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.

Just keep swimming insomnia you and she will get there, just remember to celebrate the small steps and choose your battles

I have been where you are, and still are to an extent Insomnia Queen so I understand all those feelings. My 2 year old daughter has GDD with no known cause at the moment (there was a point when it was thought to be due to a duplication but that is not the case so we are back to not knowing).

What has really helped me is a charity called Snowdrop, based in Devon which works on a series of tailored exercises to build new connections in the brain and help each child achieve their full potential. We are already seeing some progress with my daughter and there are some amazing stories on the website of children doing phenomenally well. I think the reason it has helped me so much is that it feels great to be doing something so proactive rather than just waiting, which the NHS seem to do a lot of. Feel free to PM me if you want any more details.

As other posters have said, enjoy your daughter and enjoy and celebrate the progress she is making. I spent too long being miserable thinking about every milestone she hadn't achieved rather than what she could do.

Hi all - things are doing much better here at casa IQ. DH and I have had some time to chill together which has been nice, talking it through with you all has really helped and I recieved some good information from UNIQUE which has explained some things to us.

All in all - in a much better head space I think. We have a new normal and we are taking our time to understand what that means.

Hope everyone else is having a good week! Love to all x

Thanks to lady and js for those links I will definitely make use of them.

Yes! New normal it's "your" normal, what's normal for you. That's my mindset now, you have to embrace to accept and be happy. But of course their was steps to get there.

I am allowed to be deeply sad, angry etc some days. Mostly I'm not, or not for too long

Brilliant insomnia really glad that once again MNSN has been able to support someone

There are not many safe places to get proper help from people in similar situations but this is one.

Good luck with your new normal

Ok so i lasted 2 days - i was doing really well until we walked into pre-school this morning and the entire class was sat reciting their numbers (1 to 10). I was thinking "ok we can get to 5 so maybe we are doing ok". Then the teacher said - count backwards....and all together they counted backwards. I was REALLY then to add to my "holy god this can't be happening". She said - now in french. And yes collectively they all counted to 10 in french - in french - are you kidding me!

I try very hard not to compare DD with others because that only leads to me being upset so i just dont think about what others are doing and concentrate on what she is doing and where she is achieving. That was a real shock to me today. I tried to speak with the teacher this afternoon but she doesnt really understand about DD and i wasn't about to try to explain in front of all the other parents there. I got the standard "all children develop differently"..and my personal favourite..."child X was non verbal and out of nowhere they just started talking". I felt very dismissed - maybe I am being sensitive. God i probably am!!!

I just couldn't get past that today, all day it was going through my mind and even had a few tears during the day. Had to call my sister to talk me down as i was in pre-meltdown mode. Then i had all the "we've done our school application forms" statuses today. We don't even know where to start with all this, tried to ring the inclusion team that we have been referred to in hopes of getting some advice but apparently they only work half days/part time.

Want to shout from the roof tops - i really was doing so well

Don't compair, that is where madness is.

Yes it's hard. After years I just filter all that out.

Think what dd has achieved, without comparing her.

There's no easy answer, it's a mindset shift tht comes over time

2boys you are right, i know you are.....why do i persist in this madness????

Because it's not that easy is it? Ds is three but mentally he's 9-12months I can't compair him to those babies or his peers. He's unique! I can't even compair to his peers in his sn setting.

He's just him, there's no other version of him.

Besides secretly I can be smug because I have "evolved" beyond all that competitive parenting stuff. I'm above it, I have a bigger picture and I'm not tied to living through my kids. ( or pushing them to be a doctor as that's what I wanted to do). I might go back and be that postgrad instead ( I'm still no doctor material!)

It's made me rethink everything. It's liberating! You can't compare me to my peers either now.

Does she have SLT? Our SLT used to go in to nursery and do some therapy sessions there - and liaise with the key worker and nursery sensory, to set speech targets for her IEP. This then continued into school (although the SLT that covered the school wasn't 'our' SLT, so she saw one at school and then 'her' SLT for blocks out of school.

