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?

No I meant ASD, I thought AS was a subsection of ASD but after hovering about the threads in the special needs section I had read people saying their children were diagnosed with both so then that's where I got confused , so if DS is dx with Aspergers then he has ASD in the form of Aspergers, is that right? And he could possibly have Dyspraxia also?

Sorry I'm really new to all of this and no doctor has given me the decency to sit down and explain anything with me yet...

firsttimer I'm so glad they were thorough. Sorry you didn't get more answers.

I share your sentiments exactly about the whole thing. I am bracing myself for the possibility that we may never know what is going on with DS and just have to take it day by day pretty much forever. We have no idea if he will ever walk or talk even so we just need to continue to live our lives and help him the best we can.

It is exhausting dealing with all this and going through the diagnosis process. Wondering. Waiting.

What type of extra support do you think you will be able to get?

We are taking drastic action, selling our house, relocating and moving in with family so we just have more pairs of hands for helping with all of DS's constant physio-through-play needs and ensuring DD also gets her needs met. I'm not going back to my old job. I have closed down my limited company since I can't really work at the moment with all DS's appointments, therapy and his needs at home. So we can't afford our house anymore which is a bit of a bummer. We exchanged contracts yesterday and move into my mum's house at the end of the month.

It is very hard not to worry about the possibility of a degenerative condition. That's also my worst fear for DS.

Hi crazycat that sounds really tough. We realised we needed to spend more on childcare as I find it too tiring to look after her full time and we also needed a bit of time to clock off. So she now has a full time nanny (luckily she came reasonably cheap) and is starting nursery soon. Altho I am now thinking of keeping the nursery part time and keeping nanny for a bit longer. I am worried full time nursery will be too much, the nanny has been great with her. I'm self employed so I manage to fit in appts aroudn my work. Luckily I got a good contract so we are ok for the next year.

I have also gotten in touch with some organisations that support parents. We will meet next week and see how they can help us. They will help us with the Disability Support Allowance forms and see if we can get any financial assistance. I'd like to meet other parents I feel a bit ostracised from the mummies I met during my mat leave. They are kind etc but its not the same and I feel we no longer make the best playdate sadly. Some are better than others. My H is starting a hanen course and I think meeting other parents in similar situations will help us somehow get to grips with what is happening to us.

I had a look back over the thread crazycat, looks like you have more appts than we do. I do find sharing the load makes it easier. I am glad H is doing the hanen and while I want to be at her day time appts at the moment. If her progress continues as it has been I can imagine her doing some of her physio and SALT at nursery. Hope you find something that works for you. I find this can be very all consuming and not in a good way.

I know many parents on here have greater difficulties to contend with but please bear with me (we where there about 6 months ago). Now I see walking (!) is not that far off, and her interest in communicating makes me feel that while she may not talk for a long while yet, I think she will eventually. So I am starting to content myself with that.
As for the possible metabolic disorder (or anything like that) I am deciding not to let it spoil this bit of our lives together.

Hello, just checking in.

Despite not having any further answers, FirstTimer, it sounds as though you have got to a good place at the moment.It also sounds as though your dd is doing really well.

Ds is still waiting on an mri, and ecg and eeg and a videofluroscopy. But at the moment i seem to be able to compartmentalise the medical /diagnosis side, and tuck that away somewhere to worry about another day! Ds has started at special needs nursery 2 morning a week. We go together, and it is hard work, they have speech therapists and physios come in and music therapy every monday. At the moment he is still very clingy to me, and finds some of it overwhelming, but I know it will be so good for him. Personally I find it exhausting, but it feels good to be doing something positive.

We are still waiting for a standing frame, which will help at home, because ds loves to stand against things to play, but I have to stand behind him to hold him in a good position (other wise his legs twist and his feet clench up), it is good for strengthening my thighs, but knackering for my back! He still isn't moving, so gets carried a lot (and he is nearly 12 kg!) but is trying to twist as if to bumshuffle, unfortunately this usually results in him falling on his face!

We are all learning Makaton (our dds put me to shame, learning it so quickly), and I am convinced that ds tried to do the sign for 'more' the other day. At the moment his speech consists of squeals and shrieks, but they are starting to get slightly different intonation to them, and if we keep using the signs, hopefully he will be able to communicate what he wants that bit easier.

I hope everyone else is getting on ok.

Hi hazey Ive been hoping to hear from you. Was wondering how you are. Sounds like its still exhausting. I avoid carrying my daughter downstairs as much as possible now, my knees are so painful. Its these things that are so wearing imo.

Sounds like you are being really proactive and its doing you good just now. Good for you. Hopefully you can schedule a bit of rest for yourself in there somewhere.

Hi there. We are still plodding along. Genetics have said that there is nothing else that they can test for and they will review in 12 months and Metabolics don't seem to be interested because ds is progressing well.

Firsttimer7259 my ds also shows odd values on a metabolic screen. Not much is known about what he has but I share your sentiments for the future exactly. Ds is certainly very quirky.

I have put ds's name down for an early development program at a special needs school for next year (The school year starts in January here). It'll be 2 days a week with lovely teachers and therapists. I'm sure that he will love it and that he will charm everybody there as he always does.

I have also found a private speech therapist for him as the one we see through the community services does not really connect with him and does not see him frequently enough. I was quite shocked at how much it is going to cost but it will be worth it.

Ds is picking up Makaton well. In a moment of silliness I taught him the signs for 'biscuit' and 'cake' He now asks for cake at every opportunity. He also has made up his own signs and always asks for hugs from almost every man he sees! (Doctor, estate agent, swimming teacher) He does give lovely hugs though, sometimes accompanied by a shoulder nibble!

