G576A and R668C

miesl

New member
Anyone have both of these mutations? I want to pester you for more information.

UPDATE: Testing on my parents showed that the mutations are both on the same chromosome, and I am a carrier.
 

miesl

New member
Anyone have both of these mutations? I want to pester you for more information.

UPDATE: Testing on my parents showed that the mutations are both on the same chromosome, and I am a carrier.
 

miesl

New member
Anyone have both of these mutations? I want to pester you for more information.

UPDATE: Testing on my parents showed that the mutations are both on the same chromosome, and I am a carrier.
 

NoExcuses

New member
<img src="i/expressions/face-icon-small-smile.gif" border="0"> glad you found out your mutations....

i have no insight to offer you
 

NoExcuses

New member
<img src="i/expressions/face-icon-small-smile.gif" border="0"> glad you found out your mutations....

i have no insight to offer you
 

NoExcuses

New member
<img src="i/expressions/face-icon-small-smile.gif" border="0"> glad you found out your mutations....

i have no insight to offer you
 

miesl

New member
Amy, I don't know what your deal is. I'm sort of aware what this "team" is about, seeing as I'm married to a CF patient. Rightfully so, it's not a team I have ANY desire to join. In fact, it's not a team I EXPECTED to even have a chance of joining. I went for a simple carrier screen, hoping that worst case I was a carrier, best case - I come out clean. I wasn't expecting it to end up best #$#&$ing case carrier, worst case CF. Your complete lack of anything resembling "tact" or "sympathy" is greatly unappreciated. Really, didn't you learn the lesson in grade school "If you don't have anything nice to say, shut the heck up?" I'm pretty darn sure that in this situation I have every darn right to be PO-ed about the hand I'm currently drawing.

Jennifer - yes, it was a carrier screen. At this point, we're hoping I win the genetic freakshow lottery and have both my mutations on one chromosome - making me only a carrier. It's been reported before with those two mutations, but they've also been reported separately. Surprise! I'm telling you, I better get a nicer surprise from the universe next time.
 

miesl

New member
Amy, I don't know what your deal is. I'm sort of aware what this "team" is about, seeing as I'm married to a CF patient. Rightfully so, it's not a team I have ANY desire to join. In fact, it's not a team I EXPECTED to even have a chance of joining. I went for a simple carrier screen, hoping that worst case I was a carrier, best case - I come out clean. I wasn't expecting it to end up best #$#&$ing case carrier, worst case CF. Your complete lack of anything resembling "tact" or "sympathy" is greatly unappreciated. Really, didn't you learn the lesson in grade school "If you don't have anything nice to say, shut the heck up?" I'm pretty darn sure that in this situation I have every darn right to be PO-ed about the hand I'm currently drawing.

Jennifer - yes, it was a carrier screen. At this point, we're hoping I win the genetic freakshow lottery and have both my mutations on one chromosome - making me only a carrier. It's been reported before with those two mutations, but they've also been reported separately. Surprise! I'm telling you, I better get a nicer surprise from the universe next time.
 

miesl

New member
Amy, I don't know what your deal is. I'm sort of aware what this "team" is about, seeing as I'm married to a CF patient. Rightfully so, it's not a team I have ANY desire to join. In fact, it's not a team I EXPECTED to even have a chance of joining. I went for a simple carrier screen, hoping that worst case I was a carrier, best case - I come out clean. I wasn't expecting it to end up best #$#&$ing case carrier, worst case CF. Your complete lack of anything resembling "tact" or "sympathy" is greatly unappreciated. Really, didn't you learn the lesson in grade school "If you don't have anything nice to say, shut the heck up?" I'm pretty darn sure that in this situation I have every darn right to be PO-ed about the hand I'm currently drawing.

Jennifer - yes, it was a carrier screen. At this point, we're hoping I win the genetic freakshow lottery and have both my mutations on one chromosome - making me only a carrier. It's been reported before with those two mutations, but they've also been reported separately. Surprise! I'm telling you, I better get a nicer surprise from the universe next time.
 

blindhearted

New member
Miesl, I'm sorry that was your result. I'm at a loss for words. So, does this mean you have confirmed CF? Can they do another test to make sure the results are correct and were not mixed up? Everyone makes mistakes, including doctors and labs...maybe they mixed yours with someone else. I dont recall reading anything on the boards where you had unexplained lung or digestive problems. Plus, given the fact you are married to a CFer, you will want to be completely sure of those results. I would ask for another test...just to confirm. I'll be praying for you. Good luck.
 

blindhearted

New member
Miesl, I'm sorry that was your result. I'm at a loss for words. So, does this mean you have confirmed CF? Can they do another test to make sure the results are correct and were not mixed up? Everyone makes mistakes, including doctors and labs...maybe they mixed yours with someone else. I dont recall reading anything on the boards where you had unexplained lung or digestive problems. Plus, given the fact you are married to a CFer, you will want to be completely sure of those results. I would ask for another test...just to confirm. I'll be praying for you. Good luck.
 
Top