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,

I'm feeling somewhat better now that DH has returned, he was in Dubai with work until Thursday, he missed both the boys birthdays and it was 35 degrees there. Not sure whether to feel jealous or sad! The appointment is on the 31st and in Bristol as we got bumped from the Plymouth list by Devon children (grrr)

Rum hope the move has gone OK and that everything will settled down now you're down in lovely Cornwall. I think about you lots, especially when we went for a walk on the beach yesterday, it was weird thinking you were probably just up the road now!

Hazey that is exciting news about the study and Dr Kleefstra. I think I would feel good about it too, it would be nice to know someone is going to really look into things for my little boy and get to know as many of the medical ins and outs of him as you can. I think the feeling like you've been abandoned in a no-mans land is the worst.

Firsttimer I know that feeling I have it on a daily basis when I have to tell DS2 to wait and let his brother have a go when we're doing colour matching games. DS1 knows them he's just not in their quick like DS2 who has now passed DS1 by in pretty much every area of development, DS2 is so easy to play with, stuff just "happens", as you say "they just do it". No hard work, endless repetition and hand holding required .

In other news.... we started looking at schools this week as have to make our choice by Jan 15th. Went for a second visit to our village school and spoke to SENCO who I was q impressed with but seems a bit "I know my stuff and I'll tell you how it works", not sure if she'll mellow once she realises I'm not a complete idiot or whether we'd butt heads fairly often. School has about 120 pupils and currently Reception and Year 1 are taught together, which would be good.

Next week I'm off to look at a village school 10 minutes away whether the pupils number 47. Reception intake last year was 3 , yes really, 3, and the first 3 years are taught together.

We're also going to see the ARB (special needs class in a mainstream school) which is 15 mins away in a large school. Both Paed and his teacher at CDC have counselled against this option though, for varying reasons such as "should at least have a chance to be in his community" (paed) "he's very social, look for who you might think he'd socialise with at the ARB" (CDC).

I am so in awe of those of you with more than one who manage to cope with all of these challenges! I struggle to even keep up with getting on the computer and I have one little boy to deal with!

Rum - I really hope things have calmed and the seizures are under control. Our first seizure happened in hospital and sounds very similar - he stopped breathing in my arms. It was terrifying. We haven't seen that since, but he now has jerking episodes every day that I am convinced are myclonic epilepsy as he struggles to hold anything afterwards (we have a normal EEG, but Myclonic epiepsy often does before 18 months). Seizures are frightening and hard to deal with, but hopefully controllable. I know this may sound like trying to find a silver lining on a really big cloud, but something that has helped me with all the difficult to watch 'quirks' of my sons condition is that at least it somewhat narrows the diagnostic field. Fingers crossed it improves.

We are also about to move to the countryside (from London). Never in a million years saw myself in the country, but I am so excited now. I just cant cope with the competative pace of London any more. My son has also started making a very loud screaming noise - top volume, high pitch - as his communictation. He does it for happy, frustrated, sad....everything really. SALT tells me this is a good thing, so I don't want to discourage him. But my god its hard in public. We are always out an about, as I just need to be that way to stay sane. However in the last week I have had tutting and head shaking in two public places and I am starting to feel like we can't even go and sit in a coffee shop (he loves places with lots of people).

Has anyone else had the hig pitched happy screaming phase and did it pass?

Rum - I have just read your blog and forgot to add, do you have a movement monitor at home? We were sent home with nothing and decided to get one. I know they are not really aimed for this age group and I don't know what the top weight limit is (I should really check this - we do check that ours works though and it does!) It helps us to know it is on. I know it is no substitute for human observation, but as we can't sit over the cot all night, it works as some kind of reassurance. I am so sorry you are going through this - your blog brings back a lot of memories of being sat in HDU.

Can I say hi?

We finally started assessments last week, DS3 has the final one on Tuesday then we have a meeting on Thursday to discuss all the reports. I don't know what I expected of this time, terror wasn't one of them though :(

A bit about me. In a sahm with four DS. I'm now watching the baby take over his brotherin so many ways. I'd forgotten how 'easy' they can be.

Hi all. My DD is just starting out on the road to testing and stuff after years of expressing my concerns to the professionals. She's 3 and can't pronounce words correctly, only started trying to say words recently and won't speak in scentences. She has terrible screaming fits. Dosent play with other children but plays around them, gets obsessive about 'things' and apparently is functioning at the level of a two year old. Not sure exactly what is wrong but her speach therapist, behavioral specialist, nursery key worker and health visitor are worried that she won't be ready for school next September. Any one experiencing things like this?
P.S sorry to jump in on your thread like that, I'm new to the site :/

Big hi to new folk - kmummy how old is the child being tested? I hope for no bad news for you on thursday. Please tell us more about how you're doing when you get a chance. Katesedge - good people are finally taking notice maybe you will stumble across someone good. Fingers crossed for you too.

