Saturday, August 2, 2008


Jeans for Genes is a major fundraiser of the CMRI (Children's Medical Research Institute) in NSW, Australia. Jeans for Genes Day is held on the first Friday in August each year. It is a day where everyone can wear jeans and simply make a donation or buy a badge whilst supporting a great cause in helping today's scientist for tomorrow's children.

Chances are you probably know someone who has a genetic disease because one in twenty children are born with some form of genetic fault. This prompted me to wonder if I have some form of genetic fault that resulted in me being epileptic.

On a recent trip to my neurologist's clinic I was made known of GEFS+ which stands for Generalised Epilepsy with Febrile Seizure plus. GEFS+ is an unusual epilepsy syndrome in that it describes families who have several members from different generations with epileptic seizures.

In family members with epileptic seizures they almost start with febrile convulsions (seizures associated with high temperature). Normally febrile convulsions stop after the age of six. In GEFS+ families, children may go on to have febrile seizures well beyond this age group or develop other seizure types not associated with fever. Some people with GEFS+ are found to have a specific fault in their genes. This may provide some clues to the genetic basis of some forms of epilepsy.

My mum's family has three generations of people with epilepsy. My aunty (mum's sister) was epileptic. My brother had febrile seizure which he had outgrown. I had febrile seizure which stopped at the age of 7 but started having tonic clonic seizures at the age of 18. My cousins and my niece had febrile seizure which they all have outgrown.

Do you have epilepsy and also come from a family with generations of people having epilepsy? If yes, you might want to consult a neurologist or epitologist to enquire more about having a DNA test done.


No comments:

Post a Comment

Please write your comments here