At my Breaking Point

M

Mommafirst

Guest
I'm sorry this is soooo hard. My DH had a hard time with the testing stage too. He didn't think we shouldn't test, but he did think it was pointless. He kept saying, "She's fine!" And it was so hard to have to argue otherwise, because who WANTS their kid to have this.

You are doing great!! Hang in there!!! Hopefully you'll get some answers. And if the worst thing turns out to be your DH was right, well you'll deal with that later!!!

Best of luck!!!
 
M

Mommafirst

Guest
I'm sorry this is soooo hard. My DH had a hard time with the testing stage too. He didn't think we shouldn't test, but he did think it was pointless. He kept saying, "She's fine!" And it was so hard to have to argue otherwise, because who WANTS their kid to have this.

You are doing great!! Hang in there!!! Hopefully you'll get some answers. And if the worst thing turns out to be your DH was right, well you'll deal with that later!!!

Best of luck!!!
 
M

Mommafirst

Guest
I'm sorry this is soooo hard. My DH had a hard time with the testing stage too. He didn't think we shouldn't test, but he did think it was pointless. He kept saying, "She's fine!" And it was so hard to have to argue otherwise, because who WANTS their kid to have this.

You are doing great!! Hang in there!!! Hopefully you'll get some answers. And if the worst thing turns out to be your DH was right, well you'll deal with that later!!!

Best of luck!!!
 
M

Mommafirst

Guest
I'm sorry this is soooo hard. My DH had a hard time with the testing stage too. He didn't think we shouldn't test, but he did think it was pointless. He kept saying, "She's fine!" And it was so hard to have to argue otherwise, because who WANTS their kid to have this.

You are doing great!! Hang in there!!! Hopefully you'll get some answers. And if the worst thing turns out to be your DH was right, well you'll deal with that later!!!

Best of luck!!!
 
O

okok

New member
Of course it is possible that your son is skinny due to genetics and that he is perfectly healthy but that is not the point! The point is that no one knows why he is having trouble gaining and if it is something serious like CF then it is best to find out as soon as possible so he can be treated and get back to growing normally. Maybe your husband would have an easier time with the testing if he looked at it like this???

You might be able to convince them to do the ambry genetics testing now and it is worth a shot. If you can't AND if nothing (or just 1 mutation) turns up with this genetic testing I am CERTAIN you will be able to convince them to do the ambry amplified testing then. It would be great if doctors ordered it right off the bat but they usually don't.

Good luck! let us know how it goes.
 
O

okok

New member
Of course it is possible that your son is skinny due to genetics and that he is perfectly healthy but that is not the point! The point is that no one knows why he is having trouble gaining and if it is something serious like CF then it is best to find out as soon as possible so he can be treated and get back to growing normally. Maybe your husband would have an easier time with the testing if he looked at it like this???

You might be able to convince them to do the ambry genetics testing now and it is worth a shot. If you can't AND if nothing (or just 1 mutation) turns up with this genetic testing I am CERTAIN you will be able to convince them to do the ambry amplified testing then. It would be great if doctors ordered it right off the bat but they usually don't.

Good luck! let us know how it goes.
 
O

okok

New member
Of course it is possible that your son is skinny due to genetics and that he is perfectly healthy but that is not the point! The point is that no one knows why he is having trouble gaining and if it is something serious like CF then it is best to find out as soon as possible so he can be treated and get back to growing normally. Maybe your husband would have an easier time with the testing if he looked at it like this???

You might be able to convince them to do the ambry genetics testing now and it is worth a shot. If you can't AND if nothing (or just 1 mutation) turns up with this genetic testing I am CERTAIN you will be able to convince them to do the ambry amplified testing then. It would be great if doctors ordered it right off the bat but they usually don't.

Good luck! let us know how it goes.
 
O

okok

New member
Of course it is possible that your son is skinny due to genetics and that he is perfectly healthy but that is not the point! The point is that no one knows why he is having trouble gaining and if it is something serious like CF then it is best to find out as soon as possible so he can be treated and get back to growing normally. Maybe your husband would have an easier time with the testing if he looked at it like this???

You might be able to convince them to do the ambry genetics testing now and it is worth a shot. If you can't AND if nothing (or just 1 mutation) turns up with this genetic testing I am CERTAIN you will be able to convince them to do the ambry amplified testing then. It would be great if doctors ordered it right off the bat but they usually don't.

Good luck! let us know how it goes.
 
O

okok

New member
Of course it is possible that your son is skinny due to genetics and that he is perfectly healthy but that is not the point! The point is that no one knows why he is having trouble gaining and if it is something serious like CF then it is best to find out as soon as possible so he can be treated and get back to growing normally. Maybe your husband would have an easier time with the testing if he looked at it like this???

