genetic counselling/testing

[miss charlie]

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]

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

 

[sezzlebum]

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]

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]

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]

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]

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]

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

 

[overcomer79]

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]

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.

 

[miss charlie]

I'm just starting to feel the pressure a bit now as if I pass on this problem it is entirely my doing and nothing to do with my OH, and its a 50:50 chance.

I could have a baby with normal vision or I could have a child with Aniridia - they may be lucky enough to have a normal life like me except be unable to drive and be at high risk of glaucoma and sudden onst keratopathy leading to blindness (something I worry about for myself), or they may be born incredibly visually impaired.

I'm just not really sure how to deal with that! Its all a bit much on top of other worries about the pregnancy!

 

[adzuki]

I went to a genetic counsellor - my niece has a developmental delay (Trisomy 18 or 23 - I forget now!) that had serious implications during her birth (he heart stopped beating due to faulty valves and she needed immediate surgery - less than one hour after being born).

They sat me down, too my history and my husband's history, taught us how genetic disorders are passed along (basically when chromosomes translocate from one part to another, or are missing), and then tested my blood to see if I had any translocations - the propensity to translocate (and therefore become at risk for missing a chromosome) can be passed along - and all was fine.

For you, since you know you personally are missing a chromosome, then my guess that they'd give you the chances you already know. I am thinking at this stage, and amnio would likely be the only sure way to find out - but there is a risk.

Going to the genetic counsellor wasn't very tough - just lots of information gathering and giving - perhaps it would help to at least chat with someone there???

Wish I could be of more help!!!

A

 

[adzuki]

PS - Even if you did the test, and it came back positive, it likely wouldn't tell you the severity of the condition in your child. Would it help to know whether it was positive or not, or are you more worried about the severity?

Perhaps it might be helpful to work with your midwife or a counsellor about how to deal with the added worry/burden of knowing that there is a risk, and that it is attibutable to you and your genes?

Sorry you have to go through this hon I hope all turns out OK!!!

A

 

[Septie]

Miss Charlie,

I am so sorry you are worried. I have been in a similar situation: Just found out last week there is a major genetic disease in my Oh's family that they "forgot" to tell us about (I had a CVS done at 11 weeks due to my age, so it would have been easy to add a check for that disease at that stage when we had asked the families about our health history). We freaked out, of course, and reading about it found out that the kids affected have a huge mortality rate, and even when treated "successfully", are always at risk of dying, with daily medication and worries and learning disabilities. So we made an appointment with a genetic counselor, who confirmed our worries, and immediately suggested an amnio...(truthfully, he didn't tell us much more than we already knew!! - except that he had dealt with quite a few families affected and could confirm what a disaster it is - and these families tend to go for genetic testing on future kids)
We felt very conflicted, as I am 19 weeks along, and we already love the bub. Don't think we could go through with a possible abortion at this stage (nor with the prospect of daily lifelong worries about our child, though, so who knows). Sooo. We went to get the amnio anyway - hopefully it will give us peace of mind!!! We are still terrified, though. We'll hear in 3 weeks.
I was quite worried about the amnio, mostly again because it is so late in the pregnancy (I had done the CVS early on on purpose, before we got attached to the baby - it would have been just like a lot of mc in our eyes, and we had gotten pregnant very easily). But the risks are quite low now (apparently well below the 1:200 typically quoted in experienced hands), and we got both procedures done in a high risk unit.
Not sure what to add. Talk to your loved one about the worst case scenario, a majorly visually impaired/blind child. Would you abort if it were affected to an unknown degree and try again for an unaffected baby? Or would it be a minor adjustment in expectations (different type of schools, dealing with visual aids, guide dogs,...)? It's still early in your pregnancy, so you have some time. I personally don't think a genetic counselor will be of much help, as you already know you are a carrier of a dominant trait... It's mostly up to the feelings of you and the baby's father. Perhaps it would help to talk as a couple to people who are more affected by the condition than you?