just found out unborn baby has down syndromme help

[bubbles3037]

im 3months pregnant and have just found out my baby has down syndromme and im panicing has anyone got any advice

Ok so you havent actually had a confirmation. What you have is a larger Nuchal fold result and bloods which indicate a higher probability of downs. Remember that these tests work on probabilities - they are not 100% diagnostic yes or no.

There are several tests (NIPT - non invasive prenatal testing) that use your blood (which remarkably has some of the baby’s DNA in) to look at their chromosomes. It’s not technically a diagnostic test but it’s over 99% accurate. So ask your midwife about having a NIPT test - the most common one is the harmony test.

Secondly, any cardiac issues do need to be looked at because outcomes can be greatly improved by very early intervention in some cases.

You need to speak to the midwife to be able to talk to someone who can give you some answers. Write questions down as they come into your head and take that with you.

If you haven’t had the amino yet please don’t panic. It will make you unwell.

Congratulations on your pregnancy.

I would take this in each step. Read up on the amino first before DS. Amnio will test for more than just DS and it could be anything or nothing.

Ask for genetic councilling. Ask about your risk factor from scans and ask about risks from amnio

What a ridiculous question.

I've noticed many first responses to threads fall in that category. I can only guess that the goady are quicker on the draw than the rest of us...

Congratulations on your pregnancy x
Get advice from the experts/groups/information out there, and don't listen too much to what others have to say, unless they have been through it themselves. That would be my advice. I should think some people you meet may say unhelpful things or give opinions without really having much real knowledge.

There are so many syndromes that present similar to Down’s syndrome during fetal development. I’d look at getting a formal diagnosis. If the risk of an amnio currently feels to large (although if you have a skilled doctor it can be as small as 0.5%) then if you feel you need a full diagnosis to prepare later on you can have one at any point. I had mine at 24 weeks, meaning should the worst happen and my waters break then I could deliver prematurely and baby had a chance.

Your baby may not have Downs Syndrome. I had a probability of 1:2, lots of fluid, nasal bone not developed. I had a CVS there and then. Nerve-wracking wait fofour days but it turned out he didn't have Downs Syndrome. I was 38.

I don't know much about Down's Syndrome.

I get the bus with a man who has it, though, and he is awesome. He's involved in all kinds of committees and organisations across my city, campaigning for Down's Syndrome patients to be given a fairer and more equal hearing. He tells me about his work, and I am honestly humbled by how much he contributes, particularly given the challenges that he faces (which I understand can vary from individual to individual).

thank you for all the supportive comments i am determined to make sure this baby reachs its full potential im just so overwhelmed i have a 5 year old who is waiting to be tested for autisum and a 11 year old who is in full on teenage mode and just feel like im at my wits end im just panicing about the pregnancy and the effects its going to have on the baby and im just scared didnt relise that there was so much out there as i didnt know where to start looking

Has it been confirmed, I'm confused? It sounds as though you have had the combined test Nuchal fold measurement and blood test, but that usually gives you a statistical chance of 1:whatever chance of downs. You are usually then offered a further test to determine which you have obviously declined.

I didn't think a diagnosis could be given by the combined test alone?

Not trying to argue, just understand the position you're in.

Bless you lovely. I've always thought that we are sent these special babies because they are meant to be with someone special enough to cherish them. I've added this link which might help. Also worth googling Downside up xx

kellehampton.com/2010/01/nella-cordelia-birth-story.html

You have options.

Do nothing and let the future take its course.
Terminate.
Have an amnio first and then decide whether to terminate or do nothing, but with knowledge to help you plan.

Only you and your partner can decide what is right for you. Not me, nor anyone else on here.

It will be a difficult road if you choose not to terminate. But 'difficult' doesn't mean 'bad'.

Don't be afraid to ask about the bad sides. People are very quick to say it might be ok. It might be mild. It might not. You have to think about how you will cope if it's one of the worst case scenarios.

Whatever the decision, its something you'll have to live with, so you shouldn't be swayed to keep if you don't want to, nor terminate if you don't.

I also happen to think that in this case it's not 'your body, your choice', it will have an equal impact on your partner and you both need to come to terms with the decision.

"Welcome to Holland"
By Emily Perl Kingsley, 1987. All rights reserved.

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.

Wishing lots of love to you and your little bump xx

Bless you lovely. I've always thought that we are sent these special babies because they are meant to be with someone special enough to cherish them.

This is so cloying. Emotional shit.

All babies are special. It can be HARD. Don't underestimate the impact.

I don't know if you'll find this helpful but I happened to watch this last night on iPlayer which I thought was lovely:

www.bbc.co.uk/iplayer/episode/p055b5k9/living-differently-series-1-2-our-downs-syndrome-twins

Congratulations, yes of course it will be hard but also so special. I think a pp linked this already but it really is worth a read.

here

Also look up daily dose of Bella on Facebook, a real honest view of a baby with DS.

Firstly congratulations on your baby. I faced a similar situation , a high risk screening but after an ectopic and numerous miscarriages we didn't want to risk an amino. We were going to keep our baby regardless so we didn't opt for the nipt test. Our boy has just turned one , he is an utter joy much loved by the whole family and incidentally he does have Down's syndrome. He does everything at a slower timescale than his siblings before him but he is definitely making progress and in so many ways he is more alike than different to any other child. We are so pleased he is in our family. I do remember being scared at the idea of a Down's syndrome baby mainly because our health care professionals were fixated on worst case scenarios, however our son is so much more than his diagnosis. Please feel free to pm if there is anything you are worried about.

