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?

Sorry also wanted to quickly say - blimey, Orange looks so much like my ds in the rock pool photo on your blog!!

Ok, last bit, I promise

Physio recommended ds stay in a rear facing seat for as long as possible, ours was £260, which we got a family fund grant for.

ok, back to prodding ds to keep him awake and waiting for physio to arrive!

Hazey, hope the EEG went as well as it could.

Mavis, my DS1 was referred for OT by his physio today both for advice/poss equipment to help him sit rather than slouch and for sensory therapy. I'll let you know how long it takes before we get an appointment!

Well, let me know Mavis and I'll give you all the phone numbers I have.

Hello

Well the eeg was a surreal experience. Ds was sedated when we got in, with melatonin, and he started falling asleep before the wires were put on, then slept on the bed whilst i sat next to him. I had one of those moments when you step outside yourself and see yourself as though you are watching a film, and it seemed so bizarre to be sat in this tiny room, with (nearly)2 year old ds lying on a bed with 24 wires stuck to his head, being filmed by several cameras, whilst i sat talking about Pierogi and Polish sweets with the eeg technician. Anyway, it he slept for about an hour, and she woke him and flashed lights in his eyes, and then it was over. We find out the results in the next couple of weeks. Tbh I don't think it will show anything, she said if he has had an episode recently then it would show up, but he hasn't had an episode for about 3 weeks. He spent the afternoon sleeping off the effects of the melatonin.

We had a good physio session, which was at home, so the physio was able to see ds moving around a bit more. She gave us some exercises to help with transitional movements (ds tends to get stuck on his face) and she talked a lot about ds's lack of awareness of where he is in space, something that hadn't really occurred to me before. Best of all she is going to refer us for weekly hydrotherapy sessions at a really lovely pool, she thinks it is definitely one of the best exercises for ds. We have had to miss the last 2 sessions we were doing, and i haven't been able to take ds swimming for the last 3 weeks because i have burnt my arm really badly, it was getting me down a bit, but this really cheered me up. The physio also seemed to think ds would benefit from a different walker in the future, because all though he has started taking independent steps he tires so quickly that he just collapse onto his face and all the tone goes out of him.

Gosh, that turned into a marathon post! I haven't even got to talking about your blog posts, Missmavis, I will just say that i spent the whole time reading them, nodding my head in agreement. Oh and this is the car seat we have, it is great, the physio approved it, and said that it provided enough support. I also use one of those travel pillows around ds's neck as his head has a tendency to slump in the pushchair and carseat.

Its been busy on here. Sounds like a whirlwind all round. I'm still sending you good wishes used2. I hope your DD recovers and has no more fits for a while so you can all settle down and settle in for a bit.

Sooo disappointed for you about the OT Mavis. Dammit!
I know Ive been talking mine up and I would hve thought an OT would be helpful with the proprioceptive stuff Orange struggles with. I so get the feeling about services just not being aimed at you. I find that with the childrens centre - am so angry about that still.

Hazey - Im glad the eeg went well in terms of sleeping/crying etc. Its disappointing it did not coincide with one of your DS's turns tho. I hate how inconclusive it is. (I als hate that horrible thing of wanting something bad to happen so that it can be analysed)

We are waiting for MRI results. Hopefully we will hear something before we go away next week.

On friday is the last of this recent run of appointments. I will be glad they are done. I always feel spaced out during this - I think I go into a weird state trying to process what is happening.

Hi everyone,

Just a quick update to say that we've just been notified that we entitled to middle rate care allowance for DS1 and that they'll write to us just before he's five as he nay then qualify for the mobility element too. This is what I was expecting. So reproved it's over with for a while.

Update: saw the geneticist today for the first time. He cant see any outward signs of a genetic condition but we will participate in the DDD study (brilliant! we are both keen on research and the additonal tests are good too)

But the absolute best thing was that he had access to the new MRI scan pics and could do a comparison of them to last years on the spot: DRUMROLL:

There are no new areas of white matter and the existing ones have stayed the same (or possibly even shrunk) Huge .

