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?

I am exactly the same with DLA form-I will be getting help doing it again I find it easier to focus with someone doing it with me and no one in my family is patient enough to do it!

hazeyjane poor you that sounds like a lot to take in. kwym about that thread, I like to think most people are nice though and don't think like that. I am finding other parents at school mostly nice about DD but I worry they think badly of her behaviour, the medical stress I am under with her makes me defensive and I keep my distance a bit I think. We went back for our first after school play at someone's house yesterday, a lovely mum whose older child has some SN invited us back and we had a nice chat I felt so much better and it was nice or DD to be asked to play. Hazeyjane I do hope the OT offered some strategies too as well as telling you problems? I'm sorry not to have any advice but I bet someone will.

Off to neurology now, really, really dreading it because last time I was there I took away a prescription to start dd on epilepsy meds. I then changed my mind when she got so ill with her genetic condition and thoight I cannot cope with more drugs to manage and she has only had one minor episode since so I went to the GP and said how worried I was and she wrote to the neurologist to explain my decision-he never wrote back so I am worried he will ask how the meds are going and then be annoyed I havent put her on them.

Congratualtions again used2.
Its lovely to think of orange rolling Mavis. I hope you have lots of fun together with it.
Hazey- I think AIBU is full of self selected idiots. They are there cos they want a schtunk - IMO most people arent like that. But I do understand your worries about going out with a child who is getting noticeably different. My heart does this terrible ache thing when I notice someone clocking our girl.

Ladies, you learn to stand up straight, develop a glare and look challenging. I do that for both kids and adults, where my DD is concerned. I cant tell you the amount of times we've been somewhere and a kid/adult has turned around to stare. I generally say to the person concerned, in a low voice so that DD can't hear me "Turn around and stop staring" people generally do. It's hurtful, but it's life. DD has now taken to meeting their gazes. I wouldn't argue with her!!

ha ha I think I have the same glare! I tend to stop what I'm doing and straighten up, I recently had a man look very nervous because his wife had been tutting and looking at dd and I did the look! Good plan quietly saying to stop staring too. I actually sometimes find I am mistaken when I am ready waiting to retort if someone comments then they surprise me by making a sympathetic comment or being friendly to DD.

Neurologist was really nice today, will be back later as want to ask others about what he said, I am more confused than ever but he was reassuring.

Right, just wondered what anyone makes of this? May do a thread but limited energy so may not!

Neurologist now says its fine to not give meds for the epilepsy. He was very relaxed about it, I am releived and totally sure its right at least for now to wait. I then said about DD's MRI scan which had come back normal and said what about her microcephaly (small head). Now a developmental paed once flagged it up and then her colleague the year after said it ould mean dd has a small brain but she then measured dd as being on the 2nd centile not 0.4th as was first said. The geneticist said no actually it IS 0.4th and measured mine and XPs heads and said we were normal range so dd has a small head and its a genetic marker.

Neurologist not only said he thinks dd is on 2nd not 0.4th centile but also that I am too so its more than likely not a worry. Whilst that was reassuring, I do get fed up with so many different opinions and am increasingly frustrated at having no answers at all to her learning difficulties.

came home and had my dad go on about how we need answers to find a way forward!

Right, just wondered what anyone makes of this? May do a thread but limited energy so may not!

Neurologist now says its fine to not give meds for the epilepsy. He was very relaxed about it, I am releived and totally sure its right at least for now to wait. I then said about DD's MRI scan which had come back normal and said what about her microcephaly (small head). Now a developmental paed once flagged it up and then her colleague the year after said it ould mean dd has a small brain but she then measured dd as being on the 2nd centile not 0.4th as was first said. The geneticist said no actually it IS 0.4th and measured mine and XPs heads and said we were normal range so dd has a small head and its a genetic marker.

Neurologist not only said he thinks dd is on 2nd not 0.4th centile but also that I am too so its more than likely not a worry. Whilst that was reassuring, I do get fed up with so many different opinions and am increasingly frustrated at having no answers at all to her learning difficulties.

came home and had my dad go on about how we need answers to find a way forward!

Gosh, used2bthin, that sounds very confusing, how annoying to have professionals contradicting each other like that - is there any way they could e-mail each other to clarify things?

Well eye test was a mixture of ok and nightmare, it all took so long (we were in there 2 hours) that by the time the consultant wanted to inspect the back of the eyes, ds was beside himself with tiredness, and screamed the bloody place down! The actual eyedrops were ok, and he looked like a very sleepy bushbaby afterward. She could see the ptosis in one eye (droopy eyelid0 and thought that it could cause problems in the future, one pupil is more dilated than the other, which she wants to keep and eye on, he is quite longsighted, which is ok for now, but if it doesn't improve he may need glases and he has an astigmatism in one eye, so all in all she wants to review him every 6 months. Aaaah, one appointment box ticked!

How is everyone getting on?

