Needing a hand hold/virtual hug.......or something! Chromosome 16 deletion

[InsomniaQueen]

Hi all - it's been a long time since I've been on MN. DD has very recently been diagnosed with a chromosome 16 deletion. There are 2 other documented cases that our geneticist can find and so whatever it is, has no name and very little background information.

Our little one has a number of issues but basically all of them relate to this deletion, we just never realised it until now. Up to that point we were simply treating things as they arose. I feel like I'm grieving at the moment - going between anger, bitterness, disbelief, confusion. I can't seem to get my head around it at all. I have lots of people around but it is so hard trying to explain to someone who child has zero challenges that actually this is a lot harder than I ever thought it would be.

I had a feeling around 12 months that she wasn't quite the same as the other children her age and through arguing, pushing and generally fighting with the system we have made it here. But now I'm scared because I don't know if I have any fight left in me. I feel like a total bitch because after reading some of the other threads I know that we have very few challenges compared to others and I keep being told how lucky we are because it could have been 'worse'. Right now though I want to shout at those people telling me how lucky I am - I can't sleep at night because as soon as I start to drift off I think about it and I start worrying all over again about what the future will hold for DD. We had hoped for other children but as it became obvious that something wasn't 'right' we put it off as we wanted to get DD sorted before we had another. Now we won't be having a second as we both work full time (DH is away a lot with work) and struggle to meet DD's needs. Not having a second child is also a blow to me as I have a loft filled with baby things which I kept in preparation and now don't have the heart to clear it all out on top of all this.

I used to be a very capable woman but now I feel like everything is getting on top of me and I'm worried for DD, at my most irrational I keep thinking how sad I am for her that she has me for a mother. Maybe someone made a mistake giving her to me......maybe if she had a better mother things would be easier for her as they might know what to do or how to help.

Sorry for going on - just so much bottled up inside and no one to talk to really who understands how devastated I am. I am trying hard to keep up a brave face and give the "I'm fine" reply but it's not as easy as it was before we found out what was going on with her.

Thanks for listening.

Really feel for you, I have no advice but you have come to the right place for support with general day to day stuff!

Can you tell us a bit about your daughter and her difficulties and we might be able to offer some ideas.

I guess with her deletion being so rare you wont be able to find a support group but there are people on here with children with all kinds of difficulties so maybe you could find a place where you can get helo and advice.

Stick around and good luck

are you registered with Unique?

in terms of having another child (seems you are still somehow thinking about it), have you has genetic counseling or testing for yourself and DH? my DC has a deletion and DH and I were tested if we were carriers (and thus how likely it is to have another child with the same condition).

Thanks for the replies!

Ineed she has a global delay - speech, language and motor. There were a few other problems (stacked toes, weak ankles, a small VSD, sleep apnoea, glue ear, constant adenoid/sinus infections) but either through surgery or physio or OT a lot of those have improved. Not gone away but we can make the right allowances to get her through. Like I said these are not nearly as serious as the things others are dealing with here which is why I was hesitant to post here but I hope people can be gentle with me.

choc yes we have forwarded our details to unique but as she is basically 'unique' they can give us some general chromosome 16 details but not much on her specifically. Her details and development will monitored by her geneticist and unique so that other families in the future will have more information. We have had additional tests done for genetic counselling - so that my siblings have an idea just in case they might be affected by the same thing.

Because her problems aren't that bad everyone kept saying "she is fine" and basically that we were hysterical parents - oh and also because we only had one child we didn't really understand that different children develop differently. It was so hard to stick to our guns in the face of all that but now I have proof that I wasn't making it up!

I had to leave my last job because my boss changed and I went from having all the support I could hope for to basically being belittled at every turn. If I'm honest I was bullied out of that job because of having to attend hospital appointments and look after little one when she had medical issues like heart palpitations etc as we have no family close. With hubby being away as well a lot over that time I was barely keeping it together - working evenings and weekends to keep up with work and being treated as if I was making excuses for not being there. Like following her adenoid surgery when she had an unexpected bleed and I wasn't at work that day and didn't think to call them.......holding my precious child in my arms and watching blood pouring from her mouth - my first thought apparently should have been to let work know I wasn't going to be in as they needed something done. One of my colleagues suggested that "if I couldn't handle it" I should quit.