You might be able to convince them to do the ambry genetics testing now and it is worth a shot. If you can't AND if nothing (or just 1 mutation) turns up with this genetic testing I am CERTAIN you will be able to convince them to do the ambry amplified testing then. It would be great if doctors ordered it right off the bat but they usually don't.

Good luck! let us know how it goes.
 
O

okok

New member
Of course it is possible that your son is skinny due to genetics and that he is perfectly healthy but that is not the point! The point is that no one knows why he is having trouble gaining and if it is something serious like CF then it is best to find out as soon as possible so he can be treated and get back to growing normally. Maybe your husband would have an easier time with the testing if he looked at it like this???

You might be able to convince them to do the ambry genetics testing now and it is worth a shot. If you can't AND if nothing (or just 1 mutation) turns up with this genetic testing I am CERTAIN you will be able to convince them to do the ambry amplified testing then. It would be great if doctors ordered it right off the bat but they usually don't.

Good luck! let us know how it goes.
 
2

2sickkids

Guest
You have to get pretty stubborn w/dr's some times. I have many times know it sounds bad. But, they aren't there all the time. As far as the denial thing some ppl do it my prettier half not long ago quit it about our youngest he will be 3 in 1 1/2 month even w/ dna and sweat test. Our oldest is going on 5 both have cf.
 
2

2sickkids

Guest
You have to get pretty stubborn w/dr's some times. I have many times know it sounds bad. But, they aren't there all the time. As far as the denial thing some ppl do it my prettier half not long ago quit it about our youngest he will be 3 in 1 1/2 month even w/ dna and sweat test. Our oldest is going on 5 both have cf.
 
2

2sickkids

Guest
You have to get pretty stubborn w/dr's some times. I have many times know it sounds bad. But, they aren't there all the time. As far as the denial thing some ppl do it my prettier half not long ago quit it about our youngest he will be 3 in 1 1/2 month even w/ dna and sweat test. Our oldest is going on 5 both have cf.
 
2

2sickkids

Guest
You have to get pretty stubborn w/dr's some times. I have many times know it sounds bad. But, they aren't there all the time. As far as the denial thing some ppl do it my prettier half not long ago quit it about our youngest he will be 3 in 1 1/2 month even w/ dna and sweat test. Our oldest is going on 5 both have cf.
 
2

2sickkids

Guest
You have to get pretty stubborn w/dr's some times. I have many times know it sounds bad. But, they aren't there all the time. As far as the denial thing some ppl do it my prettier half not long ago quit it about our youngest he will be 3 in 1 1/2 month even w/ dna and sweat test. Our oldest is going on 5 both have cf.
 
2

2sickkids

Guest
You have to get pretty stubborn w/dr's some times. I have many times know it sounds bad. But, they aren't there all the time. As far as the denial thing some ppl do it my prettier half not long ago quit it about our youngest he will be 3 in 1 1/2 month even w/ dna and sweat test. Our oldest is going on 5 both have cf.
 
N

NoExcuses

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

<b>sakasuka</b>-I just called the Ped office and told them to call Children's and change it to a full panel if possible with the amount of blood they took. Thanks. I'm really trying to stay focused here.



The lab guy told me that the 70 mutations tested for will pick up 91% of the genes. Why not just test for all of them right off?</end quote></div>



High 5 my friend. You're doing the right thing....

I think it's pointless to not test for 100% of known genes.

Congrats. Hopefully the Ambry Full Panel will come back soon <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

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

<b>sakasuka</b>-I just called the Ped office and told them to call Children's and change it to a full panel if possible with the amount of blood they took. Thanks. I'm really trying to stay focused here.



The lab guy told me that the 70 mutations tested for will pick up 91% of the genes. Why not just test for all of them right off?</end quote></div>



High 5 my friend. You're doing the right thing....

I think it's pointless to not test for 100% of known genes.

Congrats. Hopefully the Ambry Full Panel will come back soon <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

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

<b>sakasuka</b>-I just called the Ped office and told them to call Children's and change it to a full panel if possible with the amount of blood they took. Thanks. I'm really trying to stay focused here.



The lab guy told me that the 70 mutations tested for will pick up 91% of the genes. Why not just test for all of them right off?</end quote></div>



High 5 my friend. You're doing the right thing....

I think it's pointless to not test for 100% of known genes.

Congrats. Hopefully the Ambry Full Panel will come back soon <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

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

<b>sakasuka</b>-I just called the Ped office and told them to call Children's and change it to a full panel if possible with the amount of blood they took. Thanks. I'm really trying to stay focused here.



The lab guy told me that the 70 mutations tested for will pick up 91% of the genes. Why not just test for all of them right off?</end quote></div>



High 5 my friend. You're doing the right thing....

I think it's pointless to not test for 100% of known genes.

Congrats. Hopefully the Ambry Full Panel will come back soon <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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