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?

I am sorry you are feeling so worried, Firsttimer. This post is going to take ages to write, because i will have to do it in dribs and drabs whilst 'managing' the chaos of 3 dcs each trying to destroy the house/each other/my sanity - so bear with me!

I just wonder what support you have now? It varies so much from area to area, but I'll say what we have and see if there is anything you feel you are missing -

ds has had a SOGS and a ruth griffith assessment, the ruth griffiths is far more accurate at assessing the level and areas of delay.

he sees a physio and an ot, every couple of months, to discuss ways we can help him physically to play, have his Piedro boots fitted, discuss what equipment might make our live easier.

he attends a special needs nursery, twice a week - i go with him, and he sees a SALT here (although I'm not happy with the way this works), they have key workers who carry out a programme designed to help each child, which is worked out by the physio and SALT there, they also have soft play, senory room and music therapy. It is a free nursery which works on referral basis, but ds also has a CAF statement which means funding is available for him, i believe this is assessed regularly and will change as he heads towards preschool/school.

he sees his paed once every 2 months, this is to discuss various medical issues and arrange tests etc

we are just about to start weekly portage

he has an annual team around the child (TAC) meeting, in which all professionals involved in his care, and us, sit around a table and discuss the best support for him, and what tests etc are needed. He had one at 10 months and is due one in May.

We have a very very supportive and helpful gp, who we see every couple of weeks, she has been our strongest area of support really, always helps contact people, and makes sure I am not overwhelmed (I saw her when ds was first assessed suffering with a lot of panic attacks and anxiety).

Some of this works well, other stuff I feel needs to be changed, and it does seem sometimes that I spend my whole day trying to arrange meetings appointments, etc.

I find the really exhausting thing is that ds doesn't sit and play in any way at all, unless we actually play with him, and even then it will usually only be one small repetitive thing -hold ds's hand, put shape in hole, open box, hold shape in hand put in box etc etc. Fortunately we have the dds who will play with him ( a little bit!), but it is also this that takes us away from the dds, because he needs constant attention.

Do you know anyone in rl with a child with sn? I found things a lot easier when I got to know a lady in town who has a ds a similar age to mine with a chromosomal disorder, we go to music and swimming together, and it helps to see them both having a great time despite not being able to walk or talk etc.

Of course I also have friends with nt dcs of a similar age, and sometimes it is hard, but we were friends before having ds and so have come on this whole journey with me.

As far as the autism thing goes, I suppose I feel with ds this wouldn't be apparent until he was older, as he in so many ways is still such a little baby (well, big baby!). Have you started any threads on here about early signs of autism in young/delayed children? It does seem as though there are a lot of very knowledgable people on MN wrt this area of SN. There is also a very good private paed who has been recommended on here, if you are very conerned that your dd is showing any signs.

Sorry this is such an enormous post, but you sounded so lost and worried, and I think we have all felt that way at some point on this bumpy road.

Blimey, that really was a long post!

oh and thankyou for asking about ds - he is loads better.

Just in time for his barium swallow test on Friday - yikes!

We have physio (monthly) she suggests things to encourage her walking. Physio really helped with getting her to crawl but progress since then has been slow.

We have SaLT (every 3 months) there's v little to work with as she has almost no language. My H did a Hanen course and we have the book. We work on paring down language, repeating, anticipation games and language related rituals to try and teach particular words. We try to use signing to reinforce basic words but everyone is using slightly different sign systems (the professionals, nursery and sing and sign) argh!
We have portage, used to be fortnightly now once a month. I dont find it that helpful tbh. She tries out toys and suggests sources of support.
She goes for nursery rhyme stuff at the library and I am hoping to take her to music classes for SN children again plus more sing and sign.

Her nursery do story time and singing and different types of play. I am not sure how good they are at engaging her. She likes it there tho. The various professionals are doing sessions with nursery staff in the next months.
I have started functional learning sessions - but she hates it, altho I notice her focus on her hands is getting (a tiny bit) better I am thinking of taking her swimming on the weekends, but we are tired.
Still waiting on OT.
There are no more investigations planned for now, except a second MRI in summer
I am so scared and so frustrated. I feel we become more and more alone in this as she gets older.

Hi hazey just cross posted w you. Will go read your post

with regards to testing, have they done all the genetics ?(sorry you probably have said earlier). I am frustrated with ds's paeds because after a 7 month wait for an mri, which was an awful procedure for ds, they have decided that actually a genetic reason is more likely. I have been pointing certain things out since the beginning - mildly dysmorphic feature, tapering fingers, preauricular pit by ear, toenails that peel off, over large tongue, drooping eyelid, broad flat bridge of nose, but it is only now that they have put all these things together and decided to refer us to a geneticist, who will do finer genetic testing - of course this will take a bloody age.

