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Genetics
Hi Ladies
My little girl was born in May wiht Left Isomerism - a heart condition that affects may of her other organs. She had major surgery in Dec but on a daily basis is very well (at the moment) and to look at you wouldn't know of her compelxities as it were.
My question is that we have had conficitng info as to if this is genetic or not. We are told not but have then been referreed to a genetisist?! I also know of another lady wiht a gil wiht the same condition who has been told it is genetic.
Anyway.... my actual question is, do any of you have babies wiht genetic condions, and have you gone onto have other unaffected children?
Any advcie would be greatly appeaciated
Thks
My little girl was born in May wiht Left Isomerism - a heart condition that affects may of her other organs. She had major surgery in Dec but on a daily basis is very well (at the moment) and to look at you wouldn't know of her compelxities as it were.
My question is that we have had conficitng info as to if this is genetic or not. We are told not but have then been referreed to a genetisist?! I also know of another lady wiht a gil wiht the same condition who has been told it is genetic.
Anyway.... my actual question is, do any of you have babies wiht genetic condions, and have you gone onto have other unaffected children?
Any advcie would be greatly appeaciated
Thks
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Replies
When you see the genetics team they'll give you what they often call genetics councelling which gives you an idea of what they mean when they say how things can be passed on. Having a genetic condition doesn't always mean you've received it from your parents as it can sometimes be sporadic however once you have a genetic condition you may then pass it to your own children.
there are a few ways genetic conditions can be inherited, i don't know how I inherited my condition yet however it is likely to be autosominal recessive (passed from parents although they would only be carriers with 25% / 1 in 4 chance of passing it to children) or sporadic which just means i got it by chance.
but because I have the condition i would pass this on as a autosominal dominent which carries 50/50 chance of passing it on which is what has happened to my son, so he will also have 50/50 for passing it on to his children.
this is what they've said to us for our condition so I don't know how much of that would relate but I've only had a few appointments and they've been able to make me understand this much
it's all a bit confusing when you first go into it all but the genetics team are well aware of how mind boggling it can be and they are very good. Where about are you? we are in Wirral so we have Alder Hey childrens hospital and they are really very good.
Just seen this. My lo has cystic fibrosis which is genetic. Turns out hubby and i are both carriers although there is no history of cf in either family. there was no way we could have known. If we have another baby we have a 1 in 4 chance of passing it on again and a 50/50 chance of that child being a carrier. We have a meeting with genetic counsellors at the end of the month. If you want to chat feel free to email xx
Sorry I didn't see these replies! We are in Berks but under care at John Radcliffe Oxford mainly. We are waiting for our genetics appt (referred 31.12!!). We are being told by some people that Avas conditoon is pure chance, and by others that is genetic so 1 in 4 chance. How did your genetics appt go legalbeadle? this is so stressful isn't it? x
It went really well. We are being referred for PGD which is a form of ivf to try and have a sibling for G. It's got quite a low sucess rate but it's the only way we can guarantee not passing cf on again. The other options are prenatal which don't suit us.
I found the experience very positive although I did a lot of research before I went. I've developed a fear of healthcare professional and like to be armed with info in advance!!
The fact you are being referred to genetics in the first place sounds as though Ava's (beautiful name by the way) condition is genetic but that is just speculation on my part! If it is genetic they will run through all your options should you choose to have another baby. If you ever want to chat or just blow off steam please email.
Despite cf being the mos common genetic disease in the UK and 3 babies being born everyday in the Uk with it I have yet to come across anyone on this board with a child with cf. There are other forums but this one is fun!!
Hope Ava is well xx
I know what you mean about being armed wiht info - we see soooo many dr's now that i like to know things for myself so i don't get lost!
I thought that re the genetics but her pead told us it wasn't genetic and then when i started q;ing it (from my own research) he said well lets refer you so they can plot your family tree - its seems they just don't know. Its a 1 in 250,000 chance condition to start wiht and apparently there is not much research done on it due to rareness
Ava is doing very welll thanks, hope G is too x
The other prenatal option is what is called CVS. At 11 weeks pregnant cells are taken from the placenta and tested. They can tell from his if the baby has cf, is cf free or a carrier. You woudl then have to decide if you wanted to continue or terminate. It's not an option for us hence the PGD route!
If it's a 1in 250,000 chance then the "risk" of simply having another baby is minimal. My risk in 1 in 4... so not good odds and not one I'm prepared to take!
I'd def chase your appointment but it certainly sounds like yo are in a much better situation reagrding extending your family than I am. If I can help in any way please ask xx
Sorry - the risk is 1 in 250,000 of it happening to anyone in the first place, but once you have a baby with the condition (like us) the risk increases to 1 in 4 (according to those dr's who believe it to be genetic). The prob is, that due to the rareness of the condition to start with, the reseach just hasn't been done yet as to if it is def genetic and some tell us it is and some say not.
The prob is if PGD isn't an option for us I'm not sure where we go from there. I hadn't thought about CVS - Thts something I will have to ask. Gosh, I never imagined I would be facing these sort of dilamea!! x x
[Modified by: mel7 on March 03, 2010 09:05 AM]
That's not great is it
Hope you are okay. Its taken me a while to stop feeling so angry about it all.
It does make you angry doesn't it? I thought the health problems with Ava were a lot to deal wiht - now this on top hardly seems fair - boo!! Well we have further from them today and they are still unsure - we are having bloods done next week to find out some more but 3 - 4 months for results. There is still a slim chance that its a new genetic mutation whcih would be best case for us as hopefully would never happen again but worst case for ava re having kids of her own. Now - what do you wish for?!?! so confusing. It looks like they think 1 in 4 but aren't even sure they would be able to put a number on it due to its rareity as they may get it totally wrong. It seems like they just don't ahve enough info. We have been offered cvs and amnio if we go ahead again but so worried that if they can't even put a definate figure on it, if its a risk we should take or not - soo confused
Not sure what effect a duplicated gene has on you having more kids? Our is a defective gene. Hubby and I are fine as we have one knackered gene and one normal one but lo has both defective ones.
It's good you now know. What kind of impact is that going to have?
[Modified by: mel7 on October 09, 2010 03:47 PM]
Hope Ava is doing well xx
PGD isn't an option for us as they still haven't defined if the chromosome issue they have found is definalty linked or not but think we are just going to take the wait and see approach and go for it. I am well and Ava is well - despite her compications so that has reassured us a bit.
The odds they have given us now are so so much better than initally thought so am starting to feel a bit better about it all.... for now! xx