genetic counselling/testing

miss charlie · Apr 23rd, 2009, 06:38 AM

Hi ladies...sorry to X post but it seems the peeps in 1st tri wont touch this with a barge pole so...

I have a genetic eye condition called Aniridia which is caused by a deletion of a gene on my 11th chromosome...as such it is a dominant characteristic so theres a 50:50 chance of passing it on to every child.

I'm very lucky in that I do not suffer anywhere near as badly with my eye condition as others do so with luck if my bubba had it it would still be able to see and lead a relatively normal life - BUT I may end up with a child who is severly visually impaired.

I dont think I could put my bubba at he risk of miscarriage to have the testing required in utero (amniocentisis or CVS) so I have to play the waiting game.

My question is are there any other Mums to be out there that are wrestling with the subject of genetic testing or want to see a genetic consellor?

miss charlie · Apr 23rd, 2009, 07:18 AM

bump....I need someone to talk to...blub

sezzlebum · Apr 23rd, 2009, 07:22 AM

i personally dont think i would have any testing unless the result of the tests actually made a difference as to whether or not i would keep the baby, for this reason i didnt have the screening tests for downs done, just my opinion chick, i think if the results of the test wouldnt make a difference to you as you would keep baby either way then the counselling would be the way to go to prepare for the what if, but thats as far as i would go xxx hugs

miss charlie · Apr 23rd, 2009, 07:31 AM

Is there anyone who has seen a genetic counsellor here? Last time anybodt spoke to me about it I was 13.

I had the tests done as I was curious about the genetics side of things...I was and still am a complete nerd!

Rachel_C · Apr 23rd, 2009, 08:11 AM

Sorry nobody's got back to you yet... hope somebody does! Couldn't you ask to speak to a professional about this? That's what they're there for - to help you understand the pros and cons and all the ins and outs. Maybe your GP could find you details of some kind of support community? I bet there's something out there somewhere!

soon2b6 · Apr 23rd, 2009, 09:20 AM

I dont really know what genetic counselling involves but I dont see how it could be detrimental. Perhaps if you spoke to your gp he could refer you to a counsellor and you could then talk it through with someone properly. I think a referal should be straightforward as I was offered it (due to Autism) I didnt do it cause at the time I didnt think we were going to have another baby (ha ha ha)

djgirl1976 · Apr 23rd, 2009, 09:25 AM

Well, I haven't done it as there has been no known need to, but I know it is pretty common here, especially when the mother's age nears 40+. I want to say someone I knoe said they did it and didn't act like it was a big deal. They probably want to go over case scenarios with you and prepare you for any outcome.
Sorry I can't help more!

HeidiLSparks · Apr 23rd, 2009, 09:28 AM

I havent done it either but I hope you find someone or find some more information on it hon

overcomer79 · Apr 23rd, 2009, 09:53 AM

Hi hon,

I was offered genetic counselling but I did decline it. They offered it to me when I was doing my first trimester screening. I have a genetic "disease" called albinism and it unfortunately comes with being legally blind. I have struggled with this decision but in the end decided not to because they would want to do an amnio. I want James to have abilities that "normal" people have such as driving that so many take for granted, but it wasn't worth risking what I have wanted so long. The only way albinism would pass down to him is if OH is a carrier and we have no family history on him.

Good luck in your decision and do what is right for you. If you need to talk, please feel free to PM me.

bubbness · Apr 23rd, 2009, 10:01 AM

I did the genetic council thing. All she did was sit down with me and bf and ask about family history and such. Then she recommended tests to have but didn't push the subject. It was rather quite nice to be honest. I did have the sequencial (i know i botched that spelling lol) screening which involves 2 blood tests and 2 ultrasounds. I don't have the result yet though cause i still have to go for 2nd round of tests. Do what is in your heart.

Apr 23rd, 2009, 06:38 AM	#1
miss charlie Other Active BnB Member Join Date: Oct 2008 Posts: 217	genetic counselling/testing Hi ladies...sorry to X post but it seems the peeps in 1st tri wont touch this with a barge pole so... I have a genetic eye condition called Aniridia which is caused by a deletion of a gene on my 11th chromosome...as such it is a dominant characteristic so theres a 50:50 chance of passing it on to every child. I'm very lucky in that I do not suffer anywhere near as badly with my eye condition as others do so with luck if my bubba had it it would still be able to see and lead a relatively normal life - BUT I may end up with a child who is severly visually impaired. I dont think I could put my bubba at he risk of miscarriage to have the testing required in utero (amniocentisis or CVS) so I have to play the waiting game. My question is are there any other Mums to be out there that are wrestling with the subject of genetic testing or want to see a genetic consellor?

