Downs Syndrome & Heart Defect found at 30 weeks scan

[Traceyv]

I have just had a scan at 30 wks and have been given some devastating news. The baby (boy)has a heart condition known as "Atrio-Ventricular Septal Defect" and is 80% certain to be Downs Syndrome. Has anyone else any experience of these conditions combined.DH and I are finding it hard to come to terms with this so any help would be greatly appreciated.

Further to the above we now find that he will need major heart surgery at 3 months..

Dear Traceyv, this is such distressing news coming relatively late in your pregnancy. After a blood test at 16 weeks, we were told our son was very high risk for Downs syndrome, but in fact he was not affected. However, I remember well the heartache caused by that news, and so can only guess as your turmoil. The heart condition creates a further and potentially much more threatening situation for your baby. I don't have any first hand experience of it, but there must be someone at your hospital who can sit down with you and your partner, and explain all of your options. You have a difficult and distressing situation to cope with, and I wish you strength.

Tracey
If anyone can deal with this you can. You sometimes underestimate your own strength of character. This baby is so special. There is a buddhist belief that each baby chooses the parents it wants to have, your baby chose you two to bring it up. You don't know it yet, but you will have so much joy from this baby and will learn so much from him.
I am your family and I want you to know that if you ever need anyone, I will drop everything to be there for you. Just say the word.

I'm so sorry to hear your news Tracey. The NCT has a register of experiences and they may well be able to put you in touch with someone who has undergone the same thing. Call them on 0870 444 8707, which is their enquiry line. There is also a Down's Syndrome charity which is probably in your phone book. Thinking of you.

I've just had a quick look on the net, Tracey and came up with these charities. There are lots of others, too. It seems that the heart syndrome AVSD is one of the commonest, and treatment appears to be well tried and tested. There are also sites devoted to heart problems in downs children.

www.downs-syndrome.org.uk
www.downs-heart.downsnet.org
www.cafamily.org.uk

I think Tracey really needs to hear from anyone who has had any experience of a Downs child or a child who has had a serious heart defect. I can't speak for my sister but she is having huge difficulties coming to terms with the fact that her baby has both of these conditions, and no-one in our circle of family or friends has any experience of either.

Any information or advice that anyone could give right now would be greatly appreciated.

If your sister, Lisav, or Traceyv gets in touch with NCT or Cafamilies, either of them will do their best to put you in touch with someone trying to cope with the same thing so you can talk it over.

NCT on 0870 444 8707

www.cafamily.org.uk

Thanks everyone for your support. We have just returned from a weeks break to think things over.
We are still very upset but feel we are graually coming to terms with events.Will keep you informed.

Tracey,
are you still checking this board?
I have a 5 months old daughter with Down's. She had a ventricular septal defect and needed surgery at seven weeks. It's very frightening and upsetting, but she's a very bonny little girl now, learning to sit up and always playing with her toys ad whatever happens to be in the vicinty.
She really is delightful and a picture of health, yet I was absolutely devastated when she was born - it felt like my world had collapsed (well, you know what it feels like!).
Please get in touch if you feel up to it.
Also, I found the downs-heart mailing list at yahoogroups.com a pillar of support.
My email address is [email protected]
You can see a picture of Katarina (my little girl) at www.fasterpage.com/beanbag.jpg She was six weeks old then.
I really hope you get this message.
Hugs,
Eva

Hi Tracey,
me again... just remembered some other stuff. The downs-heart mailing list is supplied by the charity downs-heart (www.downs-heart.downsnet.org). They have a helpline and are very nice.
Also, whilst knowing that your baby will need open heart surgery is absolutely terrifying, please take heart in the fact that it is a very common defect. Most kids come out of hospital within a couple of weeks and recover very quickly.
We had a terrible time as Katarina had numerous rare complications and was in for two months, but she did get over it all and is now on time developmentally and completely healthy, she's not even on any medication any more and is gaining half a pound a week being exclusively breastfed.
We also have another little girl (ordinary kid - no fancy problems! :-) )who has just turned two.

