From infancy Vegard has suffered from Infantile Spasms/West Syndrome. The fight for finding out why has been long and hard - but finally, after a five year struggle we got the diagnosis.
Vegard has a rare genetic disorder in Exon 8 in the CDKL5 gene.
So far Vegard is the only boy registered in the world with a disorder in Exon 8.
There are still quite few boys registered with this disorder in general, but as the knowledge of the disorder spreads, the number of boys are steadily increasing.
One can learn more of the CDKL5 disorder on this web page: http://www.cdkl5.com/
There is also a support group: http://uk.groups.yahoo.com/group/CDKL5/
This is Vegard's story.
DEar Inagh, I would really appreciate to have news from Vegard. I was reading you blog and my son has the same symptoms. He started the spasms a month ago, he is at this moment in ICU and I was searching in the internet about hypotonic and resistant Infantile spasms...
ReplyDeletewe are still trying to control spasms, but it has been difficult. WOuld you mind to send me a message? my email is luciana_hirata@hotmail.com
I do thank a lot for your contact!
best wishes
Luciana