Downs Syndrome/Heart Concerns

[cbf]

This is my first post and I?m hoping for some help and advice from people with experience of DS in pregnancy and beyond. I'm 44 and 14 wks preg and received the results of a CVS a week ago confirming that the baby has DS. Being older parents we were aware of the statistics and weren't planning on having any invasive tests, but the results of our 12 week scan revealed not only a 5.5mm nuchal fold but indications of a heart problem resulting not only in a 1 in 2 ratio for Downs, but a 1 in 5 for Edwards and Patau and we were told it was best to know what we were dealing with. We are hopeful now we know it's Downs that there won't be any further problems, though we are quite frightened by the possible heart problems and won't know for another month or two the extent of it. Anyway, sorry for the rambly intro, but this is all new to us. We have 2 questions at the moment that we are trying to get some help with. 1. Does anyone have any experience of heart scans before 21 weeks? We have been referred to a pediatric cardiologist but they won't do the scan until then. There is a local private clinic (MUMS in the midlands if anyone knows it) who offer cardiac scans as early as 17-18 weeks. Has anyone done anything like this? 2. While our first concern is for the immediate health of the baby, we are also concerned about the long term prospects for the baby and his/her sibling (we have a son who is 2). In the usual tactful way that I'm finding that the health care profession "helps" people at such times, two of the midwives have felt the need to emphasise that we are not exactly young parents (42 & 44) and that we have to think of our son because the baby will be his "burden" when we are too old to care for him/her and/or when we are gone. I know from the whirlwind tour of the DSA site that many people with downs lead independent lives and the wonderful person at the DSA helpline said that legally speaking our son won?t have to have any responsibility for taking care of the baby (by then hopefully an adult) unless he wants to (though when I pointed this out to our community midwife she said that of course he would want to, implying that it was a bad thing that would burden him for the rest of his life!). Sorry again for the rambling rant, but as you can imagine all this is quite upsetting. What I?m wondering is if anyone has experience of assisted care/living for people with Downs and what these places are like. It?s easy to imagine the worst case scenario of old fashioned institutions, but I?m sure (hopefully) that this isn?t the case and that the options for people who can?t support themselves are not so bleak that our son does feel ?burdened? by the need to keep his sibling out of a horrible situation if s/he can?t take care of himself after we?re gone. We have been skimming through some of the posts from people with young children who have Downs and this has helped us tremendously, but we?d also be grateful for any information people have about adult care and heart scanning issues as we wait to see how the baby develops. (note: I posted this early in the pregnancy discussion and someone suggested that there might be more help here, so sorry for any repeats if people visit both spaces)

link to your earlier thread for you cbf, so that people can see what's already been suggested.
Hope you get someone along soon, it can be quite quiet on here during the day at weekends

Congratulations on your pregnancy.

You sound like a very thoughtful parent.

I would try to ask yourselves what you want from the fetal cardiac scan.

Do you want to know if your dc has one of the cardiac problems that are commmonly associated with Downs Syndrome and are usually correctable by surgery?

Do you want to know beyond a shadow of a doubt if the dc's heart is anatomically normal?

Do you want to know if your dc has a cardiac problem that is likely to be incompatabile with life, very rare?

What would your actions be depending upon the results to these hypothetical questions?
Would you continue with the pregnancy no matter what or might you consider ending it in certain circumstances?

I think that if you want to know the answer to my first question and would continue the pregnancy regardless then perhaps the private scan would be worth it. I think that if you want to know anymore or feel that you may act depending upon the scan results then you should wait until 21 weeks though I appreciate how hard that might be.

I used to think that I would terminate a pregnancy for DS alone iyswim but I really don't think I would anymore though I might terminate if I really felt that the child, with any underlying problem, would have a terrible quality of life.

I think that you are right to consider the needs of your existing ds but also consider how his sibling may enrich his life.

Hiya

I don't have any experience of having a child with Dows Syndrome (I do have two SASD children though, which is why I am on SN)

I do however have some idea of how you feel- ds3 was also high risk and we decided not to have any further tests and wait until the big day to find out. This time around (I am also 14 weeks pg) we're not having tests, imo they're alrgely pointless for us- our risk of a chromosomal disorder is virtually negligible compared to our risk of another child with Autism after all, and we cannot tests for that

Somebody like Eidsvold or Thomcat may see this later,m but Eidsvold keeps antipodean hours so she may not be around until tonight. If you want ay support re the not knowing bit though, from the last PG with DS or this one with the ASD, do feel free to e-mail- I remember last time around, it was Helish at points and really scary, and we were under a lot of rpessure from MW to have tests we just didn't want. This time around, the tests for ASd don't exist, which si probably a good thing as termination for us would be a no-no.

My e-mail is [email protected], and I wish you all the best XX

(type- peachesandcream04 LOL)

as others have said - you are probably looking for me.

This will be long and I have had a long day so please bear with me.I will deal with the cardiac stuff first and then the family/sibling issue.

