Sitting here in tears and am shocked (update)

[my65roses4me]

Sitting here in tears and need advice

Yes I tried to call my mom but had to leave a message. You are right I do feel deceived, very much so. I feel lost and hurt!
I kept asking the dr's office if they had the right file for me and they read back my DOB and my maiden name and it was correct. This is so surreal!!!

 

[my65roses4me]

Sitting here in tears and need advice

Yes I tried to call my mom but had to leave a message. You are right I do feel deceived, very much so. I feel lost and hurt!
I kept asking the dr's office if they had the right file for me and they read back my DOB and my maiden name and it was correct. This is so surreal!!!

 

[my65roses4me]

Sitting here in tears and need advice

Yes I tried to call my mom but had to leave a message. You are right I do feel deceived, very much so. I feel lost and hurt!
I kept asking the dr's office if they had the right file for me and they read back my DOB and my maiden name and it was correct. This is so surreal!!!

 

[my65roses4me]

Sitting here in tears and need advice

Yes I tried to call my mom but had to leave a message. You are right I do feel deceived, very much so. I feel lost and hurt!
I kept asking the dr's office if they had the right file for me and they read back my DOB and my maiden name and it was correct. This is so surreal!!!

 

[my65roses4me]

Sitting here in tears and need advice

Thanks for responding Amy. You are right this doesn't change anything as far as my prognosis but I feel so hurt and shocked. I tried calling Debbie and she is in a meeting and will call in about an hour so I can talk to her. I will keep you posted about what she says. I guess I need to get a panel done. Gosh this is so wierd!


Does anyone know what class the W1282x is in???
I tried going into Ambry thread but it wont let me.

 

[my65roses4me]

Sitting here in tears and need advice

Thanks for responding Amy. You are right this doesn't change anything as far as my prognosis but I feel so hurt and shocked. I tried calling Debbie and she is in a meeting and will call in about an hour so I can talk to her. I will keep you posted about what she says. I guess I need to get a panel done. Gosh this is so wierd!


Does anyone know what class the W1282x is in???
I tried going into Ambry thread but it wont let me.

 

[my65roses4me]

Sitting here in tears and need advice

Thanks for responding Amy. You are right this doesn't change anything as far as my prognosis but I feel so hurt and shocked. I tried calling Debbie and she is in a meeting and will call in about an hour so I can talk to her. I will keep you posted about what she says. I guess I need to get a panel done. Gosh this is so wierd!


Does anyone know what class the W1282x is in???
I tried going into Ambry thread but it wont let me.

 

[my65roses4me]

Sitting here in tears and need advice

Thanks for responding Amy. You are right this doesn't change anything as far as my prognosis but I feel so hurt and shocked. I tried calling Debbie and she is in a meeting and will call in about an hour so I can talk to her. I will keep you posted about what she says. I guess I need to get a panel done. Gosh this is so wierd!


Does anyone know what class the W1282x is in???
I tried going into Ambry thread but it wont let me.

 

[my65roses4me]

Sitting here in tears and need advice

Thanks for responding Amy. You are right this doesn't change anything as far as my prognosis but I feel so hurt and shocked. I tried calling Debbie and she is in a meeting and will call in about an hour so I can talk to her. I will keep you posted about what she says. I guess I need to get a panel done. Gosh this is so wierd!


Does anyone know what class the W1282x is in???
I tried going into Ambry thread but it wont let me.

 

[my65roses4me]

Sitting here in tears and need advice

Thanks for responding Amy. You are right this doesn't change anything as far as my prognosis but I feel so hurt and shocked. I tried calling Debbie and she is in a meeting and will call in about an hour so I can talk to her. I will keep you posted about what she says. I guess I need to get a panel done. Gosh this is so wierd!


Does anyone know what class the W1282x is in???
I tried going into Ambry thread but it wont let me.

 

[Emily65Roses]

Sitting here in tears and need advice

The w1282x is the most common CF gene in Israel, and it's common in general among the Jewish population. Allie's Ry had a DF508 and a w1282x. Since you're looking for info, I will tell you that w1282x is a Class I mutation. But as Amy said, this really means next to nothing. Don't worry about it.

Besides, this means you're cooler. If I had a double DF508 I'd have been bummed about being normal. I'm lucky enough to have a weirdass splice mutation 1898+1G>A (also a Class I, if that makes you feel any better).

This is something I found online. <i>Class I mutations, such as W1282X, produce an early stop codon, unstable mRNA, and absence of CFTR protein.</i> So there you go. The w1282x mutation produces an early stop codon and the writing of the gene stops before it's supposed to. It's also called a nonsense mutation.

( <a target=_blank class=ftalternatingbarlinklarge href="http://www.nature.com/ki/journal/v57/n3/full/4491405a.html">Source</a> - it's in the picture caption )

This is more specific information about the mutation itself:

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539">Mutation data base w1282x results</a>

 

[Emily65Roses]

Sitting here in tears and need advice

The w1282x is the most common CF gene in Israel, and it's common in general among the Jewish population. Allie's Ry had a DF508 and a w1282x. Since you're looking for info, I will tell you that w1282x is a Class I mutation. But as Amy said, this really means next to nothing. Don't worry about it.

Besides, this means you're cooler. If I had a double DF508 I'd have been bummed about being normal. I'm lucky enough to have a weirdass splice mutation 1898+1G>A (also a Class I, if that makes you feel any better).

This is something I found online. <i>Class I mutations, such as W1282X, produce an early stop codon, unstable mRNA, and absence of CFTR protein.</i> So there you go. The w1282x mutation produces an early stop codon and the writing of the gene stops before it's supposed to. It's also called a nonsense mutation.

