View Full Version : Scoliosis update-diagnosis (Emma 4yrs)

05-23-2006, 04:02 PM
Hi everybody,

Well it's been a long wait, but I've finally got a diagnosis that helps to explain the cause of Emmas scoliosis. In the last 2 years she has been seen by 4 different ortho consultants and 3 neurologists, first I was told it was "idiopathic", then a neuro-muscular disease...they even investigated her for "Proteus Syndrome" (the Elephant Man disease).

At last after much "lobbying" I got her an appointment with a neurologist at Great Ormond St Hospital in London. She was SO good. The appointment lasted over 2 hours, she asked questions none of the others have ever asked, and did physical tests that I've never seen done before. She got to observe all Emmas odd tics, that come out when she's excited, tired or stressed (arm waving, leg tremors etc.).

Anyway, it isn't a neuro-muscular disease, it is neurological. Apparently (despite negative results from the brain scan), damage has occurred (at or before birth) to the left-hand side of Emmas brain, and she is hemiplaegic, so the right-hand side of her body is weak and muscle function is impaired. Which has contributed to the development of the scoliosis. The neuro thinks there's also "something else" going on, due to the extreme sensitivity of Emmas torso, but she wants some input from the geneticist before investigating further.

The good news is that there's no damage to cognitive functions (Emmas got no learning difficulties at all), and there's unlikely to be any deterioration physically as the years progress, in fact there should be slow gradual improvement.

The news came just in time. Emma is due to start Primary School in September. She had two half hour visits at nursery from an Educational Psychologist, who decided that she was "autistic", because she "lined up dinosaurs in a ritualistic manner" and looked spacey (Emma had got up at 5AM that day...so I'm not suprised she looked "spacey" by 2PM!). On this basis she was recommending that Emma should be sent to a special school!

Well the report from the neuro shot that theory down in flames, and I've got Emma into a local mainstream school, which already has 4 pupils with hemiplaegic conditions attending. So they have all the physical adaptions and resources in place, and the support staff have special training for working with kids with physical disabilities.

As for Emma herself, well she's finally got over the constipation problem, and has gone from being a slow reluctant eater, to eating like a horse . She has decided that she HATES her brace (sigh), but loves her birthmark (she has a large strawberry mark on her forehead), she thinks it looks like one of the "bindi marks" the glam ladies in the Bollywood movies wear!

A last note re holidays. We just got back from Disneyland (Paris), their disabled facilities are great, the fast pass disabled blue card was brilliant, and the staff were so good. I'd highly recommend it to any parents with disabled kids. Emma is normally a real "scaredy cat" about rides, but she was dragging me onto all sorts of attractions, and the disabled access on them was excellent (including wheelchair access).

05-23-2006, 08:26 PM
congradulations on the diagnosis it can feel so good just to finally have a name for everything good luck you and emma are in my prayers

05-24-2006, 06:23 AM
Thanks, yes it is a relief to finally have a diagnosis, and to have a good prognosis for the future.
I read your own posting, hope all goes well for your little one, it's so tough seeing them go through this stuff especially when they're so young. I hope the treatments prove effective.
Best Wishes to you both.

05-24-2006, 11:04 PM
thanks Kate hopefully we are on the right track now it's funny they seem to take it better than we do........Khyler is so full of energy and zest for life sometimes i envy his out look on the world........ he's sooo much stronger than me... :)