Downs Syndrome

[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. We are thankful that the baby only has downs, 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?d be grateful for any information people have about these issues as we wait to see how the baby develops.

cbf - my friend's newborn child has Downs Syndrome and they also have a 2 year old son. They didn't know in advance about the baby's condition and so have had a very steep learning curve over the past few weeks, coupled with huge emotions and shock. Their little one also has heart problems and is scheduled for heart surgery soon.

She is the most delightful little baby, alert and interactive. Her older brother absolutely adores her, and is very gentle with her.

We're very fortunate because the Downs Syndrome Educational Trust is based down the road from us, so my friend has been able to go there and get lots of real help. She told me, for example, that children with DS are taught to read at a younger age than other children. Have a look at their site, it is full of information you may find helpful.

I think your community midwife needs a good slap, quite frankly.

I know none of this addresses your concerns directly, but I guess I am just trying to offer you some support ! If you post on the Special Needs boards, I know there are several ladies on here who are very knowledgeable on the subject - I hope they can help.

cbf - my friend's newborn child has Downs Syndrome and they also have a 2 year old son. They didn't know in advance about the baby's condition and so have had a very steep learning curve over the past few weeks, coupled with huge emotions and shock. Their little one also has heart problems and is scheduled for heart surgery soon.

She is the most delightful little baby, alert and interactive. Her older brother absolutely adores her, and is very gentle with her.

We're very fortunate because the Downs Syndrome Educational Trust is based down the road from us, so my friend has been able to go there and get lots of real help. She told me, for example, that children with DS are taught to read at a younger age than other children. Have a look at their site, it is full of information you may find helpful.

I think your community midwife needs a good slap, quite frankly.

I know none of this addresses your concerns directly, but I guess I am just trying to offer you some support ! If you post on the Special Needs boards, I know there are several ladies on here who are very knowledgeable on the subject - I hope they can help.

Congratulations on your pregnancy

No advice cbf but bumping this for you - it might be worth posting it in the Special Needs section too. Some of the mums don't venture on to other parts of the board.

My dd has heart problems that weren't diagnosed in pg. I haven't had experience of anomaly scans but assume that if you have it too early it won't be detailed enough? Although I would expect the commoner defects associated with DS may well be visible.

We are looked after by the paed cardios at Birmingham. Is that who you've been referred to?

Whoops, sorry for double posting!

cbf - apologies I don't have any info - just wanted to say that your post is very thoughtful and it sounds like you will be a fantastic mum to your new baby. I am sure that you will get some fab answers once the other posters with more experience and info see this.
Best wishes for the rest of your pregnancy.

My parents owned and ran a residential home for adults with learning disabilities for almost 25years before they retired.
They cared for several people with Downs Syndrome and provided a fantastic, caring and real 'home' for them.

Since my early teens I have worked voluntarily with children and adults who have Downs, Cerebal Palsy, Multiple Sclerosis, and differing levels of brain damage. with the right support, many lead independent lives, and even in their own homes in the community.

Don't let the medical profession deter you, give you doubts about your own judgement.

Abortion seems to be pushed by many as a way of not proiding each human being with similar care, just because an unborn child has a pre-diagnosed illness.

Put another way, any child can sufer an illness or accident in childhood which would render them dependent on a high level of care. It would not be reasonable for anyone to suggest euthanasia.

Your children may become responsible for your care in later life, but no-one would use that as a reason not to have a family.

Wishing you all the best for your family and new baby.

This article appeared in the Guardian yesterday, the last section might be of some help. Good luck with the rest of your pregnancy

cbf, big hugs to you!

I don't have any experience of DS but my new baby has got a heart condition that was identified at 3 days old. Its a long story but it was identified that she hasn't got a hole for her bottom (by me, not the doctors I hasten to add!) and so we were rushed to Southampton Neonatal hospital and she had to have an emergency colostomy and now has a stoma. Sorry, I'm rambling now! Anyway, when something like this happens, they check the heart, kidneys and spine as a matter of course. They scanned her heart very thoroughly both in the Neonatal unit and over in intensive care (they had a better scanning machine over there!). It really was like a normal scan except that they have a button for colours. They look at the blood flow which is indicated by red and blue - I think there's yellow too but I'm not sure what that represents...

Turns out, DD2 has got a few holes in her lower chambers and one hole in her upper chamber. Also, there's a tube that all babies have in the womb that is meant to grow over when they are born - this hasn't grown over for DD2 yet and she is now 5 weeks old but I've been told the surgery could have delayed it, as well as the fact that she was 3 weeks early. Apparently these can grow back by themselves but they want to keep an eye on them.

