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| Andrew Latham
I
have the condition Hyperekplexia. I want to get awareness across to
people about this condition. I finally got dianosed when I was 21, now
34. After going round all the hospitals etc as a child to find what was
wrong with me. I guess there alot of people with Hyperekplexia around
the world but doctors have said they got something else. I find the
condition very interesting and always postive and would love to contact
others to share similar experiences or parents with newborns. I hope
people contact me and then we can get this group going.
Karen Snyder
I
was diagnosed at the age of 33. I have adult onset hyperekplexia, which is even
more rare. I found Andy on Facebook, where he had created a small
support group. We started emailing and then progressed to weekly phone
calls. Having someone to talk to that truely knew what I was saying,
and had experienced it himself, has made all the difference in my
life. I think I would still be wallowing in the depths of depression,
if it weren't for our friendship. Andy has a very positive outlook on
life and living with Hyperekplexia.
Rhys Thomas
I'm a neurology doctor and researcher from Wales, UK. At Swansea University (UK) are always keen to hear from people with
hyperekplexia symptoms (stiffness, startles and stumbles). We perform
genetic testing here - on a research basis - (which means it is slow -
but at the moment, free of charge) - for the two genes known to cause
hyperekplexia GLRA1 and GlyT2. We also then look for new causes of
hyperekplexia too. The group is run by Professor Mark Rees; Professor
Rob Harvey (London) is our collaborator when it comes to understanding
why the gene mutations might cause startling.
I hope to be
able to provide more information soon - but in the meantime if anyone
wants to contact me (our team) - just drop me a line.
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