With our jobs being so full on, constant insomnia and hubby being away more than he is home, at times I really struggle to get the basics done let alone her physio, OT, speech therapy etc which needs to be done every night so has to be squeezed in between getting home and bed time which is around an hour and because of her facial muscle issues she is a very slow eater. I feel so overwhelmed with it all which makes me feel so bloody awful, selfish and self centred because I know that many other parents have so many more struggles really this isn't that bad......but right now it feels like a mountain to climb.

My sons and dh have a unique duplication. Unique is a great help. Even if you never find anyone with your deletion your no longer alone. The FB page is great. Also search to see if there is 16 FB page.

Your not a bad mum! I'm far from perfect - far, far from it but I'm the best I can be when I can muster it up.

I had a coperate job but I decided to take a career break after maternity finished.

I'm selfish as I have four kids. I knew it wasn't the sensible thing. But this my life too. I wanted more so that's what I did. I didn't know until pg with my last that it was genetic. That might have stopped me from having my fourth. I don't know as it wasn't a factor at the time.

There's always someone worse off than you, please don't let that invalidate your problems.

Everyone on here has their issues but its all relative isnt it!
We all struggle at times and come on here for support, a rant or a shoulder to cry on!

Even with a common diagnosis such as Autism every child comes with their own individual difficulties and strengths!

Coming on here, you can say what you like, no one will judge you, we only support and try to understand!

Your old job and the people there sound horrific to me and I am glad that you were able to escape!

Its easy to say but try to be kind to yourself, your daughter needs you well and not exhausted, you dont need to be a perfect parent just good enough for your daughter, which it sounds like you are doing a great job of!

Seriously, keep coming on here and read some of the other posts, we are all in the same boat, whatever the diagnosis we are all fighting battles!

Stick here - we don't play top trumps or bingo on these boards!
Your difficulties are real to you and DD and any support we can give is always there.

Your old job sound horrific

I second Ineed is there anything specific re DD we can support you with?

Thank you all - so much!! You have no idea how much your words have comforted me and pulled me down from the ceiling made me feel better.

Really for DD I need ideas for speech therapy activities.......we struggle to play the suggested games (lotto games etc) because she doesn't really have the ability to concentrate for long enough (not sure if this is her age or part of the diagnosis). It would be great if we could do some fun things together which help her work her facial muscles and to start getting her 'up' on things like colours, letters, numbers. Facing school next September with her being held back 6 months from starting pre-school is making me nervous about how she will cope when she had to learn things quickly and how/whether she will keep up.

Can she match objects insomnia?
Can she make choices from pictures or objects?

If she can then maybe you could make a really simple version of loto with only 2 pictures to begin with!

Invested in a laminator and start making your own using pictures of her favourite things to motivate her. If you look on google images you can find pictures of everything from custard cream biscuits to clarks shoes!!

we had this thread recently and further down there were a few ideas for speech and language.

www.mumsnet.com/Talk/special_needs/2461488-Toddler-displaying-signs-of-ASD-any-advice

as for Unique - even though you are the only one with your deletion (so are we!) it is brilliant. a lot of parents in similar situations. and even though your child is truly unique, often the difficulties the children have are similar even though the underlying genetic cause is not. once you are registered with them, join the Facebook group.

just saw that your speech issues are more muscle related. think my link won't be helpful then.

I recently made a book for a little boy who is non verbal using pictures off google images of very familiar favoured items, each day we looked at the book and using hand over hand we touched the different pictures, after a while he was able to touch or eye point at around half of them so we knew he understood what they were.

It can be a long process but well worth the effort. And that activity took 5 minutes a day!

Is there anyway you could reduce your hours at work to give you a bit of breathing space?

Are you getting Dla and enhanced rate tax credits?

Choc - the issue is a muscle one but it manifests itself like a disconnect between her brain and her mouth. So for example to learn the word apple we started out with picture word association. This picture is an apple and we would trow that in with words she already knew and practise those. Then next step was to try to get her to imitate the word, after a while she might say part of it. We have lots of part words so we have to translate for other people a lot. Once we got the imitation part down we would ask her to find the apple in amongst other options. This normally is a comparatively fast process as her understanding is very good. Then it is the constant repetition of the word to build the muscle memory of the word. Then we build on using the entire word so Apple is currently 'apu'. I have looked at the link and there are a few bits that might help - I would take absolutely anything right now. No harm in trying.

I need - I am definitely going to get a laminator. I made a post box and she can identify 70% items and post them in but maybe has the words for about 30% (I cut stuff out of the Argos catalogue).

