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?

had forgotten in all the chaos of the last couple of weeks that ds has an opthamology appointment today! This wouldn't normally be too much of a problem, but it is half term and so will have the girls with me. I am aware at the moment that dh and are having to concentrate on ds a lot, yesterday I had the hv come over, and 3 phonecalls about various appointments, and the details of the Kleefstra study came. So i feel a little bad that a large part of the day will be spent at the hospital, but we will do the cafe, and I will give them jobs to help ds. But I think it could be a long day.

How'd it go Hazey?

Lumbar puncture is to look at the chemicals in his cerebral fluid that allow messages to be passed from brain to muscles. Sounds scarey but is really only the same process as an epidural, but removing a tiny bit instead of putting in a painkiller. My gut feeling has always been that DS1's issues are about messages from brain to muscle as he often seems to know what to do but can't get his body to do it, so it will be interesting.

eye appointment was a non starter as ds was so tired and grumpy that he wouldn't look at the pictures or toys, so we have to go back in 2 months.

Do you have any idea when they might do the lumbar puncture? It sounds as though it may provide some interesting answers.

How is everyone? It has been quiet here lately!

What a shame. We have similar with hearing checks, DS1s never co-operates.

All I know about the lumbar puncture is that it will be done under general anesthetic at the same time as the MRI.

It is quiet......

Thanks Firstimer I know he has made a little bit of progress, it is just painfully slow. We didn't have an assessment at 6 months - that is when the developmental delay began (along with a host of neuro symptoms - apparently common with some genetic conditions not to show symptoms for 6 months). Nine months later it is like his development has just stood still. Its frightening me to think where we could be in another year. I am just hoping that a medication will control his movement disorder/possible seizures and that this will lead to developmental progress.

Hazey Sorry to hear about the seizure. At least you have got the meds and fingers crossed that they work.

Hanbee We have also had a lumbar puncture (two in fact!) but nothing showed for us. In our case it was to look at neurotransmitters and also to rule out metabolic conditions (DS symptoms were v similar to one metabolic condition in particular, but came back neagtive.) Glad you are getting Lumbar puncture under general anesthetic. Our first was under GA and second was under sedative.

Rum Thanks for the info! We have been told to expect another MRI at around 2 to see what is happening with the myelination. The screaming seems to have calmed down for us over the last week - hoping it was some kind of phase and will transition to something more babble-like!

We had our 6th EEG last week and made a major error. DS has only just started getting proper hair at 15 months and with all the last EEGs I have spared him having his head rubbed with horrible checmicals and just washed off the glue in the bath. Turns out this doesn't work when they have hair. Five days post EEG and his head is absolutely covered in glue. He looks like a little sparrow who has fallen out of a nest with bits of hair stuck together in tufts. I can't bring myself to cut it out though - its taken 15 months to get this hair! Thank god its cold enough to put a hat on him.

Hope everyone is well.

Hi everyone
Just wanted to wish those of you with invasive tests happening soon luck with them and I hope they go as well as they can.
Nice to hear from Rum good to know you've made it to cornwall and I hope Orange's seizures are getting better in some way.
Shame about the eye test hazey its so frustrating when you take all that time to try and get something tested and then you just cant do the actual test.

We are having a better time of things, mainly because DD has cheered up a lot over the last ten days and has been a wee charmer. Lots of smiling and fun.

Visit to the first special nursery I visited was a bit mixed. The facilities are excellent and the headteacher was lovely. Intelligent and warm and treated me like an adult (always good) Plus the girl clearly liked her and gave her a massive drooly smooch (thats actually a huge plus - the girl has excellent taste in people and I know by now that persuading her of someone is a lost cause. She's usually right!) Also the space and how they use it strikes me as a good set up in terms of not being too cluttered etc I have the impression DD gets overwhelmed when theres too much stuff about. But the most of the children there are very severely physically disabled and I wonder how that will impact. Its strange to think she might be the most able child there in terms of gross motor skills. Although I think I might need to see her interacting with the children there and see how that works - some may be cognitively well ahead and I feel I have no expereince of really seeing how the children would get on and do things together (ish). I think I still have something to learn about all that.
Its early days yet but I didnt feel an immediate connection with it - altho that would be a bit unrealistic. At least it looks like a workable option - unlike the children and family centre where I felt doubtful of the staff from the very first meeting. Anyway we have a few more to see and the whole assessment process and actually getting a place (they are quite few). Long way to go still.
I hope the glue is slowly comeing out of your boys hair smiles and that everyone is keep there heads above water

