![EMILY JEAN and KOOLEN DE VRIES SYNDROME [formerly 17q21.31 microdeletion syndrome]](http://4.bp.blogspot.com/-fte5oieB5CM/UxL49XoufZI/AAAAAAAAAy8/4uKUtGCrpCc/s1600/Blogger%2BHeader%2B2smaller.jpg)
WHAT IS NYSTAGMUS ??
Nystagmus is a form of involuntary eye movement - we were at the Orthoptists at our local hospital yesterday and Emily has now been diagnosed as having this. {one more thing to worry about...}
At our appointment in January {view here} Emily's eye sight had deteriorated especially in her right eye... I am pleased to say that she did better yesterday, so the concern has switched from the visual deteriation to the new diagnosis.
I had mentioned my concern at our last appointment as I was watching her doing her eye test - her eyes had quite a wobble going on - they explained it was just her way of focusing!!
They explained to me yesterday that the Nystagmus could be one of two things. It could be due to a focusing problem as her brain tries to trace the item she is trying to look at - but a simple test they did made the Orthoptist think otherwise.
The second explanation is that a Nystagmus can occur when a squint has been present and untreat from a very young age. I hate to say "I told you so". My concern was always passed on to the professionals that Emily had a squint from around 5 months old - as you will have read in my previous post, the professionals never saw it......... so here we are 3 1/2 years on and the squint {that was never actually there !!!} has now caused a new problem for Emily.
WHAT NOW ? The Orthoptist has now decided that Emily should see the top consultant, I've always questioned why we have never actually seen him sooner, but you put your trust and faith in the professionals! She will be seen within 3 weeks. It may be that nothing can be done but it was also mentioned that they may decide surgery could be the way to go.
Emily - age 7 months.
CAN YOU SEE HER SQUINT ?
Tracey, I so hear you. I only wish that the "experts" would start listening, I am hoping like anything that Emily Jean has not had any backward progress because of the delayed diagnosis on her eye condition. Andrea, mum of El.
ReplyDeleteNot one more thing to worry about my friend.... just another thing that makes your Emily unique.
ReplyDeleteLove & Blessings.
Good luck with the top consultant. Make sure you go with a list of questions. I also take lots of pictures of Gracie's eyes with me, so that the doctor can see what she is doing with her eyes at home.
ReplyDeleteGood luck and keep us posted!