Thank you both for the detailed posts. It really does help as it gives me some sort of yardstick. I am going to ask about a CAF. I dont know if we have one. At the moment we have full time childcare (nanny and nursery) that we pay for from our increasingly meagre savings. She loves both but I dont know if they really do enough with her. I would like to be part time and do a bit more, esp meet some parents in a similar situation. But I was exhausted after my H was ill last summer. We have no other help and I am scared of getting rid of any childcare in case I cant cope. Looking after her takes a lot of input plus she still cries a lot and we have to figure out what she wants. I find I am a better parent when I dont do that all day long as I just run out of patience sadly.
I think I will speak to pead and portage about what the plan is now and what else could be considered etc Maybe there is some funding for more input we could try to access. We cant really afford to continue like this in any case

how peculiar, my lovely gp has just phoned to tell me that the blood tests that were done before xmas, will have to be redone because half the blood samples were unusable.

i am incandescent about this, the blood tests were horrendous - it took forever and ds has been impossible ever since, when we go to the drs or any hcp touches him. Also, the last paed we saw said that all his blood results had come back normal, so we were relieved because some of the tests were for very worrying things, now we find out that half the results hadn't come back, so the worry is still there, god i feel sick.

I cant believe stuff like this happens hazey. Its an evil sucky world out there. Really angry for you too. Alos on the fact that its now feb, you thought this was done, but oh no!

Well have calmed down now.

Tests asked for are

Torch screen
immoglobulins
phytanate
very long chain fatty acids
trans ferrin isoforms
acyl carnitine
plasma lactate
venus blood gas
another full blood count
liver function tests
calcium profile
crp

just a few drops of blood then!

Gp said that the consultant had a meeting with another paed to decide whether they were strictly necessary and they have decided that they must be done, but they are going to get a registrar in to do the tests and I have asked for a nurse that helped with his cannula insertion at xmas, to be there - she was fairly old school, but she understood that no amount of distraction was going to make a difference, it just had to be done quickly and efficiently.

I feel as though SALT is the one area where I would really like some extra input - ds hasn't even started babbling yet, and the SALT said that really we are doing all we can do at this stage of verbalisation (ie the very earliest), he enjoys anticapatory games and songs and has done 3 signs, but only does them if we ask him to do them, iyswim. Do you think hanen would be suitabe for him, anyone who has looked into it? He really does just make 'uh,uh,uh' sounds, and i think part of the delay is physical, as he is unable to make the jaw and tongue movements necessary.

ok have just arranged for it to be done on Friday, when ds is going to be going in for his barium swallow test. I was very insistent that the test be done by a registrar, and that there are 2 nurses on hand - one to help hold ds down, and one to treat bloods and prepare them for transport.

Friday is going to be hell.

Hazey- so sorry about needing more bloods. I hope tomorrow goes as well as it can.

Mavis - I have the Hanen (buy it at Winslow and save £££s) I found it really good. Its given us a lot of confidence that what we are doing is the right way to go.

ok, todays the day, wish us luck!

long but good day yesterday - got to the hospital at 10 and left at 2!

barium swallow went surprisingly well - i was pleased because our SALT, who I cried to over the phone, turned up on her day off to help out, and so we had the radiologist, a SALT feeding expert and our SALT, ds was amazing, sat happily in the machine, and ate and drank a variety of stuff with barium mixed in, dh and the pro's watched from a little room. So it seems as though ds isn't aspirating food (this is fantastic news, as there has been talk of him being tube fed), but food moves very slowly down (due to low muscle tone), and has a tendency to pool in the throat area - from this they have guessed that he probably does aspirate saliva into his lungs, when he lies down, which means when he gets a cold, he also aspirates all the snot and goop, and as he has reflux he is probably aspirating some acid too. The feedingSALT is coming over with the video of what they saw to talk through it all and she is going to have a meeting with ds's paed to discuss the best way forward.

the blood test was the usual balls up. Although we had warned them ds was coming in and the bloods being taken were very unusual, there were 8 samples needed and ds is very difficult to get blood from, when we got there a jr dr strolled in and said, 'ok so let me see what the blood sample is for ......oh, these are a bit odd, i don't think we do these here, that is an awful lot of blood....'
fortunately i had a bolshy, don't mess with me head on yesterday, and said we would happily wait if they wanted to find the consultant who had ordered the bloods and a registrar to take the blood, as we didn't want a repeat of the last time the bloods were taken. 20 minutes later, the consultant and a registrar came in, apologising profusely, it took her 5 minutes to take the blood needed, ds screamed but it was over quickly.

ok that was a bit of a splurge, sorry - i needed to get it all off my chest!

hope everyone is having a good weekend.

Hazey - you get bolshy mummy prize. Well done, glad it went ok.

thankyou.

maviscruet, the reason why it was suspected that ds was aspirating was because of his frequent chest infections (6 in the first year + bronchiolitis, and several visits to drs with liquidy sounding chest). He drools a lot and had episodes where it would seem as though he was choking on his drool when he was lying down. There are classic signs of aspirating food - gagging, choking, frequent cough, liquidy sounds after eating, eyes watering when eating, going clammy when swallowing. If you are worried, then you could ask a SALT feeding specialist to watch your ds eat.

we hav both been wiped out with a sick bug, so are curled up on the sofa recovering.Poor ds was sick for 24 hours and hasn't eaten since Sunday, he is weak as a kitten. He is managing to keep dioralyte down now, so dr thinks we can avoid hospital.

