1 in 2 chance of Downs

[nicki70]

Hello Girls,
Just wondering if anyone can offer any support. I was given 1 in 2 chance of my baby having Downs Syndrome at my 12 week scan (I was actually 12w4d), my Nuchal measurement was 3.7mm & after having my bloods done got the dreaded 1 in 2... I'm 40 years old.

This is my 1st pregnancy after 3 rounds of IVF & naturally we're very worried (devastated). We've already decided whatever the outcome we both definately want to keep the baby, but just need to know now so we did an amnio yesterday & have to wait till next Thursday to get the result (10 day wait). In the meantime we were sent off to London to have a fetal echo of bubs heart & although the heart is normal thay could spot some 'bright spots' which could be nothing but are also soft markers for DS. Also yesterday they took a few measurements before doing the amnio & it turns out bubs femur bone is on the short side, so another soft marker. There is a very prominate nasal bone though.
I know it's not looking good but just wondered if anyone could sent me some encouraging words of wisdom? It's going to be a long long wait for the results.
Nicki xx

I just wanted to say that I was also given a 1 in 5 risk result, after a 3mm nuchal measurement, and one of the levels in my blood test results were slightly low, the other was normal, and my age 40. I refused amnio, and nothing else in any of my scans showed a problem. My gorgeous baby boy was born 3 weeks ago with down syndrome. He spent 11 days in special care, but that was due to his birth and infection due to being covered in meconium,(if thats spelt right) when he was born, his heart is ok and has no other problems at the moment. He looks just like his brother, and if you didnt know he had downs, its not that easy to tell just by looking at him. He has a good strong suck and we are mixed feeding at the moment. I can honestly say he is the easiest baby i've had, and i've had five, although that could change as its early days!

Best wishes and good luck with your results.

Remember I have been following your story, I just wanted to say that my DS2 who has Downs looks like his dad and his brother. It is very hard to tell from looking at him (ie his face) that he has Downs, only one person (a nurse who works with adults with SN) noticed.

When he was born there was 'something' about his eyes that made me ask the midwife to check, now I am so glad I did this, that I spotted it, not that someone had to tell me. But it was only a fleeting thing whatever it was I saw. When my BiL (a doctor) came to see him he also said it was very hard to tell and made sure it was checked with a blood test! You might want to think about this for your labour, do you want to look at the baby first or do you want the baby examined immediately and have someone tell you?

In relation to the GroupB strep, I had tested postive for it in my last pregnancy so I was supposed to have anti-bs in labour. DS2 had other thoughts and arrived in a 5 minute labour so he had to have them for two days after birth. I think you can ask to be tested and see what they say.

My son also didn't look like he had Downs when he was born. In fact, a paediatrician examined him and said we could go home without noticing. He wouldn't feed and I was chatting to one of the midwives, who had some experience of babies with Downs and she mentioned how tiny DS was and I said yes, he was, especially compared to his older brothers, who had been 9lb and 10lb at term and 38 weeks ( was just under 7lb, born at 37 weeks). She then felt he had some of the features of Downs and asked another paediatrician to examin him.

Even when I went for my six week check the GP seemed to think I didn't know DS3 had Downs and subtley 'questioned' me.

DS3 does look like he has Downs now, but that doesn't matter at all, he is a gorgeous little bundle of joy and makes everyone smile wherever he goes. He has such enthusiasm for life and I can't imagine my life without him.

Effi, Eliza and Midori - it's so lovely to hear about your LOs and really helpful to me to hear about their births.

Effi - congratulations on such a new little bundle - how was he diagnosed? Is it routinely tested for at birth these days?

I think I'm more worried about the heart defect and getting through the time before the surgery and then the surgery itself. it's going to be very stressful.

My son had open heart surgery at six months old. I suppose I was lucky in that we knew he had a problem, but we didn't know he'd need surgery until the day before he went in. He sailed through it though and it really is pretty much a routine op these days. He was only on a ventilator for 4 days post surgery, not the 10 they said to expect of a child who has Downs and he also didn't get a chest infection, againm something they said was a given for a child with Downs. He was home on day 6, with just calpol as pain relief. He was absolutely fine.