I thought of your post Sally, about standing up straight and developing a glare - you sound like a lion protecting her cubs - I like that. I was telling a friend about ds getting a walker, and I could see a look of pity cross her face, and I thought, 'no you've got it all wrong, it is amazing that he is going to have a walker, it will give him such enormous joy to mow down ducks and try wobble around the park,that i couldn't give a fuck what anyone thinks .' It was quite a lightbulb moment for me.

I just had such a lovely/funny experience on the bus back from hospital, where 2 old ladies saw me struggling to get pushchair and ds on the bus, they wrestled the pushchair off me, and carried it on the bus between them, then sat cooing and clucking over ds the whole journey back, it was so the opposite of the bus threads you see on AIBU, it was great.

Hazey. That has brightened my day. The old dears on the bus, and you having a lightbulb moment. It's very empowering, and gives you strength and faith. X

Glad you had a lightbulb moment Hazey, I had one recently when DS1 was screaming and wriggling his hands in excitement and a whole load of kids and Mums were staring at him. I just met their eyes and raised my eyebrows and thought "I don't give a buggering bugger what you think, he's having a lovely time and that's all that matters!".

BTW DS1 has unequal pupils. His right is much larger than his left but only in low light levels. In our old area they were keeping an eye (ha ha) on it every 6 months but when we moved it was diagnosed as mild congenital horner's syndrome and he was discharged.

Hi all, sorry the eye test was so difficult hazey, but good about the bus!

Lightbulb moments sound good I want one! Having a bad day as been up a lot with DD with her constipation and am tired and weepy with bad acid reflux and other pregnancy niggles. Annoyed in advance with DH in case he thinks I should be doing stuff around the house since I am home with DD at school-bit unfair to him as he won;t say anything anyway but he did say "you're not ill" when I refused to give him sympathy for his cold and hangover yesterday because I'm heavily pregnant and tired!

I am feeling abit desperate today about not having ANY answers and am getting nervous about baby no 2 a little for the first time. If its not anything genetic or metabolic causing DD's learning difficulties/SLI/ dev. delay or whatever term they are choosing to use at the time then maybe it was something at birth or that I did in pregnancy. And our next dev. assessment isn't till end June three weeks after the baby is due. Even then I bet we don't get anywhere with diagnosis.

Hi everyone. Its frustrating when people contradict each other - or when they string together resource issues and clinical ones as tho they were one and the same thing. I have no answers for you usedto apart from calling both offices stating what the other has said and asking that they explain it better to you.

Hazey - your moment sounds brill - in fact both of them do.

We have been away for the weekend - just us two, Thurs to Sunday - and both feel so much better. It is getting easier somehow...maybe just in my head. But nevertheless I feel a bit better - kept that feeling right through our girl screaming her head off in John Lewis - so I must be getting better an this

Used2, I can't think what to say, ugh I was not good at pregnancy, so you have all my sympathy - but to have the added worries of everything you have going on, all I can do is offer a hug (I know its not done on Mumsnet, but tbh I am a completely unhuggy person in real life, so I quite like hugging via computer!)

FirstTimer, you sound like you do such an amazing job with your dd, I hope things are going ok - I saw your thread about interview dresses, but as I have absolutely no sense of style I thought I'd best not contribute!

We have just got an appointment through for a kidney scan and typically it is on the same day as a physio appointment and portage, you wait for months for an appointment and then they all come at once!

I am trying to get ds to eat some different textures - blimey it's hard - he pretty much has mashed food, puree and biscuits/crackers. I worry that he is developing an aversion to other textures and types of food, but he really struggles to handle them and they just fall out of his mouth. I'm not sure who is the best person is to talk to about this - the HV was rubbish.

Hope everyone is getting on on ok.

Missmavis, I have just read your latest blog update, it bought tears to my eyes - truly something to celebrate, well done little orange.

(Oh and I'm sorry to hear you are still feeling so unwell - I have just been reading a thread about the rise of whooping cough, and how it often now presents without the whoop - you don't think you could have something like that do you?)

Hi all, thank you and thank you for the hug hazey. I actually have perked up since a nap and a chat to the GP who has prescribed various remedies for my annoying ailments. I was awful with the last pregnancy, this one has been better physically but I am more aware of the things that can go wrong so perhaps not psychologically.

Funnily enough earlier I got a text reminding me of my genetics appointment in two weeks. then a couple of hours later an appointment came through the door so looks like our geneticist has kept her offer of an appointment before the baby comes! I am not sure it will give me any answers but will be good to talk it all through before the baby is actually here and I can ask about the discrepancies about head size etc.

Hazeyjane do you have an OT? DD also used to (and still does to a lesser extent)struggle with textures of food and will gag very easily, we now have mouth excercises to do before eating to decrease sensitivity ad she has an electric toothbrush for the same reason. Its hard to tell if it has worked or just gradually improved but its a bit better. Good luck! Otherwise I would talk to your SALT if you have one?

