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

@NorahM same here . My son is a swan , we had a cvs in pregnancy and were told our son was perfectly typical .. he is not .. hey ho 🤷‍♀️

@sportyfool
Our son’s syndrome was only named in 2013. I have several friends who have swan children though.

I’m pregnant again now and even though our risk is the same as any couple, I will be opting for a CVS with a prenatal array (not just karyotyping). But even then, according to our genetic counselor, it will only detect 6-7% of everything that can be wrong with the baby. Amnio and CVS have no way of detecting single gene mutations or microdeletions and -duplications that are too small to be detected (but could include a key gene).

The more you learn about genetics (which we do in our cases!) the more you understand that it’s incredibly complex!

That’s why I always feel a little uncomfortable when people declare they are expecting a perfectly healthy baby after their CVS or amnio comes back clear...

Was there a reason you guys went for CVS?

My bloods came back with high odds for Edwards syndrome although his scan was fine . We have an older dd who is unaffected.

Omg look at those cheeks!😍
Congratulations on the birth of Harry

Congratulations!

He's a beauty OP.
Congratulations to you all

Congratulations! He is beautiful.

Hi, he is beautiful thank you so much for all your kind words, Update is he has 2 wholes In his heart that will not close naturally, They will operate on him when he is 4 months old, he is now on diuretics to help with the fluid, while it does not seem to be causing him any issues at the moment other than getting a little tired when feeding he is doing really well. I have to say we did not expect it as we had a very in-depth heart scan at 20 weeks but they say this could not be picked up. This is very common and the surgery very well known and done regularly. We did have a little panic but it is what it is and we are dealing with it as long as he is ok then we can face anything.... As I say it does not seem to be affecting him at the moment and is growing well

He is beautiful, thanks for the update and photos. Will be thinking of you coming up to the surgery, I'm sure everything will be OK though.

Hi LittlePea
Just read your post.
I am 23 weeks pregnant and have just come back high risk for Down’s Syndrome. I am 42 and was given 1 in 20 chance so I got the result I expected. I am feeling daunted about what lies ahead but know the Joy will outweigh. I also watched the documentary you mentioned with Sally. What a wonderful lady. So inspiring. How was first year? My approach is to take one day at a time. I am a support worker and so work with people with learning disabilities. The most wonderful care free people to be around.
Be good to hear how your journey has been so far.
Look forward to hearing from you.
Jo

Hi All,
Harry has now had his surgery we are 4 weeks post op and he is doing amazingly. His chest has healed really well. He no longer has the NG tube in and is feeding well. We have seen his development soar in the last couple of weeks he is babbling all the time. Lifting his feet and bum. Fascinated by his hands and all in all moving forward. Thanks for everyone's support. Pictures for cuteness xxxx

He’s beautiful! x

So pleased to hear! He is a little cutie x

Hi All just wanted to give you an update, Harry is now 3, attends nursery, while he is not talking, he knows his own mind, can do Makaton, loves to be outside. Is a gorgeous cheeky little man. Health wise he has mild sleep apnea, has bowel issues and does not eat very well but other than that he is a typical 3 year old. He has changed all our lives so much and we could not imagine life without him. We wouldn't change a thing.

What a beautiful boy.

He’s absolutely gorgeous. Thank you for the update.

He's an utter cutie. Thanks for the update.

@Crazylady1 he is absolutely gorgeous. c

Your child is beautiful

Oh thanks so much for the Update, he is unbelievably gorgeous and it’s brilliant to hear he is doing so well! My daughter is now nearly 6 and goes to reception at a mainstream school. At 3 she had a handful of words, and lots of Makaton, but now she’s a proper chatterbox, building longer and longer sentences and love playing with her sister!

@curliegirlie she is beautiful, thank you and that is so reassuring h to hear as we so want him to talk, he makes sounds but no words. I am sure it will come with time xx

What a wonderful update. Your boy is beautiful.

Hi @Crazylady1 I hope you don’t mind me messaging xxx your little boy is a sweetiepie x you’re so lucky x I’m 22 weeks and the doctors have told me my baby will need an operation to have the holes in her heart mended. I read your post that your little boy had the same. I’m so looking for support and I saw you went through the same x wondered if you could let me know how you found it. A bit scared right now. So sorry to message xxx sending much love to you & your family 💗

@Sunshine1982flowers211111
Hi, Thank you for your lovely words, I know how scared you must feel we were the same, it's the unknown, but I promise you the fear of it is worse than actually living it. Your instincts kick in and you do what you need to do and I don't know how but you manage.

We had a scan on Harry's heart while I was pregnant and they could not detect the defect and we felt so relived, however within 24 hours of him been born they detected the defect. We were scared and had no idea what it actually meant.

We were surrounded by a fantastic medical team and we got referrals to specialists very quickly. Due to the condition Harry could not eat very well and it exhausted him which meant that he had to be tube fed. They had to wait for him to grow a little and get stronger before they could operate and we spent just over 3 months in hospital with him which was hard. However once he had the operation which was done at Alder Hey Children's Hospital, the change in him was amazing. It was the scariest time of our lives however we knew he needed it and he was being treated by the best. Harry was out of hospital just under 3 weeks after having the operation. He recovered amazingly and while he will be under cardiology for the rest of his life it is just to monitor him. In the first 6 months after surgery we saw the specialists every 2 months, it then went to 6 months, then 12 and now he sees his specialist every 18 months.

Because they have detected the defect while you are pregnant you are in a much better position than we were. They will keep a very close eye on you and your little lady and can plan accordingly.

Holes in the heart are extremely common in our kiddo's and while it is very scary and worrying for us as parents, it is an operation that is very well known. Do not be afraid to question the Dr's, they are the specialists medically but you are the specialist when it comes to your baby.

Harry is 3 now and is such a character, he does have some other medical issues, gastro, sleeping and eating, but nothing that is life threatening it just needs a little more management, He is not talking yet, however he does do makaton and knows how to get what he wants. He loves being outside and in every other way is just like any other 3 year old.

I follow the following which I found very helpful
Facebook

• Down Syndrome Support for mommies
• Down Syndrome Support Group
• Future of Downs
• Don't be sorry

I tried to not look things up on line medically, if I had a question I spoke with my medical team. My midwife put me in touch with the specialists who I would be dealing with.

I spoke open and honestly with my partner, my fears, hopes and dreams for our baby... And when he was born we discussed everything together and made the decisions together, we never did anything until we were both 100%. We kept a spreadsheet to track his medication and feeds as he was on lots of meds to help his heart and was not eating a lot. And it helped us to keep track when seeing various specialists we could share the data straight away.

It is scary and it is hard at times but you will get through it, watching your child grow and achieve and never give up, gives you the strength to be strong for them and you.

Happy to chat anytime. I know you will worry but while that baba is in your tummy try and enjoy your pregnancy and once your little one arrives draw upon the support around you.

Our kiddos are amazing and we are lucky to have been blessed to be there parents. Sending you big hugs xxxxx

Just a few more photos of a Harry at the weekend experiencing a very windy west Kirby while his big brother did a wind surfing competition. As you can see the wind amd cold did not hinder his enjoyment. Xx