Parents of disabled children-Special needs forum support group

HI

My youngest daughter is 18months and has gross motor delay she has just started standing. Yay. she has generalized Hypotonia and is hypermobile, with possible abbsences. myoclonic jerks in her sleep and shuddering episodes. she is very bright and speaks lots.
She is a frequent night waker and becomes very rigid and inconsolable.
she has had FBC and MRI,EEG with various results.
Her Paediatricn has sent her to a neuro at GOSH for an opinion (of what i am not sure?)
after that i am hoping for a diagnosis for her. As not having a name for her problems, I am finding really hard.
so would love to hear from anyone with similer problems or just waiting for Diagnosis themselves. well thanks for reading
:)Starlight

Hi, i have 3 boys, 2 of which have an undiagnosed genetic condition. There are also other children in the family that are undiagnosed, it's like trying to put a jigsaw together with loads of bits missing.
At this moment in time we seem to have exhausted all tests, medical and genetic so now we sit and wait for science to catch up with us

It can be a very tough time awaiting result after result.
I remember before my son was diagnosed with a condition called cystinosis they were doing numerous tests and finding nothing.
Blood test after blood test,a genetic test which they lost

And when they found nothing a simple URINE test and this showed inbalances in the body chemistry which made them run a specialist test and we got a diagnosis.
The diagnosis was actually far worse than all the smaller tests they had previously run.

Oh and if the genetic testing which was lost was not lost and actually read 3 months earlier then we would have found out earlier.

But hey that was then

Keep with it and dont be afraid to put pressure on the doctor's and dont be fobbed off thats my only advice.

Hello, I am equally waiting for diagnosis, my son is just a year and had several problems, he has had in excess of 200 bloods, 2 mri's, 2 eegs, 2 ecg's, ultrasounds, xrays, genetic testing and much more and is tomorrow having a 2 day admission for a great deal more including a LP.
I have been warned my son may never get a diagnosis or not till at least 3 years old, so I do feel your pain, its hard, but I am just going each day with hope and instead focusing on all the therapies and help I can give my little boy.

Kara
xxxx

we to are waiting chloe as had mir, eegs one abnormal 2 clear, lp, bloods.
chloe as sezuire type episodes,GGD,aponea attacks,hyptonia, hypermobile, BPT, feeding isuses, fundo, gastrostomy and drop attacks , gerd, ddh,