 5 year old had major health problems as a newborn & toddler he has had rickets, broken bones, loose bowels, throws up after meals, bile issues, until the age of 4 1/2. They did a sweat to him - it was so low - it came up a 6! I just blew it off - and never thought about CF again. I never even researched CF, when they sweat tested him, later to find out that if you put lotion on a child prior to a sweat test - it can alter it.

Now I have a 2 yr old - that is having issues also. They
brought it up with her - so that's when I dove into this web page/forum & have done some researching.
They ordered a sweat on my daughter - it came up 11- really really low too. But my heart is telling me one thing - so as a mom - I am just following it - I ordered the full panel on her (the CF Complete - so ALL mutations will be covered) I went as far to call the lab prior to taking her to ensure me that it wasn't going to be a waste of a visit/blood draw for my daughter. They have also tested for celiac in my 2 children.

I think you already answered your own question - go with your gut. If you are wrong - so be it, but you will always wonder with every issue that pops up in regard to your daughters health...I am my childs advocate - as well as you are your childs.

This board is great - the people here are really knowledgeable.

And honestly - I find they know a lot of great remedies and great suggestions with things that doctors / nurses never even advise you of.

Best of luck to you & whatever decision you make.

combo76 · Jun 14, 2008

I am in the same boat as you - both my children have gone to several different docs - and each one mentions/ brings up CF. My 5 year old had major health problems as a newborn & toddler he has had rickets, broken bones, loose bowels, throws up after meals, bile issues, until the age of 4 1/2. They did a sweat to him - it was so low - it came up a 6! I just blew it off - and never thought about CF again. I never even researched CF, when they sweat tested him, later to find out that if you put lotion on a child prior to a sweat test - it can alter it.
 
 Now I have a 2 yr old - that is having issues also. They
 brought it up with her - so that's when I dove into this web page/forum & have done some researching.
 They ordered a sweat on my daughter - it came up 11- really really low too. But my heart is telling me one thing - so as a mom - I am just following it - I ordered the full panel on her (the CF Complete - so ALL mutations will be covered) I went as far to call the lab prior to taking her to ensure me that it wasn't going to be a waste of a visit/blood draw for my daughter. They have also tested for celiac in my 2 children.
 
 I think you already answered your own question - go with your gut. If you are wrong - so be it, but you will always wonder with every issue that pops up in regard to your daughters health...I am my childs advocate - as well as you are your childs.
 
 This board is great - the people here are really knowledgeable.
 
 And honestly - I find they know a lot of great remedies and great suggestions with things that doctors / nurses never even advise you of.
 
 Best of luck to you & whatever decision you make.

CJsmom · Jun 14, 2008

I'm going thru the same thing right now with my son too. The docs keep mentioning it but the CF doc thinks its 'unlikely' because he had a borderline sweat test. The doc also doesn't believe that my sons uncle has CF (he was diagnosed in the late 70's) because he has atypical symptoms. Right now we are debating whether or not to just let it go and treat him as symptoms happen, or if we want to travel to see another CF doc.

Keep pushing for the genetic testing, thats what we are doing right now

CJsmom · Jun 14, 2008

I'm going thru the same thing right now with my son too. The docs keep mentioning it but the CF doc thinks its 'unlikely' because he had a borderline sweat test. The doc also doesn't believe that my sons uncle has CF (he was diagnosed in the late 70's) because he has atypical symptoms. Right now we are debating whether or not to just let it go and treat him as symptoms happen, or if we want to travel to see another CF doc.

Keep pushing for the genetic testing, thats what we are doing right now

CJsmom · Jun 14, 2008

I'm going thru the same thing right now with my son too. The docs keep mentioning it but the CF doc thinks its 'unlikely' because he had a borderline sweat test. The doc also doesn't believe that my sons uncle has CF (he was diagnosed in the late 70's) because he has atypical symptoms. Right now we are debating whether or not to just let it go and treat him as symptoms happen, or if we want to travel to see another CF doc.

Keep pushing for the genetic testing, thats what we are doing right now

CJsmom · Jun 14, 2008

I'm going thru the same thing right now with my son too. The docs keep mentioning it but the CF doc thinks its 'unlikely' because he had a borderline sweat test. The doc also doesn't believe that my sons uncle has CF (he was diagnosed in the late 70's) because he has atypical symptoms. Right now we are debating whether or not to just let it go and treat him as symptoms happen, or if we want to travel to see another CF doc.

Keep pushing for the genetic testing, thats what we are doing right now

CJsmom · Jun 14, 2008

I'm going thru the same thing right now with my son too. The docs keep mentioning it but the CF doc thinks its 'unlikely' because he had a borderline sweat test. The doc also doesn't believe that my sons uncle has CF (he was diagnosed in the late 70's) because he has atypical symptoms. Right now we are debating whether or not to just let it go and treat him as symptoms happen, or if we want to travel to see another CF doc.
 
 Keep pushing for the genetic testing, thats what we are doing right now

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