Down Syndrome Diagnosis

[Crazylady1]

Hi, I am looking for people that are or have been in the same situation as us. I am 14 weeks into my 2nd pregnancy and had confirmation last week that our baby will be born with Down Syndrome following a harmony blood test, we were given a 1 in 5 diagnosis that prompted us to do the further testing that lead to a confirmed result.

I have a DS aged 8 with a different partner that was conceived following 7 years and 5 attempts at IVF.

So to conceive naturally was unexpected but a wonderful surprise for us both , this is my partners first child.

Our initial reaction was that we would continue with the pregnancy, however we are now unsure and bouncing between continuing and terminating .

I am 39 and my partner is 41, while we know that we would love, adore and support this child if we continued with the pregnancy, our biggest fear is when the child gets older, how will we cope in our 70's with a adult with disabilities? (if we last that long!!!) We don't want my DS to feel it his responsibility to care for his sibling and we also don't want to be dependant on society but we are a standard family with an average income.

While we know that Down Syndrome Adults can lead independent lives with minimal support it all depends on the severity of the disability and we have no way of knowing the severity of the disability until birth. We have decided that we want to have the 20 week scan to see if there are any further problems that can be detected ie heart / bowels, but even then it will not be conclusive. I think it 's the fear of the unknown, I have spoken to 2 families. 1 has a Daughter aged 13 who is mildly effected, however they said if they had known they would never have gone through with the pregnancy which surprised me as they adore her, another was a distant relative who has a 48 year old Down Syndrome male who leads a fulfilling life but still lives at home and requires assistance like showering and personal care and they would not change a thing... My partner is very supportive and we are talking but he is struggling as am I, We would never judge anyone on the decision they make in this situation, however been in this position we feel lost and know that only we can make the decision for our family. We have spoken with the consultant who is putting us in touch with further families and I am researching as much as I can but how on earth do we make this agonising decision??? any advice / guidance that can be offered would be greatly received. Thanks a Mummy in turmoil

Congratulations, he's lovely 😊 I bet your DS is over the moon with his baby brother. All the best for your family for the future xxx

Ski. RTFT

Congrats OP, he's gorgoeus x

Gorgeous, Congratulations.

You are blessed beyond blessed. Congratulations x

Congratulations hes a beautiful little boy!! xx

Lovely news OP, congratulations! He’s a beauty. You will have so much fun together xx

Congratulations to you and your family!
What a gorgeous little boy, well done OP xxx

Congratulations. He's lovely

SUch a lovely update! Hope you are getting some sleep

Congratulations! Welcome to the world Harry!

Congratulations!! Gorgeous Harry x

Ah congratulations on your precious boy! Was just reading the thread with interest and then what a lovely update to get to!

So delighted for you guys and welcome to the world baby Harry! Wishing you and your dear ones all the very best xx

Oh! I've reported my own post! I am very much behind times.

Congratulations OP! I responded to your initial queries and I now see this has been updated to wonderful news. My former post should be removed any moment now.

Congratulation, I am currently waiting for my cvs results after a positive harmony test. I’m scared as not sure what to do and emotions are high. Did you have a cvs test?

Hi All, thanks for the lovely messages. He is doing fine, his platelets were low and they have now increased and he does have a slight heart defect which we are hoping won't require surgery. We are seeing the heart specialist in next 2 weeks. He is alert, has good control over his body not floppy. He is just perfect and we are all so besotted by him.

Alice 1976, it is such an emotional time we were all over the place for weeks and did not know what to do for the best, the key is to talk through your fears with your partner, be completely honest on how you feel and some days it will be "We can't do this” and other days it will be “of course we can do this”. It is a personal decision that you have to make as an individual and a couple, and decide what is right for you, your partner, your family and of course your baby. There is no right or wrong decision, there is just your decision and that is all you can go with. My advice is don't rush into anything, talk about it and decide together. We did not have an amnio as we did not want to risk a miscarriage. The way we looked at it is that if our older boy were to become ill or disabled we would never give up on him and there are so many disabilities that cannot be tested for. Being made aware that he would have Down Syndrome before he was born allowed us to mentally prepare ourselves. Between the 12 week scan and 20 week scan it was horrible, I cried, we cried, I couldn't bare to be around babies or other pregnant women. It really was horrible. We spoke to people, asked questions, read up on what we could. Our view was as long as we all had a good quality of life both now and in the future then we were going ahead. Once we’d finally made our decision we could finally begin to enjoy our pregnancy again, and look forward to him arriving. We know we are going to have challenges and sometimes it will be really difficult, but then that is no different with any child, it will just be different challenges and we are as prepared as we can be for whatever they may be. We have a very loving and supportive family who have been and will be with us every step of the way. My heart goes out to you, whatever you decide it will be what is best for you and your partner. Big hugs xxxx

Fairgroundsnack, yes I am following Sarah on FB page "Don't be sorry" and have found it very helpful. Thank you x

Our bundle of perfection 😍

Congrats he is beautiful. How is your ds getting on with the new arrival? !

Congratulations. He is utterly gorgeous 😍

Congratulations, he’s absolutely gorgeous. Be still my ovaries!

Reading through your post, I had to snigger at people (not in a mean spirited way, mind you) who go on and on about “I wouldn’t be able to do it” and “more power to those who can”.

I don’t get the obsession with Down Syndrome. Well, I get it, I guess because it’s the only very easy to test for surviveable genetic condition. But there are cases, like my little boy, whose pregnancy was perfect, blood tests were perfect, scans were perfect and Harmony test came back low risk... so there was absolutely no reason to do any invasive tests, yet at 20 months old, was diagnosed with a much rarer (1 in 55,000!!!) genetic condition. So, there you go with “I wouldn’t be able to cope”. Of course you’re going to cope. You’re going to mourn, cry, ponder about the future and then pick yourself up and cope. Just like all the other parents who have kids with Down Syndrome. And love that child to pieces, just like you love your NT child(ren).

Same here @NorahM .... I don't think a lot of people realise you can have all the tests available and still have a child born with a genetic condition . The irony if most of them are much worse than downs .

Exactly @sportyfool
I guess we’re lucky that in our son’s case, he’s happy and healthy but there are concerns of seizures (about 3 in 4 will get them) and of course all the learning disabilities it comes with. And mostly, in our cases, where these genetic conditions are much rarer, we don’t have as much information! In our case, we only know of about 500 diagnosed cases worldwide so there is not much to go by. We literally have to take it day by day.

I agree with a PP who said that poor Down Syndrome gets picked on the most because it’s the easiest to detect.