NIPT positive for DS. What next?

[Spink]

We had a phone call this afternoon to confirm a positive test result (99% probability of downs).

I called my NHS midwife & she said she'd pass a msg to the screening midwife, who'll call me prob tomorrow or Weds. We have our NHS 12 week scan on Weds.

We think we want to have this baby, but I'm scared & don't know how to start to get my head around it all.
We've got 2 dc, ds is 10, dd is 8. Both v excited about having a new sib. We haven't told them about the test results yet.

I'm 13+4. Our baby is a girl :)

[Spink]

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[Ikeameatballs]

Have you looked on the Downs Syndrome Association website? It will have positive stories as well as giving information on some of the challenges that might lie ahead.

Good luck on your journey.

[ACloudyDay]

Hi Spink, I have a 4 year old DD with Down's syndrome. I can try to answer any questions you have. It's a huge shock, I know, we only found out when DD was born. Take care xx

[Spink]

Thank you.
I'll have a look at the website. I've been googling but not really taking much in so far. I don't know what I need to know yet, if that makes sense.
Maybe I need to slow down & deal with what needs to happen today & tomorrow- I'm guessing we'll be recommended more tests?

My parents are visiting us & are so sad about it. They are asking if we should go ahead with having our baby, & are worried about how it'll be for our dcs.

And I'm dreading our scan tomorrow, I think I'll just cry, though I feel like I shouldn't.

I feel confused and overwhelmed.

[MrsT2007]

I've been there, we opted for tfmr as baby had a number of other issues inc bowel and heart problems. Obstetrician was pretty sure he was not likely to make term.

We had the option to continue but our choice was made not by the now or immediate future, but by the 'when we're gone' scenario of leaving baby's elder sibling as career and whether we could or should add that responsibility.

For us, we didn't want to. But you may want to choose a different path to suit your family.

Can recommend ARC to talk to. Hugs xxxx

[Spink]

Thanks Mrs T. How quickly did you have the tests that showed up the heart & bowel?

I've read that 40% of downs pregnancies miscarry in the 2nd trim, 50% in the first but we're past that now. I'd just started to relax, thinking we'd come out of the tricky bit of pg. I'm 40 so we had the NIPT as I knew my risks would be higher, but I wasn't prepared for this.

[MrsT2007]

When our results suggested high chances we had a really detailed scan at the QE in Birmingham and that showed up the issues at same time as they were doing the test. We were prepared for the result as all the scan evidence pointed to serious issues, from heart to shorter leg bones etc which meant the actual test results weren't a shock TBH.

[Meffy]

Op ... I'm a mummy to DS 7 with severe disabilities. I rare gene mutation not dx until he was nearly 6 and DS 9 with ADHD and High functioning autism. We also have NT Dd5.

My advice is find an Opportunity Group with other parents with disabilities. My DS7 goes to a special school and we have lots of friends who have children with DS. Again it's a spectrum.
My kids love their DS very very much and so does everyone else he comes into contact with.
All children are a blessing in my opinion. My friends son with DS had heart issues but operations at birth sorted it all out! He also wears leg splints as has contracture but again his splints are correcting that!
Good luck with the scan ... I have no doubt both you and DC will fall in love immediately!!!

[Meffy]

...... can I also say that at 37 weeks a consultant suggested than my friend terminated her pregnancy as DC only had half a brain and wouldn't survive. DC is a wonderful 13 year old with a full brain!!! He has cerebral palsy but can talk and has a great personality.
Dr's are human too and make mistakes!

[Spink]

meffy & MrsT thank you.

We've got the CVS booked at Kings College Hospital in London tomorrow, & im hoping they'll be able to give us more information about whether there are already apparent health probs as we are already clear about the diagnosis. More about feeling prepared than anything else..

