Here some suggested organisations that offer expert advice on SN.
Chromosome 9q34 duplication(13 Posts)
My son is 9 months old and we have just had a diagnosis for a duplication on his 9q chromosome, I have no idea what this means but this is what we were told it is 'arr[GRCH37]9q34.2q34.3(137196129_141213431)' I'm sure you can see why I find it so confusing!! I am honestly finding this impossible to cope with, like because I haven't heard of anyone else with this I have no clue about my sons prospects, I don't even know if he'll live!! He can roll but but that is literally all he can do, he would happily lie on his baby gym all day and play on there, and when I try to sit him up he goes ridgid and pushes back, he doesn't pull up and he doesn't show any sign of pushing up to crawl. The dr we saw said she'd see us in a few months once she'd had a chance to look at what genes have been affected and therefore will hopefully be able to give us more of a long term plan but I'm petrified. Now when I look at him I see a disabled baby, I hate myself for it but I just feel fear towards him at the moment. I don't think anyone expects to care for a severely disabled person for their whole life but I genuinely don't think I'm strong enough. He has already had two heart surgeries to help with his aortic stenosis and that broke me each time, I don't think I can cope seeing him get older and realising how different he is to everyone. Maybe he won't see that though? Maybe he'll be too disabled and not be self aware?
When you have a baby you think of all the normal things you'll experience with them like pushing them on a swing, family holidays, helping them with homework, watching them play football, even gaining grandchildren from them. I imagine I won't experience any of this with my son now. I feel so nasty for reacting like this but I don't know how to be positive.
You're in shock and need to adjust. Go easy on yourself
Your reactions are totally normal and understandable. It is like a grieving process for the child you thought you had.
Have you been in contact with Unique? They are very helpful and can put in your touch with families with children with the same genetic deletion. It might be worth seeing if there is a Facebook group as well, it always helps to get in touch with parents in the same situation.
This is probably the hardest time while you adjust to the new reality. It does get easier.
Of course you feel all of those things. It is totally natural to be shocked and scared.
Have you been referred to Portage (sometimes called preschool home visiting)?
They can be your gateway to information and support as well as giving you practical advice on developmental activities for your little boy.
I'm in the process of joining unique and I read their information leaflet on similar disorders, think that's what's upset me as I know it means our life is going to be so very different now. I'll have to look into portage, ive not heard of them but I guess it's only been a few days!
Do ask about portage OP.
You find a way to process all this.
You will amaze yourself.
Do you have a children's hospice in your area? They are very different from adult ones so please don't think I am suggesting them for scary reasons. They provide all kinds of services to children with complex needs. Many of them run music and therapy groups, have outreach and parent groups.
I think I've contacted portage (if I've found the right email!!)
I don't want to use the facilities of a hospice if there is more deserving and more ill children, I guess I think of them being places for very ill people so think I'd feel awkward showing up with my son who at the moment looks perfectly well, just comes across as lazy!
It's very early still and you are also not aware of the implications. It gets easier but the ache never goes away. But you find other things to find joy in. When he starts to pull up, even if it's at 18 months, you will be overjoyed. Very small things are so important with SN children.
I'd say get help with physio and OT and things like hydrotherapy. Get together with parents in a similar situation. Parents with 'normal' children just never get it but you will always have someone to talk to. FB has lots of support groups.
It does get better and you will have so much pleasure from your child. Life will be different but it won't be a disaster.
mummy children's hospices don't work like that but of course you should wait if you are not ready to think about them. I don't want to push you.
Your little boy wouldn't be accepted for services if he didn't meet the criteria so you wouldn't be taking a place from someone else.
I know it probably sounds like an odd thing to suggest if you are not really aware of children's services but do store it away for another time. I promise I am not suggesting that your child is very sick.
Mummy bear how are you doing?
I am in a similar situation as my 3 month old has a rare chromosome deletion. She was diagnosed at 2 weeks old and I was and still am to a certain extent shocked and devestated. I have found antidepressants and some councilling has helped me through these early months but I have to admit to wanting to run away alot. I feel like I want to rewind time and for it not to be real. I also think actually doing something helps, like physio etc. It at least gives you hope and something positive to focus on. Be kind to yourself. It is so hard. X
Oh ditsygal I hope you're ok? I think I need to find a local group for children and babies with additional needs as I find the normal ones soul destroying, no matter how kind everyone is! I think I'll feel so much better once I've met real parents and seen how they continue and live life to the full.
Just dropping into this thread - my one year old also has a rare chromosome deletion (inherited from me, and i have no signs of it)....he is delayed in all area of development and we have no idea what the future will hold (and nor does anyone else!). Its so overwhelming.We are lucky in that he is getting great support on the NHS, through nursery, and some private support - so please make sure you get everything you are able to - there is lots out there.
Please do not feel guilty or ashamed. Your feelings are perfectly natural. Give yourself time to grieve for the son you imagined and all the hopes and dreams you had for his future. Our son too was diagnosed with 9q34 duplication so I know exactly what you are going through. He is now 20 months old. It's a very rare condition but please know that you are not alone. We were given a booklet from
Unique and left to get on with it. If only it were that easy! I experienced the same emotions as you are going through. I could barely take care of myself let alone my disabled child. It will take time but you are strong enough and, when you realise that, you will come out fighting for your son. It's been a battle but we now have physio, speech and language therapy, occupational therapy and portage for our son. He is so determined and amazes us every day. We have also joined some local support groups although I have not yet found anyone with a child with the same condition. I know I'm a complete stranger but if I can be of any help whatsoever during this difficult time, I will do all I can.
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