Sitting here in tears and am shocked (update)

my65roses4me · Jun 25, 2007

I dont know where to start so I am just going to start typing.

My husband is going to a genetic counselor on Thurs to get a cf panel done to see if he is a carrier because we are considering having a child together.
The genetic counselor needed me to bring in a copy of my mutations so they which ones I have.

All my life my mom told me that I have DDF508. So I called my Dr's and told them that I need a copy of my mutations to take to the counselor. I stated that I know I have ddf508 but they need a copy of it anyways.

But according a the records that my Dr's office has I was genotyped in 2002 and its says that I have W1282x and my second mutation is "unidentified".

This has left me so confused and bewildered!!

I am sitting here crying because I have thought all along that I have two deletion genes and I dont!!!

I am so confused as to how to feel about this. I am crying out of excitement but also because I have always thought different about my CF.

I feel sick to my stomach... I just needed to vent! Has this happened to any of you before????

Does anyone know what w1282x and the unidentified means? What is the difference from that and ddf508 besides the deletion factor. How does it affect the cf differently????

my65roses4me · Jun 25, 2007

I dont know where to start so I am just going to start typing.

My husband is going to a genetic counselor on Thurs to get a cf panel done to see if he is a carrier because we are considering having a child together.
The genetic counselor needed me to bring in a copy of my mutations so they which ones I have.

All my life my mom told me that I have DDF508. So I called my Dr's and told them that I need a copy of my mutations to take to the counselor. I stated that I know I have ddf508 but they need a copy of it anyways.

But according a the records that my Dr's office has I was genotyped in 2002 and its says that I have W1282x and my second mutation is "unidentified".

This has left me so confused and bewildered!!

I am sitting here crying because I have thought all along that I have two deletion genes and I dont!!!

I am so confused as to how to feel about this. I am crying out of excitement but also because I have always thought different about my CF.

I feel sick to my stomach... I just needed to vent! Has this happened to any of you before????

Does anyone know what w1282x and the unidentified means? What is the difference from that and ddf508 besides the deletion factor. How does it affect the cf differently????

my65roses4me · Jun 25, 2007

I dont know where to start so I am just going to start typing.

My husband is going to a genetic counselor on Thurs to get a cf panel done to see if he is a carrier because we are considering having a child together.
The genetic counselor needed me to bring in a copy of my mutations so they which ones I have.

All my life my mom told me that I have DDF508. So I called my Dr's and told them that I need a copy of my mutations to take to the counselor. I stated that I know I have ddf508 but they need a copy of it anyways.

But according a the records that my Dr's office has I was genotyped in 2002 and its says that I have W1282x and my second mutation is "unidentified".

This has left me so confused and bewildered!!

I am sitting here crying because I have thought all along that I have two deletion genes and I dont!!!

I am so confused as to how to feel about this. I am crying out of excitement but also because I have always thought different about my CF.

I feel sick to my stomach... I just needed to vent! Has this happened to any of you before????

Does anyone know what w1282x and the unidentified means? What is the difference from that and ddf508 besides the deletion factor. How does it affect the cf differently????

my65roses4me · Jun 25, 2007

I dont know where to start so I am just going to start typing.

My husband is going to a genetic counselor on Thurs to get a cf panel done to see if he is a carrier because we are considering having a child together.
The genetic counselor needed me to bring in a copy of my mutations so they which ones I have.

All my life my mom told me that I have DDF508. So I called my Dr's and told them that I need a copy of my mutations to take to the counselor. I stated that I know I have ddf508 but they need a copy of it anyways.

But according a the records that my Dr's office has I was genotyped in 2002 and its says that I have W1282x and my second mutation is "unidentified".

This has left me so confused and bewildered!!

I am sitting here crying because I have thought all along that I have two deletion genes and I dont!!!

I am so confused as to how to feel about this. I am crying out of excitement but also because I have always thought different about my CF.

I feel sick to my stomach... I just needed to vent! Has this happened to any of you before????

Does anyone know what w1282x and the unidentified means? What is the difference from that and ddf508 besides the deletion factor. How does it affect the cf differently????

my65roses4me · Jun 25, 2007

I dont know where to start so I am just going to start typing.

My husband is going to a genetic counselor on Thurs to get a cf panel done to see if he is a carrier because we are considering having a child together.
The genetic counselor needed me to bring in a copy of my mutations so they which ones I have.

All my life my mom told me that I have DDF508. So I called my Dr's and told them that I need a copy of my mutations to take to the counselor. I stated that I know I have ddf508 but they need a copy of it anyways.

But according a the records that my Dr's office has I was genotyped in 2002 and its says that I have W1282x and my second mutation is "unidentified".

This has left me so confused and bewildered!!

