Genetic disease testing, nothing's certain...

[CLSMammy]

I know this is controversial and I'd rather people who are against me don't comment as it's already very upsetting. I'm very early stages (4+2). I am a carrier of haemophilia which is a genetic bleeding disorder which only affects males. We have gone through genetic counselling and have decided to get a gender blood test at 7 weeks and then decide from there if it is a boy. I want this baby so much and want to be excited but I know nothing is certain. I don't want to book my booking appointment as I might not even need it and I don't think I'll be able to face cancelling it. I also know that miscarriage is still very possible at this early stage, so many people don't get excited about things yet. My problem is that I really am excited but so anxious at the same time. I have an amazing family and husband but I still feel very alone and would love some support.

I just wanted to say I'm sorry you have this extra layer of challenge. I know haemophilia is a big deal (though severity can vary) and I don't envy the situation at all.

One day at a time. Breathe.

Are you saying that if it is a boy, you might have to make the decision to terminate the pregnancy?
What an awful and difficult choice that is for you to have to make.
I don’t know alot about the condition I’m afraid.
Just sending some hopeful thoughts and support your way x x

Sorry to hear the situation. Is it certain a boy would have the disease because you carry it?

I believe the outcomes are now very good for boys. A friend has a teenager and believes that they will find a cure one day. Big hugs though. Not easy x

I am sorry you are going through this you are in a terrible position.

I found out I have a 50/50 chance of a very serious genetic disease last year I already have two children who are now at risk.

I absolutely would if I had the opportunity before they were born to eliminate the chance of them having this through the ivf process. I would also absolutely not be without them. As a parent you want to keep your children safe from harm. I don't think anyone can decide and certainly not judge you for how you proceed. I met a lady through a support group who back before this was possible had to terminate several pregnancies who had inherited the bad gene and my heart went out to her she had a much wanted adult daughter now free of the disease.

Best of luck to you whatever you decide x

Best of luck to you

Thank you all for the support. I carry severe haemophilia and have seen first hand how disabling it can be and how much it can impact quality of life. We would be in the awful predicament of terminating or getting cvs at 11 weeks to test for the gene. It's a horrendous strain unfortunately along side the fear of miscarrying before any of it becomes a problem!
@sparkleeyes your post is lovely and I understand exactly what you mean that you wouldn't change your children but would have also rather known. I wonder if there are any support groups near me

Hi OP, I am in the exact same position. I am 9 weeks. I have a genetic disorder called Incontinentia Pigmenti which is fatal to boys if passed on. A girl can survive. It's a 50/50 chance I will pass it on.

My advice is book in to see a GP as soon as you can. They will arrange for an early dating scan so that they can carry out the testing, if you decide to go ahead, within the right timeframe.

I went to see the genetic counsellors yesterday and they were great, but it's now changed our minds completely from what we wanted to do.

If we want CVS, they need to do it in the next fortnight but given the lateness of me being referred to them, they now only have two weeks to take my blood to test for the strain of the defect I have to know what to look for in baby. They said it's likely the bloods won't come back in time, so I'll miss the cut off for CVS. The next option is an amnio but I have to wait til 15 weeks for that.

However, what they explained yesterday was that they all come with a risk of miscarriage. They have performed the CVS tests, results on baby have come back perfectly healthy but mum has miscarried due to the test. On top of me already having a high risk of miscarriage, this just adds to it.

We had the gender blood test yesterday and if it comes back male, we'll make our final decision, but we almost agreed yesterday that we will not do a CVS because of the risk, and that if a miscarriage will happen, it should happen on its own.

I hope you're okay, OP. These past few weeks have been really tough mentally, so I know exactly how you must feel. Xx

@TokenGinger I'm so sorry you're going through this. We saw a genetic counseller before we started trying to get pregnant so we would be more prepared, although that definitely hasn't prepared us. I'm a doctor myself and know from working and from my counselling that CVS has a really tiny risk of miscarriage, and although everyone judges risk differently, I wouldn't let the risk put me off. I really hope yours and my gender test come back as a girl! It's an awful time and it's good to know, although heartbreaking, that I'm not alone in this. I've almost convinced myself that mine is a girl, but I don't know if that will make things worse if it comes back the other way. We had originally decided to terminate if it is a boy so we're terminating at 7weeks instead of waiting until 11/12 weeks for the CVS when it would be much harder mentally. I'm not sure now how we'll feel if it is a boy, and what our decision will be. I already feel so invested in this baby and I've only known for 3 days. I am sending all my love and hope to you x

Totally get this I'm a genetic carrier for a rare genetic disease (my oldest son has it and is severely disabled) 1 in 4 chance of reoccurring in each pregnancy.

I have had 3 pregnancys since he was born and chose not to 'book in' untill i new baby was healthy instead i waited to see genetic consuler and wait for cvs. We have been very fortunate and all my other pregnancys have been unaffected. If they we're effected we already knew we would TFMR which was so hard letting your baby grow, feeling sick i found it so hard.

