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?

Mixed week: I dont think I got the job - they were informing the successful candidate on Friday and I havent heard from them. Sigh

But: we had assessment at new charity that provides early years ABA intervention - esp the Denver Method (there has actually been a randomised control trial on specifically this method in young children). And the assessment was good and we will be going ahead with a therapy programme with them.

I was impressed with the time taken over the assessment, how open the woman was about DD but also about what is available in scotland and what approaches have been evaluated, how she sees certain types of behaviour etc. Altho being clear she was not making a diagnosis, she said she does not think D has autism (certainly not any typical form thereof) which chimes with what I think. Thats both a relief...but then also concerning cos back at wondering what on earth it is.

I must say DD is blossoming at the moment - she brings me things she wants to play with (bubbles or stacking cup) - so much more like an NT child. So I feel a teeny bit hopeful - at the same time we now have referral to geneticist and for second MRI. bah bah bah! I hate them all!!!

Goodnight :P

New week: this is the week I do the DLA form!!

FirstTimer, grr about the job, how frustrating.

But yay for progress on the ABA front, and feeling positive about your dd. Do you have dates for geneticist and MRI? Has dd had any genetics tests? Do you know why they want to do a second MRI? Ooh, sorry I realise I have just fired a round of questions at you, please ignore them if you want!

Ds's chest is sounding ropey again, so we have spent the last couple of nights taking it in turns to sit up with him. But no temperature and he seems quite happy in himself, just very chesty.

I have somehow ended up organising a Team Around Child meeting, which is fairly daunting. I am just so frustrated by the lack of co-ordination, hopefully this will bring things together a bit more.

When it comes to the DLA form, treat yourself to something at the end of each day of writing it. I found it so hard to be as negative as you have to be.

Grrr indeed!

Bugger - re lil hazey being chesty. I really wish you could find a good way of addressing this difficulty. I imagine it makes life v tiring. (hug)

No date yet for geneticist - she had genetic tests that came back clear when we started the diagnostic process (no one ever really told us what she is in the clear for- I will request specifics I think all I know is she doesnt have Downs or fragile X). The referral is for a geneticist to determine whether there should be anything more specific to investigate. She has a big head - but then so do H and I (no one has said this among professionals but I think we do!)

On MRI we did one last summer and there are patches of white matter that we hope are a normal variation but they are now repeating scan to see if there is anything else to help determine what the white patches are. Not much fun but I am getting more laid back..(she says)

Organising our team around the child meeting has dragged and dragged - the NHS staff in our area arent allowed to communicate by email about patients and this extends to discussing when to book an appt - whoever dreamt up that data protection gem should be shot at dawn (ideally by me personally!) I hope your area has less daft policies in place.

OK I am off for a run and then DLA form - might have to have a whisky in the other hand!

Hazey, can you contact your PCT CDC and speak to a Physio about percussive treatment for DS's chest? It will help getting the muck up.
Good luck First timer with the DLA form. Cerebra is a good guide to use for filling it in. I would also photocopy it first and fill in the copy. Check your language through out. Use Better as opposed to good days.

Its bloody pathological. I ahve the damn form open on my laptop - I just cant bring myself to look at it. A lovely lady from a local parent support charity took details to help fill it in so its dated last Nov. I must must must just do it. No matter how much I hate it.

Firstimer and Mavis, check you have the latest DLA version. I printed one in the autumn and gave up, I then rang the DWP for one in March and was sent a completely different form that was much easier the complete.

Plus if you request one is mailed to you then payments are backdated to the date you request the form and not from the date they receive your completed version.

Good luck with it, mine was fairly painless when I finally did it.

Bloody awful bank holiday here.

In a stupid,'yes I know I am a dreadful mother' moment, I sat ds next to dd2 on the kitchen worktop, they both fell off, dd2 screaming the loudest, but ds covered in blood, which was pouring out of his mouth. Dd2 went into hysterical meltdown mode and shut herself in her bedroom screaming, dd1 (bless her) ran around trying to find things to mop up blood with, I had to get dh to come back from work. We managed to get dd2 out of her bedroom, and went to a+e, where they told us that they no longer do anything about teeth at a+e. So we have had to wait until today to go the emergency dentist, which is a 45 minute drive away (I can't drive, so dh has to take more time of work - he is very quietly fucked off). I think ds's teeth are ok, but his gum is very swollen, and he looks like a boxer.