Now that I read my post back I realise that the special nursery was actually really good to visit and a good option. Despite having my girl I notice I am still taken aback by the level of disability in the children we come into contact with at SN places. Sorry if I offended anyone, it just takes getting used to for me still. I still have things to learn I guess

Just had excellent conversation with HT at the SN nursery. I had wanted to ask if when I came back with H we could spend some time w the other children there as well and see how they interact with each other/staff and DD as just felt out of my depth. Talked all that through and she acknowledged the peer group thing and understood what I was wondering about and that it was a drawback. Then she explained how the other SN nursery tends to have children with a wider range of abilities. Ive looked at the second SN nursery website and they have a lot of children who look like our girl. I can see in the photos how they hold their hands like her and arent looking at what their hands are doing just like she does. Im v excited about this - could really be the place for us. Visiting there end of Nov...honestly cant wait!!

Thats great news Firsttimer. Sounds like a fantastic place. Hopefully uout visit goes well and you find somewhere that you can leave her without having to worry at all.

Can I ask how you found your SN nursery? I am trying to find oe but getting nothing for our area on google. Is is something that the Disabled Children's team in Social Services could help with? I was thinking of giving them a call, but its a bit complicated as we are about to move areas, so we are technically not under them yet. Thanks!

Smiles I mentioned being at a loss about schools etc at our last team around the child meeting. The parents of DDs peers are all looking int the feeder nurseries attached to various schools. These take children from 3 for pre-school. As a result the VTSS (portage) worker has talked me through the various SN places available across our city and we are visiting them all over the next few months. An Educational Psychologist will now collate input from all the therapists, and doctors, assess the girl at nursery and home and assess us to compile a report about DDs educational needs. SN places are in short supply, we will have to apply and see what we get. The whole process is set to take a while and none of this really kicks in until next summer. But its nice to see a new phase dawning. Once I knew the names of the special schools I could find them online, before that I also found nothing (they must be a bit hidden somehow).

At present DD attends a mainstream private nursery 3 days a week. They have been brilliant with her and she effectively gets one to one support. But the next room up at nursery (3-5s) will probably not work for her there unless we can arrange additional support. There are more children and the set up is more difficult. I will need to talk with them about what we will do when she turns 3 next Feb. I'd love her to stay there for a bit longer as shes so happy there but it will need to be in a way that is manageable.

Hello all.

Good to hear things are so active on the school front, First. We are going to have a look around a special school in the next few weeks, ds is going to mainstream preschool, but his portage worker and SALT thinks he should get a full statement, so should have 1-1. Primary is a way off, but i just want to see what the options are, so that we have a clearer idea of what to do, when we see how ds gets on at preschool. Our options seem to be a primary (at the end of our street) with a good rep for sn, but he will almost certainly need full 1-1 support. Or a very good special school which is 30-40 mins away (he would have to use school transport), where they work in groups of 2-3 pupils. Anyway we will have a look at both. Have you looked into the statementing process, First? If she could access 1-1 support, then she may be able to stay where she is.

Very frustrating, we are supposed to be going to nursery this morning, but my friend has just called to say she can't give us a lift. The SALT only does Thurs and we haven't made any of her sessions for months. I am so angry with myself for not being able to pass my driving test.

Trying to fill out the form for this study that ds is going to be in, and I am suddenly furious about the lack of correspondence between the geneticist and ds's paediatrician and me. Everything has been done via phonecalls from the specialist genetics nurse and me (usually with screaming children in the background or on walks up to school to pick up the girls - ie I am disracted!) The problem with this is that 1) I have to then pass on that information to the paed - who is impossible to get hold of and 2) I get myself into an absolute state that I have got something wrong. I have just written an e-mail to the genetics nurse to ask that everything be written down in future and a copy sent to me and the paed.

I am also fuming that the 'emergency' appointment that i have just been offered with regards to ds and epilim, is on Feb12th!! I really don't want to start him on epilim unless we are a bit more sure that he is having seizures.

And breathe......goodness I am an angry bunny today, I think I'd better hold off on the coffee, and go for a walk.

By the way I should have added, lovely to see you Rum, and so glad that your move is done, and you seem to be settling in so well. How has Orange been? Has there been any more seizure-like activity or do you think the epilim is working?

