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?

Oh poor you the waiting is just dreadful isn't it. Very willing to drink (virtual)wine and eat brownies! DD has learning difficulties, and I have been warned it is severe enough that she will probably always struggle with speech and language memory at least but we won't know the extent for a while. Somehow the term learning difficulties really upset me when I saw it written on a form for an EEG she was having. I think with this kind of thing no matter how much you try and get used to it its still shocking. Sympathy and chocolate from me!

As for the DDD study she said she will explain it further at the appointment and that DD is eligable for it, is it a huge study then? I will try and google it now I think, first I heard of it was on here from you!

Always happy to eat brownies and drink wine, missmavis.

It is terrifying to have to wait for the results of something that is tangible and googleable. When ds was being tested for spinal muscular atrophy, I had convinced myself that this was it and that we were going to find out that ds had a degenerative disease, and I would sit up with him in the night googling and panicking.

Until I spoke to you Sally, I hadn't realised that a recognised condition (like Treacher Collins) could be missed in genetic testing. I had assumed that the tests would pick up known syndromes, or at least the specific chromosome.

I was worried about mentioning the syndrome (22q13 deletion) that we had noticed similarities to, to ds's geneticist. But she was really open to us suggesting it, and said to email any other thoughts we had.

I was interested that they took photos to show to colleagues at ds's appointment, do you think that is how they thought about testing for that particular syndrome, Missmavis?

Ds's geneticist said that he would be put forward if his array comes back clear, She said it involved 12000 children, and was longterm (she wasn't specific about length of time)

Me

I keep writing posts and then something happens with comp/internet and they disappear and then I am too tired to write another.

But have meant to say over past few days
-big hug to hazey - the fits/choking must be terrifying.
-to usedto and mavis and others(?) good luck with the genetics. I dont really understand the intricacies of testing. We are getting referral to geneticist this summer for more in-depth testing.
-big sighs all round about waiting for services, tests, improvements. It all takes sooo long!!! Fingers crossed for good stuff.

We are having some sensory integration therapy from OT and I love it. DD enjoys it and last week I could see some serious improvement in her fine motor skills after. Its 6 weeks of 1 hour a week which means I am getting lots of face to face time with the OT who is clever and explains loads to me about what she is doing and why and helps me see things in how DD uses her body. Lovely OT is also quite frank about services and how suited they are to DD and other things. I talk to her about stuff I am struggling with and she actually gives advice not just the bland statements I often gte about things that feel a lot like being fobbed off. I will miss this when its over.Its so nice t have someone who can actually help me. I wish someone like this into all your lives - even if it is just for a few weeks

Oh and from bitter bitter experience I say to everyone - step away from Dr Google - he is not your friend.

Thanks - lovely brownies. I need to go to bed as early start tomorrow but big hug to you out there missmavis

There is a website for families who have been asked if they want to take part in the DDD study, www.ddd.org.uk . I just found it and it does look interesting. They aim to get back to families after a year with anything they have found-but the results of all of it won't be put together till 2015. I liked that they recognise they importance for families in a diagnosis on the website. So may professionals have the approach of saying labels are not helpful.

I love our OT too although we don't see her much (also for sensory integration). she is similar to yours in that she actually makes me feel we can change things for dd.

I don't understand the whole testing thing either, I think there are just so many conditions they start by ruling out the most likely. We are having the photos taken again at this next appointment and going over everything to see if there is aything else they can think of.

crossed posts mismavis! DD had a low hair line and something to do with her thumbs as well as the small head size. Which I told the geneticist the neurologist seemed unconcerned about and she said well i think DD DOES have a small head.

I think its really hard when so many things over lap with conditions but its best to know, just horrible waiting and yes, google can be confusing and terrifying. When dd was diagnosed wiuth her genetic condition one of the first things they said was don't google it, information is often out of date and alarming. Of course I did it anyway obsessively but tookm there advice to only go on the registered charity support group for it first.

Was called away by a snot covered, coughing ds last night, then as soon as he had settled down, I heard a noise upstairs and found dd1 wandering around upstairs, sobbing and saying she couldn't find her bunny (she sleepwalks)!

Can i just say, BEETROOT BROWNIES???!!!!! really? I am very curious - I too am a stress baker (dh is a stress shelf builder - our house has shelves full of books on every wall!) and i am ashamed to admit that we usually have several batches of cookies, cakes and bread on the go at the same time, I make far too much so have to give most of them away. I will have to get the recipe for those.

