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

[hazeyjane]

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?

Hi all
mavis sorry to hear you're in a dark place. Did the physio suggest that she thought Orange was having absence seizures? I've watched my DS1 since i read about the prevalence of them in genetic conditions. He used to regularly not respond to me but always responded to the cotton wool ball. Have you tried it since Hazey suggested it?

Firstimer there's a good blog on swan UK about living in a bubble. DS2 can do puzzles and pretty much most this better than DS1 now and yet I'm still shocked when a friends 3 year old can do so much more than DS1 can at nearly 4!

Hope you all have a happy weekend.

Thanks hanbee - not really majorly sad just surprised - I guess I dont realise much of the time that while we work on walking and talking her peers have moved on. Couldnt find the post but just joined Swan UK which could be good

Mavis - hope your feeling better
Hope everyone is doing ok

Firstimer I recently saw ds from far away walking with my husband and it was shocking just as you say - his disability is so obvious now... For the swanUK, did you all have to print the forms or am I missing anything and it's possible to join online?

babiki you have to post the forms but can join their Facebook group and read posts.

mavis this the place for those posts so please don't apologise. Can't believe you'll be down here soon, looking forward to meeting you and am quite excited about it!

Having a good weekend so far, boys have been to a friends birthday party and it was a success, DS1 loved it, had very few incidents and even joined in playing "what's the time Mr Wolf"!

Just had the genetics nurse here, I wish all the professionals we have to work with were as lovely as her. She was so calm and sweet with ds, and listened to me babble on, and wrote down things that i wanted her to pass on to the geneticist, and she said that dd2's slug was lovely (dd2 has been running around the garden in her pjs, finding 'pets'). She said that some of ds's results have come back wrt Kleefstra, in that part of the test was normal, but they still want to check some tissues (hence the cheek swab), and there have been advances in one of the tests, so we may have to wait some time for that....nothing is ever clear is it. Anyway, in the interim, I've emailed Dr Kleefstra to ask what the various testing processes mean, and whether they ever make a clinical diagnosis - in light of the fact that they seem to be advancing the testing process all the time. I am so glad we haven't told anyone in rl that ds is being tested for this, people that have never been involved in this sort of process expect clear black and white answers, and it doesn't seem to work that way, well not with us anyway!

Hope everyone had a good weekend.

It is strange how different the reactions are to ds when he has his walker. Without it,people look a little bit longer at the little wobbly boy making funny movements with his hands (a new thing, not sure what is going on there), but when he has it, people stop and go, 'aaaahhhh, isn't he wonderful' - it's most peculiar, and i don't really know how to react.

Right, now i have to go and hang uniforms on hangers and dig out school socks and try to get life back into some semblance of order!!

Mavis - I hadn't realised the move was so imminent!!!

Hi all, glad of reports of nice weekends and nice nurses! Thankful that others have the same experiences as me regarding these moments of noticing - whether yourself or other people- and not really knowing what you feel/think in that moment.

I dont know if anyone has thoughts on the terminology. I am troubled about whether I know the right terms or have a good sense of undertones. Maybe someone can help? A friend recently was shocked that I used the word 'disabled' in relation to DD. As though saying it somehow makes a difference to how she is or makes it more permanent. To me currently she has a disability - I hope its not enduring but I do think thats what it is. Is there a negative connotation to the word 'disabled' or a more pc term I should be using? Also I've started to use 'SN' but then wonder if we have 'earned' this without a diagnosis apart from GDD. I used to use 'additional needs' as thats what the professionals use but in ordinary life people look puzzled. By which I mean cornershop lady and the occasional mother on the playground - my friends who have been following the saga seem to find it a good shorthand. I sometimes use the word spastic to describe the hand convulsions she makes - that feels ok in a medical setting but I feel v awkward using it elsewhere. I think it chimes to much with spaz as an insult...I dont want to offend anyone but dont really feel I understand the lingo well enough to make good choices. Also: I dont want to pussy foot about and call things some soft soft label just to make others less shocked/more comfortable/reassured.

For me using SN felt like a breakthrough. It was a relief to say it out loud and start claiming that label for us and what we are experiencing. It doesnt mean, for me, that I have given up all hope of her catching up or becoming more or less NT - I do hope still. Can anyone else tell me what language they use and why etc?

