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Here are some suggested organisations that offer expert advice on special needs.

Rant, release diatribe alert

12 replies

kiwisbird · 24/02/2004 19:06

Took Ems (dd aged 16 mths with Noonan syndrome, mildly)to the MCRP doctors qualifications exam day today - as test subject given her intersting symptoms...
Crap day!!
Hate doctors esp ones that are not yet qualified consultants and scared the crap out of me
Today we had misdiagnosed, Ems has ...
massive ventricular septal defect
Fontanelle too open but not bulging so outlook is not terminal
Squint, astigmatism, gross motor delayed, probable mental deterioration and possible terminal cardiomyopathy in the heart..
Infact their progs were SO wrong one of them got asked to leave for "discussion" as 3 lots of parents were in tears (yes incl me)
These are qualifed doctors, the ones called paediatricians you see in A+E etc
One young lady out of 18 doctors spotted Noonans, correctly identified a basic "easy" heart defect and told me, she's gorgeous, above average fine motor skills, not great at walking (cruises well)but given her weight (16lbs) prob to be expected, her personality is vivacious and conversation is advanced as are her senses.
FYI this doctor was a woman
Doing it all again tomorrow, my consultant came and spoke to me afterwards and offered a comprehensive of exam of Emmy tomorrow after exams to put my mind at rest..
So stressed....
I know her eye is a problem(ptosis always watering, not as mobile as other eye), she is seeing opthamologist on urgents next week...
Sorry am going on, thought my baby might be dying for about one hour today
FREAKED
Ems is actually healthy noraml 16 mth old toddler, aside from that she cruises rather than walks
Arrghhh
Where is the wine?

OP posts:
lou33 · 24/02/2004 19:09

Come into the bar Kiwi. We had that once with dd1, who was born with hydrocephalus, heart defects and has ehlers danlos syndrom (collagen deficiency causing hypermobility and bruising among other things) The docs were clueless, and I wouldn't do it again with ds2 (cp). It's horrible isn't it? Send them back to the starting blocks.

collision · 24/02/2004 19:10

That is absolutely appalling and I am shocked that they put you through all that. Cant believe that you have to go again tomorrow. She sounds so lovely as well. Hugs to you

hmb · 24/02/2004 19:10

Poor you, hugs.

I teach a boy with Noonans. He is in the top third of a top science set. He has no obvious congnetive problems. I'm not saying any of this to play down the condition, but to tell you what you already know...people with noonans can be just plain ordinary folks.

Hugs to you and Ems who sounds Fab. Yar boo sucks to the stupid medics.

kiwisbird · 24/02/2004 19:11

I've hit the bar LOL here and on "here"
Waiting for pizza

OP posts:
twiglett · 24/02/2004 19:12

message withdrawn

kiwisbird · 24/02/2004 19:12

Thank you for being here
My husband is stuck at Waterloo with a points failure...

OP posts:
lilibet · 24/02/2004 19:19

Kiwi, sorry to be thick but what is noonans?

kiwisbird · 24/02/2004 19:22

Noonans Syndrome, search on here or on Google
Ems has it miledly no actual effect to ehr at all, bar low weight gain and small heart defect...
Sorry this is crap explanation, I'd normally be better but ohhh today
try www.birthdefects.co.uk it specialises in NS
xx J

OP posts:
aloha · 24/02/2004 19:29

How shocking and upsetting for you. I agree, you need a drink. Your dd sounds lovely, and there's nothing behind about cruising at 16months - my ds didn't take his first steps until 16 months and that was literally a few steps. My friend's 15 month old has only just started pulling up and beginning to cruise very tenatively. I think it's a shame these drs are working but the good news is that your dd is just gorgeous

Tissy · 24/02/2004 19:45

Kiwisbird, the pass rate for those exams is pretty low, I believe, and they are not allowed to call themselves "paediatricians" until they've passed, so the majority of the junior doctors you have seen today will stay junior until they have acquired some common sense! Unfortunately, one way of sorting the wheat from the chaff is to throw in a subject with not much wrong with them, and see what they come up with- they will have spent the last few months revising everything and will have been expecting something rare and peculiar, not a pretty normal child. The fact that they can't diagnose a simple heart murmur, in addition to the fact that they've demonstrated absolutely no tact, will mean that they will not get through this part of the exam. If it's any consolation, there probably all (except the young woman ) crying into their beer at this very moment.

BTW, I think your consultant should have warned you to expect a load of bllcks from them, and to ignore everything that you hear. You'll know better tomorrow!

kiwisbird · 24/02/2004 20:34

My consultant called later this evening - well he called my DH as home phone was engaged and apologised, as I only did the afternoon, I did not get the "talk" at the beginning of the day.
They are being very supportive really. I really thought it would be interesting and not stressful at all, how naive!
Have pics of dd at "rival website" if anyone wants a pic can email or give link etc
Need reassurance I guess
Thanks you all
this website leaves others for dust

OP posts:
Davros · 24/02/2004 21:13

Well done for doing it, at least they will have learnt something. Your consultant sounds nice.

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