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?

Thanks firsttimer. Your daughter sounds lovely.

My son is lovely too! He is gorgeous and happy and alert, he throws his arms and legs up and down each morning when I go into him and his huge blue eyes melt my heart every single day. He is so so loving, his loving has replaced all the things his peers do, and the things he 'should' be doing.

I started to worry about him after he rolled at 4.5 months but hasn't progressed in any way since. His not being able to sit was the most obvious concern but he also doesn't reach for toys and I can't put my finger on it, he just isn't like the other babies, does that make sense? He is definitely getting stronger though, am boot camping him a bit and he is making progress, definitely stronger in his core and will now hit his hand out at a ball. He is hypermobile and has feet and hands permanently in his mouth, part of me thinks this is the reason he shows little interest in interacting with the world around him. I definitely think he looks avidly at the world around him, he just doesn't interact with it.

Does any of this sound familiar? My DH thinks physio will sort him out and he will catch up but I am taking the open mind route! Just can't work out where my head is about it all!

Hello

Ds is still coughing like an old man who has smoked 40 a day for his whole life, but he is loads better in himself, he can stand up again now (too floppy a couple of days ago) but is still pale and tired. Dh has had his only weeks holiday of the Summer (most of his holiday has been taken up with appointments and hospital stays), and as he said, 'well so far a typical Hazey family holiday - pneumonia, hospital, genetics nurse paying a visit, 2 anxious girls and 2 knackered parents!' We did have a really lovely day out yesterday, to a wildlife park, ds was wrapped up well in his buggy and the girls had a fantastic day, it felt like a huge relief after the last few days.

The genetics nurse came to our house to do ds's cheek swab, she was fantastic, I think she was surprised at how interested I was in the whole genetics thing, and stayed for ages talking about it. She said ds's sample has been sent to Holland to Dr Kleefstra's research team, so it may be a long wait.

MissMavis - how is ds? I hope he is over the worst of the pox and the infected spots are healing well.

FirstTimer - Lovely to hear about dd walking so well. Ds's seems to have faltered somewhat. He won't/can't take more than a few steps before collapsing or wanting to be picked up. We were doing well with his walker, but he struggles to steer it, we are seeing the physio in a couple of weeks and she wants to assess him for a new one.

Hello to Charliegirl and Ouch, I'm so glad you found us. This whole journey has been such a huge learning curve, but having this thread and sharing everything with everyone on it has helped so much - I hope it helps you both too.

Ouch - your boy sounds a lot like my girl at 9 months. She started sitting shortly after whcih I was relieved at. Then was worryingly unhappy and passive for a long long time. Getting her pincer grip meant she suddenly 'woke up' - started reaching for things, taking an interest. But that happened at 14 months. Hopefully you will see something similar (maybe a bit quicker than my girl!) but it is exhausting having a child who isnt interested in anything and worrying why this is. She also slept terribly at this time - maybe cos she just never got physically tired - I was insane with exhaustion.Good hes making progress with his core - physio has helped us a lot.

hazey - sorry your holiday was so tiring. My girl definitely regresses noticeably when she's ill. Maybe babyhazey is the same? Once shes well the skills come back - takes a little while tho. But I know what you mean about going floppy. Glad you had a good day out - you deserve one.

swimming lessons
Any one thinking of starting / started swimming lessons?
Took DD to Swimability her 1st lesson on Monday and it was great.
Don't know if they do this local to anyone else, But if you were thinking of lessons i would definately say to go.

Basically they cover everything that "normal" lessons do, It's just a group for children with Disabilities.

Just has local authority disability support person over and really found it hard not to ask her why she was wasting all our time. I could just see her ticking off mentally 'no actual diagnosis' 'dont know if it will be enduring and persistent disability' ah then we dont have to fork out anything. Sign off.
What a pointless 45mins - are we going to get a back payment if it turns out at the age of 5 that it was enduring and persistent? Like some sort of sweetener. Congratulations your child really is disabled, so now we will pay you the past 3 years of support we sould have paid out from the start. Sorry for not paying it earlier but just think if she was normal you wouldnt ahve this lovely payout. They go on and on about assessing 'needs' only to tell you that you dont really have needs if you dont have a diagnosis. Grrrrr

Sounds like a right PITA firsttimer. How do you cope with this kind of ridiculous situation? Do you just get used to it? Part of the trudging through treacle experience?

