Scared

J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

Was wondering if it makes a difference who does the genetic sscreening? The CF center sent my sons blood to Genzyme to be tested. They assured me they tested for all of the mutations that Ambry does.

The results should be back any day now. The waiting is excruciating!

Thanks for any help.</end quote></div>


It DOES make a difference. It addition to testing for ALL the mutations there are other things related that could/would/should be tested for when trying to give accuracy. IF you have any real ?? on the difference I suggest your ask Steve from Ambry. On the FAMILY section there is a thread at the top that is for Ambry which allows you to ask ??. Steve is fantastic and will give more info!
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

Was wondering if it makes a difference who does the genetic sscreening? The CF center sent my sons blood to Genzyme to be tested. They assured me they tested for all of the mutations that Ambry does.

The results should be back any day now. The waiting is excruciating!

Thanks for any help.</end quote></div>


It DOES make a difference. It addition to testing for ALL the mutations there are other things related that could/would/should be tested for when trying to give accuracy. IF you have any real ?? on the difference I suggest your ask Steve from Ambry. On the FAMILY section there is a thread at the top that is for Ambry which allows you to ask ??. Steve is fantastic and will give more info!
 
M

Mommafirst

Guest
I'm sorry to hear what you are going through. It is incredibly scary, and emotional, and overwhelming. I've been there. All I can say is that you've loved your 11 year old for all this time and if he has CF, he has had it all this time. It doesn't change anything except that now you can get him treatments and do as much preventative care as you can. I'm not saying that you don't get the right to be sad, and grieve, and have moments of terror -- those are all legitimate (and sadly appropriate) emotions. But try to sprinkle in some hope too! There are wonderful treatments and great hope in this field. Its not a joy, by any means, but there is good that comes from all kinds of sorrow. You will surely be inspired if you look around this site and see the adults living with CF, even some who were diagnosed as adults.
 
M

Mommafirst

Guest
I'm sorry to hear what you are going through. It is incredibly scary, and emotional, and overwhelming. I've been there. All I can say is that you've loved your 11 year old for all this time and if he has CF, he has had it all this time. It doesn't change anything except that now you can get him treatments and do as much preventative care as you can. I'm not saying that you don't get the right to be sad, and grieve, and have moments of terror -- those are all legitimate (and sadly appropriate) emotions. But try to sprinkle in some hope too! There are wonderful treatments and great hope in this field. Its not a joy, by any means, but there is good that comes from all kinds of sorrow. You will surely be inspired if you look around this site and see the adults living with CF, even some who were diagnosed as adults.
 
M

Mommafirst

Guest
I'm sorry to hear what you are going through. It is incredibly scary, and emotional, and overwhelming. I've been there. All I can say is that you've loved your 11 year old for all this time and if he has CF, he has had it all this time. It doesn't change anything except that now you can get him treatments and do as much preventative care as you can. I'm not saying that you don't get the right to be sad, and grieve, and have moments of terror -- those are all legitimate (and sadly appropriate) emotions. But try to sprinkle in some hope too! There are wonderful treatments and great hope in this field. Its not a joy, by any means, but there is good that comes from all kinds of sorrow. You will surely be inspired if you look around this site and see the adults living with CF, even some who were diagnosed as adults.
 
T

tizzy

New member
Thanks for your responses. I have gotten a bit stronger since my first posts. I just really am so desperate for the genetic tests to come back so we can move forward and do what we need to do. My little man has been so sick since November-he needs relief and that cannot come until we know what the results are. My fear now is that after waiting all this time that Genzyme is not going to have accurate results and that I will have to do this waiting again!
The stories I have read on this forum are inspirational. I am grateful.
Tizzy
 
T

tizzy

New member
Thanks for your responses. I have gotten a bit stronger since my first posts. I just really am so desperate for the genetic tests to come back so we can move forward and do what we need to do. My little man has been so sick since November-he needs relief and that cannot come until we know what the results are. My fear now is that after waiting all this time that Genzyme is not going to have accurate results and that I will have to do this waiting again!
The stories I have read on this forum are inspirational. I am grateful.
Tizzy
 
T

tizzy

New member
Thanks for your responses. I have gotten a bit stronger since my first posts. I just really am so desperate for the genetic tests to come back so we can move forward and do what we need to do. My little man has been so sick since November-he needs relief and that cannot come until we know what the results are. My fear now is that after waiting all this time that Genzyme is not going to have accurate results and that I will have to do this waiting again!
The stories I have read on this forum are inspirational. I am grateful.
Tizzy
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

Thanks for your responses. I have gotten a bit stronger since my first posts. I just really am so desperate for the genetic tests to come back so we can move forward and do what we need to do. My little man has been so sick since November-he needs relief and that cannot come until we know what the results are. My fear now is that after waiting all this time that Genzyme is not going to have accurate results and that I will have to do this waiting again!

The stories I have read on this forum are inspirational. I am grateful.

