Interesting development Chez Jaded

[call me jaded]

We were at the genetic clinic on Wednesday. They have been following DS since about 3 years old and have always been very interested in whether there might be an underlying syndrome. They have conducted an increasingly expensive series of tests that have all been 'normal', but the geneticist, who I get on with very well, has vowed to get to the bottom of it at some point.

 

Well it seems a penny dropped as we walked into the room and there is a very rare condition that a professor at Great Ormond Street thinks is more common than currently recorded and we will be off at some point to get x-rays of DS's hands and if they show the right thing (which they will) we'll be scrutinised rather thoroughly.

 

 

Having googled I have found only three published papers about the condition and just a list of symptoms. Trying to get my head around the double whammy: autism and syndrome. Or (shock horror) he's not autistic at all??? There so little info out there.

[Kathryn]

Hope you get some answers soon, Jaded. It must feel strange to be under this kind of scrutiny!

 

Take care <'>

 

K x

[bid]

All this uncertainty must be really difficult

 

Hope you get some answers soon <'>

 

Bid

[call me jaded]

He has always been a bit of an anomaly and it's good to get a bit closer. The geneticist said she had been able to diagnose as seventeen year old (with something else) earlier in the week, so it's as much about developing science as anything, which is quite exciting.

 

 

ETA: there were only five people recorded as having this condition until August 2009 when the most recent paper identified another 18!

Edited September 14, 2009 by call me jaded

[Mandapanda]

He has always been a bit of an anomaly and it's good to get a bit closer. The geneticist said she had been able to diagnose as seventeen year old (with something else) earlier in the week, so it's as much about developing science as anything, which is quite exciting.

 

 

ETA: there were only five people recorded as having this condition until August 2009 when the most recent paper identified another 18!

 

Hi

 

What is the condition called? Hope the outcome is good for you either way.

 

[baddad]

Ooer, missus...

Hope the investigations go well, and while a bit boggling at the moment it's got to be a good thing long term to know what you're looking at - even if it's not what you thought you were looking at and you were looking down the wrong end of the periscope. Er. As it were...

 

very, very best

 

BD

[thomastank]

 

 

Good luck with your answers, hope you get them soon.