Haemophilia/conception info?

[bouschka]

I am possibly a carrier for haemophilia (http://en.wikipedia.org/wiki/Haemophilia) which (if true) means I have a 50% chance of passing this to my male babies (sits on X chromosome). I'm interested to know if anyone else has been positively tested for this & what type of conception they route they took...

*Conceive naturally & test foetus once pregnant?
*Genetic testing
*GT then IVF (not sure if this is another option)

My brother is a haemophiliac as was my uncle. My mother is a carrier as was her mother.

Any info anyone who has been down this road can offer is appreciated :)

Simone

[Ana Gram]

With me, they put me on the high risk track pregnancy. All my uncles and my borther has it. Obviously my mother is a carrier and I show symptoms of being a carrier as well. Like easy bruising and taking a long time to clot.

We went through genetic counselling and was offered an abortion at every turn. I can't remember if they were going to test me or the foetus, I have a feeling it was me and it was well over $1000.
Way too much and we certainly couldn't afford it. So they left it till we could find out the sex and were going to go from there (ie offer an abortion again).
I had a girl, so no more was said about it. I would have still had the baby if she turned out to be a boy. I conceived naturally and decided that the risks of testing the foetus were too great.

[bouschka]

With me, they put me on the high risk track pregnancy. All my uncles and my borther has it. Obviously my mother is a carrier and I show symptoms of being a carrier as well. Like easy bruising and taking a long time to clot.

I didn't know that symptoms of a carrier were easy bruising. I bruise quite colourfully, but never thought I was any more prone to it than others. Just clumsier :o. (my blog has a corker bruise pic on there from last week).

I don't have any problems (that I've noticed) with stopping bleeding/clotting myself either.

My brother has been going to the haemo centre @ RPA hospital in Sydney his whole life so I'll be going there as well for all my testing & consultation. He & his wife just had a baby boy this Feb (IVF I think) which seemed a pretty simple process. I don't know the cost however. He did mention that there are incentives from the government to minimise the incidence of the disease occurring now. If I find out more I'll pass it on :).

I'm hoping I turn out not to be a carrier (but the signs aren't good) so I can just jump my man the old fashioned way :D. I'm not at all keen on the idea of an amniocentisis or CVS.

Thanks, I really appreciate your reply.

[Ana Gram]

What sort of incentives??

I have heard of haemophilliacs getting liver transplants and not having haemophillia anymore.

The bruising and bleeding thing for carriers is something medical professionals don't actually tell you but every carrier I have spoken to and known have all had it in common.

[bouschka]

What sort of incentives??

I have heard of haemophilliacs getting liver transplants and not having haemophillia anymore.

The bruising and bleeding thing for carriers is something medical professionals don't actually tell you but every carrier I have spoken to and known have all had it in common.

From what I understood it might have been some sort of rebate for getting the genetic testing / counselling done. Maybe a rebate for the invitro too :confused:, I'll be sure to ask when I go. Basically I think it was $$ assistance in preventing the occurrence of the disease in new babies - ie selectively breeding the disease out.

Never heard of the liver transplant thing. Seems strange as it's genetic & not organ specific - but then I'm just starting the research myself. I'll keep that in mind.

Are you planning on trying again for another baby?

[Ana Gram]

I immeadiately thought that the idea would be to breed it out, which I find horrifing! The only way they can do that is to stop all carriers and haemophiliacs having any children. Well no the haemophilliacs can have boys, but still.

Well, actually it's the liver that is pretty much the cause. Rather than being a blood problem it is a liver problem. The liver is where it starts the problem as it makes the coagulation factors for the blood. The haemophillia gene means it can't make factor 8 or 9 depending on if it's A or B.
They have had some interesting findings, google liver transplant + haemophillia and there is heaps to read.

No more children for me, hated pregnancy and labour. Never want to do that again!

[bouschka]

Ok, wish me luck.

I'm off to RPA on Friday the 10th for the genetic counselling. I'll give some blood there too, then a few days later my brother will drop off a sample of his. They'll be able to tell me in a few days (week?) if I'm a carrier or not.

I'm starting to get nervous.

Fervently hoping that I'm not so we can just get on with it, but have that sinking feeling that I know I will be. :fingerscrossed: ok ?

[Ana Gram]

Good luck, although I am sure you know that it isn't the end of the world if you are a carrier.

[bouschka]

Good luck, although I am sure you know that it isn't the end of the world if you are a carrier.

Thanks. Yeah I do, there are a bazillion things that would be worse than this.

[bouschka]

Well, they told me when i went for the genetics counselling appt that it would take up to 4 months to get both results back (mine & my brothers). But they called me on Monday with them.

Turns out I am a carrier, just as I expected. Don't feel any different now that it's confirmed, as I was preparing myself for a positive result.

My fiance & I are planning on conceiving naturally (if we even can) then having test done at 10 weeks. It's a 1 in 4 chance, so we'll go that route the first time & see what happens.

Thanks for letting me share! :)

[Ana Gram]

Good luck with conceiving! Hope it all works out for you and just remember that haemophiliacs can live a long and fulfilling life :)

[sarz82]

hi
im a carrier for haemophillia and i have two son that have it, did they tell you that is costs around 1000 to test the baby before its born?
i chose not to test as i would not have done anything about it, yes its hard having two boys with it, last year my son spent around 60 days in hospital, thats not including the trips for appointments, and emerg visits. there are times where i dont even get to work as of my kids, but i would not have changed anything, it gets tough but i deal with it.
my next child will be through ivf though,
it may be a 1 in 4 chance but i got 2 beautiful boys that have it.
if you can afford it id go through ivf its not that much more then the 1000 dollar test.
sarah