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Original poster

1 in 4 risk of Downs Syndrome - feeling overwhelmed

52 replies

Sparkle555 · 11/03/2014 13:56

We had our scan last night, dated me at 13wks 1day and sadly told after the scan and bloods it's a 1 in 4 risk of DS. All the information we were given was so overwhelming and hard to take in whilst trying to keep myself together-I just wanted to curl up and cry. I'm 36, the NT was 2.70mm upper limit of normal but the bloods really bad hGC 4.34 and PAPP 0.65 so it's the bloods that dramatically increased the risk (just the scan it was 1:189 which feel like amazing odds now). We've opted for the Harmony blood test initially so now have an agonising 2 week wait. I can't quite believe the range of thoughts and feelings I've had in less than 24hrs-it just feel very bleak and I feel guilty for this but I don't want to spend the next two weeks being "positive" when the outcome and decisions I need to prepare myself for and fairly quickly seem very likely. Sorry for the long post-my heart is torn up.

OP posts:
Tranquilitybaby · 16/03/2014 07:17

Ginger Rosgers makes a v valid point OP, try not to get on a state, what will be will be. Keep busy and hopefully you'll hear ASAP. Xxx

Lelivre · 16/03/2014 13:00

A good friend had 1:2 at this stage. She opted for no further tests. She was naturally anxious during the rest of the pregnancy. Baby was born perfectly well

saralou212 · 19/03/2014 10:43

Hi, ive posted my own thread on here but wanted to reply to you. I was looking for some support too, I had my first scan and was told my nuchal measurement was 5mm and that my baby will have big problems. But I was asked to go back for a second scan which is this friday because I was only ten weeks gone.
im petrified of the results being the same or worse and I know im going to have to go down the agonising test route.
I know exactly how you feel, this is my first baby and im already traumatised by it! Just try and keep busy it seems to be helping me.
I hope everything turns out well for you x

Original poster
Sparkle555 · 19/03/2014 14:32

Saralou I'm sorry you're going through this too and so sorry it's happening with your first pregnancy. "Big problems" isn't very helpful to you-did they say anymore. Someone has given me lovely advice (because I feel so distance from the pregnancy) to try to cherish this time-no matter what happens. I've been up and down-the waiting is hard but I do feel stronger as each day passes. Stronger to be positive but also stronger to face the reality that our baby could be the 1-I know this was decided at conception and there is nothing I can do to change it but I can prepare myself-I was so so unprepared before the scan (and feel a bit stupid about that now) that it knocked me sideways. The other hard reality is time keeps going-I'm 15 weeks on Sunday that does change my options so I'm glad I've been brave to look into that. I've just spoken to ARC who were great if you feel up to calling them. Stay strong and I really hope all goes well.

OP posts:
Original poster
Sparkle555 · 19/03/2014 14:40

Saralou I've just read your thread-I can't believe how insensitive the practitioners were-you poor thing. If you can ring ARC they are so informative-they obviously can't tell you it'll all be ok but they are kind when giving the facts. My situation is exactly the same as it was before I called them but I feel a real sense of calm and strength. Good luck with you scan x

OP posts:
saralou212 · 19/03/2014 14:53

Thanks so much for the support its so appreciated. I feel worse because we were so excited about the first scan with it being our first baby and to be told I would probably miscarry or it would have a chromosome disorder and not survive was devastating. But baby bean is still going strong as far as im aware :-)
I think ive prepared myself for the worst already and if itturns out ok I might name it lucky!
Im so scared of friday, I just hope I get a nurse thats a bit more sensitive!

Thanks for the ARC suggestion I may need them.
I really do hope that everything goes well for you guys. Iwill be posting on my ooriginal thread on friday to let all of you lovely supportive ladies know how it went.

pinkpip100 · 20/03/2014 06:43

OP I'm so sorry you're going through such a stressful time and hope you get the results you want.
If it's any help, I have an 8 month old dd with Down's Syndrome - she was diagnosed at birth rather than pre-natally. She's already a happy, cheeky little thing, delightful and completely gorgeous (just like all babies!), and although things are different to how we imagined they would be, it really isn't the horrendous, bleak situation that I might have thought about if I was in your position. I think I've learnt that we don't know the issues and hurdles that any of our babies will face, but I think because it can be tested for so early Down's has become one of the biggest fears. It really doesn't have to mean the end of the world though. If you wanted to read more, the Down's Syndrome Association (DSA) have a section on their website for expectant parents with loads of info.

CloverHeart · 20/03/2014 18:10

Hey Sparkle

Thought I would lend you some support. I have been told my baby has a 1:16 chance of having downs syndrome due to a low PAPP-A level and high hCG. I completely understand how you are feeling right now.