On top of this his chest has got worse and worse, I am going to gp after the dentist. I asked the physio about percussive tapping, which she said she would look into before our next appointment.

And if I could just whinge a leeetle bit more, dd1 has been referred to the paeds because of her various symptoms (lack of weight gain, tiredness, stomach pains etc), and I had to leave her at school in floods of tears, it's horrible. Oh and I have to talk to dd2's teacher about dd2 and her writing and reading, I know nothing about dyslexia, but i am starting to worry.

Everything feels a bit crap!

((hugs)). Ring me if you want to offload. X

Hazey - it happens - even to the best parents. Many many hugs. PLease come and off load more if necessary. What a drama.
On your dd1 - may well just be stress - I used to be like that as a child. My sister is quite heavily dyslexic - with the right support children find work arounds that compensate for what they csant do and often dyslexia makes you very interesting in other ways (my sis is a v successful artist) - still cant spell but who cares? I think understanding of this and how you support is has improved hugely over the past decade and a half. Try not to worry (too much)

Hanbee - I take up the challenge. Will have done that dratted form like you hvae by friday! Aaaaaaaaaahhhhhh! (

Didnt mean any of the above to sound light - or even dyslexia is so 'special'. Just rushing a bit. I hope you feel better soon

Oh Hazeyjane poor you that sounds stressful! Hope DS's teeth are ok and that DH gets over it, sure he will soon if he's like mine, it tends to be me who holds a bad mood longer!

I have a genetics appointment this afternoon and have had XP asking does he need to go, he really does as its genetics. And have DD off school with a leaky urine problem which I am worried is to do with the surgery she is due to have in a few years(part of her genetic condition). So she will be going to school with sanitary pads for the forseeable future till its sorted, was hoping it was an infection as then it would be quicker to sort but GP doesnt think so. School are fine with changing her pads though which I am really grateful for so will be sending her back in tomorrow, just sad for her as she actually potty trained in day time at a good age and its something she's always been good at iyswim.

On the plus side she learned to ride a bike this weekend!

Thankyou for the sympathy, after my mammoth whinge!

Dds in bed, ds nearly asleep, and wine in the fridge waiting!

ds saw dentist who said his gums are to bruised and swollen to assess properly, but his teeth look undamaged. Although he did notice that his gums at the back were inflamed as a result of reflux. Gp listened to his chest and said it sounds clear.

Amazingly we got home from dds swimming lesson, dd1 did a roly poly off the sofa and knocked her front tooth out!!

We are jinxed!!

How is the form coming on??!!

Used2, that sounds very hard about the leaking, thankgoodness the school are being ok about it. How did the genetics appt go?

And big well done to your dd for the bike riding, how lovely.

Oh no about your DD1's tooth!

Thank you, DDs genetics appointment was ok . She wasn't convinced about worcester drought but was going to run it by a colleague at a meeting in two weeks. She put dd forward for the ddd study but said not to get my hopes up about diagnosis. She also put dd's name on the decipher database as the chromosome deletion found in me could be relevant as the other child with the same deletion (and with GDD) had a mother with the same deletion who was unaffected (like me)she just said there isnt enough known as yet to find cause for a lot of children.

Bit disheartened tbh, it all feels unfinished but the issues don't go away, and no idea how life will pan out for dd.

It must be very hard to have reached that point, Usedto, I feel as though we are all in limbo, the frustrating thing is when you get a bit of an answer and it just opens up loads more questions.

A friend's ds had his genetics results back, but he is the one and only chromosomal disorder they have on the database, so she has reached that point of having an answer, but still being in no man's land as far as what the future holds.

I am finding the wait for the results from the geneticist unbearable.

