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Here some suggested organisations that offer expert advice on SN.

here goes, we have a dx

(17 Posts)
Sleepstarved Tue 25-Sep-12 15:36:24

DD is 19mo, not quite walking alone yet and not talking.
No other obvious problems, some odd movements but not serious, play thought to be age appropriate.
She has a partial chromosome duplication which is the cause of the delays and a brain abnormality that has shown up on MRI.
All this has happened v fast with lots of info to absorb v quickly.
I found out I was pregnant so it was all fast forwarded. Bloods show chromo not inherited so risk in current preg is low but we will obviously be having barrage of tests.
Have known for a month or so but been in denial and upset so only just finding strength to post now.
So, here we are, in the world of SN.
DD on waiting list for NHS SALT, been getting physio for a year already, portage started at 12 months.
Am so upset for what this means for her life but also worried about what sibling will mean, will I be able to give her the attention and help she needs with a new one in tow, will new one be normal (I know intellectually, chance of recurrance is as low as for anyone else but when something's gone wrong once, I can't believe it won't happen again).
Feel like I've been hit by a truck.

Firsttimer7259 Tue 25-Sep-12 17:25:07

Hi sleepstarved - sounds like you've been through the wringer recently. Try to take comfort in that its not obviously hereditary and in the fact that after some time your new life will come together in some way. It does take time, and lots of it, to absorb and whats happened, but eventually it does somehow fall ino some kind of pattern again (in terms of that you can see the outlines of a new life emerging and you can somehow think OK this is where we are)
Ive found lots of info and support on here and I hope you do to.

Things I found helpful - and still do are: http://www.our-kids.org/Archives/Holland.html and http://niederfamily.blogspot.co.uk/2010/10/amsterdam-international.html

Im still v early in the journey on with an undiagnosed DD (2.8) with GDD. Theres a huge bunch of anagrams to learn but it does get better than you are feeling right now. Big hug

Firsttimer7259 Tue 25-Sep-12 17:26:01

Er not anagrams, acronyms. Doh!

madwomanintheattic Tue 25-Sep-12 17:38:54

Have you got details of the specific duplication, sleep? Have you been in touch with Unique or Contact a Family to find out if there is an established/ common support group?

<hug>

Good news that current pg is likely to be unaffected <I didn't know - congratulations!> but you will of course worry all the time. Perfectly natural. Dh and I copped out and he had a vasectomy 3 mos after dd2 was born, as we didn't know if issues were genetic etc. so kudos for having the strength to get this far xxx they will keep a really close eye, but it won't stop you fretting. Don't worry about the time for dd1 - life is life, and we squeeze it all in. smile

Is the brain abnormality a structural difference, or an area of damage?

All of this new info and hormones to boot - no wonder you feel like you've been hit by a truck. As ever, be kind to yourself first and foremost, and if you need to hibernate, just do it. Processing all this will be exhausting. Any chance of getting some counselling whilst you are especially vulnerable? Do you think a rl 'place to talk' would be beneficial?

You know where we are xxx

mariamma Tue 25-Sep-12 20:13:06

The diagnosis month is horrific. After that, things usually feel much better. If your dd is (say) 6m or 9m behind average, you will cope with her and minibabe, life will be a bit like having a 1 year gap between dc. Which is challenging in sone ways but avoids things like jealousy issues, combining potty training with newborn nights etc.

Here's a few tips

coff33pot Tue 25-Sep-12 23:12:42

Hard I know but try to look at it that you have a chance to put early intervention in place now which will decrease the added pressure on you for her school years.

Also not everyone constructively has their future mapped out for them so try not to think too far ahead and just one day at a time. Set yourself little measurable targets for you and her to attempt with your support but only a couple at a time so you both don't end up stressed and confused.

But right now just relax and be kind to YOU x

coff33pot Tue 25-Sep-12 23:37:53

Hard I know but try to look at it that you have a chance to put early intervention in place now which will decrease the added pressure on you for her school years.

Also not everyone constructively has their future mapped out for them so try not to think too far ahead and just one day at a time. Set yourself little measurable targets for you and her to attempt with your support but only a couple at a time so you both don't end up stressed and confused.

But right now just relax and be kind to YOU x

coff33pot Tue 25-Sep-12 23:39:17

Haha! See you have to be kind to yourself twice as much lol grin

Sleepstarved Wed 26-Sep-12 08:04:07

Thank you everyone for your kind words.
We do know the chromo involved and it seems other cases are confined to delay of varying degree so there shouldn't be any horrific medical issues coming.
There is a support group for the structural brain abnormality but that can vary from completely unaffected by it to very severe intellectual impairment.
I do know a couple of people in rl who have kids with chromo problems but I haven't talked to them yet although both would be fab, I know it.
I also have a close group of friends nearby and work have been fab with not counting days off for tests ect as holiday.
The docs have also been amazing, we have quite a big team already, developmental paed, neuro paed, geneticist, physio, portage and hopefully salt soon too.
I have a brilliant community midwife ( called her at midnight when DD was a few days old and wouldn't settle and she offered to come over!), consultant sonographer is arranging lots of extra tests and scans ect.
So I feel well supported and the SN board is so lovely too, it reminds me we are not alone but also in th scheme of things we are not that badly off either.
I feel a bit sad that I am not excited about this preg although it was very much wanted and planned. I think it's important that DD is not an only child, especially now.
But I can't help thinking that we will find something wrong.
God have written an essay, sorry!

madwomanintheattic Thu 27-Sep-12 03:35:40

I think an essay is perfect - allows you to take stock as well.