Rum - excellent news that the leap bit of your move is over. Happy unpacking

Hanbee - thanks for the comments - I sometimes get annoyed w myself that I cant seem to get over that feeling. It just echoes through me again and again over time. That thud feeling as you notice it alll over again. Its nice to know Im not the only one who sometimes finds it hard to move on from the loss.

Smiles - we are having lots of screaming at the moment. She so angry -and mainly angry with us (so bahaving at nursery). I find it tough to leave her alone with her screaming in public even tho I know interfering with her winds her up when she's in that state. Its the public disapproval as you 'ignore' thats an extra layer of tough. Ive also had to remind repeatedly two therapists/SN careworkers to stop shaking toys/singing/cuddling etc to 'help' as DD gets hysterical in response to additional stimulus.

Im a bit worn out at the moment - DD v grumpy for 2-3 weeks now. Flu ahs made H have increase in MS fatigue, I have deadline looming faster than speeding bullet but am too exhausted to work productively. Frazzled and getting v short with H who has been 'lying about the house' all weekend complaining that hes tired. I find it v hard to remind myself he is seriously ill when its like this because from the outside it just looks like he's a lazy git! Not good for the relationship - we keep having this conversation where he goes on about me having to remember to be patient and me going on that he needs to remember Im not a bloody saint. (for those who dont know my H has multiple sclerosis - diagnosed last year - so at times I look after 2 disabled people and Im just not v good at it)

It looks like I'm on the genetic testing road .. .. Does anyone have any advice ? ( scared )

Oh heck - I had a look at the 'what does your one year old do' thread on B&D and realied that no she isnt about 12 months in terms of development (except maybe her walking). Her communication and play are so far behind that it terrifies me.
On genetic testing my only advice is to step away from google and drown out the panic buzzing in your brain however you can. Booze, food, exercise, ginormous DVD boxsets, baking - whatever works for you.

I don't google .. It's way too scary!! ... We were told ds may have Williams syndrome about this time last year . He didn't but the googling and waiting sent me into a state of panic that I never want to experience again. I cope by sort of ignoring it( not entirely sure that is healthy) but until they say its such and such it's the only way I can cope . I hate those charts although he has done most things on time or on the end of normal scale he isn't walking or cruising at 14 months . Obviously there is more to it than that but don't want to bore you !

hello bishboschbone (that is wrong isn't it!? I may have to call you bish), please go on and bore us, it is what this thread is for

First - those threads should have a big DO NOT ENTER sign, in black and yello, like a crime scene. I peeked because of your post, but realised that it means nothing, absolutley nothing, because ds is doing what he is doing, and even though he is severely delayed in some areas - he is making progress, and it is a joy to behold. I have just recently come to the conclusion that the rest of the world can bend to us a bit, ds shouldn't have to do all the bending.

Having said that, we are on holiday at the moment, and i am aware of just how difficult it is when we are out of ds's comfort zone, he also had one of his choking fits last night, but this one seemed much more like a fit, with the side of his mouth drooping down, and his left side very floppy whilst the other side was rigid. it lasted about 15 minutes and was awful. He has been very tired and floppy all day. I wanted to rush home from holiday, but he seems ok a[art from the tiredness, so I have called our gp and she will call tomorrow, and made sure we know where the local a+e is.

Ds saw his paed today, he was very interested in the Kleefstra study and decided that as ds bears so many similarities to the syndrome that he will use it as a 'working diagnosis'. He referred us to a cardiologist, a specialist SALT, and a learning disabilities team (who will be able to help with behavioural issues -eg ds has started hitting himself and headbanging a lot, sometimes in frustration but also sometimes in a sort of sensory seeking way). He also listened to his chest and could hear some noise in an area, which seems repeatedly thickened on chest xrays. It is odd because the kleefstra thing seems to have kicked everyone up the arse a bit, even though it isn't officially a diagnosis, but it also feels a bit overwhelming.

sorry, meant to say hello to kate and Kmummy as well

We have just got our appointment through . I'm terrified ..:-( .. It wasn't supposed to be like this .

He will be four next march. We had his diagnose, classic autism. He failed the ADOS which was no suprise as he walked in the room and sniffed the balls

Been a very strange week, it doesn't feel reall really, I've 'known' from when he was a year old but to actually be told it is...well thats a whole different ball game.

Hi to new people. Kmummy - I really hope that getting the diagnosis turns out to be a positive thing for you and that it will lead to the right intervention and support.