Physio used to go in to nursery as well (again, to build relationships with the key worker and help with goal setting for IEP). OT also went in, mostly for seating assessments and accessibility stuff, but she would also provide fine motor targets if needed. We mostly saw therapists out of nursery, but it's also important for the nursery to understand in professional terms what difficulties a child has (we also provided them with every report along the way).

We were told dd was unlikely to be verbal because of her oromotor skills, but she eventually became intelligible around 6 or 7 to those not familiar with her (although this went out of the window if she was upset for any reason. I remember vividly the day I got called in to school because no one could understand her, and she was distraught. It turned out that she had found a leaf in the playground and wanted to give it to me, but something or other had happened and I wasn't there. Even when I got there it took us about an hour to piece it together!)

Anyhoo - get nursery more on board with the therapy side of the house - get their senco linked up with your current therapy team - or get back on the waiting list for SLT etc if you are not current.

When dd2 was small I worked weekends and dh had the kids then - she had so many appointments it wouldn't have worked otherwise. Later I picked up a contract job where we could pay for a nanny, and so she carried all the routine appointments (I would just take a day off for consultant or eye hospital stuff, not physio or OT). Life does settle down, I promise. But it is hard along the way.

And start looking at schools and visiting with sencos. But be kind to yourself. A dx is always a shock, no matter how much you 'know'.

2boys from the moment DD was born I have avoided and removed competitive parents from our life. I have a close group of about 5 'mummy' friends and we don't compare progress/achievements we just celebrate each others children's successes, care for and support each other where needed and hand hold/listen to each others worries. No judgement and no belittling each others concerns. This 'weeding' process has been key to my survival in the cut throat world of "my baby slept through the night at 6 weeks". I have been so disciplined with myself but yesterday was like BAM - just because you don't think about that gap it doesn't mean it isn't there. I'm praying I evolve beyond this soon, DD is beautiful I know I'm her mum so of course I think that but she truly is. She is funny, loving, kind, she has a Diva attitude when she is crossed and is not afraid to tell anyone off. She is unique and I wouldn't change her because it wasn't easy getting pregnant and carrying her. One of her names actually means "a hard pregnancy was worth the reward".

mad her SLT goes to nursery, physio comes to the house. SLT was a big fight because we live in one county but her nursery is 5 mins into another county. It is the best in our surrounding area so we chose to do the short commute rather than a local option. The admin lady at the inclusion team told me yesterday that this was going to be a problem......prepared to get my mummy fighting gloves on over this as I don't want to take her away from where she is so settled. I will ring around the SENCO's as you suggested and make some appointments. We have until January to get them completed but I with everything being so new we haven't had a chance to get any guidance from anyone yet.

Being kind to myself is top of the list today - a little bit at a time. Thanks all

Hi Insomnia - my daughter has 16p11.2 deletion. I don't know if this is the same as your DD but happy to chat with you. She is 11 now, we finally found out about the 16p issue when she was 7 or 8 years old. It finally made sense of the various issues she has.

Hi IQ, I just thought I would share this with you as it really helped me when my little girl was thought to have a duplication. It is Victoria's story on p15 - she has a different genetic issue from your DD (and mine) but I found it very inspirational and amazing to think how far she has come from being so delayed in her early years.
www.rarechromo.org/nlfiles/UniqueNewsletter_No73_Summer2013.pdf

Obviously not all children progress as well as Victoria but it really have me hope when everything seemed to be so desperate.

For what its worth insomnia I worked in early years until very recently and that kind of rote learning for pre school children does not fit the eyfs model!!

Children are supposed to be learning through play not sitting saying numbers parrot fashion!

I would be looking for a different pre school where the children are encouraged to be children!!

Just saying!

Thank you for the link lady - just trying to keep the hope alive is a big deal.

