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?

Ouch - dont worry I know exactly what you mean about how it feels good to find someone whose child sounds like yours. Its just so puzzling and even coming up with ideas on what to do is really hard. On the functional learning - we are currently 'on a break' - I have mixed feelings about it. Some of it makes sense but I do feel its under researched and I hvae qualms about making her do something she doesnt like doing - she kicked up such a stink that we just couldnt face doing the daily sessions with her.

Mavis - try to go easy on yourself. I am now starting to think that you need an 'in' with a child to do an activity otherwise you can repeat and repeat but its just over their head and all you do is wear yourself out. I find the less good of our therapists just go on and on about repetition in a way I have decided is unhelpful. I dont see the point in endlessly doing something she is ignoring - for me now its more about being able to spot the indications of interest and communication attempts (and they are subtle) and then trying to build on and expand these into something that looks more like play. ON that basis I have ditched lots of signing and getting her to feed or dress herself. We do a bit but then I do the rest. I think I got to a therapy overload point before. You sleeping ok etc - maybe see your GP for a check up or have a day out with friends or something to recharge you? Your posts and blog def show me someone who's doing a huge amount [hug]

Dev, I have sent you the feeding stuff, Hayzey pm me your email :). Firtstimer, you wrote beautifully, it is exactly like that; if the child is not tuned in, it brings more frustration than positives. My child unfortunately is never tuned in with NHS stuff haha, they always see him at his absolute worst. Thank God for private therapist, she can really engage him.

mavis have just read your wonderful blog, the picture of beep and orange with the pox is just lovely. I know it shouldn't be because poor orange is covered but beep is looking at hm so adoringly it made me melt just a little bit.

When I saw the paed last week she made a point of telling us to make sure we treat ourselves and make sure we get breaks. I wanted to kiss her for recognising that we are still caring for a baby baby, not a 'normal' (I am starting to hate that word) baby, and that it is physically and emotionally exhausting. mavis are you moving too? No wonder you have hit a wall, treat time I think, drs orders!

Mavis, so sorry you feel so wiped out. It gets me like that too. I have surges of energy, most of the time bimble along fuelled by coffee and chocolate, and then I hit these slumps, I don't even notice i am sliding down, but all of a sudden i am in a pit. It is awful.I saw your spa thread, sounds like a good idea. I promise, if I ever win the lottery then I will buy a beautiful rambling old house by the sea, that will be open to all the parents that find themselves on the sn boards, and I will insist that every one goes there for a few days rest every year.

I have written down everything that fucked me off about monday's appointment, and have left a message for the physio to call me. i'll e-mail if she doesn't call back today.

Hopefully I have sorted out weekly transport to ds's hydrotherapy session, i was panicking that we wouldn't be able to get there (i can't drive and it would take 3 buses to get there), but have been in touch with a local transport charity who have said they should be able to arrange something...I am keeping my fingers crossed.

I know just what you all mean about the lack of interaction. It was one of our biggest worries in the early days, ds was just so vacant, I have loads of photos of him, lying on a blanket on his side (hated being on his back or tummy) just chewing his hands, staring into nowhere. He still has lots of very blank moments, where he just doesn't seem to be there. I took him to a baby massage group when he was about 8 months old, all the other babies were newborn-3 months and ds was so still compared to them, he just lay there. I persisted because it really seemed to help his reflux, but I would sit in the park opposite crying my eyes out after every session. His interest really improved when he was able to sit, so between 12-15 months, he still showed no interest in toys though, that took our involvement.

We cleared out all the baby toys when we realised that they just seemed to overwhelm him. If there was a toy at sn nursery which interested him, then i would get it on ebay, and I focused on the things that he really seemed to enjoy, a big washing up bowl full of different sized balls, taggie blankets and material, paperback books (sounds odd, but he likes feeling the pages). A couple of months ago he shook a maraca at music - the first time he has ever shaken a shaker or banged a drum, so i've just got aload of bells and cheap shakers and he really loves them.

The things that i loved doing with him most was swimming, watching a music/signing dvd with him on my lap moving his hands to the signs, and walking walking walking (me not ds!)

Babiki, thankyou so much for your email about the feeding salt report. I think I am going to push again for a more detailed report to be written about ds, he is so limited in his diet, especially as he has stopped eating any mashed/ chopped up meals - he basically eats crackers/biscuits/breadsticks+soft cheese, melty crisps, sweetcorn, toasted bagel/bread with jam or soft cheese, yoghurt and bran flakes topped with fruit puree.....and that is it. i try him with new stuff every day, and it all gets thrown in the bin. We know he has a very poor swallow and he doesn't move food around in his mouth efficiently, as this was shown up in the videofluoroscopy. But the only advice we have had (apart from the woman who did the videofluoroscopy recommending he have a gastrostomy!) is to try different foods, give him thickened liquids, offer him a chewy tube (I have bought 3, and he doesn't chew any of them!) and get him to try blowing bubbles, into a kazoo etc (he chews these!)

