Thread about a thread sorry - but genetic counselling

(90 Posts)
boringnickname Sun 29-Apr-12 09:32:22

Having read that horrible thread about genetic counselling, i wanted to ask the question - Does genetic counselling have a use? The consensus seems to be that it is a bad thing? It does have a tinge of eugenics about it?

I think there is a definate value of being able to screen for genetic conditions, especially if there is history. Not so a decision to terminate can be taken but so that parents can be prepared if there is a likelihood of problems but also to know there are no problems? rather than go through a whole pregnancy not knowing?

Also, i do not know if there is anything like this available but i would hope that one day, there woudl be the possibility of gene therapy in utero, this can only be a good thing?

I am sorry to start a thread about a thread, but that was never going to be a rational discussion as the OP was so vile, but i do think that genetic counselling/screening is useful.

I had tests for downs like im sure many of us had, being an older mother it was reassuring for me, if the results had shown a high possibility of my child having downs syndrome i would have still continued with the pregnancy but i would have been prepared.

MrsMicawber Sun 29-Apr-12 11:05:55

KateSpade there is the added factor that the results of testing in untero are often wrong. My friend caught a virus in early pregnancy and was told her baby would be a vegetable. She went ahead with the pregnancy and while her child has microcephaly and another condition - where one side of the body is rigid and the other side has no muscle tone, I can't remember what its called - she is by no means a vegetable and can smile, gurgle and stand up using a frame (at 2 years).

outraged I understand if they saw it as a formality, but the reasons for testing are good ones!

MrsMicawber Sun 29-Apr-12 11:07:18

claw we test for
Tay-Sachs disease
Familial dysautonomia
Cystic fibrosis
Canavan disease
Glycogen storage disease (type 1)
Fanconi anemia (type C)
Bloom syndrome
Niemann–Pick disease
Mucolipidosis (type IV)
Gaucher's disease

MsGee Sun 29-Apr-12 11:09:46

I have been offered genetic counselling following TFMR because of anencephaly. I want to do it because I don't want DD to go through the same thing in the future.

I have had the papers for 9 months and not done it yet. Part of me doesn't want to deal with it just yet. We've already taken the decision not to ttc again because the previous experience was so traumatic. I was amazed at how little '' counselling' goes along with the tests. We were told to just try again with extra folic acid, that I'm at greater risk of mc and if it happens again I can just have a termination at 12 weeks.

youoldslag (((( ))))

KateSpade Sun 29-Apr-12 11:10:53

Yes, that aswell. Mrsmicawber I bet your friend feels keeping her baby was the best thing she ever did. I think it brings it home when you hear about things like that.

Years ago, probably about 35 now, my Auntie had a baby with downs syndrome. As soon as he was born they took him off her and said she didnt have to even look at him, and he would be taken to a ''mental home'' and she could forget all about it. Obviously she didnt, and he brought so much joy to everyones lives. Yes at some points he was very ill, but that didnt matter to her at all.

boringnickname Sun 29-Apr-12 11:12:13

claw4 - good point. I don't think there would be any suggestion that parents would teminate a pregnancy based on that information. So like you say, that begs the question what is the point? For me, i can only see at this stage that it would be to gather information to enable identification of a "common factor", but as you say, it is more likely to be FactorS, in the plural. Understanding the causes of a condition is half of the battle in treating it though. There are genetic therapies available for conditions such as cystic fibrosis. If a condition has genetic origin there is potential for gene therapy. I am not sure if ASD would qualify as a potential candidate, but it would be good if it was? wouldnt it?

I agree with you to a degree as of course ASD, isnt a condition that would prompt a termination, but as a parent of a child ASD do you feel you would have benefitted from knowing earlier on that there was an issue? in terms of how you felt about it or putting strategies in place to help your son? I am aware that the earlier it is picked up, the better the outcome in terms of development etc? My daughter struggles with reading, i am concerned she may be dyspraxic but the school have told me it is too early to dx, i would very much like to know one way or ther other so that i can do what i can to assist her, if indeed she needs it. A genetic test would give me that answer, id like to have it.

tryingtoleave Sun 29-Apr-12 11:13:58

I think posters are confused about what genetic counseling is.

I have been to see a genetic counsellor twice. The first time was because I wanted to find out if there was a chance I would pass on a genetic condition that was in my family. I was not pregnant at the time.

The second time was because I found out that my mother carried the brca gene that increases your risk of breast and ovarian cancer. I found out that I carried the gene and as a result I was offered screenings for breast cancer which I wouldn't be eligible for otherwise.

MrsMicawber Sun 29-Apr-12 11:15:04

Yes, of course, KateSpade and her child is very much loved and part of the family.