I am sitting here crying because I have thought all along that I have two deletion genes and I dont!!!

I am so confused as to how to feel about this. I am crying out of excitement but also because I have always thought different about my CF.

I feel sick to my stomach... I just needed to vent! Has this happened to any of you before????

Does anyone know what w1282x and the unidentified means? What is the difference from that and ddf508 besides the deletion factor. How does it affect the cf differently????

my65roses4me · Jun 25, 2007

I dont know where to start so I am just going to start typing.

My husband is going to a genetic counselor on Thurs to get a cf panel done to see if he is a carrier because we are considering having a child together.
The genetic counselor needed me to bring in a copy of my mutations so they which ones I have.

All my life my mom told me that I have DDF508. So I called my Dr's and told them that I need a copy of my mutations to take to the counselor. I stated that I know I have ddf508 but they need a copy of it anyways.

But according a the records that my Dr's office has I was genotyped in 2002 and its says that I have W1282x and my second mutation is "unidentified".

This has left me so confused and bewildered!!

I am sitting here crying because I have thought all along that I have two deletion genes and I dont!!!

I am so confused as to how to feel about this. I am crying out of excitement but also because I have always thought different about my CF.

I feel sick to my stomach... I just needed to vent! Has this happened to any of you before????

Does anyone know what w1282x and the unidentified means? What is the difference from that and ddf508 besides the deletion factor. How does it affect the cf differently????

JazzysMom · Jun 25, 2007

Sitting here in tears and need advice

WOW.....so are you sure the clinic pulled up the right records? IF so then I think you need to speak to your Mom. I mean, I guess it doesnt matter when its all said and done now that you know that its not DDF508 that you have. I am guessing maybe you feel deceived in a way. Since your other gene is unidentified back in 2002 maybe its time to be retested. HUGS to you~

JazzysMom · Jun 25, 2007

Sitting here in tears and need advice

WOW.....so are you sure the clinic pulled up the right records? IF so then I think you need to speak to your Mom. I mean, I guess it doesnt matter when its all said and done now that you know that its not DDF508 that you have. I am guessing maybe you feel deceived in a way. Since your other gene is unidentified back in 2002 maybe its time to be retested. HUGS to you~

JazzysMom · Jun 25, 2007

Sitting here in tears and need advice

WOW.....so are you sure the clinic pulled up the right records? IF so then I think you need to speak to your Mom. I mean, I guess it doesnt matter when its all said and done now that you know that its not DDF508 that you have. I am guessing maybe you feel deceived in a way. Since your other gene is unidentified back in 2002 maybe its time to be retested. HUGS to you~

JazzysMom · Jun 25, 2007

Sitting here in tears and need advice

WOW.....so are you sure the clinic pulled up the right records? IF so then I think you need to speak to your Mom. I mean, I guess it doesnt matter when its all said and done now that you know that its not DDF508 that you have. I am guessing maybe you feel deceived in a way. Since your other gene is unidentified back in 2002 maybe its time to be retested. HUGS to you~

JazzysMom · Jun 25, 2007

Sitting here in tears and need advice

WOW.....so are you sure the clinic pulled up the right records? IF so then I think you need to speak to your Mom. I mean, I guess it doesnt matter when its all said and done now that you know that its not DDF508 that you have. I am guessing maybe you feel deceived in a way. Since your other gene is unidentified back in 2002 maybe its time to be retested. HUGS to you~

JazzysMom · Jun 25, 2007

Sitting here in tears and need advice

WOW.....so are you sure the clinic pulled up the right records? IF so then I think you need to speak to your Mom. I mean, I guess it doesnt matter when its all said and done now that you know that its not DDF508 that you have. I am guessing maybe you feel deceived in a way. Since your other gene is unidentified back in 2002 maybe its time to be retested. HUGS to you~

NoExcuses · Jun 25, 2007

Sitting here in tears and need advice

Hey girl,

First thing's first... please calm down. I know you are suprised, but this is not a cause for alarm.

You know and I know that CF genes don't predict clinical outcome. There are a billion examples of people with the same genes having unbelievably different clinical outcomes. So the fact that you found out you have a different gene does not in any way alter your prognosis!!! 

Now, in terms of finding out what your unidentified gene is, I bet it's a rare one that wasn't picked up on your last genetic screen - so much has changed since 2002!!!!!!

So much has probably changed since your last screen. Call Debbi/Diane right now and ask if they can order an Ambry Full Panel test for you. Go to your local Quest Diagnostics or whoever and get them to draw blood to send off to Ambry.

