Would You Do It?

[Aimz]

I started a thread about this yesterday to seek some clarification. Now I have it - I would like to pose a question to all you lovely Bellybelly ladies.

My uncle suffers from a severe case of Muscular Distrophy. My dad is a carrier for X-linked resessive gene which means I have a 50% chance of also being a carrier. This means that females in our family cannot get Muscular Distrophy (our healthy X overrides the mutuated X), however we can pass the gene onto our sons who could in turn get the illness (we can pass on our mutuated X instead of our healthy X).

I brought it up with DH last night and asked him hypothetically what he would want to do should it be proven that I am a carrier for the gene. I explained to him the possibility of using gender selection and IVF and embryo screening. He said that without a doubt he would use gender selection for a girl as it would be selfish of us to risk passing it onto our son (knowing how horrible my uncle's quality of life is).

So my question is, would you mess with mother nature like that?

ETA: I am getting my doctor to order a blood test when I see him tonight so I will know within the next month if I am a carrier or not.

[LaDeeDa]

Amy,
thats a tricky one too answer....
from an ethical standpoint I would have to say no.... I don't believe in messing around with things like that.
BUT If I was in your situation and it was shown that you are a carrier and being that you obviously want to have a family I know myself well enough to probably say that I would do anything to be able to have that .....

Sorry thats probably not very helpful.....

[Kitt3n]

Amy - a friend of mine is going to use PGD as her hubby has a rare genetic conditions where they have a 50% chance of passing it on to any baby, if they concieve naturally.

I dont see this as "messing with mother nature" at all - I see it as them doing the best they can for their baby by ensuring that they do not pass on this condition.

Be aware though - it is costing them in the vicinity of $12 - $15 k. Hopefully that round of IVF works - if not, they will have to find the $$ all over again.

[Kailani]

Wow Amy, that's a really tough situation

I really don't know what I would do but just wanted to say good luck and I hope it works out for you.

If I found out I was a carrier...maybe I would just go for it and take the risk...is that selfish?? I don't know, it's so hard aww I really don't know, I'm sorry I'm no help!

All the best though, I'll be thinking of you!

[Aimz]

I am aware of the 12K cost but I am pretty sure it is covered by the medicare rebate like any other IVF procedure (based on the info I got from Sydney IVF). So our out of pocket expenses (after medicare and private health insurance) would range from $4K-$6K per round. The cost really wouldn't factor into my decision.

The other (and more heart wrenching) option is to terminate the pregnancy if a prenatal exam proves that we are carrying a boy. I honestly don't think I could live with myself for doing that.

But at the same time, I couldn't knowingly pass on this illness knowing how badly it has affected my uncle. He is 45 and will likely be in a wheelchair within five years. He is in constant pain and is unable to work. How could I knowingly set my son up for that kind of life?

The other aspect of it is, if I am a carrier, I have to face the reality that I will NEVER have a son.

[sushee]

If I was a carrier, I would opt for PGD and IVF. I don't see IVF as messing with mother nature (because that insinuates to me that IVF babies aren't 'natural' , and I'm sure you all know how I feel about that, as a mum to an IVF baby), but a way to prevent your child from unnecessary suffering. As a mum, I would do anything to protect my child from suffering, so wouldn't even hesitate to go down that route.

Yes, it's expensive, yet it's emotionally and physically painful, but better I suffer than my child suffer.

JMO.

ETA huge hugs to you, amy. It would be difficult to come to terms with, never being able to have a son if you wanted one. Hopefully you aren't a carrier afterall, but if the worse comes to pass, I'm here for a chat if you need me.

[Kailani]

Hmm, you know what, if I was a carrier I would almost 100% use IVF and gender selection. As you said about your uncle, it would be really awful to see your child go through that. I know it's not really any consolation, but you may never conceive a boy naturally anyway if you opted to take the risk and go for it the "traditional" way...

As Sushee said, I don't think it's messing with mother nature either - millions of bubbas wouldn't be here today without it!! So don't think of that as a negative in the situation, the only downside to being a carrier is knowing that you will not have a boy IMO.

Good luck and I'm sure you and your DH will make the right choice

[Aimz]

Just to clarify!!

I don't think IVF is messing with mother nature at all. It's choosing the sex of the baby that seems unnatural to me.

I would love to concieve naturally and hopefully this test will come back negative and I will be able to! But if I was found to be carrying a boy, both decisions would break my heart.

[AngelPunks]

We were going to utilise the gender selection option with our embies, to make sure we had a girl - because dh has ADD and is more prevalent in males (all 3 of his sons have it), because of my age we would have been at blast stage for implant & was being done anyway to check for other s3x related issues.

We'd also discussed the options if we found our child had any other issues identified during scans & I had said that we'd still go for late stage abortion if we had to at 20 weeks.

[Muppity]

If I was in your situation I would absolutely do everything I could not to pass it on.

Do you know if they can do PGD for muscular dystrophy which would mean that you didn't have to select gender - you could just ask for embryos that didn't carry the mutation - but I know that not all disorders can be tested for at such an early stage.

Fingers crossed that your blood tests come back that you don't have it and the it doesn't matter for you at all.

ETA - I just checked - MD seems to be one of the ones that they have developed a specific PGD test for so from my (somewhat limited) understanding wouldn't this mean that you didn't need to gender select as you could test the embies and just pick a good one regardless of sex?