OTOH DH has a cousin who was put into a home at birth because he had DS, this was 30 odd years ago. It needs to be remembered though that the incredible amount of progress that has been made in the last 30 years is what makes it usual to keep DS children at home, in terms of medical attitudes especially.

boringnickname Sun 29-Apr-12 11:15:06

KateSpade - that is such a sad story, well not sad because your aunt didn't abandon her child, but sad that it was what she was expected to do. Out of sight, out of mind - horrible sad and unnecessary

KateSpade Sun 29-Apr-12 11:16:58

Yes, actually i've just realised i have got a tad mixed up. Its where they take the potentially harmfull material out of the DNA. In order to stop the baby having those conditions. isn't it?

Jumped the gun a bit their.

fullofregrets Sun 29-Apr-12 11:16:58

It's a difficult subject.
I was screened carefully (not for genetic conditions) but because of being diabetic. It means I am much more likely to have a baby with conditions such as cerebal palsy. However, although I wanted to know I don't think I would have terminated unless I'd been advised that my baby would have no quality of life or would suffer. It is diffifllult for the doctors to be that specific though.

My friend terminated a pregnancy where she was told that the baby would only live for a matter of hours and would be very deformed. I think in that instance I would do the same.

It's an awful situation to be in because it is filled with so much uncertainty. It is also an extremely contentious issue.

tryingtoleave Sun 29-Apr-12 11:17:07

It makes sense to offer genetic counseling to a parent of an asd child. The parent might want to know if it is hereditary and what are the chances of a second child also being asd. A genetic counselor could tell them what the current position of the science is (even if that means telling them that it is unknown). Nothing to do with screening a foetus.

Madsometimes Sun 29-Apr-12 11:18:42

There is a use for genetic counselling, but many people like me with genetic conditions do decide to go ahead and have children anyway.

Genetic conditions vary hugely, and IMO people's perception of them is skewed by how much experience they have. For example, if two deaf people have counselling and are told their children have a high probability of being deaf, they will probably accept the news a lot more calmly than if an average hearing couple is told this.

Not all genetic conditions entail serious disability. Most people with genetic conditions live their lives, go to school, college and work and do what everybody else does. Having a family is something that many people want to do, and people with genetic conditions are no different.

Perhaps some people think my dh and I were wrong to have children knowing that there was a 1 in 2 chance of passing on a dominant genetic disorder.

tryingtoleave Sun 29-Apr-12 11:19:42

No, katespade, genetic counseling is just talking to a geneticist. They tell you what is known about a condition, what tests might be available, the pros and cons of taking tests. In my case they seemed very concerned not to push me either way.

ToothbrushThief Sun 29-Apr-12 11:24:44

As trying to leave says... genetic counselling is about looking at your genes to see if you carry something which might pass to a child.
Ante natal screening is about screening a pregnancy and making decisions following the results.

They are different but similar and many of the issues cross over, because genetic screening gives a risk but no cure...other than to futher test a foetus and then act (if this is your decision)

As I said on the other thread I think it's hypocritical to declare all testing 'eugenics' since nearly every pregnancy is screened ante nataly in one form or another.

I worked in this area and spoke to many mothers who claimed they would continue a pregnancy but wished to be 'informed'. Nearly 100% terminated the pregnancy when they had bad news.

The parents with a disabled child were often those that had extensive screening to look at their risk second time around -this is because for many of them they knew that no matter how heroic they are (and they are) their resources are finite and another child with special needs might mean they could not cope.

This is a terribly emotive subject but it's good to discuss in a calm and measured way. For too long it's been covered up. Many women make choices and then have to live with guilt. Yet evidence is that their contemporaries would have made similar choices.

Having testing does not make you an ogre. It does not mean you are practicing eugenics. It does not mean you wouldn't roll over and die for your beautiful loved DC with special needs. It's a complex decision and causes many parents much angst

Don't judge a man until you have walked a mile in their shoes is a saying which springs to mind.

Puffinsaresmall Sun 29-Apr-12 11:26:15

We had genetic counselling after our dd was born. She was born with a slight 'abnormality' and in some cases that can indicate a rare condition that usually means a child does not survive into their teenage years.

It was very stressful waiting for the appointment and then the results (all clear) and the geneticist seemed annoyed with the hospital for referring us as it had caused a lot of worry for what was a very slim chance of anything being seriously wrong.

However, if she had not been given the all clear then at least we would have been able to start treatment straight away.

ToothbrushThief Sun 29-Apr-12 11:30:06

The other thread was despicable btw because it spoke of an individual and made a sweeping judgement.

I realise that many will take issue with my post and it does 'generalise'. it's almost unavoidable and I'm quoting anecdotal experience.

My sister has severe disability. I was screened in pregnancy, aware that it was almost like saying I wouldn't wish her to be born. It caused me much distress because that is so far from the truth. She is a loved treasured member of our family.

I think everyone has the right to make their own choice on this one way or another.