We've had one of those days where nothing really goes well. DS only managed a half hour nap this morning so I took him out early rather than hang around the flat wishing sleep on him. Took him to a packed rhymetime at the library, of course he decided he wanted to breastfeed halfway though, he's reverted to wanting lots of breastfeeds and being really fussy with it, on and off the boob all the time. Oh how I wish he would just lay there all serene feeding quietly (have given up wishing he would have taken a bottle) He then woke after an hours lunch sleep coughing so I braved him in the pool, three minutes he lasted.

Does anyone else ever feel that what are normal daytime activities for other parents are still missions that fail unless every ingredient is measured absolutely correctly? I wonder if his unsettledness is all part of his delay or if I just haven't got his rhythms cracked. I feel like we are a stuck record, stick at 4.5 months.....

Was the disability support worker over wrt your dla application, firsttimer? The whole thing sounds so frustrating.

Lac,I have been taking ds swimming 2 or 3 times a week (basically 'cuddling in water'!) he started some hydrotherapy, but I had to cancel the sessions because I had a really bad burn on my arm, but he is starting weekly hydrotherapy in September. The physio said that the sessions become swimming lessons a s they get older.

Ouch, I think I have had lots of days like that with all 3 of my children!! I find any groups like that hard - especially when ds was the age of your ds, as he was tired a lot, and when he wasn't sleeping was very vacant, so didn't seem to be getting anything out of them. I did baby massage (despite him being 3 times the age and size of all the other babies) and that he and I loved (although I would cry buckets afterwards).

Hello missMavis, I'm glad ds is on the mend.

The genetics nurse sent me the details of a local SWAN type group for children without a diagnosis, I am going to look into it.

We took the dcs to soft play today. It was hell. Ds couldn't even manage in the little baby bit, the girls (who are both really anxious) would only go round with me or dh and I ended up falling down and spraining my ankle -I feel jinxed!!

Excellent news Mavis about your mum potentially helping you more. Would make a huge difference.
Ouch - I must confess to giving up on mainstream childrens activities for a while. I found it too upsetting for a while. Song time was best of the bunch. Swimming was always awful - she didnt like it, didnt move in the water and so was freezing within 5 mins. I ahve 2 days a week with her from October and will give it another go - but may focus on trying out SN groups and services. I could do with meeting some RL parents in a similar situation. I really struggled whn D was 9 months - she slept awfully badly and was terribly blank and miserable. I would constantly flee from playgroups/softplay and classes with screaming baby - felt a total failure as everyone else had kind of found their stride by then and I was just floundering. Or feeling my face ache with fake smile as someone would say 'oh shes just taking it all in' (she bloody well wasnt taking it all in!!! It felt so pointless to try these activites and have the sense she didmt even really perceive of them.) I remember at that time switching from hand me downs and second hand clothes to new bought clothes because I had it in my head that everyone was looking at her in her old clothes and thinking she was so delayed cos I couldnt be bothered - as tho the clothes somehow indicated we didnt care about her. Maybe irrational but I felt so judged. Dark times.

The disability support person came over in advance of a 'child in need' assessment requested by is. In part also because of H's MS.
At one point I just said 'you know he needs proper rest to prevent further episodes. If he deteriorates because of the current situation then we'll be on your books for the next 20 years. Help when she's 5 isnt really the issue here.' Her eyes just went wide. Bizarrely I had to try not to laugh (clearly losing it!)

So good to hear about the progress that you are all having - really encouraging.

I am having a bit of an up and down week as LO turned 1, which was lovely, but also really hard, as it means a boat load more milestones that we are no where near. We just don't seem to be making any progress at all. He is finally at the age where we can't hide anymore. It is now very obvious that something is wrong, where as when he was younger, no one would really have guessed. His involuntary movements are much more pronounced. It brings some tough emotions, as when people stare at us I start to panic about what could happen to him at school age, when I am not there.