I wasnt expecting this result yet - really hoping we'd manage to have a word with someone before we go on holiday next wed so this is just a lovely bonus. At least the nightmare scenario is not the case (nightmare being that the brain abnormalities are worsening/multiplying)

Hanbee - great news of the DLA !!! they should ahve a champagne emoticon. I want a champagne emoticon!

Firstimer, so glad you've had a good news day. You deserve one. I hope you'll have a really happy and relaxing holiday, are you going anywhere nice?

Thanks for the congrats. Amazing you understood my message as it was so full of incorrect iPhone corrections to my typos! I must check before I send! DS1 topped of today by starting to say "more", a massive breakthrough

Hi all and thanks firstimer. Have only caught up with this last page so may have missed stuff but lots going on!

Firstimer that is such good news, and so great the geneticist was unexpectedly able to give it to you.

Hanbee great on DLA, OMG must get my forms in!Also great news on DS saying more!

I have news, the neurologist rang me to say the doctor we saw for thhe neuro disability check (disappointing nothingy appointment I had been building up to for ages but thats by the by) had spoken to him about DDs recent seizures. He wanted me to repeat what happened and said ok it sounds like refle anoxic seizures which are when stress or traauma such as blood tests, injury , illness etc triggers the heart to stop and dd to lose consciousness briefly and fit.

Doesnt sound like fun I know but it is benign and I am just relieved its not epilepsy! Still a bit cautious with my relief as the eeg did indicate epilepsy but he said that could be down to family history of it.

Hazey glad you have the EEG out of the way

FirstTimer, so glad that you had some positive news, and that it came before going away. I hope you have a fantastic holiday.

I just called the geneticist, because now is around the time that ds's results should be back, and the secretary said that the notes are with the registrar, who is on holiday, which means the results are in, but we have to wait for her to return, before we get them. I wish I hadn't called now, because I am going to be gnawing my nails and having a churning stomach all week, knowing that the results are coming, bollocks.

We just had the most lovely weekend, it was my birthday on Friday and I had a fantastic day, including a bouncy castle stonehenge (bizarre!), a cricket match (with champagne and scones) and a concert during which I cried at my lovely girls singing and playing their recorders. Then we had a weekend of summer fetes and seaside, and it was just lovely. Unfortunately ds had an episode in the car on the way home, his legs were jerking up and down in the car, which is unusual because he is normally quite floppy, but they looked very stiff, and then he started doing his strangled gargly scream, it was horrible, the veins in his neck were very bulgy and i had noticed just before that he looked as though he had blue lines coming out from his lips (which sounds odd, i'm not sure how else to describe it). The girls were freaked out, and we raced home. He was clammy and drenched in sweat, it was horrible.

Sorry, meant to say - well done Hanbee on the dla, such a relief.

Also, glad that you had some news about your dd1's seizures, Used2. Still horrible, but it must help to know what is the cause behind them.

Sorry to hear about your DS's funny turn hazey what a shame after a lovely weekend. The EEG results at least for us didn't take as long as others do so I hope you get answers soon. How upsetting that the results are in and you can't yet have them! I hate that kind of thing, lots of sympathy. And happy birthday for friday!

I am going to get in touch with the support group for the reflex anoxic seizures today I think-I had thought oh another support group as we seem to be acquiring more of them with the growing list of issues and diagnoses we seem to have but they can be really useful and when DH explained to the health visitor what they were today I thought blimey I had no idea that was what caused them! Just gets tiring finding out about this stuff all the time doesn't it?!

Thankyou used2, it is strange how much information you gather along the way. Our gp often says to me, 'well lets both have a google this weekend, and we'll compare notes next week'!

have any of you heard of or used Brainwave? The nurse at our dr's surgery told me about it last week, and I have had a look at their website - it looks wonderful. I have no idea how much the initial consultation is, but I contacted them, so hopefully will find out soon.

Well that's peculiar.

Just had a letter from the geneticist saying that the results of the cgh array are normal, but from his clinical presentation and facial characteristics, her and her colleagues would like to test for Kleefstra Syndrome. They would also like to do an inner cheek swab to test for mosaicims that wouldn't show up in a blood test.

Hmm, got that weird feeling of having a door opened, only to find myself in another room full of doors....

