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Is anyone else starting out on the road to a diagnosis? Fancy holding hands on the bumpy path?

999 replies

hazeyjane · 16/05/2011 22:34

Ds (10 months) had 2 appointments in one today, a medical assessment and developmental assessment. He was referred at 7 months to the community paeds, due to developmental delays.

We are now booked in for some blood tests next week, and some physio, and have been referred to a SALT, for portage and to a special needs playgroup.

It is all so overwhelming, on the one hand I feel so much better, after months of waiting that I am able to do something. On the other hand I feel as though everyone is still scratching their heads over ds, and I just want someone to say, 'ah well Mrs Hazeyjane, your son has -- thats why he can't do these things, (well I don't, obviously I'd rather they said, 'ds will catch up and there is no issue, now be off with you'!)

I know that this is going to be a long process, is anyone else just starting out, or a little further down the road, for handholding, venting and advice?

OP posts:
hanbee · 16/03/2012 13:48

Sorry for typos and absolutely terrible grammar in my last post, I'm on my phone. Blush

missmaviscruet · 16/03/2012 21:05

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hanbee · 18/03/2012 17:50

Oooo how exciting Mavis! Sorry I can't recommend really as we used one that was near our old house in Worcestershire. The one our sellers used was rubbish IMHO, really slow and kept "forgetting" to get answers to questions.
Good luck with the purchase, hope it all goes smoothly.
Han

used2bthin · 19/03/2012 20:25

Hi all, just been having a quick read over the last couple of pages, not been on here ages and saw the thread, thought I would catch up.

Sorry to hear some are having a hard time of it all. Firstimer I hope you are feeling better? I felt very similar when dd was little and saw the GP who wanted to see me weekly for a bit, it did help as I knew I wasn't alone with it iyswim.

I am feeling we haven't got very far in terms of diagnosis since I was last on. the small deletion on chromo four that was found turned out to be a red herring as I have the same. I am expecting DD2 and the geneticist said she will see us again before baby arrives but has come to the end of the things she was testing for really-which I know is good but no answers still to her learning difficulties.

The MRI was normal, unlike the EEG,still not started epilepsy meds that were recommended as her genetic disorder has been a nightmare to manage, her steroid doses have had to be increased a lot, we've been in hospital way too often with various bugs.

We have an appointment with the neuro disability team in june and I am hoping for more info after that but not convinced it will happen!

Firsttimer7259 · 21/03/2012 13:41

Just thought I should update that I am feeling a bit better. Thanks for the support on here.

Ive been in London for a few days, work plus friends. Its done me a world of good. Reconnecting to people and leaving behind this obsessive worrying for a bit. I needed to review a bit what progress we are making and think through what I think ought to be done. But now I am planning to get back into my life for a couple of months and revisit this when its had a chance to have an effect.
It seems crazy how much is unknown about genes, devlopment etc. The not knowing is so hard.

Anyway hope everyone else is alright.
Hazey any news regarding the tube yet?

used2bthin · 22/03/2012 13:06

It is crazy isn't it, my dad has found it really hard to take as he works in mental health and thought neurology would be far more straight forward and it just isn't.

Sounds like a good plan you have there. Someone on here once advised me to do something similar when I was agonising over when to have dd's op, she said give myself a set time to not think about it (I chose a week) then come back to the process afresh. It really helped.

Hope you find some relief from it all x

hanbee · 22/03/2012 20:56

Sorry guys off topic - Mavis, just seen your other thread about where you're moving too and you'll be about 10 minutes away from me!! You must message me when you move, happy to meet for coffee show you the places I've found in the last year. Actually feel really excited for you as SG is a really lovely place! Yay! Blush

missmaviscruet · 22/03/2012 21:09

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Hayley16 · 25/03/2012 18:57

Hi all!
Not been around for a long time but thought this maybe of some interest www.dailymail.co.uk/health/article-2119800/The-SWAN-children-Each-year-affects-6-000-British-children-doctor-diagnose-cure-it.html
Article in the daily mail on undiagnosed children(features my son Freddie) Worth a read.
Hope everyone is well x

missmaviscruet · 25/03/2012 21:40

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Hayley16 · 25/03/2012 21:57

I'm glad :) Do you blog missmaviscruet? Pretty sure i've read your blog & i follow you on twitter?