DD is in a very emotional mood today - tears since breakfast......everything is setting her off. No idea where it's come from but DH is taking her out this afternoon so hopefully the fresh air helps. I will be home nursing my terrible cold!

Also we get no additional assistance for DD - never been offered anything or had the suggestion that we should be getting anything. I assumed that we wouldn't be eligible for anything if I'm honest as we have got 2 good incomes.

not sure what extra help you expect? DD is almost 8 with complex and severe SN and apart from support in school we get nothing. that is pretty standard from what I know. once the children are older you might be able to get some respite.

have you applied for DLA? I would do that if you haven't already. if your DD would get Middle or High Rate Care you would be eligible for Carer's allowance (provided you earn less than £110/week). other than that there isn't a lot of help out there.

and nobody will just 'offer' you help. from experience, you will have to ask/demand/battle for things.

Yes there's no / very little help out there. I claim DLA and pay for private SLT.

The biggest mistake is waiting 18 months for two hours of crap SLT. I could have been given 30 mins overview with a class of mums from the begining.

The only real beneficial thing I have ever had for either of my boys is OT

You definitely need to apply for DLA!

Download the guide from CEREBRA that will help you fill it in! Its a nasty form but well worth doing as it will open other doors to you!

The post box idea is brilliant and she is doing really well with 70 words! Never mind what the charts say, look at where she was 6 months ago to compare progress! Dont compare her to other children, compare her against herself, she is unique so the charts werent designed for her!

Keep going you are doing great

Have you ever used a mirror for her to look at whilst making sounds?
If her understanding is good you can repeat sounds like a,a,a,a, and watch how her mouth moves. Then do p,p,p,p, then le or llllll sound. Then she can see herself shape the word Apple etc. (or whatever sound/word your working on)

I had to do that with my ds who doesn't shape his mouth correctly for some sounds and therefore cannot pronounce words properly. I was told if they can see the shape they need to make its easier to then do it.

Maybe she is coming down with something? Hope you can get a rest later!

Does she go to nursery when you are at work? If she does they can access support via the Early Years Team of your local authority! So can a registered childminder for that matter!

have you thought about cutting your working hours? i assume you are paying for childcare and reducing hours might not affect your family finances greatly as it would reduce childcare fees too (for me working full time would not have had any benefits and after childcare my take home wage would have been the same as my part time take home pay after child care).

Choc to be honest I wasn't expecting any help, my mother is had a failed back and hip surgery and is unable to stand for more than 20 mins at a time but been told she is fit to work despite the huge amount of painkillers her Dr has her on.......right now I have very little hope beyond what we are able to do ourselves which is why everyone's suggestions are so great. begging and battling is basically all we have ever experienced.

Don't loose heart. There's so much parents can do to really make a change.

I am a career break and ironically I'm better off not working as childcare is so expensive!

So the first thing you need to do is look at applying for DLA then see if reducing your working hours would be cost effective in terms of paying less for child care! In theory you should be able to access 15 hrs free! This would definitely kick in if you can get DLA!

Even if you cant stop working full time you should still claim DLA as this might help you to pay for a cleaner or someone to do odd jobs to free up your time to work with your Dd!

Try internet shopping! Even if you have to pay for delivery, that will buy you a bit more time!

You are already doing lots to support your Dd and working less may not be an option but for your own health and sanity it sounds like it might be worth looking at!

My Dp was terrified when I gave up my job when I couldnt settle Dd3 with our amazing childminder, he though we would starve living on just his wages but we didnt! I have just given up another job and am home schooling Dd3 for a while, we wont have much spare cash but we will survive like we did before.

Cerebra does a fabulous DLA guide:

w3.cerebra.org.uk/help-and-information/guides-for-parents/dla-guide/

I will look at the DLA forms and get those filled in - all they can say is no and I can't miss what I don't have.

I will be reducing my hours next September (in time for DD to start school) and that will probably be permanent so that I can pick her up each day from school and talk properly with her teacher at the end of each day. I just have to ride the storm until then but we have chatted through the other suggestions like the cleaner and once we have our house purchase sorted (yeah we are like stress addicts right now) we can then look at getting something regular put in place.

I've been busy sewing little things for her today which always makes me feel better - babies in blankets (Palm sized bean shaped 'babies' who look like they are wrapped up) and a choose my clothes doll (16 inch doll with Velcro bits and clothes options). Hopefully they will turn out ok and she will enjoy them.

Good night everyone and thank you all for your hand holding this weekend I have welcomed taking all of those weights off my shoulders! and [brews] all round.