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?

Hello Mum2j, I'm glad you found us, it sounds as though you and your ds have had a very hard time. What sort of support are you getting? Do you get portage, physio etc? I found baby groups torture at that age, then we were referred to a sn nursery which really helped. I am terrified about the prospect of school too!

Missmavis, I see from your blog that you have yet to hear from the geneticist. It has been 2 days since we got the letter saying that ds is being tested for Kleefstra syndrome, and i am already a wreck worrying about the results coming through, I am going to be stressbaking up a storm if I have to wait for months for them to come through!

Oh and used2, your talking about sports day reminded me of dd2 on her sports day. She has exercise induced asthma, and gets very tired because of some hypermobilty in her legs - on her sports day, her teacher carried her to the start line, gave her 2 puffs on her inhaler and she won the race! There were mutterings about a drug enhanced performance,but I was so proud of her!

Ah hazey that so sweet! Ha ha DD is on steroids for her condition I should have given her an extra tablet! She burst into tears after and was really done in the rest of the day but I was really proud she took part happily in it.

missm the life in limbo is horrible I remember well when we were waiting for this house six months ago and didnt know if it was going ahead. All in the distant past now it feels although I won't be doing it again for a few years!

Hope everyone is ok.

Feeling really down about the whole waiting for results thing. I am crap at waiting, and now it is something specific it is torture. I am wandering around and feel as though I am in a bubble, I have only told ds's therapists and my friend who also has a ds with sn, because I don't want people to be asking about it all the time. But of course I can't think about anything else.

I don't want anyone to be in the same boat, but it does help to hear from others in the same situation. Other people really don't get that thing about all clear results not being a big woo-hoo moment. I think maybe your right, I just need a few days to get over the fact that we have a named thing we are waiting for.

Can I ask, do you have a gut feeling about the tests for Young Simpson? Reading about Kleefstra syndrome, it all seems to fit ds so well, that I feel as though it has to be that, but I know how easy it is to see things when googling and ignore bits that don't fit.

Hopefully I can put it all to the back of my mind for a bit, and stop obsessing, I got into a huge panic today, because I lost the geneticists letter, totally irrational, because I can get a copy, but it was like losing a talisman.

I have to ask, why the blue hair?

The upside of all this worry is that i am really indulging in the panic baking, today was banana, caramel and chocolate chunk loaf...mmmmmmm.

Thanks. MissMavis - yep getting help from a local benefits advice service with DLA, which is a godsend!

Hazeyj - We start physio on Tuesday and have just started OT. I have never heard of portage though? I just looked on the website and I'm still not sure I get it! What exactly is it and do you get much benefit from it?

I am so sorry to hear that you are going through such worry a wait for test results. We found out 6 weeks ago that my son is very borderline based on lumbar puncture results for the metabolic disorder GLUT1 (glucose transporter deficiency). Because he is so borderline we need to wait for the genetic test to see if he has the gene. We have another 8 weeks to wait and it's torture! I am just trying to forget about it and keep really busy. I hope you area able to try and put it out of your mind for a bit...much easier said than done I know.

Ahhh baking, haven't done any for a couple of weeks now, I miss it.

I think Mavis is right on the waiting for results front. It's odd because I don't seem to feel stressed when waiting any more. I think I've just got to the point where his issues are his issues no matter what cause there is and no matter what label is given. I think I've even reached the point where I'm not sure knowing the cause of his problems will help us know what sort of future he and we may have. Things seem to vary so widely between children with the same diagnosis....

Mumtoj - you absolutely MUST self refer to portage. Basically a trained playworker will come to your house for an hour a week and do a play session with you and your child. They look at where they are now with their development and work on things that move their play and development forward in tiny steps. Our portage worker was lovely, my children adored her and we were all gutted when it had to end (they stop the term after they turn 3). I wish we'd got started earlier. They give you practical things to work on to bring their cognitive/play/ fine motor skills development forward and bring lots of appropriate toys for you to borrow.

Thanks - I will def get on the case with portage!

Thankyou for the sympathy wrt waiting for results. Feeling a bit better about it all today.

Mumtoj, definitely self refer to portage, we ended up a year on the waiting list, ds now has it weekly, and he really benefits from it. Our portage worker is lovely, and gives loads of advice and is just a good friend really.

Ds has learnt to dance, he does this footstampy, side to side thing whilst signing bird, his particular favourites to dance to is The Wiggles (urgh!) and the Phineas and Ferb theme. He looks immensly pleased with himself when he does it.

We are on chest watch here, ds has a horrible chesty cough, and was up half the night, a friends ds was in hospital over the weekend with breathing problems, apparantly the hospital said they normally see this level of chest problems in November, so I guess the weather can't be helping.

gosh, MissMavis, what a day. Sorry that you are no nearer any answers. A year seems like such a long time away. This is the thing isn't it, when all the tests are done, then what? It is hard because the search isn't over, but there are no more paths to go down. When the neurologist discharged you, did he have any suggestions about where to go from here?