I know you are startled but really, this doesn't change anything for you. You are taking care of yourself, you live in a low pollution area, etc. and you are at an excellent CF care center. This is what matters. <img src="">

NoExcuses · Jun 25, 2007

Sitting here in tears and need advice

Hey girl,

First thing's first... please calm down. I know you are suprised, but this is not a cause for alarm.

You know and I know that CF genes don't predict clinical outcome. There are a billion examples of people with the same genes having unbelievably different clinical outcomes. So the fact that you found out you have a different gene does not in any way alter your prognosis!!! 

Now, in terms of finding out what your unidentified gene is, I bet it's a rare one that wasn't picked up on your last genetic screen - so much has changed since 2002!!!!!!

So much has probably changed since your last screen. Call Debbi/Diane right now and ask if they can order an Ambry Full Panel test for you. Go to your local Quest Diagnostics or whoever and get them to draw blood to send off to Ambry.

I know you are startled but really, this doesn't change anything for you. You are taking care of yourself, you live in a low pollution area, etc. and you are at an excellent CF care center. This is what matters. <img src="">

NoExcuses · Jun 25, 2007

Sitting here in tears and need advice

Hey girl,

First thing's first... please calm down. I know you are suprised, but this is not a cause for alarm.

You know and I know that CF genes don't predict clinical outcome. There are a billion examples of people with the same genes having unbelievably different clinical outcomes. So the fact that you found out you have a different gene does not in any way alter your prognosis!!! 

Now, in terms of finding out what your unidentified gene is, I bet it's a rare one that wasn't picked up on your last genetic screen - so much has changed since 2002!!!!!!

So much has probably changed since your last screen. Call Debbi/Diane right now and ask if they can order an Ambry Full Panel test for you. Go to your local Quest Diagnostics or whoever and get them to draw blood to send off to Ambry.

I know you are startled but really, this doesn't change anything for you. You are taking care of yourself, you live in a low pollution area, etc. and you are at an excellent CF care center. This is what matters. <img src="">

NoExcuses · Jun 25, 2007

Sitting here in tears and need advice

Hey girl,

First thing's first... please calm down. I know you are suprised, but this is not a cause for alarm.

You know and I know that CF genes don't predict clinical outcome. There are a billion examples of people with the same genes having unbelievably different clinical outcomes. So the fact that you found out you have a different gene does not in any way alter your prognosis!!! 

Now, in terms of finding out what your unidentified gene is, I bet it's a rare one that wasn't picked up on your last genetic screen - so much has changed since 2002!!!!!!

So much has probably changed since your last screen. Call Debbi/Diane right now and ask if they can order an Ambry Full Panel test for you. Go to your local Quest Diagnostics or whoever and get them to draw blood to send off to Ambry.

I know you are startled but really, this doesn't change anything for you. You are taking care of yourself, you live in a low pollution area, etc. and you are at an excellent CF care center. This is what matters. <img src="">

NoExcuses · Jun 25, 2007

Sitting here in tears and need advice

Hey girl,

First thing's first... please calm down. I know you are suprised, but this is not a cause for alarm.

You know and I know that CF genes don't predict clinical outcome. There are a billion examples of people with the same genes having unbelievably different clinical outcomes. So the fact that you found out you have a different gene does not in any way alter your prognosis!!! 

Now, in terms of finding out what your unidentified gene is, I bet it's a rare one that wasn't picked up on your last genetic screen - so much has changed since 2002!!!!!!

So much has probably changed since your last screen. Call Debbi/Diane right now and ask if they can order an Ambry Full Panel test for you. Go to your local Quest Diagnostics or whoever and get them to draw blood to send off to Ambry.

I know you are startled but really, this doesn't change anything for you. You are taking care of yourself, you live in a low pollution area, etc. and you are at an excellent CF care center. This is what matters. <img src="">

NoExcuses · Jun 25, 2007

Sitting here in tears and need advice

Hey girl,

First thing's first... please calm down. I know you are suprised, but this is not a cause for alarm.

You know and I know that CF genes don't predict clinical outcome. There are a billion examples of people with the same genes having unbelievably different clinical outcomes. So the fact that you found out you have a different gene does not in any way alter your prognosis!!! 

Now, in terms of finding out what your unidentified gene is, I bet it's a rare one that wasn't picked up on your last genetic screen - so much has changed since 2002!!!!!!

So much has probably changed since your last screen. Call Debbi/Diane right now and ask if they can order an Ambry Full Panel test for you. Go to your local Quest Diagnostics or whoever and get them to draw blood to send off to Ambry.

I know you are startled but really, this doesn't change anything for you. You are taking care of yourself, you live in a low pollution area, etc. and you are at an excellent CF care center. This is what matters. <img src="">

my65roses4me · Jun 25, 2007

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 · Jun 25, 2007

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!!!

Sitting here in tears and am shocked (update)

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member