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?

Is it something like this, Hayley. Ds is supposed to have one delivered next week, his physio thought it would be good because ds is getting frustrated with sitting, but not moving. He likes us to stand him up, but is wobbly, and it is killing my back. He has also been fitted for some Piedro boots too, to wear when in the support. I'm sorry to hear your little boy doesn't like it. Have you talked to physio about ways to try and encourage him to enjoy it more?

We are seeing paed next week, so hopefully things may get moving a little more on our referrals and tests.

Sorry you ar having such a long and horrible wait, any idea of when results may come back?

No that looks alot nicer than ours! ours is more like this

www.google.co.uk/imgres?q=leckey+standing+frame&um=1&hl=en&sa=N&rlz=1C1SKPL_enGB446GB446&biw=1024&bih=677&tbm=isch&tbnid=Br2yyt1ImrzygM:&imgrefurl=ellieedayoung.blogspot.com/2010/09/ellies-new-standing-frame-leckey.html&docid=EwwLaArZGnMJzM&w=1128&h=1600&ei=PFdZTtC7AcOv8QPx_fzJDA&zoom=1&iact=rc&dur=157&page=1&tbnh=128&tbnw=90&start=0&ndsp=26&ved=1t:429,r:14,s:0&tx=75&ty=27

(not sure if that works i dnt no how to post links!)

We are hopefully get some type of boots for him at some point to as he holds his feet funny. DS problem is he doesnt want to stand. He doesn't bare any weight & being put in this frame takes alot of effort for him. Not spoke to physio yet. shes out in a few weeks to see how we are doing.
We get out results on the 13th sept! So nervous. Got a big craniofacial meeting to discuss his development & the results then we all decide about the op.
Hope you get somewhere when you see paed.

13th September, soon, but not soon enough! I know just how long it feels waiting for these things.

Your stand does look a lot more complicated than the one we're getting. It must be very hard having to make him do something that he really doesn't like. how is he with sitting? I think with ds they want to find positions that he is happy to play in, so he was happy sitting, but now gets a bit frustrated, he hates being on his back and tummy, he can't roll or move, but as soon as you stand him on his feet he just grins from ear to ear - he just can't hold himself up, and his feet point outwards, roll in and are clenched. When the physio measured his feet for boots she said they were the smallest size but the widest fitting, because his feet are so fat, they still look like newborn feet!

Ds feet sound exactly the same - roll in, point outwards & clenched. Do you know when your getting your boots?
DS is happy sitting for about 10-20 mins then he wants to lay back down. Hes happiest laying on his back playing. HATES his tummy alot! Screams the house down as soon as hes put there. I know everyone tells me he will get used to the tot stander eventually but the way he reacts i just don't think he will. Hoping physio might offer us a different one for him with more support.

We might be able to pick them up on Thurs when we see his paed, or they may bring them over when they deliver the monkey stander. Ds hates being on his tummy too, we have tried laying him on a ramp so that he can play, but his physio said he needs to be on his tummy trying to push up on his arms, as his arms (and trunk) are where he really lacks strength. The best way I have found is to either lie him on my chest, whilst i am propped up on pillows, and to lie him on the bed, whilst I kneel the other side making funny faces, but he will still only manage a couple of minutes at most.

Hello, saw the paed yesterday. He seemed to think that the funny turn, wasn't a fit (although he has referred for an eeg, just in case), but could have been that ds was choking on pooled saliva. He has prescribed patches to help dry up the drool. I was relieved at first that it didn't seem to be a fit, and then when he started talking about ds needing constant supervision incase of it happening again, and what could have happened if we hadn't heard him, I was terrified.

He is going to push for the mri to be bought forward, and also ordered an ecg, because he feels as though ds's heart needs to be checked. Oh and he said he definitely needs a videofluroscopy. I predict lots of hospital trips in the coming months!

How is everybody doing?

Hi everyone just checking in
Hayley i hope its getting easier to use the tot stander.

hazey - sorry you seem to be facing endless tests.
catlady how was the MRI. I really hope you had an alright day of it.

We have just had another therapy session, all a bit vaguely disappointing ho hum...

In the early days I had a real sense of disappointment after Physio and OT - it was a bit of a case of is this it??

I've learnt over the months to ask a lot more questions and I've read a lot too so now I actually know what they're talking about iykwim?!