Re not being excited - it's just a survival mechanism - your body doesn't want you to be excited just in case - self preservation. It probably won't completely go away, but I bet that you will feel easier and easier the more tests are done that come back fine. So don't feel guilty about not being excited - it's just your self protection mechanism x

How lovely though. When are you due?

hazeyjane Thu 27-Sep-12 03:59:45

Sleepstarved, first of all congratulations on your pg.

Secondly, my goodness, what a huge amount you have had to take in! I know from all your previous threads that you have had worries and doubt about dd for a long time, but it must still have come as a huge shock to get a diagnosis.

The positives are that you already have so much support in place, and you are already on the huge learning curve that is fighting for support in the world of sn. Dd is lucky to have a mum who is on the ball, and fighting for her.

Ds is our 3rd child, and I am so glad that he has his sisters, they adore each other, and are probably his best therapists. Now he is walking, he follows them around the house constantly, and he is good for them, they look out for him and take the time to play with him, and help him up when he falls,and i know that things will be more difficult for them as they grow up, but I am so glad they have got each other. I have a 1 year gap between dd1 and 2, and it was pretty hard (especially as dd1 wasn't walking when i had dd2, and she didn't walk until 21 months!) but not half as bad as everyone said it would be, and they are now so close, they really are best friends (obviously there are times when they have to be put in seperate rooms before they kill each other!)

It is very tough to not be able to enjoy your pregnancy, but you just have to be kind to yourself, and take it easy, counselling does sound like it might be a good idea - a place to offload (of course you always have mumsnet sn boards as well). I found pregnancy hell all 3 times, but it kind of made the newborn days feel easier!

Your dd sounds as though she is doing so well, and you are doing so well too.There I have written an essay too!! Look after yourself.

dev9aug Thu 27-Sep-12 08:12:02

I agree with others, the dx month is horrific. We had ASD dx for ds1 in the middle of ds2 pregnancy and we were heartbroken, but fast forward a year, DS1 is doing well and ds2's smiles are wonderful and keep us sane on the harder days. we are happier than we ever imagined would be. Sure there is a long hard road ahead, but don't forget to enjoy what you do have now, we did forget and bitterly regret it now.

Sleepstarved Thu 27-Sep-12 16:28:13

madwoman end of March am due, god that sounds real, never written it down before. It is a sense of 'don't get too attached, just in case' feeling.
Hopefully when I get some kicks and more tests under our belt, as you say, the excitement will creep in.

hazey, we always wanted two but it became a bit more important as DD's problems became clear. Neuro paed said a second (who was NT) would bring her on. Am just crossing everything that DC2 will be NT. I'd like them to be as close as your's are, sounds lovely, and I know they'll need each other as they grow up.

dev, thanks for the reminder, we have had a good week so far. Just back from hols so portage has started again and she said she was really impressed with progress, especially understanding of language (which has to come before speaking doesn't it) and physio says DD is a different child - so much more confident in her movement and doesn't want to see her again until she has been walking for six weeks. Says she will walk way before she's two and that is within normal limits.

madwomanintheattic Sun 30-Sep-12 19:43:45

Aw, baby for spring! How lovely!

Dd sounds like she's on fire as well. Dd2 made huge developmental leaps right up until four, so she sounds like she's doing brilliantly x

mymatemax Sun 30-Sep-12 20:06:32

Be kind to yourself, dx can be anawful time no matter how hard you've been looking for answers.
Allow yourself to cry & dont feel guilty, its ok & normal.
Your dd sounds wonderful & im sure she'll be a great big sister.
My ds1 jusr sees ds2 as an annoying little brother, he moans about alot of things but never his sn, thats just a part of him & a very small part of their relationship.
They help veach other in different ways.
Take care x

beautifulgirls Sun 30-Sep-12 21:42:12

Have you checked for groups online for people with similar chromosomal issues. My DD1 has a small deletion and I have been pleased to find groups on facebook where people can chat and compare their stories of the same deletion/duplication. I don't know what your DD has by my DD has 16p11.2 deletion. There may be others out there that you are yet to find who can help support you.

Sleepstarved Tue 02-Oct-12 14:58:02

The thing with online support groups ect is that DD's specific duplication is very rare. Most online info ect doesn't match her and refers to more serious full duplications so can be a depressing and a bit frightening.
I am finding it more helpful to talk to other people with the kids with the same symptoms, which is speech delay and a bit of gross motor delay.
As her physio said the actual dx doesn't really matter, you just deal with what's in front of you.
BTW, nursery said DD walked three or four steps between the teachers today, about four times! She has careered between me and DH before but we haven't tried it for a while.
I don't really think it counts as walking until she voluntarily lets go of something and walks but that has cheered me up when I'm lying in bed with stinking cold and builders hammering away downstairs. (grin)

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