I spoke to the physio yesterday ( i posted about it on the thread I started), ande we are arranging a meeting with me, dh the physio and the ot, to discuss what happened and where we can go from here, she said she would understand if i wanted to send an official complaint, but i really just want to work out the best way we can all support ds and get him the help he needs - why it has to be such a bloody battle is beyond me.

Hope everyone is planning a good day and a good weekend.

I am so sorry everyone seems to be having such a hard time at the moment.

Ouch - It is awful having bloods done, but don't feel guilty for not stopping them. I let an inept doctor spend 3 hours trying to get a canula into my screaming baby before I finally told her she wasn't touching him again and they got an anesthatist (who did it in 5 mins). I felt awful for a long time, but its so hard when doctors are insisting things are done a certain way.

Hazey - I am sorry you are having such a battle with support services. I feel like I am in a constant fight at the moment. On the one hand I am so grateful to have NHS intervention, on the other hand I am so angry at how certain things have been done. It is really hard and I hope that there is someone somewhere in the system who can be your advocate.

My son has now added sleep aponea to his list of symptoms - great.

Hi everyone, Sorry for being so quiet lately. I've absolutely knackered at the moment, I had not realised what respite DS1s preschool hours were for me, this week I have had two days where I've been on my own with both boys for 12 hours or more and I now feel totally exhausted.

More stressful socialising has a occurred (I will not give up! I will not!). I think when firstimer wrote about biting being a signal that her DD was stressed that it really tuned in with how I feel about DS1. His hair pulling and tantruming is really because he doesn't know how to cope/interact in a social situation so I figure the only solution is to keep going and support him in these situations as much as I can until it's easier for him.

Hazey, the OT and Physio situation sounds totally wrong to me and bit like they ganged up on you. I'm a big believer that any sort of controlled crying doesn't lessen anxiety or make children more independent it just makes them give up on trying to get attention. If it felt wrong to you then they should have respected that.

I totally agree that there is little point to "therapy" that child hates, that why I loved our portage worker so much as she tailored all of her "games" to DS1s interests, so matching would be with pictures of vehicles etc. My Mum used to work for the Preschool Learning Alliance so I'm indoctrinated that all learning should be through play!

Talking about SALT though, DS1 has only just started to be able to blow bubbles (at 3.10) and he learnt the skill by learning to blow out when his mouth goes into the swimming pool water. At the same time he started saying mmmm sounds (more, mmm (moo), mama). So maybe trying blowing bubbles in the bath or pool too? Also I've had success the the chlidren's yoghurts you can buy from supermarkets that come in a pouch with a plastic spout top - great for sucking something really thick!

One another, more cheerful note, our business (4 holiday cottages) was reviewed by one of the Mumsnet staff and it's now up on the interweb so you can all go nosey at it if you fancy. Just search for Tregrill Farm in reviews. Sorry, just wanted a quick boast as we've worked so hard on them and to get in a good baby and toddler scheme. Yay!

Hanbee your cottages look amazing!!! Hazey yes all new food goes straight onto floor here as well :) I've been hunting senco coordinator for our preschool to find put if the funding has been arranged and she didn't know... So I applied for assesment for statement, I feel surrounded by incompetent people everywhere and just like somebody wrote it's just exhausting, the surges of energy and than tiredness are very similar plus sleep problems. I've also printed the Swan uk forms, perhaps we could meet at one of the meetings :) I know some people with sn kids, bit they are all much older than ds, it would be nice to know somebody in rl in similar situation.

Ohhh will toddle off to have a look at your cottages. We had a weekend w/out H and it went ok. I am rather tired today and there was a swimming pool meltdown but she is just managing better all round. Then I mucked up todays appt so portage turned up to find lil miss out with nanny. Sigh. I keep doing this and its embarrassing. Alos turns out we have out next team around the child meeting next week - feels like this never ending stream of things to do...I need to start eating better again - I am back in the coffee sugar trap and feel worn out

Hanbee - with the biting the OT explained about bits of the nervous system under the chin, neck area having a role in calming you. Maybe hands have someting similar. Think about how your jaw and fists clench - its kind of the same process.

Genetics nurse coming round later to do second cheek swab, as the first one didn't work properly - they make it look so easy on CSI!

I'm hoping the nurse might have some info on the Kleefstra test, I keep puttimg it out of my mind, but it is really getting to me today, like a horrible itch that needs scratching.

How'd it go Hazey?

grrr, rushed back from girls swimming lesson to meet nurse, and there was a message on phone to say that the ward at local hospital had messed up the kit, by leaving it out of the fridge, so the nurse would have to get Oxford to order another kit, and when that comes she will try to come round, meaning another few weeks of waiting.

Hi Hazeyjane, can you toddle up to the Churchill and get it done there? Very irritating.