I'm feeling better today, our little baby girl was moving around loads during the scan we had this morning, it was lovely to see her. And we told our dd & ds that I am growing a sister, and that she has Downs. Ds' good friend at school has DS so he wasn't fazed at all, though we did say we need to be prepared for her to be poorly & possibly needing more help than ds' friend. Kids are better than adults at just taking things in their stride, fewer preconceptions about what's 'supposed' to happen I guess.

So. I am getting waves of worry and tearfulness but right now also feel excited about the small acrobat in my belly...

[Meffy]

Spink be excited for your acrobat!!!!
We have spent lots of time in hospital with my DS and sometimes he is a real challenge but then I just take one look at his beautiful face and realise how lucky I am!
I've met some wonderful REAL friends who have offered love and support and even friends who don't had children with SN.
Please be prepared for fair weather friends to just up and leave ... you'll soon start to realise who actually gives a shit.i found this more cathartic than upsetting as I like to trust people ... sad world if you can't!!!
Well I got one can not wait to see your DD... please keep in touch !!!

[Spink]

It was lovely to see your post Meffy, thank you.

The CVS was pretty grim yesterday, they were running late so we waited for 3 hrs before going in- that was ok, we'd been warned so had food & books, but it turns out it's a long time to be tense for. And then the first clinician couldn't get a good position with the needle (posterior low placenta) so the consultant had to go in again. I look like I've been bitten by a vampire ;) And it bloody hurt! But the heart looks ok, the only notable bits on the scan were absence of nasal bone & echogenic bowel which they said are both markers of DS but not worrying beyond that.

Now though I'm leaking amniotic fluid so have been told to rest up & contact the EPU if it hasn't stopped by tomorrow morning.

I really don't want to lose my little girl. As scared as I am about what difficulties she may have, I want to meet her v much.

[KittyandTeal]

I just wanted to say the whole testing process is really tough and emotionally exhausting.

It sounds like you've made your decision which is great. The charity arc are great for someone to talk to, they may be able to help suggest what, if any, additional scans etc you may want to request.

Rest up and be kind to yourself.

[Spink]

Thanks Kitty x
I guess we have made our decision... & there is a little measure of relief now I don't need to keep weighing it all up and trying to work out what is 'right'. We are still so scared about what the future holds. And who knows what the next scans might show that could throw it all back up in the air again.

Thanks for the advice about ARC. Kings said they'd want to see us for the 20 wk scan as they'd have a cardiologist look at it. And then that our local hospital would prob do additional growth scans. At the moment I'm heartily sick of scans & tests.

I'm still leaking fluid though so unless it stops overnight I wonder if EPU would want to do one.
No point thinking about it. Thanks again lovely lady & night x

[KittyandTeal]

Yes, I remember before we got dd2s lethal diagnosis they were talking about cardiac scans, feral mri's and all sorts. It was very overwhelming. It's tough when you realise you potentially have a very poorly baby.

I guess they will be able to tell you more closer to 20 weeks. It's horrid waiting though which is why talking sometimes helps, especially to people who know and have been through the process.

Fingers crossed the fluid leak stops quickly.

[WipsGlitter]

spink hope all is well. I have a son with DS if you have any questions.

[Spink]

Hi Wips,
We're feeling pretty good - thank you :), have linked in to the local DS support group & feeling really excited about our baby again rather than worried & frightened. We've got a cardiac scan this Thurs so fingers crossed for that.

Every now & again I get a wave of anxiety but am reminding myself that though we can do some stuff to help prepare, we can't predict the future & just need to take everything step by step.

How old is your ds? It would be great to hear how it's all been for you x

[WipsGlitter]

He's now 7!! We had a post natal diagnosis- so big shock! He's doing well. I went back up work at 9mths. He went to a "normal" day care, then a SN nursery,then a mainstream nursery and is now at special school which he loves!

[Frogtits]

Hi Spink

Congratulations on your acrobatic daughter!

Just thought I'd let you know my experience as a sibling to a child with disabilities similar to DS.