Thinking of you and you do whatever you geel comfortable with. If you google genetic carriers baby centre a group will come up and it is specifically for support when you carry a genetic condtion made me feel not so alone. Xx

Hi @CLSMammy, how are you doing?

Thank you for the well wishes. Fingers crossed for us both. It's such a hard decision to make, but it's our decision alone and I really hope nobody makes poor judgements about it.

Hi @TokenGinger. The decision seems to have been taken out of my hands. I started bleeding 2 days ago and seem to be having a normal period which I assume is a miscarriage. I'm devastated and have been to the GP to get serial hcg levels done so will know by Friday. My only hope is that this was the one that I would have had to make an awful decision about and that next time it'll be a girl.

Now all of my hope goes to you and I don't have to save some for me. Please let me know how things go as I'm going to need the support next time around and you have certainly given me that.

@LBNM19 Sorry I didn't see your post. I think I stopped following my own thread when I started bleeding. Thank you for the support anyway. I'm sure I'll need it again next time I fall pregnant.

@CLSMammy, that just genuinely reduced me to tears. Very emotional today after finding out we have a little baby boy growing. Genuinely don't know what to do. I am so, so sorry for you. My heart is broken for you

@TokenGinger now I'm crying for you. Whatever you do, think of yourself. This is your decision to make and no one elses. I don't want to tell you what I would do because I don't want to force that on you, but if you want to know I'll tell you. It's so painful to go through what you are going through and I want you to know that even though I'm not in the club now, I still understand. You are strong and amazing.

My genetics counseller told me that CVS has a less than 1% risk of miscarriage. I looked at some data myself (the doctor in me made me research the evidence) and studies since 2000 showed a 0.2% risk. It's still an awful decision but best to be loaded with the facts.

I know you must feel very lonely right now but I'm here for you x

@CLSMammy Thank you so much for being so lovely.

The genetic condition I have means that the risk of baby having it drops dramatically at 12 weeks, so if I am still carrying at 12 weeks, there's a low risk baby has the condition. There are some instances though where women have carried to full term and baby has been stillborn.

I'm going to be too late for CVS testing, because they've had to send my blood off for testing to see exactly which gene is defected so they know what to look for in baby, so the only choice I have now is amnio at 15 weeks. DP is reluctant to test and thinks we should let nature take its course. My mum had two healthy boys so I know it's possible. It's just hard to sit here knowing I have no control over this little one's pain.

I'm so sorry you're going through this. I have everything crossed for you that your baby is healthy and carries to term if that is the decision you decide.

I always had it in my head that if we found out it was a boy we would TFMR then to avoid having to make the decision when it was more developed and further along. I thought that would make it hurt less, and maybe it would, but I know now just how invested I was emotionally after knowing for only 5 days so either way it would be heartbreaking.

I think we feel there is a lot of stigma and tabboo attached to our decisions and it's hard to find the right people to talk to. It feels very lonely and so painful.

I suppose if I've learnt anything from this miscarriage it's that the decision is going to tear me apart if I have to make it. But I hope it has made me stronger and more prepared for it.

There is a lot of stigma and it's unfair.

I can't even imagine what you're going through now. I imagine making that decision is heartbreaking. I don't think we can make that decision. I think it'll be a case of letting nature make the decision for us.

Sending you so much love ❤️

@CLSMammy
Sorry to hear about the mc.
I'm also a doctor with an AD genetic condition. We were offered PIGD but declined. Is similar available in your area? It would take away you having to make such a difficult decision.
Happy to chat.

Yes we were offered that. I don't really want to go through IVF, and you only get one child funded on NHS. I'd be happy to pay myself but don't want the stress of IVF. I am keeping my options open if I don't think I can handle multiple terminations.

@TokenGinger. How are you doing? I'm pretty sure I've just gotten another BFP today and it made me think of you again. Hoping everything is ok x

Hello @CLSDoc! Congratulations on your (hopefully) BFP. I hope this time around is a blessing for you.

I'm doing good, thank you. And thank you for thinking of me 💜 I am now 17w2d. We've had a lot of scans and care from the obstetrician. They finally got the bloods back and found out what deletion of the gene I have. When they found that, they were able to say that in all of their medical research, a woman with the deletion I have, has not managed to carry past 12 weeks if she has passed on the condition. Whilst they cannot say with 100% certainty that he doesn't have it, as he was still with us at the 16 week scan last week, they're feeling positive that he's going to be just fine. Here's hoping xx

@TokenGinger. I am soooo happy to hear that! I've done 2 tests now and although very very faint, there is definitely a line on both! I so hope my pregnancy is as lucky as yours! Keep in touch!

Definitely keep in touch. I'll be thinking of you and keeping my fingers crossed for a happy, healthy baby 💜 xxx

Another CP for me, negative tests today. So angry at my body, but again hoping that it is taking the bad decision out of my hands and naturally aborting haemophiliac babies.

I'm so sorry I hope that's the case for you, too xx