Well, just got the results back from the amnio & baby does have Downs syndrome....
Was expecting it tbh & just glad it's downs & not the other 2 more scary ones.
Had a long chat with DH & we're both being very 'grown up' about it & think we did the right thing by finding out prenatally so we can be as prepared as possibly.
So no doubt will be on here a whole lot more!
Forgot to ask the sex. Have a consultant appointment to discuss things on Monday but other than that will let things sink in & probably won't do much else till after Christmas. Baby due Easter Sunday!
xx

Agh just typed you a long post and lost it!

Have been thinking of you in the run up to these results! It will be tricky for a while coz of all the "'what if's" that are in the back of your mind at a time like this.

Am happy to answer any questions you have in the coming months. As I'm sure will all the others who have a child with downs. And like us in the future you'll prob look back a realise it hasn't been anything like you'd imagined being in 'our boat'.

Congrats and a bug hug all rolled into one! Xx

nicki70,

Sorry the news isn't fantastic. As you say, at least the scarier possibilities have been ruled out.

I think you've done the right thing too in finding out. My best and oldest friend had a little boy with Down but it was undiagnosed (she had nucal and bloods so no one is quite sure why it was missed). She wished she had known so that she could have been prepared and could have prepared her immediately family as they found it hard to cope (must also add that he was 2 months premature, for reasons unrelated to downs, which made things difficult for a while).

Wishing you all the best for the rest of your pregnancy. I hope once you've processed the news that things will feel better.

nikki sorry it wasn't the news you wanted. I know its a huge shock and sadness but I am sure when you see their little face all will be/feel ok. My DS is nearly 10 months and although I am still very sad sometimes, he really is part of the family. If there's anything else you want to know/ask please get in touch!

Hi Nikki, sorry the news wasn't what you wanted, but on the up-side it seems the baby is good and healthy.

I don't have any recent experience with Down's Syndrome, however my Mum had a DS baby (my brother) and she said he was one of the best things that ever happened to her and my Dad.

He unfortunately died at 18 months due to severe heart problems, (please don't be alarmed by that as it would not have happened if he was born today as surgery is now an option for Down's babies whereas it was not in the 70s).

I don't remember him very well as I was only two when he passed, but my parents still have pics of him around the house and they always talk about him with such love. Apparently everyone who came into contact with him adored him as he was such a joy and had an infectious laugh.

I suppose what I am trying to say is that even in the 70s when there was very little support for parents of disabled children, my parents always saw him as a wonderful gift. And that that he happened to have Downs Syndrome did not change the fact that he was a fantastic little person and I know my life would be much richer if he was alive today.

I can only say that I wish you all the luck in the world and that you have a wonderful future awaiting you with your beautiful baby.

NIkki - sorry you didnt get the result you were hoping for, but your post shows such dignity that any child would be lucky to have you as it's mum

There are lots of support groups available, both in person and on the net. Have a look around once it all becomes a bit more real.

And Easter Sunday eh? What a perfect excuse to gorge yourself silly on Easter Eggs

Nikki, you are right when you say Downs is defiinitely better than the 'other two'.

In my case, I am glad I didn't know prior to my son's birth, as I would have expected something it's not. My friend's Mum (who I spent a lot of time with) has a;ways worked with what used to be termed as 'mentally disabled' adults, including those with Downs and although I loved the adults she worked with, I admit to feeling sort of awkward around them and also remember feeling awkward around the children at a Downs group I went to when my son was a baby. I just couldn't see past the Downs and I suspect a lot of people are the same. However, with your own child, it's completely different. You see the person first and foremost and the Downs just becomes a small part of who they are.

I can honestly say that after the first few hours of feeling pitifully sorry for myself when I was told, I have never felt a moment's sadness that my little boy has Downs. I would never wish him not to have it as it's part of his personality. I also think he is so lucky in a lot of ways. Ways that somemight see as negatives, but he doesn't really get sad, he doesn't see the bad in people, he doesn't have to struggle with his homework like my other boys and get upset about it and as an adult he won';t have the same pressures of everyday life like most do. When I sadly lost my twins in April, he knew nothing about it really, so didn't feel the horrible sadness we all had to and still do, suffer. His life will be different to his brothers, but that doesn't mean that it will be bad in any way.