I am also really struggling with not being able to give him a sibling. My LO has a huge amount of pain with his condition and not knowing the cause, we can't risk it. I am nervous that without a sibling there I am going to inadvertantly isolate him and wrap him up in cotton wool. I can feel myself doing it already - I just don't want anyone to hurt him or upset him. I always planned to put him in nursery etc, but because of his pain I can't go back to work and he is with me all day. As my career is not looking like something I'll be returning to (which I am sad about) I would love to have another. I want there to be some balance in our household, rather than everything being about this unknown condition. PLus of course I want another baby - I am making it sound like they would be just about supporting DS and that's notwhat its about!. Really weird as this is the least of our problems to be honest, but it is breaking my heart more than I ever thought it would!

Sorry - that is a massively whingy post! I think we are just in that transitional period from thinking all was fine to coming to terms with the major problems my DS has (which didn't appear until 6 months and then progressed dramatically from there). Seeing the posts from those of you further down the line helps me to see that it will get better!

I find birthdays really tough mumtojackson. Im so sorry about your son being in pain - we sometimes wonder if certain screaming episode are pain related and its an upsetting thought. Have you made any decisions yet about melatonin or anything else to help with sleep? Can you do things for pain management or is he too young for some of that?

ON the feeling sad and singled out because your child is different and you realise people are starting to notice. I had a long phase of that especially around her turning 2. But I did find I came out the other side of that eventually - over time I just grew a harder, more defiant shell. I think many people are curious/sympathetic and I tell them something if it feels right/necessary. And otherwise I just made the decision that I wasnt going to let anyone else stop us enjoying ourselves - that is starting to feel more and more like second nature. It took me some time to get there but (in the hope of being reassuring) it did come for me and now I often genuinely dont care anymore.

Thanks Firsttimer. I know we will get through this and I had a lovely day with my beautiful boy in the park today. I just need to get to the point that we can have great days around other children - because I know that is what he should be having. It is just me who wants to burst into tears every time I see a child his age..he doesn't care who he's with and at the end of the day all I want is for him to be happy.

We decided to give melatonin a go when he turned 1. I went to the GP (the hospital had written a letter asking them to prescribe it) and it turns out it is unliscenced for children this age and they won't prescribe it, so I need to go back to the hospital. No one can do anything for his pain. They need to find the neurological cause of his muscle spasms. We are on drugs trials, but nothing has worked so far.

It is so hard watching him in pain 20+ times a day, but despite the tears and screams of pain, as soon as it is over he smiles. It amazes people that he can recover like that and I am so proud of his bravery. I have read forum posts from adults going through his condition and I know that the pain is intense. It is a massive cliche (and I really am not one to say things like this) but he is my little hero & always will be.

Handhold and a hug to you mumtojackson. I hope they can do something for him soon. And wishing you luck with the sleep.

If it helps at all - I gave myself permission not to be ok about it all until one day I finally was actually more or less ok. So until quite recently I let other people do things with D and other children and just accepted I just couldn't handle it - it upset me, made me angry, made me jealous, made me feel paranoid about what others thought of me/her. So I bailed and I think that was a good decision for me.

Ugh - had one of those days where you see how much other children her age can do....may resort to wine and...perhaps even baking
Hope everyone's doing OK

Sorry to hear about your day, Firsttimer - have a rant on here about it, if you feel it would help.

I have had a looong day with friends over in the morning (6 dcs) then dd1's friend in the afternoon. Ds has got into a pattern of napping really late, he will fall asleep anywhere he is so knackered, then being awake all evening ( he is squooshed in next to me watching the Disney channel, because if i have another child filled minute I will pop!)

After the bumbo thread, MissMavis I have printed off the picture of the Otter chair to show ds's ot who we are seeing on Mon. It's daft I have got so used to bathtime being me standing ds in the water, with him holding the side, while I quickly pour a jug of water over him, that that seems normal now!

MumtoJackson, I hope you find some way to help your ds deal with the pain. It is not the same thing, but ds suffered horrendous reflux for the first 10 months, screaming in agony for hours, it was awful, until eventually the paeds put him on the right medication.

I am getting tired of the Summer holidays now, I want ds to get back into the routine of nursery and swimming and music, and the dd's desperately need to get back to school before they drive each other insane!