Hi Everyone!

hayley I am glad to hear that the paed does not think that the funny turn was a fit. Without I diagnosis I find that I am questioning everything that my ds does because I just do not know if he is predisposed to having seizures or other things. I always go to specialists with long lists of questions and my observations of ds just to check that there isn't something else that I need to be worrying about.

My ds absolutely hated tummy time and once he could roll I spent most of the time stopping him from going back onto his back! I found this really useful wingbo although I wish that I had got it earlier.

Once ds had grown out of the wingbo I found that tummy time was easier if I sat on the floor with my legs in a V shape and placed ds with his knees in between my legs and his tummy over one of my legs with an interesting toy on the other side of my leg. The idea is that you get the child to prop with both arms, whilst still supporting the tummy. If there is a toy with buttons you can try and encourage him to prop with one hand and press a button with the another. Occasionally I also used to hold his knees together to get him used to being in a crawling position.

How often does your ds get physio? When we were not getting enough (and could not afford to pay for any more) I found this book to be really useful. My ds does not have cerebral palsy but I found that this book is a really interesting read as it goes through all of the stages that your child needs to do before walking.

That's one of the books I've found helpful too. I wish I'd seen a wingbo before Stillinmypjs, I think DS would be too big now. We're getting a hammock installed soon - basically it hangs from the ceiling almost to the floor and we put DS into it like a sling on his tummy and it takes the weight from his chest through to his feet. His arms are free to play - we tried it at a private OT and he tolerated (almost enjoyed) lying on his tummy playing with the toys in front of him and pushing right up through his arms from his hands (a first). He also tried to use his arms to pull himself forward to reach a toy - I was amazed!

Hi everyone

We're on holiday at the moment in Cornwall. Having a brilliant time and it's so good to get away from all the appointments, daily life etc. But I find myself feeling really sad tonight as, I don't know, I sort of thought 2 weeks by the sea would be some sort of magic bullet for DS and all the new sights, sounds and smells would somehow kick start his development. But of course it hasn't . He is as quiet and withdrawn as ever and just lies there unless someone is interacting with him.

He turns 6 months on Thursday and I am dreading it. The older he gets, the more I and others expect him to be doing, and the more obvious it becomes that he's just not doing anything. At all. .

He didn't have his MRI last week. We took him in at 8am (after starving him since 4am!) and when the anaesthetist checked him he said his cough was too bad. He's had the first cold of his life these last two weeks and it was just enough for them to refuse to anaesthetise. So we're waiting for another appointment...

hazey, what is a videofluroscopy? Is it a heart scan? Good that his MRI is going to be brought forward. The waiting and wondering is so difficult.

StillinmyPJs, thanks for the link to that book. I'm going to get it I think. I need to feel like I am 'doing something' to help DS every minute of the day. Wingbo looks good too! I like the sound of your hammock 1980. DS would really benefit from something like that I think.

Sorry to hear that your DS didn't get his MRI cclady. My Dd was meant to have an investigative op under general at five months and it was cancelled last minute due to her levels being out (condition) then again cancelled at 9 months due to a cold, it was so upsetting and I remember the build up well then the sense if anti climax and frustration at having to go through it again. Did they say they can get you in again soon? I remember when it was cancelled due to a cold I was actually disagreeing with the aneasthetist and saying but she's just teething.He said that stuff round her nose looks green to me!

Hi everyone,

Haven't been on for a while but thought I'd check in! Sorry to hear about the cancelled MRI crazycatlady. frustrating. We're waiting for our paediatrics appointment at which we'll find out what tests DS1 will be referred for. Probably an MRI and genetics so hard to hear about all your waits.

In the meantime though he's starting preschool (so far loves it!), started scribbling/drawing and signing coming on great guns, he's up to around 10 signs now, from about 2 in July, sometimes even joining two together! OK it's always "more" and "biscuit" but it's progress ,right?

Just to keep me on my toes DS2 started walking, he's 10 months. DS1 didn't walk until 23 months so it's like bring a first time parent all over again.

That sounds lovely hanbee. I really cant wait for ou girl to start communicating more with signs or words. At the moment her only word is a plaintive 'mamamama' when she's upset.