I hope you can have a glass of wine tonight and get to do something lovely with your dcs tomorrow.

Hi everyone (esp mumtojackson - welcome)
We are back from holiday. Its been brilliant. My Hs family dote on DD and she has loved all the attention and been totally great - including a 3 metre walk that I have designated her first 'proper' walk!! I think the MRI result has been a huge burden lifted - I underestimated the degree to which I worried that she had something degerenative/progressive that meant we'd lose her eventually.

I am sorry for all of you currently locked in a waiting game. I know that weird feeling of wanting answers and not wanting answers at the same time, because any specific answer are all not things you'd wish on anyone.

I am going to complete the paperwork for the DDD study today.

I dont know if its been the holiday but I have had a good week of just enjoying her as herself and not having lots of moments of seeing what other children her age can do. Or maybe she is finally getting developed enough to be more interactive - shes finally more like a child than a baby and its fun. I guess the added adults in the house to take her out and keep her busy didnt hurt either. I'd like to keep my head like it is just now

Bums! I wrote a long post yesterday and its not appeared on the thread.

Hazey - hope you've avoided the chesty lurgy, I had it a couple of weeks ago (I also have exercise induced asthma) and had to have steroid tablets for the first time to help get rid of it. The stompy dance sounds fab, DS1 also loves to dance and will do so anywhere as long as there's music with a good beat. I love the way it brings a smile to peoples faces.

Mavis , not sure what to say. I never know whether I want to find DS1 "has" something or not!

Firsttimer - welcome back. Glad your holiday was a good one and "yay" for little firstie with the walking. I hope you can keep your head in this happier place too. In fact I heard a programme on the radio today about whether it was possible to choose to be happy and I have to admit I did think of you all (and myself). I think it is possible to choose to be happy, it's just bloody hard work at times and like everything you're not going to succeed all the time either. What do you guys think?

We've had an odd sort of day. I took the boys to a picnic at a local wood that being held by the Early Years Inclusion team who run under threes groups called "Small Steps, Big Achievements". Technically DS1 is too old but I took them anyway because I'm cheeky and I figured that with the showery weather it wouldn't be too busy. Boys had a lovely time playing in the park, in a tent with loads of sensory toys, painting with sticks and mud, fingers and mud, making muddy hand and boot print pictures, driving trucks through mud, digging it up etc etc and generally getting in a mess. I tried to be in two places at once: stopping them from eating mud, grabbing nettles, falling in the river. Then we went swimming, where they were both totally badly behaved and made me really cross. I want to do these lovely things with them but sometimes I just wonder why I bother............... Mavis, the team have promised to send me a form for me to give to you to self refer your DS to them as soon as you move down so that you can get him in the system (for portage, knowing about the SN groups etc.) without having make sure your registered with a GP first and having to faff with Health Visitors. They said that that way you could get the education/development side going without having to wait for the NHS/medical side, if you want to.

Sorry for v long post.

It is hard work Hanbee! I have days where I try so hard to give the dcs a lovely day, and the girls will spend the whole time squabbling (they do this A LOT at the moment!), ds spends the day screaming and I end up with a cracking headache and feeling like an utter failure!

FirstTimer, glad to see you back and in a positive place. It is lovely to enjoy time spent with your dd and have some family support. Yay! to the walking.

I took ds for our first walk today, very strange, to go out without the buggy - he used his walker. It took us nearly half an hour to get to the chemist across the road to buy the well deserved treat of chocolate buttons. Even in that short distance we got a couple of odd looks, but that might have been at the sight of an unkempt woman walking with a crouch going, 'come on ds, you can do it, are we walking, yes we're walking....etc etc' like some crazed fool. We had to stop every 5 seconds to try and pick up a minute stone, fall over, clamber back up again, applaud himself for getting back up again, and so on. I cheated and carried him and the walker home on the return journey! When people say can ds walk, I always say he has just started, and he will take a couple of steps between things at home, otherwise he has to hold onto me, or the walker or cruise, but my whole view of milestones has changed now that every minute detail of development is worked towards and recorded in his journal. So although he sat at 1 year, he couldn't sit consistently well until about 16 months, and although he first crawled at 21 months, it is only in the last month that he seems to have any control over it. It is strange (sorry for rambling, dh is out so it is just me, a snoring ds, and a glass of wine!)

Hi all,

Hope you have all had a good day and havn't been rained on too much! Firstimer - glad you had a good holiday. I think it is just what we need and you have inspired me to sort it out and try and book something. Because ds has had seizures I have been terrified to take him anywhere, but actually we could go somewhere in the UK and still get away from everything.