missmaviscruet · 25/03/2012 22:07

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Firsttimer7259 · 26/03/2012 14:32

Nice to see you Hayley. Nice also to see a decent length article in the mainstream press. I hope Freddie is well and you are ok xx

hanbee · 26/03/2012 22:01

I think that's the first time I've read a daily mail article that didn't make me angry!! Great quotes Hayley.

hanbee · 30/03/2012 19:36

Hi everyone,

It's quiet on here (watches tumbleweed blow by).
We had Jacobs first Team Around the Child (TAC) meeting today. Found it oddly stressful but I'm not sure why. Think just found it depressing that I face a future of having meeting about my son and fretting he won't get the services he needs/deserves. What's everyone elses experience of these things?

used2bthin · 31/03/2012 07:42

Hanbee, we don't have TAC meetings exactly (I know a bit about them due to my job) but have a similar thing now DD at school, to review progress and statement etc. I always dread them but they often leave me more focussed iyswim? Otherwise I can get muddled up and overwhelmed with all dd's different needs that I can't thhink straight.

Do get frustrated though about provision.

hazeyjane · 31/03/2012 10:39

Have just come back from last minute weeks holiday at friend's holiday cottage, got permission to take girls out of school and have spent week on beach, on river and eating cake - heaven - but exhausting, ds is hard work away from home, and was very unsettled and clingy, plus he and girls slept badly, throw in ds's 5 am starts and dh and I need a holiday we are so tired!

Hello Hayley, the Mail article was very interesting, it is so true how hard it is for others to understand when there is no diagnosis. The other day a very close friend, kept saying, 'but ds will catch up, I mean it's not as though he is actually disabled...', I know she is trying to be positive, but it seems to minimise the experiences we are going through - 4 hospital appointments in 2 weeks, having to decide whether ds is fed through a tube in his stomach, an inability to chew and swallow food properly, piedro boots to try and stop his feet clenching into balls and speech still at the level of a 6 month old. If ds had a diagnosis then at least we would have a hook to hang all these issues on - but if I say something like this, people say we are being negative and trying to 'label' ds.

Hanbee, I felt so positive at ds's first TAC meeting, all those professionals there to help ds, and a real plan of what therapies would be in place and what tests were needed. The trouble is over the course of the year, ds's needs have changed and it feels as though all the support has fallen away. I think part of the problem was that his lead professional was picked for us and she has been appalling at keeping in touch, and chasing up the things we needed chasing, leaving me to try and work everything out. I have asked for another TAC to be called next month, to try and bring everything back together, and update where ds is now. I feel as though this time round I will be a bit more kick-ass about the whole thing. On the positive side it is really good to get all the details of all the professionals involved, and get a chance to co-ordinate the care.

The report came back about ds's feeding, and the feeding SALT recommends a gastrostomy, as does his consultant. Ds's SALT has given us some advice on ways to try and minimise the aspiration and has advised upping the amount of exercise (swimming 3 times a week, lots of soft play etc) to try and improve his muscle tone, also to find out about chest massage. But she said that probably one more bad chest infection will tip the balance to getting a tube.

Our genetics appointment has finally come through for Fri 13th April (repeats -I am NOT superstitious!), it is in Oxford and in school holiday time so we now have to find someone to look after the girls between 8am and 2pm -aaaargh!

Hope everyone is ok, sorry that was such an enormous post!

OP posts:
hazeyjane · 02/04/2012 19:52

Hello, don't know if anyone is around.

Had a difficult first day of the Easter holidays, dds were full of beans and ds was just such hard work, out of his normal routine I seemed to fail miserably at keeping any of them happy. So we went to the park in the afternoon to feed the ducks and have an icecream, the genetics nurse rang my mobile whilst we were in the park wanting to ask tons of questions pre next Fridays appointment. I should have said i'd call back later, but everyone was happyish so thought i,d get it out of the way. 40 minutes later, I felt thoroughly depressed having gone through the reasons why i have no contact with my father or his family, his mental health issues, my molar pregnancy and fertility problems, ds's birth, my subsequent pnd/ptsd. It was grim.