Hello SallyBear, unfortunately because I can't drive, a trip up to The Churchill, would mean dh having to take time off work. I think from the message that this particular kit has to come from somewhere else, the nurse travels between Oxford, Swindon and drives past us every other day (which is why she was lovely enough to come to our house!) Anyway, she said she will call me tomorrow, so hopefully we can sort something out then.

What a pain, we had a similar one once when DS2 had a kidney scan. An inept nurse took four attempts to get a canula into his hand by which time the radioactive stuff had been out of the fridge too long. We had to come back a month later to go through it all again. I was v v angry.

I hate it when someone spends 10 stabs getting 3 drops of blood - only just starting to get better at saying 'right thats enough you clearly arent good enough at this so get me someone who can do this better'. When DD was 2 weeks old some junior staff spent 40 mins torturing her with what I expect was the wrong size needle - only afterwards did it dawn on me I could have said no.

We have a hearing test today - and team around the child meeting next week. Plus the usual round of appts. Some weeks it feels like such a drag. I was watching my friends daughter do puzzles - shes 4 months younger - it still blows me away. We are still working on getting DD interested in the shape sorter....I dont know, the walking has got things feeling more 'normal' here but realistically I guess we are far from normal still. I wish there was an off switch to my worry function.

Hello Mavis, sorry to hear you are so worried. I am not sure whether ds has absence seizures, we have been querying it since he was tiny, because he does have a lot of blank episodes, and with the nightime episodes he has, his paed thinks it is likely he may be having seizures. It is also a feature of Kleefstra syndrome, and I know that seizures can start at any time.

I posted on this thread about it recently, and there were some interesting ideas on there, and very helpful posters who you could maybe pm?

The things i would say are these

-if you can, could you film what you think maybe an absence seizure on your phone?
-try the 'cotton wool ball test', madwoman in the attic told me this - which is basically to gently throw a cotton wool ball at orange when you think he is having an absence (I'm sure the beep would enoy this!) as far as I know, during an absence, there will be no response
-apart from blankness are there any other things that happen when he is blank - fluttery eyes, strange breathing, clamminess? is orange especially tired afterwards
-zzzzz on that thread suggests keeping a seizure diary (fun!) i have started doing this with ds, and basically note down anything that i think is worth mentioning to the paed. Zzzzz's post on things to note down, on the above thread is very helpful.

ds often has moments when he goes blank, often for quite a while, he is often tired and clammy after it happens, but his paed is still undecided as to whether it is a seizure.

He has had an eeg, but this only shows traces of recent seizures, so isn't conclusive. As far as i know there is medication for certain types of seizure.

Ds's physio also recommended that we do an infant first aid course to learn resuscitation techniques.

Maybe start a thread, there are so many helpful people on here.

to you too, FirstTimer. Have you managed to find any local sn groups? I feel so much better about the comparing thing, now that I have a friend with a ds who is so similar to ds.

Hi Mavis - not much to add - DD has blank episodes that pead investigated for absence seizures w eeg. That came back fine but eeg is inconclusive for this. With age her 'thereness' generally is getting better and I see less of these blank staring episodes. I think she is processing sense data and shutting off when overwhelmed. In her case is a matter of seconds (maybe up to 20 secs?) - she looks like shes sleeping with her eyes open typically she is looking up into a corner of the room. Nothing else noticeable except it seems like she isnt 'there' - I cant pinpoint exactly why but I know it when I see it.
[handhold]

hazey - will try more sn groups now that term has started again. Its just hard to find something at a time and place that works around everything else and when I do it turns out that group closed years ago!

dammit couldnt do hearing test as DD ignored all toys - [glum]

Oh how annoying, ds did the same and they had to redo it. Have they said whether they will try again?

Mavis - we have the same thing going on at the moment. About 6 weeks ago DS suddenly started to have episodes where he would go blank. Everyone noticed it - OT, Health Visitor, Even the woman helping us with our DLA claim who had never met him before. Seizures were suspected as around the same time he started having jerking episodes and apparently the two often go together. But our EEG was normal.

The best was I can descibe it is like a complete energy failure. If I lift his arms they just flop. But his eyes do move. Its like a temporary body paralysis. Just hoping they will start to improve.

They will send us another appt - Ive requested an early morning one as shes generally brighter then. Will take 2-3 months. Its more a check than that there are real concerns about her hearing.
Afterwards I had one of those outside moments when I saw her toddling around Lidl the way someone else might see her and just realised how 'disabled' she looks (I dont really know what a good word to use is for what I mean) But there are all these slightlly convulsive hand and arm movements - kind of spastic (in the medical sense)- and this blank unfocused-ness in the way she looks around. I dont notice this much usually, to me she just looks like herself, but from the outside I suddenly realised she really doesnt look 'normal'. There's been so much progress recently that I have been hopeful she will somehow outgrow her delays but yesterday I just thought 'no not normal, I dont know how disabled but she is just not like an NT child and probably wont ever be'..