I would hate to be using words that my daughter one day grows up and tells me she finds offensive or demeaning

Firtstimer I also use disabled and sn, I don't say gdd anymore as people assume he will catch up. Sometimes I use learning disability, the terminology is quite confusing and vary from country to country too. In my home country the term mentally retarded would be used instead of GDD and it's a normal psychological term (retard is not a pejorative term there) but my whole family goes crazy if I use it... So also use disabled in another language now. When ds had his first private psychlogical assesment I asked her if she thinks he is retarded or has a learning disability...:)) I really didn't know it's the same thing... Well fully into the world of SN now I know... Actually watched the documentary from Swan UK yesterday and didn't like their use of word 'normal', I would prefer typical.. Ds therapist uses 'non typical' for him, that's ok. Hazey I've heard this before when kids switched from puschair into wheelchair- very similar reactions. I think people are just trying to be supportive and don't know how to express it... I have two dear old friends with sn kids ( now adults) and feel awful when I remember how I thought I know what they are going through- what a cow I was, I had no idea, just thought myself in tune with people... I must have said lots of silly stuff by trying to be helpful...said sorry since to both of them ad it is only now I can just begun to understand what is it like...

Thanks guys, I did request via Facebook

Mavis I had to get extension for my tma ( I'm studying OU) as I got stuck on your blog, it is great and beautifully written and so much stuff I could write myself - well done you!!

I tend to say ds is disabled, sometimes people look nonplussed or say, 'in what way?' and I say that he is very delayed in all areas, has problems with his muscles and is being tested for a variety of genetic conditions. I usually say special needs when I'm with friends who have dc with sn, or at nursery, but I stopped using it with other people after I said to a mother at school that ds has special needs, and she said, 'what's so special about him?!' - I was rather taken aback!

babiki, i think you are right. I actually prefer it when people come out and say something about ds when he is with his walker (as long as it is positive!) when people just do that double take and stare, I just feel all uncomfortable and neurotic!

Thanks for your feedback its helpful to know. I suddenly felt totally unsure of what langugae I was using. Think I will stick with disabled and SN more or less.

Mavis- v excited about your move. Good luck with the packing up!

Can I join this thread please? my ds is 3 in december, have had concerns about him since under a yr old but still not got any diagnosis for him and tbh not that much support although he is in the system but everything is just sooo slow all the time. I'm having a frustrated day today, although i should be more positive because he did so much better in speech therapy today and actually particpated in taking his turn rather than crawling off and hiding in the corner as he's done with previous sessions.. but I am really tired.

because he does not have a diagnosis, generally people don't understand, if i mention things to friends sometimes they are like "oh yes my child is like that too" (where child is nt and they may think it is supportive but not really! eg their child apparently was also a "slow talker" but cant have been that slow as i remember them being under 2 years old and talking lots of words?? whereas mine is coming up 3 and barely verbal )

he is a lovely lovely boy. i feel bad for finding it hard at times. i have 2 other dc, one 1.5 yr older and one 1.5 yr younger and this one is in the middle. back when he was born i imagined things would be much easier by now, considering the way my older was at this age. most children nearly 3 seem to be able to do so much more and just more 'mature' - although my ds is not that severe really, he's delayed in all areas but not delayed by a hugee amount. he doesnt really have a lot of medical needs or problems. its just all the little things - i know i have to take him to get shoes measured soon, i am putting it off and putting it off because i know he will have a melt down as he can't handle situations like that. same with hair cut (will end up having to do that myself i think)

he will be supposed to be starting nursery before long, it worries me. the schools say they are supposed to have support for signing and special needs, but in practise ive heard they really dont use a lot of signing - but he needs it. just dont know how he is going to cope. he may well suprise me and manage okay.. dont know how i am supposed to toilet train him when he has so little speech, and level of understanding also not at his age.

cdc seem to be thinking along the lines of asd i think, as they have written social communication difficulties?? he is having ados on the weekend, but as its for a research scheme wont be able to get a diagnosis from that. but hopefully they will be able to give some kind of feedback which is better than nothing.

i love him so much, i am so tired, i feel like a crap mum, i just wish we could have a diagnosis so get on with help him better and getting more support and have more of an idea what the future holds for him..

is this what everyone feels like or is it just me??

sorry for the huge post and just inviting myself in to your thread but couldn't see anywhere else suitable looking and didn't want to make my own
but feel free to direct me elsewhere if not the right thread!

Hi Firawla - sorry about your hard day but happy you've made it here. It is hard and lonely and it sounds like you might not be getting enough support - it does feel like you are being poo poo'd if people say 'oh mine was like that' when their children are NT. Mainly because it is hugely draining to be looking after a child that has the abilities of a baby well into their second year (and beyond)

What professional input are you getting (physio, OT, Salt etc) and how often? Is it co-ordinated and reviewed in any way? Are you in touch with any other parents with SN kids? Have you got DLA to help with costs? and tell us more about your wee boy if you ahve a chance

PLease dont feel like you are doing a crap job - I find looking after my DD (2.7 with GDD) enormously draining at times and its so frustrating that there's not one big thing you can change but incremental progress on hundreds of little things so it just feels overwhelming some days.