I came home and felt a huge sense of gloom about meeting the geneticist, I feel as though whatever is going on with ds has a chromosomal basis, but I have a feeling we will come away knowing nothing more. Reading that article about SWAN has nade me feel a bit desperate to be honest.

Anyway, I am watching Buffy, drinking a glass of white wine and lovely dh is cooking me tea - so it can't all be bad!

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missmaviscruet · 02/04/2012 20:38

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hazeyjane · 02/04/2012 21:45

Good luck tomorrow, it is hard going through it all every time you have an appointment, I hate the not knowing which way this appointment is going to go feeling. Let us know how you get on.

It is fantastic that ds is doing so well. How is his sitting? I remember when ds first sat (at 12 months), it was amazing to me to see him suddenly take an interest in toys, previously to this he really wasn't bothered by much, and seemed to just want to be cuddled. He also started to be frustrated about not being able to get things and his physio said how important that frustration is, because that will be what motivates him. Of course it is now that frustration that cause him to screech and scream that he can't express what he wants or move to the place he wants to be!

I'll be thinking of you tomorrow.

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missmaviscruet · 02/04/2012 22:09

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used2bthin · 03/04/2012 07:50

Hazeyjane the geneticist we have in Oxford is so lovely. I know that isn't much compensation but it does help. She also hasn't given up despite all tests so far not being particularly conclusive and she is always good at being on the phone if I have a worry or think of something else. XP is adopted so we had a complicated family background too it is horrible answering so many personal questions.

Missmavis I hope your appointment goes well too. I hate this building up to appointments and decisions thing its awful isn't it. Its exhausting emotionally.

Another one who had a bad start to the holidays, yelled at DD for doing something that really wasn't her fault but to do with her general confusion (and obsessions) then went to a friends house where two girls DD has known since before she was two were so out of her league play-wise that she played with my friends two year old instead. The two year old's language skills and play was actually a bit ahead of dd tbh and Dd lashed out, I ended up bringing her downstairs with me and then worried that my friends thought I was soft on her for hitting out. I am thinking, sice dd is in mainstream school (with a lot of support) for now then I should concentrate on seeing other families with SN outside of school and see my friends seperately.

missmaviscruet · 03/04/2012 21:10

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hazeyjane · 04/04/2012 09:52

mismaviscruet, I'm glad your genetics appointment was positive, and that you will be able to be seen in Cornwall. I am interested in the DDD thing you were put forward for, had you heard of it previously? I am panicking already about next weeks appointment and what questions to ask, I think i'll start a thread.

Also great that she was positive about ds's progress, how old is he now? I seem to remember ds having little leaps in development after about 14 months old, when he just seemed more interested in stuff. One of the horrible things about him having chest infections is that for a few weeks he just seems to slump, and show no interest in anything.

The playdate thing sounds hard, sign, I suppose at the age ds is most of the difficulties of meeting friends with similarly aged children is the fact that it is difficult for me to see how different ds compared to his peers, but I imagine it will be harder for him as he gets older. I am very lucky that a friend introduced me to a woman who lives locally, who has a ds the same age as mine, and with similar difficulties, we instantly got on, and our ds's go to sn nursery together.

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Firsttimer7259 · 04/04/2012 11:14

Hi everyone, lots going on I see. Hazey I hope you manage to somehow get some rest in there. Nice to see someone have a less stress appt for once missmavis.

I am increasingly feeling I cant really relate to people with NT children. On the one hand I think as our girl gets older the differnce becomes more apparent. Before you couldnt really tell, now I find her blankness/oddness is just more noticeable. I find it so painful to watch other peoples children just do stuff that I am dying for DD to do. I so wish I didnt feel like that but I do, I cant help it.
I am also constantly angry with people for telling me to be positive. My sister was going on about maintaining perspective and positivity and I just wanted to smack her one. Its just: they have no idea what this is like. They dont want to know. And somehow they seem to want me to make it better by giving it all a nice happy sheen about how its all going to be ok.

I am not saying it wont be ok, there is still a chance, but I listen to Reality FM these days because I have to. So I stick a bit to my own company at the moment.
Arrrrgh rant rant rant rant rant rant rant rant RANT!!!!