Hi mumtojackson, I also have a 4 yr old son with the muscle spasms you describe. dystonia. he is not delayed in other areas though has a few behavioural issues. we are waiting on genetics. We have another child who is unaffected. He doesn't seem to find the spasms particularly painful, though I know there are lots of different types. Do push for the melatonin. DS went on something to help him sleep for a time (not melatonin, not sure what it was) and it definitely dampened down the spasms.

Just wanted to say hi!

Hi

There's been so many posts since i last was hear so sorry if I don't respond to
everything!

Mumtojackson, it must be horrible to see your child in pain, i find it difficult enough to see DS1 frustrated and angry. I send you a virtual hug.

I've had a friend over this afternoon with her two DDs, like you firstimer its only then it hits me how different DS1 is. He just can't cope and had to spend most of the time sitting with my mum having a cuddle after the zillionth time out for hair pulling. Sigh. Its awful to say but its near impossible to docile with him there now; i have to completely focus on him or he creates mayhem, i can't chat or play with DS2. I feel guilty that i know i'll go back to planning play dates for his preschool hours in September.

Ho hum howing for a good weekend for you all x

hello bassington, I hope your post gives some hope to mumtojackson.

that thread about warnings on dummys has had me in a slump of guilt all afternoon. Ds still has a dummy to sleep, it was a lifesaver when he had reflux, the only thing that would give him any comfort. I remember the nicu nurse asking if it would be ok to give him one, as comfort when he was on cpap, it felt pretty hard to deny this naked little boy who had never been cuddled something that could provide comfort. It was used to help him learn to suckle, which he never had the reflex for. But considering his severe speech delay, drooling and poor oro motor skills that all just sounds like me making excuses now. Ugh, it is amazing how some random person on the internet can make you feel so shit.

Ooh yes to over shopping. I have developed a serious online supermarket shopping addiction, due to a combination of not being able to drive and not being able to face going to Waitrose (my only local supermarket) with 3 dcs in tow (well sometimes I do, but it rarely ends well). The trouble with online shopping is that it is very easy to be sucked into offers - 'ooh 3 bottles of wine for £12!!, mmm, oh go on then 3 bars of green and blacks'. I am tucking into both as I speak/type

Yes the bumbo one got me as well, the bath sponge made me laugh in particular, the thought of lying 13 kilos of 2 year old on a sponge, is making me giggle now. I think it is the fact that it is not something that would ever have crossed my mind before, same with dummies. I am not a naturally judgemental person, and have always thought ,'different strokes for different folks', but suddenly things that are actually quite huge for me wrt ds, may be being judged by people who really haven't got a clue.

On both those threads though, it was good to see your name on there and feel as though I wasn't alone.

Hanbee, sorry i missed your post. Hope you are ok, it sounds very frustrating. We had tea with friends who also have 3 children, and I spent the whole time having to carry ds around with me, because he cries when anyone who is not me, dh or the girls comes near him, he wouldn't eat, when I tried to put him down he would fall and just lie sobbing on the ground - exhausting.

MissMavis, so true about not sitting silently in the corner. I have been on many threads on mumsnet, where people will point out that a child may have special needs (older children in buggies is always a good one), only for someone to roll their eyes and say, 'oh but we don't mean you..' it feels like you are being put back in your box and told to pipe down. How anyone knows which child may have additional needs or what the particular circumstances are of that person's life are before they judge, is beyond me.

And breathe.....

I am trying to organise a fundraising day at the dds school, for JeansForGenes day on October the 5th, I have sent an email off to the head to ask for permission to organise a whole school thing, and am feeling a little nervous now that she may say yes!!

Just wanted to pop in thsi evening ladies. Wine was drunk, felt better. There are some right opinionated bigots on here at times. Sometimes I dont think they realise how dumb they sound sounding off about xyz while clearly not really having given it any thought. (God I do that myself often enough...hmmm) AnywayI wont read bumbo/dummy threads. I do sometimes trawl hw like you and often find myself chucking 'the not everyone is like that' in - sometimes it works sometimes feels pointless.

Wondering if I am up to watching the autism documentary - but suspect curling up with a buffy episode might win that partic war.

Night all - have a good weekend - Mavis - so glad orange is over the pox - I didnt realise it had got so bad. big hug. Hi also to bassington. Thanks all round for the support - sometimes I just ahve a day when it hits again.