Well, my sister was wonderful - charming, naughty, full of humour and achieved more than was expected from her.

Sadly, she died (in her early thirties) of an illness that was unrelated to her condition.

It wasn't plain sailing - she was never able to be independent, had some emotional problems and health problems.

She was so sweet and funny - had a mouth like a sewer and taught me every swear word she knew.

She enjoyed school very much and had many friends. The biggest challenge for her was what to do when she finished school. She worked for several years in a Rudolf Steiner community and then attended a resource centre.

She was fab! She had several friends with DS and I have also had friends with DS - all very much individuals with varying levels of independence.

A friend of mine has DS and works in a charity shop. Her fiancé (also with DS) works with her and the pair of them seem happy.

Best of luck!

[Spink]

hey Frogtits and Wisp thank you.

My mum especially is worried that us having a child with DS will have a negative impact on their sibs / be a 'burden' later on, when we're not around any more or less able to be caregivers. I think she struggles to see that people with DS are that; people, first and foremost. She is just scared for us of course and imagining worst case scenarios. I would show her this thread but she would find it too weird that I share my private stuff with strangers ;)

I am having a shit day - we had a cardiac scan at Kings yesterday, & the image was really poor as dd wasn't in a position for them to get a good view of her heart. They saw some of what they needed to, and structurally it seems mostly good. There is a possibility of VSD which involves the aorta, but they don't have any level of certainty about that as the image was so crap. So, there is nothing worrying so far as such.. just more waiting til we know more. We're having another scan there in a few weeks. I know that heart defects are mostly fixable, so it is not that in itself that has got to me, it's that it feels the goal posts are constantly moving. Before we had a diagnosis of DS, 12 weeks was where we wanted to get to, to 'relax and enjoy' the pg. Then, after her diagnosis, it was the scan yesterday, and the full karyotype results (which we should get any day now), now we need this next scan, though we've been told that even if that looks good, we still need to be prepared, as there may be problems with growth & further scans needed later. I don't feel like I can catch my breath. I know it could be a lot worse, we could've had a scan yesterday that showed severe problems, so I am cross with myself for not focusing on the good news.

I know that this little girl will be cherished and squeezed and the bright new centre of our family, but this pregnancy feels more like a 'problem' than a promise at the moment and I feel horribly guilty for not being more excited and hopeful.

I am just having a bad day. Off to pick the kids up in a second so will put my radio on full blast on the way and try shaking this off. I do know these feelings are normal and just feelings, but I really don't like them.

[Frogtits]

You're bound to be stressed - pregnancy is stressful enough without possible complications.

I'm sorry your mum is being negative - unfortunately, that is a common reaction.

It is worrying to think about what will have happen in the future, when your child is an adult.

I know that my friends with DS share a flat and have a carer. However, I often see them out and about by themselves doing shopping etc.

One lady cycles two miles to and from the cafe she works in.

As a sibling, the main issue I had (when I was a child) was people giving my sister preferential treatment like extra toys and treats. My parents treated us equally, though, so that was the most important thing. I think people are more enlightened nowadays.

[daluze]

There was a lady posting on here sometimes SaggyAndLucy, whose posts you might find useful. She also has a blog, and this particular post might be the one that you could also show to your mum
internationalelfservice.co.uk/parenting/dear-mama-a-guest-post-for-world-down-syndrome-day/
Congratulations on your baby, and she'll be very loved :)

[Spink]

daluze reading that blog made me cry. It is so comforting to read something that could be from inside your own head, but by someone who is further ahead & past the fear. Thank you.

[Spink]

Frog I think you're right. I am sure mum will be less worried when she realises the reality of Downs rather than the myths.
But worst case scenarios keep popping up their heads - while i know many people with Downs live full lives with a fair amount of independence, I'm scared about what it would be like if our dd is severely disabled & can't. I remind myself that even then, it's not likely to be as bad as I imagine& that it's pointless thinking about it but they are hard thoughts to detach from.