[Tish]

Have you been to see a genetic counsellor? My partner has cystic fibrosis. With that both parents need to be a carrier (maybe different for other things) in order for there to be a chance of the child having CF. I was tested before we started IVF (which we needed to do because of male infertility caused by CF, not because of PGD), and I wasn't a carrier. This meant the PGD wasn't really necessary as they would only have been testing the embryo for the same variations they tested me for, and I'd already been ruled out.

Anyway, was just thinking a genetic counsellor might be able to give you more in depth info than a GP. Ours had lots and lots of information.

HTH

[HotI]

My uncle suffers from a severe case of Muscular Distrophy. My dad is a carrier for X-linked resessive gene which means I have a 50% chance of also being a carrier. This means that females in our family cannot get Muscular Distrophy (our healthy X overrides the mutuated X), however we can pass the gene onto our sons who could in turn get the illness (we can pass on our mutuated X instead of our healthy X).

ETA: I am getting my doctor to order a blood test when I see him tonight so I will know within the next month if I am a carrier or not.

Hi Amy

If your Dad is a carrier for the condition, this means that on his (one) X chromosome, the gene is impaired (has the mutation). Does your Dad have muscular dystrophy?

To get your DNA tested for the family mutation, the lab needs to know where on the gene the mutation is (ie they need your Uncle's genetic test results). You may have to attend a genetics clinic, so that they can get the info on the specific family mutation first so they can test your DNA.

There are options available to you if you find you are a carrier, and you might benefit from seeing a genetic counsellor who can explain all the options. Some of these options have already been mentioned by other BB women, but a genetic counsellor can explain which options are open to you with your particular family condition/mutation.

Take care,

kate

ETA: SNAP, Tish we were posting at the same time.

[Aimz]

Sushee - I think I am on the same wavelength, as in I don't believe it goes against the laws of mother nature IF I am doing everything in my power to not have a sick child. So in this case it would be in everyone's best interest if we did do gender selection.

punkin - Thanks for sharing your story. I think we too would terminate if it came to that - but I'm not sure if I could knowingly set myself up for it.

Muppity - They can test the embryo for MD but it hasn't been 100% proven that the male child still will not have the illness. It's a significantly reduced chance but there is still a possibility. DH and I both want a daughter anyway, so this wouldn't be a problem for us - however, I still feel a bit weird about choosing a girl from day one. Really takes the surprise out of the pregnancy IMO. And as I said earlier, I would need to come to terms with the fact I will never have a son.

Tish - My uncle has been working with genetic counsellors for the past 12 months to determine the particular strain. He emailed me to urge me to get tested before we have children - which is exactly what I'll be doing. With MD, only the mother needs to be a carrier for the male child to get the illness.

Kate - My dad is a carrier, however he does not have the illness. My other uncle is also a carrier, but he doesn't have the illness either. This is not to say that they won't get it when they are 70 or 80. There will always be a chance as they carry the gene. My Dad's youngest brother is the only one who has the illness in its severe stages. If it is proven that I am a carrier, the next step will be to see a genetic counsellor and discuss our options from there.

Candice - Knowing what we know now, I will need to take extra care with my pill and make sure I am taking it correctly 100% of the time. We haven't fallen pregnant yet, despite me being pretty relaxed when it comes to taking my pill (sometimes I forget and miss 3 days!). I don't think we've really thought about an oopsie baby. It's probably something we need to discuss.

[HotI]

Kate - My dad is a carrier, however he does not have the illness. My other uncle is also a carrier, but he doesn't have the illness either. This is not to say that they won't get it when they are 70 or 80. There will always be a chance as they carry the gene. My Dad's youngest brother is the only one who has the illness in its severe stages. If it is proven that I am a carrier, the next step will be to see a genetic counsellor and discuss our options from there.

That can be a more difficult situation to be in. If a mutation is fully penetrant (if a male has the mutation, he will be affected) the decision is more clear. But when a mutation is not fully penetrant (like in your case), there are a lot more things to think about.

Your uncle is a great man for pushing ahead for testing, so that you have information that you can use to decide about your kids.

Just one more thing, some genetic tests can't be ordered by GPs and so you may have to see a genetic counsellor before having the test done. I'm just letting you know in case this happens.

Good luck,

kate

[Aimz]

Your uncle is a great man for pushing ahead for testing, so that you have information that you can use to decide about your kids.

Good luck,

kate

He has his daughters to think about too. He is wonderful for doing this and I'm glad I am aware of it now and not in 10 years when I have three boys running around and I'm heartbroken for them. He didn't even know he had the illness until he was 30.

Lisa - If only it was as simple as just removing a bad gene huh? My DH is colour blind so I know how horrible it can be - especially when he was a kid and couldn't distinguish between red and blue crayons .

Suse - Thank you, you are a sweet heart .

[Lisa]

I would do it.
I am a carrier for colour deficiency in my boys... it may not seem terrible to some, but my eldest DS can hardly see any colour, and that is so so so sad. I wish there were ways to have that stupid bit of DNA removed or altered.

[~Raven~]

Amy I would have IVF and genetic testing if I were in your situation. Without a doubt.

[Pretty Butterfly]

I would do it without a doubt too.

Although Kane doesn't have anything near like your talking about, I would of done ANYTHING and spent ANY AMOUNT to have him not going through all these surgeries, having hearing difficulties, speech difficulties, and permanent scarring. He also has years of dental work to look forward to, and a hip bone scraping.

If something could of been done beforehand, It would of been my top priority.

I couldn't imagine watching your child go through something like your uncle, if you knew you could of prevented it....

Good luck hon, and I pray all is good with your testing!!!!