We have so much on at the moment in terms of support for her that I am wondering how to fit it all in. On top of physio, SaLT, pead and visiting teaching service we are being offered a Hanen course. I really want to go but its a big time commitment and I am rather time poor. Will investigate if we could squeeze it into husbands schedule instead. Have you ever declined any extra support because you dont know how to fit it in to everything else that needs doing?

Hi all,

My DS is 11mths old and is not holding his head up yet, is centrally hypotonic and feeds through a tube over 18hrs a day. We have been in hospital for most of his life and had all the tests going with still no diagnosis. We have everyone involved, SALT, OT, Physio, Geneticist, Neurology was involved but not anymore, paeds etc etc. Really just don't know when anything is going to happen with him as because he took so long to get a feeding regime in place he is only 16lbs now and nearly a year old.

Am currently trying to find someone to come in and help in the mornings as I'm up all night with him and I have another DD just started school.....

Mrssouth, that sounds so hard. Are you getting help from homestart? How about portage? Is your ds fed by tube?

My ds is 14 months, and has gross hypotonia and developmental delays, he has had some genetics tests, which came back clear, and we are waiting for an mri, an eeg, an ecg, and a videofluroscopy. He started sitting at a year, but doesn't move, and I end up spending a lot of the day carrying him. he also is appalling at sleeping, dh and I take it in turns to get up with him as he is up 3-4 hours a night. We have 2 dds (4 and 5) and as you say trying to deal with them and the school run is hard, when you are so tired and having to care for ds too.

Do you have any inklings about what could be at the root of your ds's problems? To have spent so much time in hospital, must have been very difficult with your dd as well.

Hope everyone else is getting on ok.

Thought I would revive this a little. Havent seen anyone around for a bit. I hope you are all doing ok. No real news on our end. Next pead on 4th Oct
I was wondering if anyone had any good source of information, or a good book to read for this current waiting stage. I stop off at the bookshop occasionally wanting to buy a book to help with what we are going through but then dont know what. She has GDD. Shes 19 months now, and about 6 months behind, her recptive langugae seems to me a bit further behind then that. We have pead, physio, SaLT VST and H will be doing a hanen course shortly.
I have a solid educational background and wouldnt be put off reading material aimed at practitioners. But at present I dont know what I need to read about. Or maybe I could read a book about the expereince of lving with SN.

I dont know, I am sometimes so lost with this. Has anyone read anything they would recommend?

hanbee it sounds like your DS has his priorities right with his signing!

mrssouth you must be exhausted. I'm only just now starting to learn about how trunk control is central to so much, including the ability to open your mouth, chew etc... DS is centrally hypotonic too, but to a lesser extent. He's six months so I am trying to introduce him to food and it is not proving that easy. He is willing and keen, but not particularly able.

firsttimer if you come across such a book let me know! I think some of the books aimed at parents with children who have cerebral palsy are quite useful as they are full of ideas and exercises to help children with their development, but I am yet to come across anything more general aimed at parents of children with no diagnosis. There are some interesting blogs out there worth reading, again a lot are CP or children who have a genetic/chromosomal diagnosis... perhaps we should all write a book together about our experiences?

DS had his assessment by the NHS physio at St Thomas's this week. He is being referred for community physio twice weekly and they will also get him a supportive chair as they are worried about curvature of the spine given his poor trunk control. This is good, but also a very visible acknowledgement of DS's issues. I'm thankful for the support of course, but finding it all quite hard at the moment.

Hi all, I am Lauren the project coordinator for SWAN UK which is a support project for families of children with undiagnosed genetic conditions / going through the process of diagnosis. We have a growing community of families supporting each other and swapping information about a range of subjects from equipment to tacking part in genetic research studies. If you want to know more about us please check out or project blog www.swanuk.wordpress.com or come and find us on facebook www.facebook.com/SWANchildrenUK. You can also contact me directly on [email protected] or 0207 704 3141. Take care and I hope to hear from your soon, Lauren

Hi, I've not read the whole thread sorry but I've just started trying to get a diagnosis for DS and feel really overwhelmed and scared. I've no family so I've been hovering about the SN threads for a bit of support.

He has very strong traits of ASD, Aspergers and Dyspraxia. I spoke with the SENCO at the school today who has managed to get me a referal with the educational psychologist and I'll be able to meet with her at the end of the month which is good as before today it wasn't looking like I'd be able to see her and the school would be the ones dealing with everything, even the GP refused to give me a referal when I asked.