That is great news about your DS doing so well with learning Makaton Stillin, I did this with DS when he was younger as he was a slow talker and it worked quite well for us.

Firsttimer will you still be paying the nanny whilst your DC is in nursery? If so could you instead ask the nanny to take her to a playgroup or other mother-toddler group to cut costs a bit?

We had parents night tonight and the teacher told me that both herself and DS's support worker had a meeting with the SALT and suggested another assessment of DC and told me tonight that a referral from SALT would be the best way of getting him assessed for ASD. I don't know how well that will go though as the SALT seems to think DS is fine, she even commented on his eye contact being really good despite him having practically no eye contact at all , even his teacher tonight said his extreme lack of eye contact was definitely a cause for concern.

Hi all,not been on this thread for a while but have just had a skim read and it is encouraging to hear how you are all managing. I am trying to be like you firsttimer and think of the positive now and worry later about the rest. DD had her MRI yesterday so I am hoping sort of that that is it for a while.

I say sort of because the geneticist has said that if the MRI result is normal ie no brain abnormality then she will test for metabolic conditions. So am similarly putting the fear of how awful it could be to the back of my mind and just waiting to hear what the results are.

DD has a bit of chromo four missing but it seems to be a red herring as it turns out I do too so it could well be insignificant the geneticist said it is frustrating but not uncommon.

just thought I'd bump the thread, and ask how every one is getting on?

Hi Hazey, we're still no further on unfortunately. The SALT said she'd find out about getting referee to both the paediatrician and the autistic diagnostic team but nothing has materialised. The health visitor said she'd get in touch with information about any local support groups but that was weeks ago and still nothing. And the EP still hasn't done her classroom observation on DS and I've no idea when that is happening now.

But a positive thing is since I had a meeting with the HT about DS being sent home all the time, I said i had wanted to find out about having him transferred to a school with an autistic spectrum base as they clearly couldn't cope with him. She said they were coping with him however, and he's not been sent home since.

Hi hazey and ihatecbeebies. We are waiting for a series of bloodtests around peroxisomal disorders. We had a blood test that indicated she might have a form of this and it tallies with her delays. Will take the usual endless amount of time. These disorders are very rare but fatal. I cant even think about how I feel.

hello

ihatecbeebies, how absolutely frustrating that you haven't moved any further forward, what is the next step now?

firsttimer, gosh, that is very worrying, do you have any idea of how long you will have to wait for the results? Is the testing for genetic causes or is it something to do with metabolism?When they were testing ds for spinal muscular atrophy (degenerative, with children not reaching adulthood) the results were through in about 5 weeks, despite them saying it could be longer, they knew what an agonising wait it would be. How is your dd getting on?

We have an appointment with a neurologist in oxford next week, which should be interesting, if odd, because it is almost like going back to the beginning with trying to think of all the questions we have about ds.

Then 2 weeks after that ds has an MRI scan, which I can't bear to think about (hate the thought of ds having general anaesthetic).

Ds has made quite a bit of progress, trying to stand (he also has a standing frame to exercise his core muscles), blowing raspberries and he signed 'more' (we are all learning makaton) he is showing a lot more frustration, which is a good thing, because for a long while he simply showed no interest in anything much. But it is exhausting, I still carry him a lot, he is up for 3 hours a night, and he has had a few more episodes of choking in his sleep. He also seems to get ill all the time, he's had 4 colds in the last month, and he gets them badly, with it affecting his swallow, not sleeping, being very grizzly and unhappy. Dh and I are knackered!

Hi All
Been a long time since i checked this website. I always go on the swan uk facebook group. They really are fab there and do urge you all to go there. The support is amazing.
You all sound like you are having a hard time still as are we. Still no further to a diagnosis and still stuck at baby stage. Heart breaking.

Sending you good vibes and wishes for next week hazey. If it helps at all, we had an MRI done in the summer. I was dreading it, but it wasnt too bad. She had a great day - it was a childrens hospital and they are so good with weeuns so she loved all the attention and had a blast. Also no hospital gown. so she didnt look sick and the whole thing was a lot less traumatic than I feared. My H came with, if I had been alone it would have been a lot tougher. I hope you have a good experience of it too - in as far as these things can be good.
Hi hayley havent seen you for an age. Will try the swan website soon I think. I remember your boy was so cute in the pics you posted.

Definatly do :) Theres about 100 members now who are all there to support each other. We have just started putting together our own youtube videos for the swanuk youtube sight. Heres the one i did for my son. Feel free to take a look

There is also a couple of people going onto itv news to talk about how hard it is to not have a diagnosis. All really positive stuff.

Thats one powerful video hayley. Really well edited too. Caught so much of how I feel.

I urge everyone on this thread to have a look at the youtube link hayley posted above

Some good news (for a change): the tests are back (3 weeks early!!!) and they are NORMAL
I feel indescribably wonderful today.

Firsttimer I read your post a few days ago about waiting for the blood tests and tbh didn't know what to say, I just felt so awful thinking about what you were going through, but reading your post today had me smiling, that is great news and you must be over the moon!! :)

Hazeyjane Yes really frustrating, I'm going to go back to the GP and ask to be referred to the paediatrician for DS's suspected developmental dyspraxia and then talk to the paed about his autism face to face if I get an appointment rather than having to go through SALT and EP and school for the autism and getting nowhere IYSWIM.

Hayley I've been looking for the Swan facebook group but can't find it, could you post a link for it? Thanks.

www.facebook.com/groups/205554229483224/

Try that?

Thanks I got it