I was also wondering if anyone else has had major sleep problems. Ds is now 11 months and wakes around 10 times a night, with often a 2 hour stretch of being completely wide awake and wanting to be entertained. He now spends the second part of the night in his pushchair being rocked every 20mins or so. I get between 3 and 5 broken hours a night and have been doing this for almost a year - its killing me!! Its a combination of his painfuly muscle spasms (dystonia), involuntary movements, stomach pain from the medication he is on and just bad habit (but I could never leave him to cry). He also seems 'wired' after just a few hours sleep and has never slept - I do wonder if this is also part of his neurological condition. Its like after about 1am, he needs to be actively moved and rocked continuously (he goes to sleep at 8 by himself, no rocking & all wake ups before 1am can be solved with a gentle pat on the back) So...in order to preserve my sanity, the neurologist has offered to prescribe us melatonin. It may not do anything, but it may help. On the one hand I feel like I really don't know if we can keep going like this - sleep deprivation makes everything feel worse. But...I just don't know how I feel about giving him more medication. I feel like I would be drugging my baby for my own benefit. Has anyone had any experience of this?? At the moment, after a lovely day with my boy, I feel like there is no way I want to do it. Come 5am when I haven't slept yet I will no doubt feel differently again!

Sorry - that was much longer than I intended!

We have just had some great news. Pead called and said that the brainscan has now been 'interpreted as normal'. So they think the white patches a year ago are just part of a normal variation in the brain rather than evidence of damage. The relief is incredible. Not least because one of the letters noted briefly that white patches can also be caused by shaking. No one has ever brought this up with us but I have wondered occassionally: did someone shake her, did I shake her, have we caused this? I know we havent but my mind wanders sometimes.
Hanbee - About choosing to be happy - I often think that I need to get back to a place where I accept my life and take pleasure in it again rather than being in a panicked state of needing to fix this and running around (even just in my head) trying to have answers. I found this recently niederfamily.blogspot.co.uk/2010/10/amsterdam-international.html
And it describes my last year perfectly. It also acknowledges that I am still in the airport, amsterdam is some way away. I hope to get to amsterdam soon but...maybe being angry and sad and scared just cant be rushed. But I do work at trying to chose happy. Also she is just damn cute!
Mavis - loved your recnt blog entrys esp the speak up one - hurrah for you. was alos really nice to hear from a partner. SN sometimes seems such a 'women place', I miss having guys about. PLus thanks for the link to the uncommon sense blog. I read that in huge chunks - our daughters have the same name!
hazey youve inpsired me to try a walk outside too. Shes getting better everyday. Good for doing it and ignorng any stares. I am thinking of making a baby journal (like the usual ones) but really breaking things down for how our development actually goes. So will probably be until age of 5 or something but like the ones people get for their first year with pictures and mementos. She sat in the group at nursey songtime for 10 mins yesterday watching. Usually she crawls off on her own. I want to try to record this stuff and help myslef see that she is making progress.
Mumto - lack of sleep is really hideous. We have had some awful times with really poor sleep. I did end up with some controlled crying but would also not do it if D had more physical health problems. After 4 months of 3-5 hours a night I felt close to insane so I cannot imagine how you are doing. I might post about melatonin on the SN board and see what people advise. I dont know anything about melatonin myself in terms of side effects etc. But I do think its important to look after yourself (this is a marathon and you need to stay well) so I would tend towards giving it a go for a few months and then reviewing the situation once you are more rested. I found my judgement hugely impaired by lack of sleep - I couldnt deal with emotions/set backs but would fly all over the place. Not a good decision making state of mind. So FWIW I really dont think its just 'for your own convenience'. You being well feeds directly into the care you can give your boy. That is massively important - not selfish in any way.

OK huge post - totally happy!!!!!

for the last post.

Have to rush out now.....back later!

Thanks - I think you are right. Happier parent = happier baby, I think I am going to book a gp appointment to talk through melatonin. That was at least we have all the info.

I think your baby journal idea is great and I may do the same. We are making tiny tiny bits of progress, but when everyone elses baby's are off crawling or walking, I sometimes forget how far we have come. I am trying so hard not to get upset when I see friends children who are the same age - its tough though.

Would anyone mind sharing when their lo met milestones like sitting, weight bearing, babbling, walking etc and where they are now? At 11 months it feels like it will NEVER happen, but I know it will! It would be really good to hear about children that have got there - no matter how long it took. At the moment all I see is babies with no delay + every website keeps sending me annoying developmental e-mails!

Sounds like a plan mumtojackson. I would unsubscribe from the development updates, just upsetting.

If it helps: our girl sat unsupported at 9 months, crawled at 17 months (with physio help), stands alone 28 months. We are working on walking at 29 months
Pincer grip: 15 months, helps turn pages in a book 26 months
Maybe said a word: 28 months

No pointing or copying yet. We dont have any reliable sense of her understanding of language or her cognition in general

My daughters development is not really disordered in that it follows a normal pattern, it is just very late. We are doing genetic tests but geneticist does not see signs of a genetic condition. Pead and ABA have both said she doesnt appear to have typical autism (she lacks the asocial part of the traid). She had some weird brain scans but that all seems to be normal after all. She is a mystery. But she is almost walking and given that she is both sociable and can make sounds I am increasingly confident that she will talk - one day.

I think the stage you are at just now is really hard as you really see their peers turn into little children while ours remained a baby until very recently. Thats hard.