It must seem like you're living a nightmare at the moment, but there really is a light at the end of the tunnel.
As for the Down's - well, it's an awful lot to get your head round and I'm still struggling with it, too. We give Katarina a lot of stimulation and attention, and it has really paid off so far.
She's a bright and demanding baby and I expect that in the future she will do all the things people do - you know, go to the same school as her big sister, get a job, get married, do whatever she wants. Maybe you will find some of the essays on this page helpful:
www.nas.com/downsyn/donations.html

I hope amidst all this you can manage to look forward a little bit to meeting your baby boy. I'm sure he'll be a real cutie.
Good luck for the labour!
Eva

2under2 - I'll let Tracey know that you've posted these messages, I'm not sure if she is still checking this board.
Thanks for your help, you sound like just the sort of person she needs to talk to!

Just to let those know who supported Traceyv when she logged on here - she gave birth on Tuesday to a 7lb baby boy called Ethan Joshua. He is doing fine, breathing on his own. He does have Downs but they are not sure how much he is affected by it yet. He is feeding normally and she will try to breastfeed him soon.
I'm sure she will be back on here soon!

That's wonderful news, Lisav. Please pass on my congratulations to mum and dad.

From Chairmum, now posting as Sue Donim!

Thanks for letting us know, Lisav, and please send congratulations to Tracey and her family form me.

Very droll, Chairmum!
That's great news, Lisav. All the best to Ethan and his parents.

Best wishes, Tracey and hello Ethan!

All the very best to Tracey and Ethan and the family.
It sounds like you're a great sister, Lisa.

Hello to you lovely ladies. I tried to start a new conversation but for some reason it wouldn't work Hope Tracey doesn't mind me piggy backing on to this one.

I live in New Zealand and at 30 weeks was diagnosed as having excess amniotic fluid (polyhydramnios). I had a follow up consultation today at the hospital and the consultant is pretty sure the reason I have excess amniotic fluid is a blockage in the bowel. She also thinks she can see a heart defect which wasn't picked up at the earlier scans. These are apparently clsssic signs of Down's Syndrome.

At 13 weeks I had the nuchal fold scan and this gave me a 1:21 risk that my baby has Down's Syndrome. I decided at the time not to have an amnio as I was sure I would not terminate purely for this reason. At 20 weeks I had the next scan which didn't pick up anything irregular.

I probably wouldn't have had another scan except for the high fluid levels were making me very uncomfortable. As I'm now 32 weeks I decided to have the amnio today - partly to confirm the diagnosis so that I can be absolutely sure what to expect, and partly to drain off some of the fluid to make me more comfortable.

I'm feeling reasonably philosophical about the Down's Syndorome diagnosis given that I have known after all for a while that there was a risk. TBH I'm more scared about the heart/bowel issues. Can anyone offer me advice support around this?

I have read a number of threads written by Mums with children who have DS and they have warmed my heart. I have a 5yo DD and I know her life (and mine) will be richer for having this beautiful baby girl. However I'm also an single Mum and know too that we will face challenges ahead which I'd like to be prepared for, so any advice on that front would also be much appreciated.

Apparently I should go back to the hospital in about 2 weeks and they will drain more fluid as that is likely to be an ongoing problem. They still want me to have a natural labour and to go full term etc. But I will also see a paedeatric surgeon before she's born to get a better idea of what to expect.

Thanks so much in advance - sorry this is so long!

Hi buzzybee! My youngest daughter has a heart condition (not diagnosed until 12 days old though). You will find a lot of support on Heartline.

Thanks for that. Hard to know where to turn - especially as I'm on the other side of the world from most of you guys.
They couldn't get a very clear close up of the heart through all the excess amniotic fluid so have yet to get an accurate picture of the defect.
Am trying to be brave but I know I'm going to go through a grieving process over the next few weeks.

buzzybee, do a search for eidsvold in Special Needs. Her DD1 has Down's and has had heart surgery, and she is in Australia (although I think DD1 was born here).

FWIW you sound as if you will be a wonderful mum to this little girl - good luck!

For some strange reason MN won't let me create a conversation on the Special Needs section. Anyone have any suggestions?? Have just realised this is actually a Health forum so may not be the best place to find people with the right knowledge.

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