This is all coming from someone who even considered a termination very early on BTW, (we didn't know he had Downs) as his wasn't a planned pregnancy. Having him was one of the best things I have ever done.

All I'll say is "I bet you are going to be a great mum, our children come in all shapes and sizes!"

Thanks Girls!

Midori1999 - So sorry to hear about your twins. That must have been an awful experience to go through.

Rocklover & Shandi1 - Thanks for sharing.

Eliza70 & Justonemoreplease - I'm sure I wil be in touch in the future!

I must admit since looking into childen with Downs I haven't really come across that many negatives & am relieved to read that first & foremost they look like you (& DH!) rather than you seeing a baby with downs. That was one of the things I was most worried about, not seeing me or DH in our baby.
I'm going to look more into the support groups etc but maybe not for a few weks, we still haven't told our parents, we kept the amnio a secret from them as felt we needed to know & to digest any news before telling others.
Seeing the consultant on Monday for a plan of action & hopefully then will find out the sex, forgot to ask yesterday!

I can understand your worries about your baby not looking like you, but just seeing the Downs and glad your fears have been eased.

Looking at pics of my brother now I can honestly say he was absolutely beautiful, with auburn red hair and chubby cheeks. The only thing you could slightly see as DS in his appearance was the distinctive shape of his eyes, but other than that, he was just a very lovely, cute baby/toddler.

Good luck with your appt on Monday. :)

Oh how exciting let us know the sex and you can start thinking of names!!!

Our ds1 it and always has been the spitting image of dh. He has my mil's personality (laid back and a real comic) and my dd1 who is only one is just like him.

In fact my ds2 keeps asking me "why does everyone say that dd1 is sooooooo like ds1 and not me, it's not fair!"

Ds2 (the one who doesn't have downs is the odd one out looks wise) maybe dc4 will be like him (we'll see in feb)!!!!!!!

nicki70 good luck with the rest of your pregnancy, I had a 4d scan with my little boy, although we didnt know he had downs at the time, it was good to see his little face and bond with him, iyswim? It could help ease your worries about what he/she looks like. When I took my other DC to see the baby in the neonatal unit, I let them see him first, before I told them about the down syndrome, I wanted them to see the baby, not the syndrome, if that makes sense!
Remember Its not routinely tested for at birth, but because I had a high risk result in pregnancy, and they could see a few signs when he was born, they tested him. His heart seemed enlarged too, which they thought was a sign, but it wasnt, it was because it was having to work hard because of his breathing problem.

All the best with your results. When my children were born (not Downs, but with a medical condition which was a lot to take on at first, esp with both having it) someone shared this with me. It maybe didn't help at the start, but I found myself dwellilng on it a lot, and finally being uplifted by it.

All the best with your tests, and enjoy your little one when he/she is born.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Sorry, I now see you have had the results and that someone has already shared this post too.

Did you find out the sex? How are things going now? Have you got your names picked out?

nicki - you can contact the UK down syndrome association - they have some fab stuff for you to read - they send it out to you - and you know - we just read it bit by bit. It is there for you to read at your own pace. I found it very informative although my dh and I had known families who had a family member with down syndrome and so had some experience - we still found it great to have something to read to - and to pass onto others who were asking for information.

Nicki, really sorry about your news. I think you will be a terrific mom and your baby is so lucky to have you. Wishing you a healthy pregnancy and good delivery, and many fortunes!

Hi Nicky
HUGE congratulations on your pregnancy. When I was 21 I was on fertility treatment, I was on month 7 of Clomid when I finally fell pregnant and was due to have IVF 3 months later. Thankfully I never needed the IVF, but just goes to show that happiness does happen :-).

Anyway, whatever the outcome from this you will have a gorgeous loving baby. My friend has a child with DS, she was 21 when she gave birth and he is almost 7 now and one of the most amazing kids Ive ever met!

You will love this child no matter what.
The post on Italy and Holland is exactly how you should think about it. Its not bad, its just different :-) there is still 50% chance of having a "normal" child xxx