( <a target=_blank class=ftalternatingbarlinklarge href="http://www.nature.com/ki/journal/v57/n3/full/4491405a.html">Source</a> - it's in the picture caption )

This is more specific information about the mutation itself:

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539">Mutation data base w1282x results</a>

 

[Emily65Roses]

Sitting here in tears and need advice

The w1282x is the most common CF gene in Israel, and it's common in general among the Jewish population. Allie's Ry had a DF508 and a w1282x. Since you're looking for info, I will tell you that w1282x is a Class I mutation. But as Amy said, this really means next to nothing. Don't worry about it.

Besides, this means you're cooler. If I had a double DF508 I'd have been bummed about being normal. I'm lucky enough to have a weirdass splice mutation 1898+1G>A (also a Class I, if that makes you feel any better).

This is something I found online. <i>Class I mutations, such as W1282X, produce an early stop codon, unstable mRNA, and absence of CFTR protein.</i> So there you go. The w1282x mutation produces an early stop codon and the writing of the gene stops before it's supposed to. It's also called a nonsense mutation.

( <a target=_blank class=ftalternatingbarlinklarge href="http://www.nature.com/ki/journal/v57/n3/full/4491405a.html">Source</a> - it's in the picture caption )

This is more specific information about the mutation itself:

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539">Mutation data base w1282x results</a>

 

[Emily65Roses]

Sitting here in tears and need advice

The w1282x is the most common CF gene in Israel, and it's common in general among the Jewish population. Allie's Ry had a DF508 and a w1282x. Since you're looking for info, I will tell you that w1282x is a Class I mutation. But as Amy said, this really means next to nothing. Don't worry about it.

Besides, this means you're cooler. If I had a double DF508 I'd have been bummed about being normal. I'm lucky enough to have a weirdass splice mutation 1898+1G>A (also a Class I, if that makes you feel any better).

This is something I found online. <i>Class I mutations, such as W1282X, produce an early stop codon, unstable mRNA, and absence of CFTR protein.</i> So there you go. The w1282x mutation produces an early stop codon and the writing of the gene stops before it's supposed to. It's also called a nonsense mutation.

( <a target=_blank class=ftalternatingbarlinklarge href="http://www.nature.com/ki/journal/v57/n3/full/4491405a.html">Source</a> - it's in the picture caption )

This is more specific information about the mutation itself:

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539">Mutation data base w1282x results</a>

 

[Emily65Roses]

Sitting here in tears and need advice

The w1282x is the most common CF gene in Israel, and it's common in general among the Jewish population. Allie's Ry had a DF508 and a w1282x. Since you're looking for info, I will tell you that w1282x is a Class I mutation. But as Amy said, this really means next to nothing. Don't worry about it.

Besides, this means you're cooler. If I had a double DF508 I'd have been bummed about being normal. I'm lucky enough to have a weirdass splice mutation 1898+1G>A (also a Class I, if that makes you feel any better).

This is something I found online. <i>Class I mutations, such as W1282X, produce an early stop codon, unstable mRNA, and absence of CFTR protein.</i> So there you go. The w1282x mutation produces an early stop codon and the writing of the gene stops before it's supposed to. It's also called a nonsense mutation.

( <a target=_blank class=ftalternatingbarlinklarge href="http://www.nature.com/ki/journal/v57/n3/full/4491405a.html">Source</a> - it's in the picture caption )

This is more specific information about the mutation itself:

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539">Mutation data base w1282x results</a>

 

[Emily65Roses]

Sitting here in tears and need advice

The w1282x is the most common CF gene in Israel, and it's common in general among the Jewish population. Allie's Ry had a DF508 and a w1282x. Since you're looking for info, I will tell you that w1282x is a Class I mutation. But as Amy said, this really means next to nothing. Don't worry about it.

Besides, this means you're cooler. If I had a double DF508 I'd have been bummed about being normal. I'm lucky enough to have a weirdass splice mutation 1898+1G>A (also a Class I, if that makes you feel any better).

This is something I found online. <i>Class I mutations, such as W1282X, produce an early stop codon, unstable mRNA, and absence of CFTR protein.</i> So there you go. The w1282x mutation produces an early stop codon and the writing of the gene stops before it's supposed to. It's also called a nonsense mutation.

( <a target=_blank class=ftalternatingbarlinklarge href="http://www.nature.com/ki/journal/v57/n3/full/4491405a.html">Source</a> - it's in the picture caption )

This is more specific information about the mutation itself:

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=539">Mutation data base w1282x results</a>

 

[NoExcuses]

Sitting here in tears and need advice

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>my65roses4me</b></i>
but I feel so hurt and shocked.</end quote></div>


Talk through this .... why do you feel hurt?

I understand the shocked, but why the hurt? Do you think someone betrayed you or purposely withheld info?

 

[NoExcuses]

Sitting here in tears and need advice

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>my65roses4me</b></i>
but I feel so hurt and shocked.</end quote></div>


Talk through this .... why do you feel hurt?

I understand the shocked, but why the hurt? Do you think someone betrayed you or purposely withheld info?

 

[NoExcuses]

Sitting here in tears and need advice

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>my65roses4me</b></i>
but I feel so hurt and shocked.</end quote></div>


Talk through this .... why do you feel hurt?

I understand the shocked, but why the hurt? Do you think someone betrayed you or purposely withheld info?

 

[NoExcuses]

Sitting here in tears and need advice

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>my65roses4me</b></i>
but I feel so hurt and shocked.</end quote></div>


Talk through this .... why do you feel hurt?

I understand the shocked, but why the hurt? Do you think someone betrayed you or purposely withheld info?