Toothbrushthief- what a brilliant post. Far more eloquent than anything I could have said.

thegreylady Sun 29-Apr-12 11:30:53

I had genetic counselling because both my dh and my dad had MS and I wanted to know the risks for DC. I know several people who have been screened for genes related to breast cancer so that their dds could have early screening.

KateSpade Sun 29-Apr-12 11:30:55

It was literally that boring Its shocking to hear something like that now. I cant believe they used to do stuff back then!

Ahh, thats what i originally though it was, toothbrush & leave but i have heard about DNA screenings. I agree with that, as its a bit more like prevention. & i think its a good idea to do all the tests you can to see whats happening, its like going into it with your eyes wide open. Its the people behind the decisions & what they choose thats sad!

But, i suppose, who am i to judge anyone really?

MrAlbertoFrog Sun 29-Apr-12 11:30:59

I didn't see the original thread so not sure what the background to this thread is. Just wanted to add a few bits of info.

There is definitely work being carried out into the genetics of ASD as there is a genetic component (I have worked in this field), but it is generally not a simple case of 'if you have the mutated gene you will have ASD' more that a mutation in a gene gives a predisposition to ASD. And I have not seen anyone suggest prenatal diagnosis of ASD related genetic changes!

'Conditions where a baby might go to term and have a very short and painful life' which have genetic causes that can currently be tested prenatally would include triploidy, Edwards or Patou syndrome (currently tested alongside the Down syndrome tests if amniocentesis or cvs are carried out), and also chromosome rearrangements resulting in large imbalance of genetic material, infantile Spinal Muscular Atrophy..there are more.. but still the decision on whether parents want the information and what they choose to do knowing it should be up to them IMO.

There is a survey by the Wellcome Trust (charity) at www.genomethics.org/ which is trying to collect people's opinions on what the UK should do with genetic data and how people feel about genetic testing. I would recommend anyone with a strong opinion to have a go at their questionnaire (I don't work for them).

LalaDipsey Sun 29-Apr-12 11:40:28

Claw & Boring - my dh has a chromosomal abnormality which only causes him to have a very low sperm count - however any dc we have could be one of 3 types
- not inherit any part of the abnormality
- inherit and be like dh - 'normal' apart from fertility issues
- be extremely poorly due to chromosome abnormality - to the extent of dying within a few hours/days of being born
Since we had to go down the ivf route anyway due to his sperm count we also chose to have the embryos genetically tested to 95% rule out option 3
We now have 3 dc and chose not to have additional testing at 12 weeks as would not have aborted at this rage regardless. We thought anything else might show up at 20 weeks if there was an issue to give us time to prepare.
We have 3 beautiful dc now - 1 is genetically normal, 1 will have fertility issues like dh and the 3rd hasn't been tested yet as she didn't have enough cord blood.
The genetic counselling we received to help us make our decisions was great.
Very interesting and very emotive topic.

boringnickname Sun 29-Apr-12 11:40:34

Thanks for that MrFrog. Will have a look. For me, it isnt an issue in terms of myself in pregnany as i am not having anymore children, but it is certainly very interesting.

ToothbrushThief Sun 29-Apr-12 11:40:43

Thank you Toughasoldboots. It's a subject which causes me much angst and is not black and white

KateSpade-there is I believe high level (experiemental?) work looking at whether it's possible to correct a gene issue. If we could and could remove conditions which cause painful conditions, life limiting illnesses etc would you do it? Does it equate to eugenics and wanting to rid the planet of anyone less than perfect?

2shoes Sun 29-Apr-12 11:44:46

thank you mn hq for moving this.

claw4 Sun 29-Apr-12 11:45:05

Boringnickname - "If a condition has genetic origin there is potential for gene therapy. I am not sure if ASD would qualify as a potential candidate, but it would be good if it was? wouldnt it?"

I see ds as whole, which includes his difficulties. Ds is who is he, he isnt defined by his disability. Which bits could i take away, which bits would i leave? Difficulties as well as strengths is what makes a person who they are. When i see ds being bullied for being different for example i dont think i would like to change ds, i think i would like to change the bullies. So would screening for ASD (if it were possible) help or hinder the discrimination or negative views that already exists, hinder would be my guess.

"as a parent of a child ASD do you feel you would have benefitted from knowing earlier on that there was an issue? in terms of how you felt about it or putting strategies in place to help your son"

No i dont think it would have helped, all screening can do is tell you there is a risk. I already knew there was a risk, i also knew there was a risk of miscarriage too for example, as its common knowledge. It wouldnt have told me what difficulties he or i would experience.

"I am aware that the earlier it is picked up, the better the outcome in terms of development etc?"

As you know from your dd's school that depends entirely on what others are prepared to do about it, not screening. If my ds was diagnosed with ASD in the womb, he still wouldnt be getting any more help that what he already gets. Its all red tape.

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