We've seen the paediatric cardiologists twice since then and both times they have said that she doesn't need treatment. They have done another two ecg's on her (lots of sticky things stuck on her) and also echo's (heart scan) and I have to say, it seems to take ages but they have to be thorough! I get all worried thinking, "surely they've seen what they need to see?" and "why is it taking so long" but I guess the heart is constantly moving so it must be difficult!? At the end of they day, the doctors have said that people live their whole lives with holes in their hearts, the issue isn't the hole, its the effect it has on the person. I have to watch out for DD2's breathing and have to report back to them if she gets breathless. The fact that babies breath very fast has had me worried a few times but I think she's ok.

When we were in the waiting room on one of our visits, I was chatting with a mum who told me that her little girl (now aged about 10 or 11) had heart surgery at 9 months old because she struggled with feeding. Now, she just has checkups every year and she looked fit and healthy!

I know how daunting it can all be and I'm still in shock myself to be honest but you'll get through it. Going by the way you sound, your baby will be so loved which is all that matters. Don't let those crappy midwifes scare you - I agree they need a slap!!

PLP xx

cbf, if you post this again in SN it might be worth saying in the title that you are looking for eidsvold in particular. There are several posters here with lovely children with DS but I know eidsvold's dd had heart problems that I am pretty sure were diagnosed in utero. She's doing absolutely fine now. Eidsvold is in Australia, so you will have to wait until she sees it though

cbf, congratulations on your pregnancy. Agree with the others who say that reposting your query on the SN board would mean it will be seen by other parents of children with DS, especially Eidsvold, as Tamum says
I can't really offer much advice except that for age-related reasons plus a preference for no invasive testing, we were offered a fetal echocardiogram at the Harris Birthright Centre at 21 weeks. We were told very clearly that any earlier than this and it can be hard to check the heart and other organs for soft markers etc. I think in your situation I'd want to know who was doing the earlier scans at the MUMS clinic - if it is the same regional fetal cardiologist you will see anyway a few weeks later, that might help you decide whether the fee is likely to be money well spent.
So very glad for you that your tests for Pataus and Edwards came back negative and good luck with the rest of your pregnancy

Thanks to all of you for posting so quickly, it's nice to have so much support so soon - I'm taking your advice and moving this over the SN group if anyone would like to follow me there.

Very best of luck with the rest of your pregnancy

Before I migrate to the other list, just wanted to wish PurpleLostPrincess and her daughter well.It sounds like you've been through a really rough time and I'm glad to hear she's doing well now. Just anecdotally (sp?) I've known a couple of people with holes in their heart and though they did have to have surgery eventually, they've both been just fine (one is 5 and one is 57)

Will also be thinking about your friend's baby littlelapintofbloodmwahaha and hope that her surgery goes well. I did speak to someone at the Downs Heart Group and she was quite helpful in giving me hope by telling me her story of her daughter who had surgery at 6 mos (also a hole in the heart). She said she was only in ICU over night and came home 4 days later. She's now 18 and doing very well. It's amazing what strength people who are so small have.

Also wanted to give a quick reply and thanks to saggarmakersbottomknocker too - we have been referred to the ped cardios at Birmingham for the 21 week scan and would welcome any advice or experience you feel you can share. The fetal medical specialist at mums (not a consultant at birm) did say that he might not be able to pick everything up that early but thought he should be able to look at areas that typically cause problems with DS (he's the one who picked up the problem in the first place) and had a good chance of picking up some of the more serious problems. Guess it's a matter of deciding whether to try and get more info (and hopefully some reassurance) earlier than 21 wks. - hoping that your daughter is doing well.

We decided not to even have the blood tests to see if we're high risk of downs because although it's good to be prepared, we'd love the baby either way. Though maybe not perfect in the socially accepted sense, the baby is still a baby, and is still a person to be loved and to love.
It's unfair for the health care 'professional' to say that the child would 'burden' your son. They will no doubt love one another and your son is young enough to get used to his life from an early age and perhaps see it as the norm. Should he chose not to live his life alongside the new baby, there are plenty of care homes.
I work at a tourist attraction, and carers bring people with downs here all the time. They have lovely, fulfilling days out and get treated very well, as you or I would expect to be treated.

Although I have no information on Downs that I can share, I feel so sorry that your baby has been refered to as a burden and this must be so heartbreaking for you. I wish you all the best and hope everything works out for you.

Bloody midwife what exactly was she implying - my H best friend is adoped his younger sister (not adopted) has severe learning disabilities...though he can be a bit of twat when you see hi with her you have no doubt that he absolutely adores her would do anything for her and I very much doubt views her as a burden in any way ......you sound ike great mum and I hope your LO is safe and sound

With regard to Down's syndrome does anyone know how good the 20 week scan is at picking up abnormalites that could be related to Down's? I missed out on having the blood tests as I was out of the country for a period of time, and had been told by the midwife that the results would have come back high purely based on my age, so just wondered if there was a problem would it have been picked up on the scan?