Congratulations on your pregnancy after several miscarriages you must be so excited to be pregnant.

Seven years ago a close friend of mine was told her baby would almost certainly have Down's Syndrome. She like you had endured several miscarriages but decided she wanted to keep the baby. She was 39 and it was her first child. She asked midwife for support but was shocked to find she was pressured to have amniocentesis test even though she said no as was afraid of miscarriage and thought if she was keeping the baby either way the test would be pointless. She was then over several months 'disapproved of' by looks and comments both midwife and consultant made to her including asking her if she thought she was being irresponsible. She had an easy pregnancy and the baby did not have Down's Syndrome. She could have given in to pressure to have baby aborted and would never have known it did not have Down's. Even though unlikely and science will have progressed since then unless you have had amniocentesis test you cannot be certain baby will have Down's Syndrome.

Good luck with pregnancy.

One of my adult children has a moderate learning disability and many of his mates have DS. They are a mixed bunch cognitively. Most are still living with parents into their 20s. One lives in a supported living/working place run by a charity and comes to his parents at weekends. A couple of them compete in a sport in the Down‘s Syndrome Games. At a high level for people with DS.

I knew lots of families with DS children years ago too. Different families as we have moved. Many went through mainstream school with support; some attended special school. To a large extent it depends on local LEA policy rather than the individual level of disability. I think it‘s about 10% of babies born with DS who need heart surgery after birth. So that‘s 90% who don‘t. I‘m unsure if the congenital heart disease can be detected on prenatal scans, l think it is but don‘t quote me on it. Nowadays the surgery is usually successful and straightforward.

Expect to get to know the inside of yourlocal children‘s hospital very well indeed. At the beginning - and probably longterm - you‘ll have lots of clinics, and attention from physiotherapists, speech & language, occupational therapists. On top of all the normal new baby stuff, you‘ll have exercises to do at home with your wee one. It can all be utterlyexhausting and overwhelming but there are people out there for support. HCPs and other parents can be great. The reactions of other people, esp parents of so called normal children, can be odd. But that‘s not universal. I had a terrific support for a while from a mother with well children, but it turned out she had a brother with DS and could see it from her mother‘s POV.

Contact a Family might find you a parent in your area who is a couple of yearsahead. That can be valuable in getting to know local options, etc. Other people have mentioned other sources of support. IME having a label for your child‘s disability is helpful as professionals in health and education seem to find it easier to target support. My son doesn’t have a diagnosis and sometimes we‘d fall into a big black hole support-wise. Likewise, knowing about the DS gives you time to prepare. You have time, both you and the baby‘s dad, to decide who you tell, how you tell it.. What l mean this. Some people will view your child‘s condition as a tragedy,and some people will come out with really stupid comments. You need to take time to decide with those close to you how you want to view it all. And remember these feelings will vary from day to day. Any parent of a child with disability or illness, no matter how much they adore the child and want tobe positive, will have sad, exhausting, angry days. It‘s all totallynormal in the circs.

Sorry l‘ve gone on a bit. I hope at least some of it helps. Take care and do try and enjoy the rest of the pregnancy. And have a think about how you want the birth to be. You might want to think too about how you want the midwifery team to view your situation. Like stop with the constant apologies and please get me someone to give some fecking information. I’ll have a think too and see if l can dredge up any more helpful stuff for you. I used to have some knowledge professionally too. Can you perhaps vaguely say where you are? Like maybe what‘s your nearest big town as you might not want to out yourself totally. If you‘re in Scotland, l can help some more.

As another poster already said, welcome to Holland. I’ve taught a few children who have Down’s syndrome and whilst they have had academic difficulties they have all been lovely young people who have had happy lives. I can only comment on the teenage years, but the ones I’ve known have been happy and made friends easily, been more like a child and less like a teenager through the younger teenage years, so they have needed some extra looking after, but not constant 24 hour adult supervision.

Of course it’s a shock, but you will manage.

Perhaps a firm diagnosis would be a good place to start? A NIPT caries no risk to you or the baby.

I do understand that if the baby has Downs you would be continuing the pregnancy, but would you feel differently if your baby had a different trisomy, perhaps one that is incompatible with life? Might you make a different choice if the baby wouldn't survive birth?

Either way, the baby would benefit hugely from your medical team knowing what trisomy they are dealing with, and there's no downside to being informed.

Bless you lovely. I've always thought that we are sent these special babies because they are meant to be with someone special enough to cherish them.

I really wish people wouldn't come out with this rubbish.

Congratulations of your pregnancy OP. I would seriously consider further testing so you know for sure what your are dealing with. It may not be DS and you're worrying for nothing. And if it is you can prepare yourself and learn more. Knowledge is always key to coping with things I find.

I have a colleague who has Down's Syndrome. She is now in her forties and has worked at our office for nearly 20 years.
I'm not saying it is an easy road for you as a parent but hopefully the options for people with Down's and their families are much better and brighter than when she was a young girl.

I don't know if anyone has linked to ARC yet but they have a helpline and are great.

www.arc-uk.org/

I'm not 100% from your post whether the diagnosis has been confirmed or whether you have received a high risk result from the nuchal screening? If the latter then you could consider the harmony test of similar as this has no risk of miscarriage but is more accurate than the NHS screening.

Congratulations on your pregnancy

How have they diagnosed it .?

There are lots of support groups out there for advice and friendship 😀

Many Congratulations on your pregnancy