We went to a wedding over the weekend of some close friends who know everything that we have been going through and they saw DD running (she basically moves her arms faster and has no real momentum but that is her running). My friend watched her for a while and she said "you must be so proud" I was quiet for a bit as I thought about it, about all the people who doubted her, about all the times I thought 'god will she ever X' and she has shown all of us. I don't think I give her enough credit - she has come on so much in the past 6/12months and I suppose with everything whirling round us I haven't really stopped to think about all the things that she has managed. All through her hard work and determination.

beautiful DD had a 16q12.2q21 deletion but it would be great to chat as I still don't have very much info and would be great to understand you journey.

i need originally we had DD with a childminder as we hoped the smaller setting would allow her to enjoy more of the things that she needed but found that she wasn't really benefitting physically. After lots of worry and pros vs cons list we chose our current nursery. Great ofsted, the teachers and people there were amazing, the kids were all happy and laughing. We stayed a full afternoon and went around all the classes, spoke to some kids, parents etc. the place is huge - like multiple acres huge so there are lots of opportunities for DD to be outside, which despite the fact she couldn't really get about she has always loved being outside.

Her first class and first key worker were awesome - she and I were totally on the same page. She understood that DD was not where the others were but I knew she was never left behind and the others in the class would always think of DD and help her with physical activities like taking her apron off etc. she was well cared for and protected by her friends.

The next class was also good - that is their 'pre pre-school' class so same amount of fun but doing a bit more on the self care side and a bit more structure.

She has only just gone up to pre-school so all of it is new to us - she loves it there and is the most popular girl in the class. When we arrive in the morning she gets a hug from all of them. All the parents know who she is and even though she doesn't necessarily make much sense she always gets her point across.She loves it there, is always eager to go in the morning and always happy when I collect her - most of the time she doesn't want to come home.

The new teachers I think I am still getting my head around, I don't think they necessarily understand DD and I don't think they really know what is going on with her. I spoke to the nursery owner and raised my concerns about the 'parroting' learning like you suggested and she did explain so I was more relaxed about it. She also suggested that I write a letter to her new teachers explaining where DD is, my concerns for her and what we are working on at home. Which I said I would do, as they have only known her for about 3 weeks and unfortunately the nursery director and designated SENCO is out sick and about to go on maternity leave. One of the other team members will be standing up into that role but I think a one side of A4 will let me get mp key points across so that I know they understand DD's challenges and it isn't a quick 2 minute de-brief whilst they are trying to herd the rest of the kids out the door. I always check the board to see what they are doing that day and ask DD questions about it on the way home - she acknowledges that she did activity X through my yes/no questions and whether it was fun,nice,not nice. I feel like it's the right place for her ,she seems to fit there but it's hard work having all these doubts about every decision that I make. What if my gut feeling is wrong? Arghhhhhh

Keeping my head above water with lots of 's and and you amazing lot!!!

You might find it helpful to contact Genetic Disorders UK - www.geneticdisordersuk.org/aboutus

InsomniaQueen your DD sounds wonderful, you should be very proud. x

Ask for a one page profile to be set up. You can google what it is. It's a very standard doc now so the pre school should know what one is.

I spend all my waking time doubting. If it's the right thing for today, that's the best you do.

I don't make grat desisions, but they can from the right intent. It's the best I can do! You have to trust someone, trust yourself. I am the only consant in my sons life that comes from the best intent.

I'm my own rock. I never let the kids down. I'm proud of that, you should be too, all in good time

Sorry for not posting before - thanks for all the kind words and advice I am currently working on the one page profile so hopefully can get that finished this weekend. We had a letter from the team at UNIQUE they can't find any others with the same break points as DD but have given us some other parents with 16 deletions so thinking about how to contact them....A couple are close but not sure if people 'meet up' to chat or its just a correspondence thing. Had a melt down mid week just because of all the tasks I'm trying to juggle at the moment. Need to get through the next month and a lot of those things will be gone......hopefully. Wishing you all a great Friday and a lovely weekend xx