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OK, so not Williams, but mismatched delays, microcephaly, abnormal EEG, HELP!!!!(16 Posts)
I thought I'd give you lovely supportive ladies an update on my wonderful 2.11 year old!
(Brief Recap: Preschool asked to assess for SN, AIO assessed - full 1:1 for all sessions. Then a second set of 'falls' with no explanation ¬ GP, who sent us to hospital.
24 ECG, due to murmur, EEG, bloods (10 vials) for genetic & metabolic syndromes, urine, etc. CT Scan on Thursday, etc.)
So the FISH test came back after only 2 weeks, -ve for Williams Syndrome.
EEG was abnormal - provisional report is that she has spikes, so is at risk of overt seizures. Consultant doesn't want to rush in with meds, but wants a 24 hour EEG and a video EEG done. Open access to ward in mean time, will start meds if any funny business in the mean time.
Head measured 46cm, which is <0.4th centile. DH on 98th centile, I am 50th, so needs investigation. CT Scan is Thursday, MRI under GA at some point.
Been referred to a geneticist, although could take some time, but apparently me being pregnant bumps us up the priorities a bit.
Murmur still heard, so ECHO needed.
He did a developmental assessment, which he said was odd. DD is assessed as the level of an 18 month in some areas, 24 month in others, and a couple 36 months (she is 35 months). He said her profile is quite unusual, as her expressive language skills are ahead of her receptive language skills.
How severe is an 18 month delay at the age of 3? I read about "mild", "moderate" and "severe", where does DD fall? 18 months doesn't sound huge, but it is half of her life so far!!
Anyway, the result is:
Refer to SALT, OT, Physio, Audiology.
1:1 at pre-school.
Wait for other tests to come through.
Open access to ward if seizures seen.
Phone his secretary if worried.
It turns out that he is the paed that attends the educational panels, so it has tied in nicely with the education service referral.
Thank you in advance for your replies for a worried mum!
Good luck with the further testing. I would say that 2.11 is a little young to determine whether your dd is mild, moderate or severe - in my experience, paeds often start out using 'moderate' to describe a child and then progress to using 'severe' (if necessary) as the child grows and has more chance to develop.
could the seizures be causing the delays? That might explin the mosmatch if she has seizures in one part of her brain. Visible seizures would probably only be the 'tip' of the iceberg as it were.
Has she had an MRI to rule out brain damage before? It would also show brain malformations which i am not going to list cos you'd look them up!
Does sound like they are on the ball though.
No idea about the mild/moderate etc. DD is classed as severe CP cos she can't move at all but I've seen kids classed as 'severe' CP walking so I have no idea, and mild delays caused by her severe CP and visual impairment.
Thank you, MMAJ, he didn't comment in those terms at all.
Just to say that I doubt she has true microcephaly, as her head circumference is just <5th percentile on WHO charts, but <0.4th on hospital charts.
dd was labelled microcephalic but she just has a little head.
Oh Lou, don't know what to say. Good news and bad too, that you still have no answers.
DS has a spiky EEG too (NMC educated me on it last week, ta ). That's the bit I find very hard - it's like I'm waiting for something bad to happen
Sounds like she's doing brilliantly though, and the hospital seem to be being very thorough and quite prompt with their tests.
Here's to the next lot and hoping you get a bit nearer to a diagnosis.
Till then open/direct access to the hospital is a godsend. we've got it for DS to and tho, I haven't used it for about 3 months now, it is a relief to know it is there.
DS also has a little head. Nobody has said microcephally yet, but I suspect they will in the future. I like his little head.
Good luck and please keep updating us x
Thank you both. It is just so hard to be having information that I don't feel I can 'use' - I have the Health Visitor visiting on Tuesday, and I feel like I need to get balls rolling.
Should I be thinking about things like portage, DLA, etc., or is a 12-18 month delay too insignificant. But then it is almost half of her lifetime, too!
How on earth is DH going to keep her still for a CT scan when she doesn't like loud noises? I feel so guilty that I can't go in with her because I am pregnant .
Try and get portage etc in place, there can be big waiting lists and better to cancel if you don't need it than not have it if you do.
Its the same level of delay that my ds3 had at that age (well at 3.2). he ahd a greater delay in all areas of language.
The delay is quite severe tbh but at that age not necessarily permamnet- he could well catch u quite a bit, ds3 has done in manya reas. Not language / speech yet (but may never, asd- he could talk if he wanted, thugh physical stuff impedes carity immensely apparently) but on many other things he is doing great and hopewfully will continue to; he's gone from sevre to moderate which for us is pretty cool!
Do look at Dla- it can be used fr therapies and all sorts of things that can make life easier and a bit more enjoyable for you all. They decide if you're entitled not you: you just fill the form in truthfuly (have a look at the cerebra guide on their website).
Thank you, Peachy, I thought it sounded a bit severe. I have read your blog, and think your family sounds like a lot of fun as well as hard work!
sorry to hear about your DD's falls. sounds like the hospital doc is v. good though, getting all this testing and stuff underway. DS had a very similar profile language wise to your DD at that age - expressive language came out slighter better than receptive, receptive language at 3 was at 18-24 month level - I was told by private SALT he was severely delayed. 20 months on his speech is much better than it was - superficially his expressive speech can hit normal range - not conversationally, as answering anything but the simplest questions c can be rather hit and miss, but if he is requesting/commenting to me particularly if there is something visual in front of him. So officially he's probably now in mild range. So at this young age things are not necessarily set in stone. As his language has improved, so has eye contact and concentration.
It does vary though Lou- if there are published guidelines for this stuff, they hide it!
Lou, you do need to access things like portage, physio, salt etc as it will make all the difference. Early intervention is the best possible way forward.
My daughter (8)has microcephaly (though also debatable as neuro says, its in proportion) epilepsy (only just developed) and an undiagnosed GDD or m-sld, whichever way you want to look at it. We started off with the moderate GDD label which is now severe. Things at your daughters age can go either way. She may make good progress, she may not. The best thing all round though is that you get the RIGHT help, which is po0rtage etc. Also look into educational settings, nurseries, sn nurseries etc as these area great help too.
I hope you are okay. I remember the early days well; and they were just full of worry. JUst remember to ENJOY your daughter as much as possible, she is still your little girl, nothing has changed xxxxxx
Thank you all so much - all opinions are so welcome, and it makes everything a little less lonely.
The health visitor is coming tomorrow, and I will ask about portage & support generally. With another on the way, so 3 under 3½ in April, I feel I will probably need it if I am ever to leave the house!
Lou, Sorry to hear you are having all this worry about your little girl. Hopefully the referrals to salt / ot / etc will come through quickly and I hope that you can find some support. Sending <<hugs>>
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