Had a depressing chat with fil last night, dh had told him how the videofluoroscopy had gone, and that we were going to see the paed yesterday (we had to cancel due to sickbug). So last night he phoned full of beans, saying had the paed said that ds was going to be fine, and that he would just grow out of it all. it is so difficult to explain to him, that ds has issues that aren't going to just go away, he thinks that we are being negative when we say that ds is disabled or that his problems aren't going to just go away as he gets older. I think dh and i are usually fairly positive about ds, but we have to be realistic, everything he achieves takes a lot of hard work. When ds took a few steps behind his walker, fil said, 'see i told you he would walk, just a late starter'. without seeing all the physio we had done, or the fact that he has spent months in a standing frame twice a day to help his posture, or that he has to wear Piedro boots to help him stand on his strange, scrunched up feet. And that 2 months later, he is no closer to walking than that first day, and when he does walk behind his walker, he is exhausted afterwards. Anyway after talking to fil last night, i felt awful, as if i was crushing the hope out of him, I suppose the older generation has a very black and white view of disabilities, because we have no name for what is going on with ds, it isn't real, and if he has 'got' something then he is doomed to a life of suffering.

Sorry to blurble on, too much time recovering on the sofa, stuck in my head with my thought!

How is everyone?

Sorry its hard hazey. I find family really difficult at the moment, mainly because you'd like some support but then find yourself having to 'manage' them instead.

I have currently put myself on a hiatus from dealing w anyone because I cant cope with them. Not saying this is a good tactic but I am starting to think 'whatever gets you through' is allowable right now. So if I need to give someone a brutal explanation of whats going on I just do and I am sorry but I cant manage other peoples feeling on top of what is already a havier load than I can bear. I also think that if I just want to ignore and say mm hmm to everything then I do that and I tell myself its really not my primary problem right now.

A strategy forged in desparation. I dont recommend it really in terms of how you should do things. Just that for me thats the bit of the barrel I am scraping and at least it keeps me sane (ish)

sorry that sounds so urgh! of me. Actually I hope you manage a better relationship around this than I am at this time.

Thanks for inviting me to this thread hazeyjane. I wrote a long post yesterday then pressed the wrong button and it disappeared.
I've read the whole thread and was really overwhelmed with the feeling of relief that I finally found other parents with similar children. I already gained lot of important information about the diagnosis system. e.g. I'm no longer so scared about the MRI we waiting for,thanks to you.

Our story: My DD who turned 2 a week ago has hypotonia and moderate to severe global developmental delay.We just got her diagnosis from the developmental pediatrician. Her SaLT assessment came the day before and it says: she presents a significant delay across all areas of communication.Her skills are similar to a child of 10-14 months of age.
It's a lot to take in and sometimes I'm not coping very well with it.

Apart from all this medical jargon my DD is a lovely little girl. She affectionate,funny and just beautiful. She learned to crawl at 16 months,although she was commando crawling at 10 months,it took really hard work from a private physio and her to get there. She sat up by herself at 15 months. She stood up at 18 months and started cruising at 22 months. The physio says that it could only take another 3 months for her to start to walk.
I just can't imagine that,it would be so amazing. She wears piedro boots and they're a massive help for her.

She's going to have a brain MRI and hearing and eye test as well as blood tests. They didn't mention a genetic test,although the dev. pediatrician's first question was to me and my husband: Were you related before marriage? I know they have to ask this but it just came out of the blue then.
How do they do genetic tests?

I could definitely do with some hand holding on this rather bumpy looking road.:) Thanks!

Hi varga waves...glad you made it here

hello Varga, nice to see you here.

It sounds as though you are following a similar path to us as regards testing. Ours kicked in fairly early as it was clear from about 6 months that there was something up. With ds I have always felt as though there was a genetic cause, but once they had done genetics tests (blood tests) to rule out the worst possible scenario, they then said they would do MRI, blood tests (metabolic), eye and hearing tests and it is only recently another paed said we should see a geneticist. I am guessing it is partly to do with the expense of some of the genetics tests.

Every time we go to the hospital, or see a different dr, dh and I are asked if we are related, it throws us every time! They also ask about family history, which is a tricky one, because I know little about my father's family, except that I have a brother somewhere with cerebral palsy and my father had bipolar disorder (I suddenly wondered whether this was relevant recently, as i've never mentioned this to the drs, but bipolar is supposed to be genetic).

Ds is still suffering from the sickness bug, it has completely wiped him out. He is like a rag doll, and I can feel how much weight he has lost, he hasn't eaten since Sunday, and this is our 5th day of sitting on the sofa, with me syringing dioralyte into him. I am getting serious cabin fever!

Oh Hazey, I keep hoping the illness is finally over. Think you might need some addictive DVD boxset with lots of age inappropriate violence to keep you sane. Thinking of you and sending you DS b