FWIW nursery has been great for our girl - she loves the busy-ness and activity and they have been excellent at supporting her and encouraging her to participate. Plus I get a break what can at times feel like watching grass grow -this helps me have more enthusiasm for when I am looking after her. I was terrified when she started but nursery was good for us.

Welcome in any case - there may be some ASD threads about on here that are helpful too [hug]

I know many of us are feeling quite dark atm and I wanted to share this SN blog alifeunlimited.wordpress.com/ Its by SaintlyJimJams who posts on this board under that handle too. Her son is non verbal but uses a talker. But thats not so much the point of my posting the link as the videos of him surfing. Back in Feb/March I was feeling very down about our girl and the future and these videos did something for me I cant really put into words. It has something to do with seeing this boy so happy and content, with feeling his family is happy too, that their life is a good one, even tho he is non-verbal (one of the things I fear desperately wrt DD). It helped me develop a sense that we will get somewhere happy too eventually regardless of what our girls' abilities end up being.

Maybe it will speak to some of you too

Fantastic link firstimer. Another a blog for me to follow in my non-existent time off!

Mavis I'm glad you're getting some respite, in fact I'm q jealous. My parents have just taken the boys to the supermarkets with them to give me a couple of hours off.

Today's been a horrible one mostly because my youngest has been a whineing, two year old but added to by a huge F*ck up by the NHS.

Back in March DS1 was referred to a paediatric neurologist for investigations/assessment for a myotonic dystrophy (do NOT google this!). We received a letter in April saying that he would be seen at a clinic at our nearest hospital in September as the neurologist was based in a hospital at least 2 hours away in Bristol. All fine. Except we heard nothing so I began chasing in August, secretary said she'd get back to me, didn't and went on holiday. Today I receive phone call from the neurologist to say DS1 is not on the list and they can offer me an appointment in March 2013. Oddly he sounded surprised when I told them that this wasn't acceptable, I did manage to hold back from swearing at him. Basically what has happened is we are based in South East Cornwall, our nearest hospital is in Plymouth, Devon. So kindly paediatricians based at said hospital in Devon prioritise their own list of Devon based children over those referred from Cornwall. ARGHARGHGARGH! Makes me so mad. We now have a lovely trip to make, where we will have to drive past two Devon based hospitals and I will have to arrange childcare for DS2 for a whole day rather than a couple of hours. I am pretty angry. As I said, not a good day.

I will go off to mope now...

thank for welcoming me in here everyone. i will have a look at the blog thanks firsttimer

mavis i spend too much time on mumsnet so u have probably seen me around everywhere!! i am actually thinking of booking something and going away for a break for 1 or 2 nights, i have never done that before but said to dh i really really need a break. so he said book one then! which suprised me actually cos he never looks after dc but will give him a chance to see how he gets on :S hopefully they will be okay! ds2 totally loves his dada so think he will be alright
not sure when ill be going though, i want to take one of my friends with me so need 2 see which wkend she is free. but think it will help 2 have that to look fwd to anyway

i am feeling a bit less down today. sometimes its just really silly small things that upset you, like my youngest (13 months) said a new word which was car - normally should be feeling happy about that, but my 1st reaction was that my heart just sunk cos i can see him catching up to my ds2 so fast and he actually has most of the words ds2 has already! but will be hard to see him over take him - which realistically he will.. then u feel guilty for not being happy enough about ds3!
then u get things like mil saying oh noone ever had autism or any problems like that in our family, make sure u feed him enough fresh food!! :S its not caused by food!!!! and i do give him fresh food, hes just a bit restricted about what he will actually eat! but i suppose with all these things just have to ignore it really and just do what u gotta do, and let people think what they want!

but yeah we are not getting enough support i dont think.. he is on slt a 4 week group course at the moment then further assessment and i want to push for one to one for him so we will see. physio not having regularly, ot not had at all, dla not got, portage we have but the group he was going to with them got cancelled so now waiting to here back from them about further home visits
hes not as severe as some other children so i guess they do have to prioritse others, but a bit more support would be nice...

hanbee that sounds extremeley frustrating!!

Hi, I joined this thread last August (as ihatecbeebies I think maybe, but have had a few nc), we got our ASD dx last week. You were all a great support, thanks for all the handholding I'd have been lost without you all!

Pedantic - good that you have something tangible to try to work on.

Nice to see you again I rememeber Ihatecbeebies - I often wonder whats happened to people who posted a bit and then disappeared - so its nice to get an update.