Oh hazey that sounds a bit of a shock. Especially on a letter, hope you're ok.

Hazey, sorry to hear about the funny turn and then an out of the blue letter. It's so perplexing, isn't it? Just on we all go from one set of possibilities to another, just makes you wonder whether we'll be searching for answers forever....

I just had a quick google of Kleefstra syndrome and am do glad I did as I found this most amazing testimonial on having a child with disabilities, on the support group website. More eloquent than I could ever be:

www.kleefstrasyndrome.org/index.php/living-with-kleefstra-syndrome

(hope it works, no idea how to do links)

Hi all,

I have come across this thread (tried to read it all ,but just too long!!) Do you mind if I join you?

My 11 month old has been struggling with painful muscle spasms (dystonia) and involuntary movement episodes since 6 months old, having 20+ episodes per day. He is also developmentally delayed and at almost 1 he isn't crawling, babbling, pointing, waving, clapping and only just started weight baring on legs when held.

We currently have no diagnosis and are waiting for genetics (which could take years) and final results of our lumbar puncture. So far we have had 4 X EEG, MRI, 2 x ECG, EMG, Optomologist review, lumbar puncture, PH study, impedance study & 6 x bloods - all normal so far. My poor little boy is in so much pain from the spasms and has been through so many tests. But he is such a happy baby and laughs the day away - we are very lucky in that respect.

We also did a month long stint in hospital where he picked up a bug and had a terrifying series of seizures. So I am petrified of him getting ill!

Anyway...long story short, its been a bit of a tough few months and I would really appreciate being in contact with people who are going through similar experiences. I really don't want to isolate him, but I am finding baby groups etc really tough. The gap between him and other babies is getting bigger by the day. He also doesn't sleep at night from the spasms and the sleep deprivation just makes it feel that bit worse.

That all sounded very negative, but I am very blesssed to have my little boy and we couldn't love him more.

I hope you don't mind me joining in the chat!

Thanks
Sarah

HazyJane Brainwave is about 550 pounds- the one in Essex. I'm just trying to get funding for it via the charity Cerebra.

mumtojackson, hello, welcome! That sounds really hard on you, the waiting is very difficult. Come on here and talk it has really helped me.

The consultant rang yesterday to say they don't want to offer a multi disciplinary assessment now. I understand this but think it should have been done two years ago.

She seemed to be sying give up on finding a cause. She said dd has complexneeds and she'd like to get the nurse to do a passport thing with it all on one thing so it brings it together. Other than that to carry on as we are. Not sure I can tbh!

Hi everyone

Welcome mumtojackson, it's sounds as if you've been having a really tough time. I think seeing your little one in pain must be one of hardest things there is. I've found this board a great place to talk to people who understand how it is and they always seem to know the right things to say too which is often not the case in RL I've found. We all share the information we discover too so this thread has been invaluable to me in many ways.

Used2, that's sounds like a really odd conversation, did you challenge her and ask if she was meaning you should give up searching for an answer? I've had several professionals look surprised when I've mentioned finding a cause and have always responded by saying we need to know the implications for his brother and other people in the family. This seems to always have them scurrying away with a "yes, yes, of course"!!

Not much to report here as we've all had a vomiting bug since the weekend - oh joy!

hanbee poor you with the bug!

Yes I asked where that leaves us as she was going on about the children on their books with more severe issues so I pointed out that as brilliant as it was that she drew a picture for her in the appointment (she was saying how great an improvement etc) we still have an almost six year old who cannot even make herself understood enough to tell people her name!

I also asked what I could tell people about why dd cannot communicate. She said she will summerise it all on the report. I think I will wait for the report then write a letter asking for more clarification.

Not sure where to go with it al next. She said school are responsible for assessing where her development is but I am not convinced they can be in depth about social development etc.

Sports day today at school=torture for parents of children with sn. I ws feeling sick about dd but she manged three races with her one to one worker to help her so did well but was overwhelmed and exhausted after (as was I!!)

Thanks for the welcome both! Good to hear experiences of people a bit further down the line. We are still pretty new to all this and getting head around things like DLA. Scary to think in a few years we will also be dealing with things like schooling!