Hi ihatecbeebies sorry its gone quiet on here. How old is your child? I hope you are doing ok, its a long slow process with v young ones (my girl is 20months now) maybe a bit faster once they are older.
crazycat did you have the MRI yet? Havent heard from you for a while.

We may be getting something like a diagnosis soon. Some of the blood tests have come back with something abnormal, but not abnormal in teh normal way so the experts are confused. Her brain scan was similarly inconclusive a few months ago.
We have an appointment with a specialist on Monday. I am nervous and tearful but somewhere I realise that this is the first thing that makes sense. My DDs delays are global and when I go through the lists of signs and symptoms for things like dyspraxia, autism and processing disorders she doesnt really fit, her development (such as it is) is very typical in its progression, its just late. The diagnosis now is leaning towards a metabolic disorder - something rare within that group but for me it makes sense to think that a build up of particular chemicals in her brain could be whats slowing down her development.

I am glad we dont have to wait long to see someone. I need to understand what this means soon.

Hi ihatecbeebies. Sorry it's been hard for you to get a referral. Sometimes it can feel like a battle every step of the way with trying to get the right things to happen for our children. Welcome to the thread.

firsttimer DS is booked in for his MRI on Thursday. We saw the paediatrician again last week who said his CGH array had come back normal and the other blood tests didn't show anything other than a thyroid stimulant that was slightly out of balance. He said this could be DS's thyroid taking a bit longer to mature and nothing out of the ordinary. He seemed pleased with DS's progress but warned us to expect a lot more testing and investigation. He is concerned with the lack of tone in his trunk and slow development. He is 7 months and not as interactive as he should be, can only just sit supported in his high chair and no signs of rolling over. Tummy time excellent however and he is very chatty...

He is having his vision tested in November as the paed suspects a problem there. Also neurologist assessment once the MRI is done. I suspect we are moving along a very similar path firsttimer. DS's development pattern is the same. I know what you mean about not really 'fitting' the signs for a number of conditions...

I hope you get some answers tomorrow. I know that nervous feeling all too well. Will be thinking of you tomorrow. Please let us know how you get on

What news from hanbee, 1980, hazey, used2be, mrssouth, hayley? xx

Thanks for the welcome :) DS is 4, he's just started school too. I am worried that it will take so long while he is young as the best window of opportuinity for the most effective intervention is when they are young, I keep kicking myself for not realising sooner that there was something more to it than him being a late bloomer. Do any of you know if it is possible to have all three, ASD, AS and Dyspraxia? DS seems to fit into all three, but then some of the traits overlap anyway.

Hi Crazycat, nice to hear from you. Sorry you are still waiting on the MRI.

Hi ihatecbeebies looks like some of the delay in getting a diagnosis is not your fault. Besides 4 is still early.

We had our appt today, 2 hrs, with neurologist and metabolic specialist. They were v thorough but in the end we dont know much more than we did before. I very much hope that she does not have the more pernicious of these rare disorders. It would be heartbreaking to see her slowly poisoned by her own body, especially as with some there is nothing that can be done. I keep repeating to myself that its a 1 in a million probability.

Otherwise I feel like I have had something of a breakthrough for myself. Two things have finally sunk in. The first is that in the majority of cases there is no cause found and that the most important thing is to continue to observe DD and as long as she is making progress we are in the good zone. (If progress stops or reverses then its a different matter) but at present she is clearly progressing and although she has what they called a 'significant delay' she's progressing and thats the most important thing.
The second thing is that the experts explained that normal is a really sliding scale and somewhere in that explanation I realised that its not really about her being normal for me. I want her to be pain-free, I dont want to lose her to regression or due to seizures, I want her to be able to have an independent life and be able to access the things that make you happy - friends and a job. She doesnt need to ace school work or go to uni. I want her to walk and talk; to be able to make friends and to function in the world without too much frustration. And thats all. Much of that you can have without being normal.

So I am now going to stop looking at development scales and working out where she is in relation to her peers. The specialists are busy working out the possible causes and I am going to let them get on with it. The remedial help she's getting is fine so I just need to get her to her various appointments. We are doing the best we can and I am going to look into getting more supoprt for us becasue we are worn out and then I am going to relax and enjoy my lovely happy smiley little girl.