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Confused and Scared
- Thread starter JPW73101
- Start date
M
Mommafirst
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>JPW73101</b></i>
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote></div>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote></div>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
M
Mommafirst
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>JPW73101</b></i>
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote></div>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote></div>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
M
Mommafirst
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>JPW73101</b></i>
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote></div>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote></div>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
M
Mommafirst
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>JPW73101</b></i>
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote>
I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
M
Mommafirst
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>JPW73101</b></i>
<br />
<br />I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote>
<br />
<br />I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
<br />
<br />I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
<br />
<br />
<br />I got a call back from the nurse, and she said that the test is being done by Genzyme Genetics and it is a full gene sequencing test. Still no results though.</end quote>
<br />
<br />I'm sorry to hear you are going through this. I wonder why the sweat numbers varied so greatly. I'm glad they are doing genetic work. Just so you know, Genzyme does a pretty broad spectrum but it doesn't do deletions and duplications, so it misses like 2% of possible mutations. If your son has one mutation on the genzyme test, definitely push to have the Ambry sequencing, deletions and duplication (called Ambry Amplified) done.
<br />
<br />I don't want to worry you, and I'm not a doctor -- I just can't say what is going to happen, but these ALL sound like classic CF symptoms. HOpefully you'll get a clear answer and have a direction to help your son.
<br />
Hi there, I just wanted to let you know that we are going through the same thing you are right now. My son is 10 and is 49" and 51 lbs. He was referred for testing for failure to thrive, his sweat test was 57 and we are waiting on the amplified genetic testing by genzyme. He has a lot of digestive issues, but not a lot of lung issues. I just want to let you know that I know how hard it is to wait to find out whether or not it is CF. I will keep you in my thoughts and hope that you get the answers you need for your son. Hang in there, this is a great site for support!
Alison
Alison
Hi there, I just wanted to let you know that we are going through the same thing you are right now. My son is 10 and is 49" and 51 lbs. He was referred for testing for failure to thrive, his sweat test was 57 and we are waiting on the amplified genetic testing by genzyme. He has a lot of digestive issues, but not a lot of lung issues. I just want to let you know that I know how hard it is to wait to find out whether or not it is CF. I will keep you in my thoughts and hope that you get the answers you need for your son. Hang in there, this is a great site for support!
Alison
Alison
Hi there, I just wanted to let you know that we are going through the same thing you are right now. My son is 10 and is 49" and 51 lbs. He was referred for testing for failure to thrive, his sweat test was 57 and we are waiting on the amplified genetic testing by genzyme. He has a lot of digestive issues, but not a lot of lung issues. I just want to let you know that I know how hard it is to wait to find out whether or not it is CF. I will keep you in my thoughts and hope that you get the answers you need for your son. Hang in there, this is a great site for support!
Alison
Alison
Hi there, I just wanted to let you know that we are going through the same thing you are right now. My son is 10 and is 49" and 51 lbs. He was referred for testing for failure to thrive, his sweat test was 57 and we are waiting on the amplified genetic testing by genzyme. He has a lot of digestive issues, but not a lot of lung issues. I just want to let you know that I know how hard it is to wait to find out whether or not it is CF. I will keep you in my thoughts and hope that you get the answers you need for your son. Hang in there, this is a great site for support!
Alison
Alison
Hi there, I just wanted to let you know that we are going through the same thing you are right now. My son is 10 and is 49" and 51 lbs. He was referred for testing for failure to thrive, his sweat test was 57 and we are waiting on the amplified genetic testing by genzyme. He has a lot of digestive issues, but not a lot of lung issues. I just want to let you know that I know how hard it is to wait to find out whether or not it is CF. I will keep you in my thoughts and hope that you get the answers you need for your son. Hang in there, this is a great site for support!
<br />Alison
<br />Alison
V
valigirl21
Guest
Like you and Alison, I am going through the same thing...except my new GI doc doesn't want to order the del/dupe testing. He refuses to believe my son has CF, even though he has classic symptoms. The two Ambry tests were neg for mut, but Steve suggested we get the del/ dupe. He looked into my son's tests and said they were not done. He is FTT, PI, resp. issues growth, hormone difcincy, seems to always have a "cold." Sweat test #s 41,44,42 in that order.
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
V
valigirl21
Guest
Like you and Alison, I am going through the same thing...except my new GI doc doesn't want to order the del/dupe testing. He refuses to believe my son has CF, even though he has classic symptoms. The two Ambry tests were neg for mut, but Steve suggested we get the del/ dupe. He looked into my son's tests and said they were not done. He is FTT, PI, resp. issues growth, hormone difcincy, seems to always have a "cold." Sweat test #s 41,44,42 in that order.
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
V
valigirl21
Guest
Like you and Alison, I am going through the same thing...except my new GI doc doesn't want to order the del/dupe testing. He refuses to believe my son has CF, even though he has classic symptoms. The two Ambry tests were neg for mut, but Steve suggested we get the del/ dupe. He looked into my son's tests and said they were not done. He is FTT, PI, resp. issues growth, hormone difcincy, seems to always have a "cold." Sweat test #s 41,44,42 in that order.
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
V
valigirl21
Guest
Like you and Alison, I am going through the same thing...except my new GI doc doesn't want to order the del/dupe testing. He refuses to believe my son has CF, even though he has classic symptoms. The two Ambry tests were neg for mut, but Steve suggested we get the del/ dupe. He looked into my son's tests and said they were not done. He is FTT, PI, resp. issues growth, hormone difcincy, seems to always have a "cold." Sweat test #s 41,44,42 in that order.
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
((((HUGS)))))
V
valigirl21
Guest
Like you and Alison, I am going through the same thing...except my new GI doc doesn't want to order the del/dupe testing. He refuses to believe my son has CF, even though he has classic symptoms. The two Ambry tests were neg for mut, but Steve suggested we get the del/ dupe. He looked into my son's tests and said they were not done. He is FTT, PI, resp. issues growth, hormone difcincy, seems to always have a "cold." Sweat test #s 41,44,42 in that order.
<br />
<br />It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
<br />
<br />((((HUGS)))))
<br />
<br />It really sounds like CF, but how do I know! If it is CF you're in the best place for info and support. Keep us updated, and just know, you're not alone out there.
<br />
<br />((((HUGS)))))