I was wondering if anyone else has had 'delayed myelination' come up on an MRI. It has just come up for us and our neurologist kind of skipped over it as 'not a diagnostic indicator' and so I thought not that big a deal. However google suggests that it is a big deal (yes, yes, I know...need to stop with that, but me and Mr Google have an impulsive relationship. I swear I'm staying away and then one glass of wine and I'm all over him again.) If anyone else has had this come up - would you mind sharing what you were told about this (no matter how bad - I would rather know!)? It seems to offer an explaination for GDD, but I am not sure if this is something that can be caught up or not.

Having a bit of a down week on the developmental front as DS development stalled at 6 months. Now at 15 months we finally got our official developmental review - and was assessed at a 6 month level. I thought we had made some progress in 9 months...it would seem not.

The only way forward is a second glass of wine...

Thank you for any info!

Hi smiles Im not sure that being assessed as at 6 months both times means there hasnt been any progress. For us the assessments have been v difficult to implement and are guesses at best. So I know I have paperwork stating 6-8 months from points well over a year apart. But there has been progress in that time. Shes starting to play, beginning to say the occasional word, we have more of an indication that she has started to grasp what langugae is etc. Please do ask whether the 2 assessments mean no progress. Or if progress is just so slow it doesnt really register on those assessment charts particularly well.
It means a lot to know you are at least headed in the right direction so I would recommend saying goodbye to google and ring your pead for clarification on what the 2 findings mean.

Hi kmummy, i was wondering about you the other day remembering your thread that you were going to hear back on thurs, i see you did get the diagnosis then. hope you're feeling okay.

its been nearly 2 weeks for mine now and think im feeling worse the last couple of days then i was initially but still dont think ive really had time to process it because im run off my feet with all the kids anyway. i ended up crying a bit in playgroup cos my ds old portage worker came n asked how everythings getting on n i was so stressed out!! so bit embarrasing

suppose i dont really belong on the bumpy road to diagnosis thread anymore! but thought i would come along and see how everyones getting on

I finally did it - I filled in the dratted DLA form. I have the supporting docs copied, its done dusted and in an envelope with a cover letter. Off to post office after lunch. Its taken me a year to do this. But Im just glad Ive finally done it

well done on getting it done first timer!! must be a relief to have it over and done with. i am just starting with mine at the moment, cant wait to have it finished

Hello all and welcome new posters.

Just to say sorry I've not been on much lately. We have DS1s neuro muscular appointment tomorrow and Important pooing myself about it. Will let you know how it goes if Im not off crying into a pint of wine.

Good luck tomorrow Hanbee - will be thinking of you

Well done FirstTimer, such a good feeling when it is done, I hope you have had wine to celebrate. I can't believe I am going to have to do ds's again next year, really not looking forward to that.

Good luck Hanbee, I'll be thinking of you and keeping everything crossed. let us know how you get on.

Saw ds's gp today, who said she had spoken to ds's paed wrt the 'episode' he had whilst on holiday. He thinks it is likely that it was a seizure, and has prescribed epilim for ds. Gp and I both a bit in shock about this, as it seems so sudden. Don't really know what to think.

I had such a block about the DLA. At some level its my denial about whats really ahppening here and my feeling that I want to be 'good enough' to look after her without special help. Stupid I know and to some degree I feel guilty because this is actually her money and I have prevented her from accessing the benefits it could bring...anyway, its posted. Who knows what they will determine but at last its done done done. Firawla good luck doing yours.
Hazey - dont really know much about seizures except I know its something we are scared of DD having - she has been investigated in case her blank episodes are seizures. I guess the pead wants to cover her bases and must be reasonably sure as it sounds like epilim isnt straightforward in terms of its side effects. Take some time to digest and, if you need to, contact the pead for a more in depth explanation maybe?
Wishing everyone a good day - our DD has gotten over her ill-tempered phase and is being a total charmer at the moment. Just gorgeous, smiley, giggly, cheeky etc. Had the Ed Psych and this week's agency nanny in love with her within minutes

Hi all

Sorry to hear about the seizures Hazey. It must be so worrying, my DS1 doesn't have seizures but they seem so prevalent that I always wonder if they're round the corner.

Our appointment went well, fantastic doctor who dealt with DS1s so well that he enjoyed himself. DS1 doesn't have a neuro muscular condition and has normal muscle strength. He has been referred for an MRI, lumbar puncture and more blood tests which will all be dine under a general anesthetic.

Oh hanbee, glad you got back to us about your appointment. Good news that there is no sign of a neuro muscular disorder. Sorry to hear that an MRI and lumbar puncture are on the cards, what is the lumbar to test for?