Status: Offline

Apr 23rd, 2009, 07:18 AM	#2
miss charlie Other Active BnB Member Join Date: Oct 2008 Posts: 217	bump....I need someone to talk to...blub

Status: Offline

Apr 23rd, 2009, 07:22 AM	#3
sezzlebum Mum (Mom) Inactive Join Date: Mar 2009 Location: manchester Posts: 1,779	i personally dont think i would have any testing unless the result of the tests actually made a difference as to whether or not i would keep the baby, for this reason i didnt have the screening tests for downs done, just my opinion chick, i think if the results of the test wouldnt make a difference to you as you would keep baby either way then the counselling would be the way to go to prepare for the what if, but thats as far as i would go xxx hugs

Status: Offline

Apr 23rd, 2009, 07:31 AM	#4
miss charlie Other Active BnB Member Join Date: Oct 2008 Posts: 217	Is there anyone who has seen a genetic counsellor here? Last time anybodt spoke to me about it I was 13. I had the tests done as I was curious about the genetics side of things...I was and still am a complete nerd!

Status: Offline

Apr 23rd, 2009, 08:11 AM	#5
Rachel_C Mum (Mom) BnB Addict Join Date: Mar 2009 Posts: 6,839	Sorry nobody's got back to you yet... hope somebody does! Couldn't you ask to speak to a professional about this? That's what they're there for - to help you understand the pros and cons and all the ins and outs. Maybe your GP could find you details of some kind of support community? I bet there's something out there somewhere!

Status: Offline

Apr 23rd, 2009, 09:20 AM	#6
soon2b6 Mum (Mom) Active BnB Member Join Date: Mar 2009 Location: Lincolnshire Posts: 862	I dont really know what genetic counselling involves but I dont see how it could be detrimental. Perhaps if you spoke to your gp he could refer you to a counsellor and you could then talk it through with someone properly. I think a referal should be straightforward as I was offered it (due to Autism) I didnt do it cause at the time I didnt think we were going to have another baby (ha ha ha)

Status: Offline

Apr 23rd, 2009, 09:25 AM	#7
djgirl1976 Pregnant (Expecting) Chat Happy BnB Member Join Date: Apr 2009 Location: United States Posts: 1,386	Well, I haven't done it as there has been no known need to, but I know it is pretty common here, especially when the mother's age nears 40+. I want to say someone I knoe said they did it and didn't act like it was a big deal. They probably want to go over case scenarios with you and prepare you for any outcome. Sorry I can't help more!

Status: Offline

Apr 23rd, 2009, 09:28 AM	#8
HeidiLSparks Mum (Mom) Chat Happy BnB Member Join Date: Mar 2009 Location: Minnesota Posts: 1,595	I havent done it either but I hope you find someone or find some more information on it hon

Status: Offline

Apr 23rd, 2009, 09:53 AM	#9
overcomer79 Mum (Mom) Chat Happy BnB Member Join Date: Jan 2009 Posts: 1,902	Hi hon, I was offered genetic counselling but I did decline it. They offered it to me when I was doing my first trimester screening. I have a genetic "disease" called albinism and it unfortunately comes with being legally blind. I have struggled with this decision but in the end decided not to because they would want to do an amnio. I want James to have abilities that "normal" people have such as driving that so many take for granted, but it wasn't worth risking what I have wanted so long. The only way albinism would pass down to him is if OH is a carrier and we have no family history on him. Good luck in your decision and do what is right for you. If you need to talk, please feel free to PM me.

Status: Online

Apr 23rd, 2009, 10:01 AM	#10
bubbness Pregnant (Expecting) Active BnB Member Join Date: Feb 2009 Location: boston ma Posts: 285	I did the genetic council thing. All she did was sit down with me and bf and ask about family history and such. Then she recommended tests to have but didn't push the subject. It was rather quite nice to be honest. I did have the sequencial (i know i botched that spelling lol) screening which involves 2 blood tests and 2 ultrasounds. I don't have the result yet though cause i still have to go for 2nd round of tests. Do what is in your heart.

Status: Offline

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