We are having an Amnio in 3 weeks time as my placenta is posterior so they couldn't do a CVS.

It can become all consuming, especially when you have to wait for the test and then the results. The only advice i can give is to focus on the positives and draw on support from those around you.

Thanks
Original poster
Sparkle555 · 21/03/2014 11:51

I got the call this morning and sadly our baby is the one. Just wanted to let you know as you've been the main people I've been able to talk to during this horrible two weeks. Feeling pretty numb. I wish everyone who is waiting for results the very best of luck.

OP posts:
WipsGlitter · 21/03/2014 12:55

Today is world downs syndrome day. I know you can't believe it but having a child with Down's syndrome is not the worst thing. My heart is filled with love and joy for my child. Your worst fears may not come true.

dear future mum...

Please talk to me - ask anything you want.

Christelle2207 · 21/03/2014 13:02

So sorry sparkle. Im sure you'll make the best decision for your family xx

pinkpip100 · 21/03/2014 17:10

I'm so sorry you didn't get the result you wanted OP and that this is such a stressful time for you and your family.
I just wanted to reiterate everything that WipsGlitter has said, having a baby with DS really isn't the worst thing although I know it must feel like it now. You may not be ready for it yet, but this film is beautiful and very relevant www.upworthy.com/a-pregnant-woman-learns-her-baby-has-down-syndrome-people-who-have-it-answer-her-one-big-question-2?c=reccon1

Thinking of you.

pinkpip100 · 21/03/2014 17:12

Sorry, I've just seen that WipsGlitter has linked to the same film clip.

CloverHeart · 21/03/2014 18:34

Look after yourself and your Family Sparkle. Stay strong, you wil get through this {{{hugs}}}

curiousgeorgie · 21/03/2014 18:45

Im so sorry to hear that, but as others have said, its not the worst thing in the world, though I completely understand you must be incredibly shocked and upset.

blogs.qvcuk.com/claire_sutton/

This is a blog by someone I know about life with her son who has Down syndrome. It's really lovely and very helpful x

Tranquilitybaby · 21/03/2014 18:56

Sending you a huge hug xxxxx take some time to let it digest first, you may feel more at peace with it in time xx

CrispyFB · 21/03/2014 20:07

I'm so sorry you didn't get the results you were hoping for. Sending you strength for whatever decision you end up making.

RecentlySpotted · 21/03/2014 20:21

WipsGlitter my friend's son has Down's Syndrome too - she would also say the same as you. Smile

Elderflowergranita · 22/03/2014 00:39

Sparkle, I know you will make the best decision for you.

A very good piece of advice I was given, is to take time to imagine life life with each scenario: the reality of life bringing up a child with Down's Syndrome, in as much as you can imagine that; and the reality of life after termination of a pregnancy where Down's was diagnosed.

I chose the latter, and that was the right decision for me and my family.

Hope and pray that you will find strength and support over the coming days. xx

MrsT2007 · 22/03/2014 14:44

We chose TFMR for downs and other complex issues.

We have a mentally disabled step-relative in his 50s and the problems & heartache associated with caring for him were not something I wanted to leave my elder child to deal with when we are gone.

I promise you, you will turn a corner. I was where you are now almost exactly 2 years ago to this day (28th March for me)

Right now it may feel like staring into the abyss but allow yourself the time & space to grieve. I bought a rose called 'sweet dreams', where our sons ashes are spread. It makes me cry and smile when it flowers but tending it that first summer helped me.

And my next pregnancy is now a happy, bouncing, healthy 8 month old.

Hang on in there, there's a rainbow behind the cloud xxx

FobblyWoof · 22/03/2014 14:55

I have nothing to add, but you're in my thoughts Thanks

missmapp · 22/03/2014 19:45

Sparkle, you and your family are in my thoughts and prayers. Some good advice here. You will make the right decision for your family.

morethanpotatoprints · 22/03/2014 19:50

Hello OP

I was told I had 1 in 3 chance of ds with dd from a blood test.
I refused further testing and she was fine.
For me I didn't want to agonise over it all the time.
A consultant told me whatever the results say, it is 50/ 50 as with anything else.
it sort of made sense and made me fret less.

morethanpotatoprints · 22/03/2014 19:54

Sparkle, so sorry for my last post.
I don't know what happened but page 1 and 2 merged together and I missed your update.
I am sorry you didn't get the result you needed and thoughts are with you, it can't be an easy decision. Thanks

dozily · 23/03/2014 07:47

Just checked back for an update. I'm so sorry it wasn't the news you were hoping for Sad

Good luck with whatever you decide to do Flowers