Tizzy</end quote></div>


Dont freight yet.........I would think a problem would possibly arise ONLY if you end up falling into a more rare mutation panel. One thing at a time......
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

Thanks for your responses. I have gotten a bit stronger since my first posts. I just really am so desperate for the genetic tests to come back so we can move forward and do what we need to do. My little man has been so sick since November-he needs relief and that cannot come until we know what the results are. My fear now is that after waiting all this time that Genzyme is not going to have accurate results and that I will have to do this waiting again!

The stories I have read on this forum are inspirational. I am grateful.

Tizzy</end quote></div>


Dont freight yet.........I would think a problem would possibly arise ONLY if you end up falling into a more rare mutation panel. One thing at a time......
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

Thanks for your responses. I have gotten a bit stronger since my first posts. I just really am so desperate for the genetic tests to come back so we can move forward and do what we need to do. My little man has been so sick since November-he needs relief and that cannot come until we know what the results are. My fear now is that after waiting all this time that Genzyme is not going to have accurate results and that I will have to do this waiting again!

The stories I have read on this forum are inspirational. I am grateful.

Tizzy</end quote></div>


Dont freight yet.........I would think a problem would possibly arise ONLY if you end up falling into a more rare mutation panel. One thing at a time......
 
T

tizzy

New member
OK The first panel which I was told looks for 87 mutations came back and shows that my son has the Delta F508 mutation. The woman said it will be 2 more weeks before the rest of the tests come back, but felt that the likelihood of my son having CF was slim. He is probably just a carrier.
Has anyone had the first tests come back and then found a rare mutation in the second set of tests?
 
T

tizzy

New member
OK The first panel which I was told looks for 87 mutations came back and shows that my son has the Delta F508 mutation. The woman said it will be 2 more weeks before the rest of the tests come back, but felt that the likelihood of my son having CF was slim. He is probably just a carrier.
Has anyone had the first tests come back and then found a rare mutation in the second set of tests?
 
T

tizzy

New member
OK The first panel which I was told looks for 87 mutations came back and shows that my son has the Delta F508 mutation. The woman said it will be 2 more weeks before the rest of the tests come back, but felt that the likelihood of my son having CF was slim. He is probably just a carrier.
Has anyone had the first tests come back and then found a rare mutation in the second set of tests?
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

OK The first panel which I was told looks for 87 mutations came back and shows that my son has the Delta F508 mutation. The woman said it will be 2 more weeks before the rest of the tests come back, but felt that the likelihood of my son having CF was slim. He is probably just a carrier.

Has anyone had the first tests come back and then found a rare mutation in the second set of tests?</end quote></div>


I know this has happened to someone on here. Cant recall who, but it has happened that is why its suggested to have additional testing done even if its a few years down the line because more mutations can be discovered.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

OK The first panel which I was told looks for 87 mutations came back and shows that my son has the Delta F508 mutation. The woman said it will be 2 more weeks before the rest of the tests come back, but felt that the likelihood of my son having CF was slim. He is probably just a carrier.

Has anyone had the first tests come back and then found a rare mutation in the second set of tests?</end quote></div>


I know this has happened to someone on here. Cant recall who, but it has happened that is why its suggested to have additional testing done even if its a few years down the line because more mutations can be discovered.
 
J

JazzysMom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>tizzy</b></i>

OK The first panel which I was told looks for 87 mutations came back and shows that my son has the Delta F508 mutation. The woman said it will be 2 more weeks before the rest of the tests come back, but felt that the likelihood of my son having CF was slim. He is probably just a carrier.

Has anyone had the first tests come back and then found a rare mutation in the second set of tests?</end quote></div>


I know this has happened to someone on here. Cant recall who, but it has happened that is why its suggested to have additional testing done even if its a few years down the line because more mutations can be discovered.
 
C

Childressj

New member
hey Tizzy
I just got my son's back and the first set set he had delta F508 and the second set said that no other mutations were found, you can review my post on "newly daignosed". The CF Doc just called me and and said that he wanted to run more Test on Trevor because he had many of the "classic CF symtoms" so they are scheduling that right now and he told me "together we will get to the bottom of this" I feel like all these doctors are finally listening to me......If it is not CF , then I am confident that this doctor will help us to find an answer. JC
 
C

Childressj

New member
hey Tizzy
I just got my son's back and the first set set he had delta F508 and the second set said that no other mutations were found, you can review my post on "newly daignosed". The CF Doc just called me and and said that he wanted to run more Test on Trevor because he had many of the "classic CF symtoms" so they are scheduling that right now and he told me "together we will get to the bottom of this" I feel like all these doctors are finally listening to me......If it is not CF , then I am confident that this doctor will help us to find an answer. JC
 
C

Childressj

New member
hey Tizzy
I just got my son's back and the first set set he had delta F508 and the second set said that no other mutations were found, you can review my post on "newly daignosed". The CF Doc just called me and and said that he wanted to run more Test on Trevor because he had many of the "classic CF symtoms" so they are scheduling that right now and he told me "together we will get to the bottom of this" I feel like all these doctors are finally listening to me......If it is not CF , then I am confident that this doctor will help us to find an answer. JC
 
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