At 20 weeks in utero we learnt that dd1 had down syndrome and a congenital heart defect. Our fetal cardiac scans confirmed that dd1 had what is called a complete AVSD (Atrioventricular Septal Defect).

info here

It is the most common type of heart defect found among children with down syndrome (DS).

We had our fetal cardiac scans at the Harris Birthright Trust - fabulous fetal cardiologist. We had a couple of fetal cardiac scans along with further anomaly scans - at the birthright trust they were fab.

Most hospitals now have a protocol for children who are born at the hospital with down syndrome and one of those is cardiac checks prior to their discharge.

When dd1 was born she spent three weeks in SCBU and then at 8 weeks old had two open heart surgeries to repair this defect. If you look at my profile - pics of dd1 as a babe and then as a 5yo.

She was on medication up to her surgery time nad then for a time afterwards. SHe had surgery in Sept, left hospital 3 weeks later ( due to a stormy recovery period - which is not usual) and she was fine.

We were originally told that she would possibly need further surgery as a teenager on the leaky valve as she still has a mild leak. At her annual check up this year her cardiologist said it looks like no further surgery.

To look at dd1 unless you saw the scar - you would never know. She is very healthy active monkey.

As to help - on the link I posted previous you will not that it is for the Downs Heart Group - they were a fabulous support with information and phone support.

You said you had made contact with the Down syndrome association in the UK. As to adulthood - we have a large active group of young adults - a few couples have married and are living largely independant lives - have their own places to live, jobs etc.

Right as to the sibling issue - BURDERN MY ARSE. Okay I feel better for that now. Those medical professionals are terribly out of date.

My dd1 is a dd1 - I have two other dds - one who is 3 and one who is 6 months old. The 3yo adores her older sister and it is fabulous - they have the usual sibling squabbles but they really are good friends as well as great sisters. Dd2 thinks everything dd1 does she will do to.

We never intended dd1 to be an only child. There was never and will never be any pressure put on our other children to 'care' for dd1 - any more than they look out for each other and care for them.

How your ds deals with this will be up to you - if he is encouraged to give measure for your baby or encouraged to see your new babe as a burden - he will. If you treat your new babe as one of the family and each member is celebrated for the gifts that they bring to the family then your existing child will have this attitude.

At 5 - our dd1 is off to mainstream school next year. At present she attends both mainstream kindergarten and a special needs unit. She takes swimming lessons once a week, attends therapy. For dd2 going along to therapy is what we do - she goes to do her 'words' ( speech therapy) and 'play' (physio) just as dd1 does.

Dd1 adores our new babe and vice versa - dd3's little face lights up when dd1 chats to her.

what else can I tell you??? If you want to email me at eidsvoldsn at yahoo dot com dot au - you are more than welcome.

If your midwife has that attitude and you are not comfortable about it - seek out another midwife - you want people who are supportive and positive not hanging onto outdated opinions - cause that is what they are.

This is very long - sorry to have gone on but I hope it helps and answers some of your questions.

Thanks to everyone for their advice and support as well as kind offers to email off site. It's good to hear that despite such challenges in early life that young people manage to come through it and thrive. Will continue to pursue leads and get as much info as possible (the reasons for wanting to do the scans is to know as much as we can to help the baby as much as we can not only during and after birth, but also while s/he is still in utero if this is possible). We certainly don't see the child as a burden and would never encourage our son to view him/her this way (the comment was the midwives' not mine). Again the reason for wanting more info on adult needs/assisted care is to gain more understanding and help to prepare to do the best for our dcs we can, not only in childhood but also in adulthood. Anyway, thanks again for your help and support - I'm sure it's not surprising, but I've found people on line and at the DSA and Downs Heart Group to not only be more supportive, but more informed than the healthcare "professionals" I've come across so far (I'm sure things will be better at the Birmingham Ped. Cardiology).

cbf - that arse comment was not to you but to the midwife who had made the comment about burden - sorry you misinterpreted it as directed to you. I could see from your post that it would not be the case.

hi cbf
i don't come on here all that much but if you search on my name you will see that in june I found out at 22 weeks that my baby had a heart defect whcih may have indicated downs, edwards or pateus. At that point I considered that I would not have terminated a downs baby or a non-serious heart defect. Later we foudn out that she had a univentricular heart which was not related to a chromosonal problem.

due to the seriousness of this defect we terminated at 25 weeks on 5 July. We also have two other children. I had to make this decision for the unborn baby and did not want to make a decision based on 'convenience' for other members of my family. if she had had downs I felt that it is a common enough condition to have good support groups and schools/clubs etc that we would not have been isolated. We are also (whilst not rich) comfortably off and I would have set up a trust for her to live as independently as possible. As it turned out this was all theory so I have no idea what we would have decided if that had been the issue. I guess I would have still terminated the pregnancy if the baby had had severe heart defect and downs.

I feel that it is important for my kids to know and accept other people who may be different to them. I hope they will have compassion for others.

If you would like to contact someone who has been on a similar if slightly different rollercoaster to you feel free to cat me.
take care. x i can get on web on mons/tues so might not reply immediately.