Thankyou for the hug FirstTimer, I am so glad you have found a good OT, that is great.

I know you are right about the google thing, but I think as long as you don't get carried away, it can be a great resource. I tend to google with our gp, who then tells me which bits are the bits to avoid, and which bits might be relevant.

Ooh yes, I like the idea of an angst based bakery/cafe.

I am at present baking apricot flapjacks and cooking butternut+chorizo soup to a soundtrack of The Smiths (perfect for stress cooking),while ds snores in the room next door, it is very comforting.

I have a shiny red kitchenaid - it is like my 4th child, I love it, and when I am feeling particularly grim, I use it to make bread then give it a good clean and polish!

Nigel Slater's Black Banana Cake. Hideous title, but oh so delicious!! Going to make some with my Kenwood Mixer! recipe here

I am envious of all you stress bakers! I am the opposite and tend to cook when I am happy. Instead I am a stress shopper which is far less helpful!

In the same ways as avoiding baking beetroot brownies with a 3 yr old rampaging around, can I also add -giving a boy who only eats with his hands soup to eat - this is not a great idea.

I hope everyone had good days.

Blimey, you disappear for a day or two and it takes you half an hour to catch up!

Used2 I also cook/bake when happy. I find baking with two small boys around too stressful as they just run around emptying any draws and cupboards that we can't fit latches on and lobbing the contents around the room (DS2's latest favourite is chucking things and shouting "GO!", very loudly).

Wish I could bake with them around though, it's one of my fave things.

Ed Psych wrote v long report on DS1 which essentially "got" him but missed loads of things he could do and placed his development in 8-20 months (huge range, he's 3 and a half). Essentially I knew this as he's around the same stages as DS2 who's 18 months. Still felt weird seeing it written down though.

Mavis I read your blog and felt v jealous of orange saying Mama. It must have made you feel so warm and fuzzy. Worrying that DS1 may never say Mummy is one of things that's always really upset me.

Hope you all have a good weekend.

I logged on here to browse recipes as am considering a spot of baking with DD funnily enough! Its pouring with rain and my car is broken and pay day isn't till mon so its going to have to be a wellies and park or home stuff day, DH is at work. I rarely do it as DD is so quick to lose interest and will also start opening drawers, pouring flour etc etc no doubt! Feel like I should be sorting stuff out, things have no order around here (think my hormones are making me care!) but will leave it till mon when DD will be at school.

Hanbee, seeing these things written down is so hard. DD had an assessment by the paed at nearly four with some scores at around 18-20months it was devastating-she was a great paed and warned me it would be tough reading, even prepared me that it would say profound difficulities and said to bear in mind its best to be able to show how much support she needs. Also it said nice things but it still stung, a lot and took me a while to get over. Sounds like you are not feeling great, hope the weekend improves and you can do some nice stuff to take your mind off it all. xx

Maya stood unsupported today!!! Few seconds at a time, did it several times. She seems almost dazed by her own acheivement.
We have been high five-ing all over the house

that is fantastic, firsttimer, i am grinning like the cheshire cat!

How is everything going?

Things are good today. Still very happy about the standing.

I am really impressed your GP helps you with identifying decent sources on the internet.

I am having a good streak at the moment. The lady I found online who does ABA up here - specifically the Denver Model early start stuff - has set up a charity whcih means it will be a heck of a lot cheaper than I had feared. We have a (free!!!) assessment next sunday.
Alos I have a job interview lined up - I think you saw my thread? - and someone on mumsnet has amazingly sent me a bunch of really great dresses for it. Makes me feel hopeful something will come of it.
I daren't hope too much because if I dont get it I will feel really aware of how precarious everything is for us just now. Genteel poverty round here at the mo.

Part of me is a little scared of getting a big job with DD needing so much input but I think my H can take over a fair amount of that and the extra money will be worth the extra stress. I dont know how anyone else manages to reconcile the SN and work - might start a thread one day...its an issue for me as I feel worried I might miss something crucial because I was busy..
But today is a happy day.

How are you doing? Ive been wondering what is happening on feeding tubes etc? I thought the suggestions on clingyness were good in terms of reminding you that its their job to advise you on this.

Anyway - need to go prep for iv and all
Cross your fingers for me on Monday around noon.

Briliant firstimer! I have just finished work for mat leave but the SN stuff was ok, reasonably supportive workplace and I got carers leave for appointments or time in hospital etc. I felt torn sometimes but actually it helped provide a different focus which was helpful. Good luck!