Hi Hazey - can see why you are frustrated. You are being left hanging a lot in various ways. Thats one of the reasons why I am keen on an SN nursery, things would be better co-ordinated to a huge extent without my doing everything (or as happens in reality not doing it but feeling stressed about the little tit bit of info I should have passed on here and there). A lot of thngs would happen on site.
As we are in Scotland there is no statementing process here. Im not sure if that makes thngs better or worse. I think this process with the Ed Psych is essentially the same thing and we can appeal etc. The basic legal struture is the same just the admin is done differntly. I am reassured that the Ed Psych struck me as both intelligent and experienced and the one special school we visited was clearly well resourced. It really was impressive in terms of facilities.

Firsttimer - you can only appeal to an independent tribunal if you have a CSP in place - although in practice CSPs can be as wooly and non specific about actual provision as any badly drafted statement. I think you are right though to be going for SN nursery as 1-1 support in mainstream is a tough challenge to get in Scotland.

whats CSP willow?

Co ordinated Support Plan - your dd really should have one if she needs an SN nursery - but you may be told that 'the nursery can do it all in house' . Now this may be true and it may well be a good nursery but a CSP would be an insurance policy if anything does go wrong in the future.

enquire.org.uk/what-is-additional-support-for-learning/questions/csps

This is fantastic thank you willow

Thanks for the info Firsttimer, much appreciated. We are having to think about my return to work (we can't live on one salary forever!) and I am worried about him in a nursery setting. Will have to speak to some and look at the options.

Hazey How frustrating about your appointment - that is not an emergency appointment! Do you have anyone within the system who can be a bit of an advocate for you? I basically drove everyone at our local hospital insane and now we have the support of a nurse from the attached child develpment centre who I speak to about all aspects of DS care. He calls/e-mails Great Ormond St for us (I can't get past the secretary - even tearful begging got me nowhere!), chases our appointments at both hospitals and is generally fab. Having someone inside the system has made such a difference. We were put in contact with him by our HV.

Its so difficult as a parent trying to push for your childs care - I feel like I walk a constant line between fighting for my son in a fair/approrpiate manner and being put in the 'neurotic/irrational' parent box. I am also so eternally grateful for the NHS, but then shocked at the atrocious cock ups that happen!

Evening me lovelies,

Hope you've all had a good weekend with no dramas. Our has been good apart from I've done far too much housework, but then again its quite nice to have it done and out the way for the week!

Hazey sorry to hear about appointment cock ups and lack of communication. I've been lucky so far in that everyone seems to copy the relevant people in. Apart from the once they forgot to send me a copy but everyone else got one, not good, and the fight over Cornish children getting about appointments at the nearest hospital which happens to be in Devon. Hope you rang back and got an earlier appointment or top of the list for an earlier cancellation at least.

On the schools/nursery front, I got a lot of support from the Early Years Inclusion Service at the council and from our Portage worker. Our portage worker co-ordinated IEPs with his mainstream preschool, SALT and physio really effectively and was lead professional in our TAC meetings. Smiles if you search on your local council website you should be able to find the phone number of the early years inclusion team and ring them to help you find a suitable nursery for your little one. I picked my preschool and they called in the Area Early Years SENCO to meet him so it can work that way round too if you've got an organised manager at the nursery you pick. However, I would add that I've been told recently by the teacher in charge at DS1's SN nursery that they are legally not allowed to say "he would be best at X school". Don't know if this is the case or whether its just because DS1 is quite hard to fit in a box.

In other news. I met up with Mavis/Rum at the end of the week. It was so lovely to finally meet and get to say hello to gorgeous Orange. We had a couple of cups of tea and chatted when we could around my DS2's constant: "Look a little bird/dog/man/cake/seagull/the sea, etc.". He then topped the morning off by falling face first into a muddy puddle, trying to open every car door in the car park and riding home with no trousers on. Hopefully we haven't put her off wanting to meet us again!..... Oh and I won a sack of potatoes at the bingo fundraiser for our village playgroup last night, I love living in the countryside!

This week DS2 has a kidney scan and we visit our first SS for DS1 at the end of the week (eek).

Managed to get a emergency appointmet with paed, who said after watching video, that he is pretty sure ds had a seizure. He is referring him back to a neurologist to have a closer look at his mri scan, and considering doing another one. He is concerned about the loss of tone down one side. He said because of the infrequency, he can understand why we are reluctant to start meds. He also gave us an action plan, of calling an ambulance if it happens again, so he can be observed. I have just packed a hospital bag for ds and I to keep in the wardrobe ready. This is all so hard sometimes.