We are seeing ds's consultant (finally!!) next Tues, I have been writing down the questions we have, it is nearly as long as my thesis!

Ds is a mass of bumps and bruises. He is constantly falling and bumping himself, even if I am there watching like a hawk, he does this thing where an arm or leg will give way, and he just crashes onto his head or knees or the nearest hard object - at the moment, as well as his swollen lip/gums, he is also sporting 2 bruised knees and a massive egg of a bump on his head. He hasn't taken any more freestanding steps, but I'm now dreading it, because he's going to be black and blue! I remember the girls doing this to a certain extent when they were first on the move, but ds seems to have no way of righting himself, and all his strength goes so suddenly that he just collapses with a crash.

Hope everyone is doing ok.

The limbo bit was awful, it is strange now that I am not expecting any results back, it took up most of last year, I am not sure how I will adjust to thinking there may be no answers. But I don't miss the waiting bit.(still wait for post each day in case though)

The geneticist said DD's issues could be environmental (in response to me asking about the birth)but she felt that they were not and that the chromosome deletion could mean something but there isnt enough known to know what yet.

Still feel really unsure about worscester drought but I understand she doesnt want to give a diagnosis that could be wrong-I emailed the national contact from the condition and they said that GOSH is the place that knows most about it as lots of clinicians don't. Which makes me wonder if we could be referred there but even if she did have it I think its a cause unknown type thing and wouldnt change much.

Tough stuff all round - I cant imagine what it would be like to be were you are now usedto. Finally feeling you are getting to the total end of the investigative process but still no answers. I keep thinking limbo is on the way to something but then sometimes I think for most of us limbo is on the way to more not knowing (or not knowing anything concrete that lets you think you ahe some idea whats going to happen)
Hazey - is he breaking his fall at all? Putting an arm out as he's going down - apparently thats important in terms of is all the crashing about leading to better skills eventually.

I have done 1.5 hours on the blasted form. About 1 hour it was grim but cathartic just writing it all down in its horrible glory. Now its getting draining and depressing.

Oh bugger - just has a look at the baby milestones thread...jeez I had no idea they do all that...I should know better than look at other threads on here.

Well done on the form. And stay away fromt the milestone thread-I am always shocked when I hear children 3 years younger than my dd chatting away and always think they must be really advanced! Its horrible I prefer the bury my head in the sand approach!

Yes I am a bit down at the uncertainty, just torturing myself with hope but then I suppose the hope bit would never go away and is positive in terms of getting support for dd. Sick of trying to describe her issues though its such a stupid list of symptoms not a real diagnosis if that makes sense.

I do understand your frustration of having to describe symptoms rather than getting the short-hand (and in a way) the validation of having a label. Sigh.

I a considering volunteering with an organisation to gte my edge back workwise. I have been off work or working from home for so long that I find I lack focus and drive. I dont know if its a good idea - to some extent Im embarrassed- I used to be pretty good in my field. Nowadays I feel I am inches from the scrapheap.

I've long believed that the best thing to do is to "celebrate the small things". Treat a new development as a milestone, rather than be downhearted by the progress made by the seemingly precocious three year olds that you see from your Baby Group days.

If my 5yr old DS has a dry nappy overnight, and then wees in the loo in the morning I am full of praise. That's a success in my eyes.

Re the dla form, we ended up going to stay at my fil's for the weekend so that I could lock myself in the office to finish it, away from all the distractions (ahem, mumsnet).

Sally is right, I looked at the baby milestones thread, and thought, 'meh', when ds achieves something we are working towards it is so huge that my heart grows a size. I remember one of the paeds saying that everything is that much more of an effort for ds, it is like wading through treacle, and it all exhausts him, so to see him crawl or roll or pull himself along is just a huge achievement. Don't get me wrong when the dds hit all those milestones, I was over the moon, but with ds it is a totally different thing. Honestly we have so much to be proud of.

Ds doesn't put his arm out to save himself, and when he falls it is a real collapse, he has intermittent muscle stiffness, and I think the muscle suddenly gives way, his arms are quite weak so he just falls straight on his face.