I am afraid I haven't any experience with DS, but my best friends older sis has very severe learning difficulties (still on the level of a 4-year-old) due to malpractice. They obviously love each other to bits, and big sis is never considered to be a burden. Potential partners for my friend were however scared off by the prospect of having to look after her for eternity (that is some men for you). Now that their parents are elderly my friend became big sis's (and parents') main carer and power of attorney, while working full time in a hectic job. It is a big responsibility, but she always knew it and prepared for it. Sorry if it is not such a happy story. I am just incredibly honoured to be her friend.

Hi cbf,

My ds2 has just turned one and has Downs. He was born at 29weeks and needed an operation for duodenal atresia (I still can't spell correctly!). He was also born with three small holes in his heart but not the congential heart defect normally associated with Downs.

We also have ds1 who is 4. He is very good with ds2 and doesn't realise that he is any different from any other baby which is remarkable given than his best friend has twin brothers who are about three months younger than ds2 but far more mobile.

We had no idea that ds2 had Downs and the whole birth was very fraught. My main concern was obviously with ds2 health but after that, in the wee small hours sitting next to his incubator, I did start to worry about the legacy that we would be leaving ds1.

We resolved to try and give both our boys the best life possible ( as all parents do) and especially to try and leave them both as financially secure as possible as we don't want ds1 to have a financial burden should anything happen to us.

We have spoken to parents of older children and young adults with Downs and there does seem to be a lot of help and support available and the general consensus is that children with Downs go on to lead happy and productive lives.

Sorry if it's a bit long winded and I know that you can't help but worry but try not to worry about things that haven't happened yet. You never know, your new baby may end up looking after ds1!

The way I think of any children with special needs is that we never know what is round the corner. My youngest of 3 has special needs (genetic condition, called Sotos syndrome - causes overgrowth and delayed development). Not diagnosed until she was nearly 3 (she is now nearly 6) and, yes, she has struggled in the past, it has been hard on her elder siblings (now nearly 15 and nearly 11) but we would not be without her, and nor would they.

Okay, they were older when she was born (daughter was nearly 9 and son nearly 5) but they have still had to put up with the numerous hospital appointments in trying to find out what was wrong.

With any genetic condition, you can read as much as you like to be informed but no-one can predict the long term outcome.

Some children with Sotos syndrome never catch up and are still in nappies at 21! When my DD was first diagnosed, I read everything I could because I, incorrectly, thought fore-warned was fore-armed (and I spent many hours/days in tears thinking about what her future may be) but my DD, although still slightly behind, goes to mainstream school, is dry and clean both day and night, is sociable (children with Sotos are normally not sociable) and is an absolute delight.

Me and my husband split when she was 11 weeks old (not due to her).

Because she is still only 5 we do not know what the long term future holds for her, but as long as she can be the best that she can (and the amount of help and support that she receives from her family, friends, outside influences - speech and learning therapy, occupational therapy, physiotherapy - is unsurmountable), whatever is thrown at her and us (as her family) we will take in our stride.

She may (or may not) grow up to lead an independent life but we will cross that bridge when we come to it.

Unfortunately, Sotos syndrome (a genetic condition like Down Syndrome) is not detectable before birth but there are many conditions, a lot worse than Sotos Syndrome or Downs Syndrome and, even if Sotos was detectable before birth, I would still be where I am right now - a single mother to 3 children (although my biggest issue is that I have just turned 40!!!) - that is worse than having any children with special needs.

My eldest daughter (nearly 15) was 9 when Sasha was born and was nearly 12 when Sasha was diagnosed. Obviously, on first hearing the diagnosis and reading all the stories about these children, I spent many days/hours upset at what the future might hold for me and my family but my eldest daughter said she was quite glad that Sasha had Sotos as it made her who and what she was (tantrums, special needs, delayed development et al) and the diagnosis did not change who Sasha was. As long as Sasha can be the best she can (whatever that may be) then we should be grateful for the little ray of sunshine that she brings into our life and my eldest said she would not change her for the world.

My eldest said that the day before the diagnosis to the day I got the diagnosis that Sasha was still the person she was the day before I got the diagnosis - the only difference to Sasha was that she now had a "name" for her difference.

She told me I should not lose sight of Sasha because she was still the same person, diagnosis or not.

Sorry if I have rambled but I never thought I would have a child with special needs but we all deal with what we are put up against and she is the most adorable little girl and she just makes me smile.

I never think that she will be a "burden" to her older brother or sister because, from a young age, they have known Sasha for who and what she is (good and bad).