Here some suggested organisations that offer expert advice on SN.
Oh Bloody Hell I'm not ready for this!!!(54 Posts)
I phoned up the Paed about the Section 332 form (found out it was sent over to Education in October last year,so now need to contact SenCan...)
While I was on the phone, I enquired about how much longer I would have to wait for his Microarray results...
Turns out old Paed has left, results are more than likely back and in his file, not been contacted because old Paed left with minimal notice, threw dept into 'disarray', so 'may have been forgotten'.
They are checking his file and will be ringing back to tell me results if they are in his file.
I'm not ready for this!!!
If they have found anything, it will be not just what is causing HIS disabilities, but also what is causing DD and DS2's disabilities too.
I'm shaking that I may finally have an answer after 15 years of stress.
What if nothing showed up? What if something DID?
Fuck, I didn't think I'd feel like this about the results. I've been waiting for answers for so long over 3 DC's that I thought I would just be relieved if they found an answer but I'm scared and shaky and nervous and just everything all at once.
I think I need some hand holding. Which is unlike me. I'm literally physically shaking.
Sounds like positive moves afoot though, Merry - well done! I spoke to the research nurse for my local DDD centre today. She said they may take another year before the first results are out
DS3 has an appointment with the Preschool specialist teacher so that she can do an assessment to determine how much support DS3 will need at preschool for his statement.
So I am assuming that when the preschool panel met the first time, they decided that he will need a statement BEFORE he starts preschool, they are just deciding how much
or little help to give him.
I'm hoping that he will get 1-2-1, as then he can go to any preschool.
DS2 : I now have the orthopaedic consultant's letter.
It states that he scores 8/9 on the Beighton scale, (would be 9/9 if he didn't have the kyphosis!), has kyphosis as a result of his Hypermobility syndrome, needs Physio from the head of musculoskeletal physiotherapy, orthotic inserts in his shoes, and probably OT as well.
So basically he is being re-referred back to all the departments that discharged him when he was 6yo, that shouldn't have discharged him.
I have got fed up with the unwillingness of my local GP to refer on to rheumatology, and have booked a PRIVATE appointment (costing £300!!) with Prof G for him in May. Meaning I have time to save up for it!
Bye bye to my DLA for a while!!
I'm hoping he (and therefore the rest of us) get a diagnosis of EDS.
Been to GP today, if I write a list of my concerns about DD and DS2, he will refer them on for ADOS testing.
He's not happy about sending DS1 for testing - but I think that he may change his mind when he gets the letter from DS1's school that he has asked me to ask for.
And HE told me to film DD when she has meltdowns.
The DDD study is seriously delayed. DD1 was one of the first to be included in our area - 18 centres, 500 children per centre initially. The first 100 from each centre got an extra swanky test on top of the usual swanky tests the DDD is doing.
DD1's samples went off almost exactly 18 months ago, in August 2011. I phoned genetics last week and was told that very few results have come through yet, because they had far more candidates than they expected and it's taking far longer to analyse than they expected.
So, while it may get a result in time, it's not going to get you anywhere fast.
Moose - that's all I got with DD and DS2. But yes, new Paed, new SN HV, things are being 'shaken up' a bit here.
Tbh, though, it seems to be for the better. Everything has moved so much quicker for DS3 than it ever did with DD or DS2.
Spoke to SWAN UK, getting some advice there, there ARE further tests that can be done, that are more detailed than the microarray tests.
And even the Paed said that given the family history, there HAS to be 'something' there, we just haven't FOUND it yet...
Ah, that'll be why it's different then. Ds1 was nearly 9 when he had his multi-dip assessment.
Mind you, we also just got a load of out-of-date leaflets for charities, which for the most part were closing up shop and that was that.
They do the group assessments in our PCT but only for DC's that are under preschool age. It's a multidisciplinary approach, and it lets them see how well (or not!) the toddlers interact etc. seems to work better than the old system we had here, which was that nobody ever really got a formal diagnosis, just the Paed telling then they were 'on the Spectrum', handing the parents some leaflets, and sending them on their way!
Sorry you didn't get the answers you needed.
Oh Couthy, I was really hoping you would have some answers or at least a lead.
I think the problem is most likely that they haven't identified all the genetic disorders yet, so if your family fall into one of the unknown categories they just don't have the answers - yet.
At least wheels are in motion for the ASD assessment now - I've not heard of group assessments before though.
Star - I knew the SN HV was coming to do an initial assessment, telling me the genetic results was meant to be in addition to that, but the SN HV said that her secretary should never have said that. I hope the secretary didn't get into trouble.
Update : Paed phoned and gave me basic results over the phone. She will send out a letter and his karotype soon. I won't get a copy of the full report
because they think all parents are morons without a subject request, which I will ponder if I want to do.
Results weren't what I was hoping for.
Nothing significant found.
So still no closer to an answer.
I'm in touch with SWAN UK, I'm going to speak to someone there tomorrow. They are looking to possibly get my family under the DDD study. Maybe they will be able to find something?
Feels a bit like I'm clutching at straws and that all the professionals are going to be thinking I'm bloody Munchausen's or something.
I just CAN'T see how 3 out of 4 of my DC's can be affected with the sane issues, how me and my Dbro can have the sane issues, how my Mother can have the sane issues, WITHOUT it being a genetic problem.
So WHY WHY WHY can't they find anything?!
It's driving me insane. I just want some answers.
