Showing posts with label Fragile-X. Show all posts
Showing posts with label Fragile-X. Show all posts

Monday, 14 January 2008

And the good news is...


...that we don't have Fragile-X syndrome, which as you can imagine, we are pleased about. However other investigations continue to see if any other chromosomal abnormalities are present. Funnily enough, the search has shifted away from the boy to the possible cause of my own eye problems: namely STICKLER SYNDROME. There is an interesting website and support group here.

Monday, 3 December 2007

FRAGILE-X SYNDROME


We saw a geneticist at Guy's Hospital on Friday who took a detailed family tree and felt there was enough evidence to make a blood test worth doing on Jordan. Now it must be said that when there is blood to be taken Jordan is usually the one clinging to the light fittings and screaming but between his father and two doctors Jordan had blood taken! He certainly didn't like it but it is for the greater good...

Check the link on the left for more details of the syndrome.

UPDATE: Excellent support group courtesy of FRAXA with thanks to Sally.