Hazey, my DS1 also really struggled with textures due to his open mouthed posture. We had an appointment at a feeding clinic run by the speech and language team. We got lots of useful advice, he's much better now but still very messy and doesn't like chewy textures and will spit stuff put rather than swallow it.

The referral was via his paediatrician but in our old area you could also get referred via a SALT drop in session that they held at various children's centres in the area.

DS1 had his assessment with the Ed Psych today who said she feels he's a priority for a place at the child development centre. She's on the committee who decides who gets a place so I'm feeling positive about next year .

hanbee thats great, don;t think we have child deveopment centres here is it early intervention type stuff?

I responded to another thread yesterday and the condition that was talked about was one I hadnt heard of so I looked it up-am now convinced it describes dd, this has happened before and I know I must be careful not to obsess over it but I have never read anything that so accurately described her. I am going to ring the geneticist to see if she has tested her for it because at least I will know then.

Hi used2, the CDC is a specialist centre for both assessment and intensive development teaching. It's run by a specialist teacher and has 3 staff and 6 children per session. It has attached SALT, physio, OT etc. They do all statement work and help you find a school placement.

It's 3 mornings a week for the year before school and he can continue to attend his MS preschool as well. I really hope he gets a place.

I think similar places can be called Area Resource Bases (ARB).

oh that sounds brilliant, really really good. Fingers crossed for you!

used2, ds does have an OT, but i didn't realise they dealt with stuff like that, she seems to mainly want to watch the way ds plays with toys (which he doesn't do because he is too busy screaming at appointments!!). I started a thread asking for advice, because ds had quite a scary choking/swallowing episode the other night, which went on for longer than usual. A lovely poster gave me the number of a feeding salt at gosh. We seem to be getting nowhere with help here, so I am going to contact her.

The child development centre sounds like the sort of thing ds goes to, but it doesn't work very well for him at the moment.

Feeling very gloomy at the moment, my eldest dd is very miserable, and it is hard seeing her so unhappy. My dd2 (who has always been, um, quirky!) is being very difficult and having huge screaming meltdowns and I am feeling like I just want to move to an island with the people I love and not bother with the rest of the world!

I saw your thread and thought maybe I misunderstood what you meant-our OT sess DD for sensory processing issues so for her its about gagging due to over sensitivity so a different thing I think. DD has severe reflux as a baby (vomited blood twice badly)and stopped eating for a bit after that, they thoought she may have had an ulcer due to her steroids. Anyway I always wonder if its since then she got funny about textures with food.

Poor you hope you feel better soon, this weather doesn't help. I know that feeling, we went out after school yesterday which was lovely but we are going again tomorrow and it is just so much easier to be at home with DD atm, away from comparisons and having to worry about behaviour!

I rang our geneticist today, she was going to call back when out of her meeting but hasnt yet-its often days and I really am itching to ask about the condition I found and whether dd has been tested-thats not my reason for calling but I want to do that too wish she'd call soon!

I hope she calls back soon waiting is horrible. I saw that thread too and googled WDS, it is strange when you read something that is so similar to your child. I am constantly surprised by just how many different conditions exist, and then I think about the fact that these are just the ones we know about. There are a couple that I have suspicions about wrt ds, I mentioned them to the geneticist and she said they would be covered by ds's testing.

Thanks, it describes everything she has had, it was so so her. Bet its been tested for already but at least then I will know. I wonder if she will call at all today now. The appointment is only two weeks away but I think if I ask her now and she needs to check anything to find out then at least by the appointment she may know. Wish the neuro disability paed appointment was before the baby is due too, its a couple of weeks after my due date and I think may be hard to deal with if anything comes of it but then again it will probably change nothing!

Btw, the GOSH SALT sounds a good plan, will you ask to be referred through NHS or do you have to go private?

Geneticist did call back. She thinks the conditon I asked her about is unlikely because it probably would have caused more fits and have shown up on the MRI but said she will find out more about it. She also mentioned the DDD study but said she doesn't think I should get my hopes up that if I do it we'll find a diagnosis, not yet anyway. She said around half the children she sees don't get a diagnosis which was a bit depressing to hear but then I have to remember how terrifying some of the things we have ruled out were and be grateful(she didn't say that thats me!)

Genetics isn't always cut and dried. IME they are still looking for our family's Treacher Collins Gene. It's not in any of the three other places where they have uncovered it. So they feel that we may have a new mutation. We will probably never find out for definite.

yes she said the same sort of thing. dd's other condition is genetic and was so straight forward in retrospect- it took two weeks (of hell in hospital so not fun but still) to diagnose then there is a definate pattern of inheritance, and in how it affects children with it. All so straight forward really though it didnt feel it at the time, this time is so unclear I worry we will never know.

I was a bit ringing with a condition I had thought of and said as much but she was lovely and said it really does happen that parents come up with the diagnosis and are right sometimes.