But if they can't find anything significant on DS3's Microarray tests, then how else will they find anything?
I need to do more research to see if there are any other tests that are even more detailed than Microarray.
But I'm not sure that there is.
I feel so let down.
You can put in a subject access request for the information and include a request to see everything they have held on you and your ds.
You can phone them today and tell them the information you want by the end of the week or you will do this (a SDR is a pita logistically for them).
Also, send a not to the HV asap saying that you had agreed to her visit on the basis that you believed she was coming to disclose and discuss results and since she didn't do that please can she tell you what the blimmin 'eck the purpose of her visit was. (This will cover your tracks later and make sure she's more careful about undermining you).
Can you call your GP and see if they have a copy of the results? If so then make an appointment and go in person and insist that the GP give them to you. If they don't have them then ask the GP to request them so that you can then make an appointment to go in and get them.
Ex found the assessment difficult, but he has Autism himself, and felt like he was under a microscope. He had a bit of a panic attack/ meltdown in the kitchen after she left.
But he did ok during the assessment.
The SN HV also noted his lack of speech, and how 'severe' his speech delay is. She saw him using the odd word, some Makaton, some gestures, and a lot of 'putting' things in our hands. So at least she can clearly see the speech delay.
Don't beat yourself up about getting upset about their stupid risk assessments it isn't at all surprising and think how much you did deal with before then.
I don't have any experience re getting Ds's results but there must surely be a way. Ask for an earlier paed appointment? GP surely they will have a copy?
PALS if you don't get anywhere?
And does anyone knowledgable have any idea how I can get then to tell me the genetic test results sooner than the end of April?
If I don't get them till the end of April, it will be 6 months minimum before I get DD's back, by which point, she will be into Y11. Which won't help with getting a college to take her, if I don't have a full diagnosis first.
FFS. Right, appointment went ok-ish.
She put me & ex under microscope, looked at the way we interact with DS3
probably so she can blame us!!.
Saw the pretend play he has now, seemed to ignore the fact that I have been working like a dog to get him to 'get' pretend play, seemingly ignored the fact that just 3 months ago he had NO pretend play.
Saw that he makes reasonable eye contact with her (of course he did, she wears glasses and he's obsessed with anyone in glasses, he's looking at the effing GLASSES not the person, if she took them off and put them on the table he'd show no more interest in her than he would a bloody door), seemingly ignored the fact that even the Paed was concerned about his lack of the contact just 3 months ago.
When she asked about my concerns, I mentioned the tiptoe walking, and she said "Well I haven't seen that", when he was walking right past her, backwards and forwards on his tiptoes. She DID see it 'a bit' once I had pointed it out.
She asked us about our concerns, went through our 'list'. She took notes.
She noted that there is a strong family history of these same issues.
Assessment is in May, for Autism, under the multidisciplinary team - 4 weeks of assessments in a group with 3 other DC's with suspected Autistic Spectrum Disorders.
NOW...the genetic test results...
That I was told yesterday she would bring with her...
She has told me that they are back, but that she cannot discuss them with me, and we need to see the 'doctor' so that the doctor can explain the results.
(I just want his effing karotype so that I can get DD and DS2 tested)
His next Paed appointment is in APRIL. I'm not waiting till then to hind out - that would mean that every professional would have the information about him over two months before me and his dad do. Surely that's not right?!
I'm going nuts here, because they won't test DD or DS2 until I have DS3's karotype, and whatever is 'wrong' chromosomally with DS3 is what's 'wrong' chromosomally with DD and DS2.
I NEED an answer soon - DD is almost 15, and I want answers long before there is ANY chance of her falling pregnant.
I've been 15 myself - in fact at just 15y10m, I was bloody pg with DD, I need these answers.
Why are they making me wait so long, and is there any way I can make the Paed (or geneticist if that is who they think we need to see) give us the results before April?
The SN HV obviously seemed to know the results of his genetic microarray tests, but won't effing tell me or his dad. We are his PARENTS. How do I make them tell us?!
She's also told me that they are going to have to do a risk assessment to see whether I can continue to take DS3 into the sensory room due to my epilepsy. They may say no. Which would mean DS3 missing out because of MY disability. But the SN HV was very quick to
repeatedly point out that it would be to 'protect ME' , definitely not to discriminate against me.
I make a risk assessment on the likelyhood of me having a seizure in the sensory room every time before I go in. Sometimes I will sometimes I won't. They don't ever turn on the strobe lights when I go in there, and I'm fine with the fibre optics and the illusion box.
I kept it together, was well spoken and mostly knowledgable during the assessment, until the stuff about DS3 possibly not being able to to into the sensory room if their risk assessment seems it to be too risky. Then I started sniffling and having to hold back tears.
I don't give a shit if I miss out on something because of my epilepsy, like swimming. I DO care if DS3 misses out on going in the sensory room because of my epilepsy.
And it doesn't matter how many times the SN HV SAYS it's not to he discriminatory, it doesn't make it FEEL any less discriminatory!!
Argh! Fluffed it at the last hurdle because of my hang up about people not letting ME make my own risk assessments and decisions wrt my epilepsy.
Also thinking of you this morning, hope you got some answers and you are ok.
Thinking of you. Hope you get whatever it is that is the 'better' news.
Your ex never gets a week of just for him?
What parent does?
Thinking about you merry, hope she turned up.
Nerves kicking off, SN HV now 15 mins late for appointment!!
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