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CVS for haemophilia

10 replies

HaresHoping · 02/03/2022 07:52

Hi all,

Before I start I want to say that my intention is absolutely not to upset anyone, and I'm also feeling quite fragile so please go easy on me.

I am a carrier of severe haemophilia A. My husband and I discussed at length what we would do if we became pregnant with a boy with haemophilia, and had pre-conception counselling too so we knew all the facts. We decided that we would not continue the pregnancy if that were the case. This is due to having witnessed other members of our families living with chronic health conditions that have made their lives really hard. We know that treatments have improved for some, but there are no guarantees that they work for all and we don't want our child to suffer.

Last year we had two chemical pregnancies which were really tough, then right at the end of the year found out we were pregnant. While we were pleased that the lines were stronger, we've still been pretty anxious due to the odds of having a boy with haemophilia coupled with the previous miscarriages.

We found out that we are having a boy. Our odds have now increased to 50/50 that we could have a child with haemophilia and waiting to find out is agony.

I am now 13 weeks and we went this week for a CVS, however they were unable to perform the test due to the position of my uterus. I am to go back next week so they can try again but they were clear there is no guarantee it will work. The next option is an amniocentesis test at 15 weeks.

The doctor also said that the results could take 4-5 weeks to come back. We were initially told by several doctors it would be 2 weeks. I'm hoping she is wrong (she's going to check with the lab) but it sent us reeling.

We have a real possibility of not knowing whether we will be keeping this (much longed for) baby for pretty much the first half of the pregnancy.

I would appreciate hearing from people who have been in similar situations and understanding how you coped with a situation like this. I am considering asking to reduce my hours at work for a little bit as am really struggling to focus and find time to look after myself. Have others found this helpful? What about exercise and meditation etc? Any tips would be so gratefully received.

Thank you.

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superstrongmom · 06/03/2022 18:46

Hi Hareshoping

I’m so sorry to hear what you are going through and I understand the turmoil and I know you just can’t stop thinking about this.

As far as I know baseline amnio results take up to a week at most but the more complicated analysis will likely be much longer possibly up to 3-4 weeks.

You need to listen to yourself and take time. Don’t feel guilty for thinking about termination.

Can you phone BPAS?

I just read your thread as I am too a carrier of haemaphilia mild.
I never found out about it until after I had kids. I have one boy and he didn’t inherit the gene. My sis has a child with mild haemophilia. It really did bother her, she never knew about this until he was maybe one.
I know the mild haemaphila is nothing bloke severe but I do understand a little bit of how you are feeling.

Don’t feel bad, I think you should wait for results regardless of 4 weeks as you never know your little boy could inherit dad’s genotype. Another 4 weeks will be hard but I think it’s worth it to help make a decision regarding the future.
Try pregnancy yoga and there are some free mindful meditation apps that I think are good.

Go easy on yourself 😊

HaresHoping · 08/03/2022 17:38

Hi @superstrongmom, thanks for your reply and hope you're okay. How are you feeling about everything?

Yes we're definitely waiting for results, no question about that - I was meaning more around how people cope while waiting as it's such a long time. We couldn't do the CVS test again today so have to wait for an amnio next week. Results from that can take around 4-5 weeks as they have to grow the cells.

I think your suggestion of yoga is a good one. What is BPAS?

Sorry to hear you are in a similar position, it must have come as a shock to you and your sister if you weren't aware you were carriers before.

Good luck and hope all goes well for you xxx

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Banoffeepie91 · 19/03/2022 06:07

I’m so sorry you’re having to wait so long. Have you tried contacting the charity ARC? They have a lot of experience in tests like this during pregnancy and that choices parents have to make. I had to have a CVS with my son due to multiple fetal abnormalities. Unfortunately things didn’t turn out well but ARC were with me every step of the way and still are now.

HaresHoping · 19/03/2022 07:48

Hi @Banoffeepie91 thank you so much for your message and I am so, so sorry to hear about your tough experience and your loss. It must have been heartbreaking for you.

We weren't able to get a CVS sample in the end but we managed a successful amnio this week which is great, at least we can hopefully start to look forward to getting some results now, assuming that the sample they took had enough of the right kind of cells.

I have heard of ARC but not made any contact yet. It's good to hear that they have been so helpful for you ♥️ I have read some of their resources online and found them very helpful. Thanks for the recommendation - I will certainly keep them in mind and reach out.

Thank you again and best of luck to you, hope you are coping as well as can be expected, and again I'm so very sorry for your loss xxx

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Banoffeepie91 · 19/03/2022 09:37

Thank you for your kind words. My loss was in July last year so time has helped a bit, I
miss my son every day though.
I really hope you get your results soon and you get the news you want. All of this stuff is soo scary and stressful so I really know how you are feeling right now.
Please keep me posted on how everything goes.
Sending you lots of positive thoughts! Xx

HaresHoping · 19/03/2022 11:08

Thank you @Banoffeepie91 that means a lot 💕 xxx

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HaresHoping · 30/03/2022 14:19

Hi @Banoffeepie91 - I hope you're ok?

I just wanted to let you know that we had some great news this morning - baby is okay. We are overwhelmed and in shock but so relieved.

I wanted to say a huge thank you to you for your kindness when I was feeling extremely vulnerable and frightened ♥️

Hope you have a lovely rest of your week xxx

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PennyRoyal · 30/03/2022 14:34

Fantastic news @HaresHoping
Hopefully you can now relax and really enjoy your pregnancy. Thanks

Banoffeepie91 · 30/03/2022 15:38

@HaresHoping this is amazing news! I’m so pleased. It much be such a relief but I know the wait must have been awful.
Wishing you all the best for the rest of your pregnancy. Xx

HaresHoping · 31/03/2022 04:47

Thank you both so much! There is lots to process but we are just totally overjoyed. I can't quite believe it! X

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