CACNA1E

The past few months have been extremely hard for Diyanna. I will post a blog about the last few months soon but first I want to share some wonderful news we received on Friday afternoon.

Diyanna has officially been diagnosed as having a variant of the gene CACNA1E mutation. This is the 1st step in finding a cure for her. The cherry on top of this research is that several children have achieved seizure freedom with the help of a drug called Topiramate.

At this point in time we haven’t got the information on Diyanna’s variant but we are having an appointment with her team on Thursday to talk about trialing Topiramate.

Fingers crossed that this will be the 1st step in helping Diyanna to overcome her suffering and have a normal a life as possible.

For those who are interested here is the summary of the research. I will upload the full article with a summary of Diyanna’s variant as soon as I get it.

Thank you for all your support and prayers. Please keep following our posts as we try and get Diyanna to phase one which is seizure freedom.