Thank you! Your information was very enlightening to myself and my daughter. We will continue to work on her quality of life as being one that is rich and rewarding in her choices.
Dear Faith:
I am sorry to hear about your daughter's epilepsy. The range of onset of JME is 8-30 years of age with most patients begin having the epilepsy begin between 12-18 years of age. The seizure activity is usually worse upon awakening, some people have their myoclonic jerks and these are brief while others have generalized tonic/clonic with theirs. Seizure activity can be made worse by alcohol, fatigue, lack of sleep, and some with flashing lights. Each patient is different. Usually, the seizures are well controlled with valproate but some are not. Zonegran is a good second choice, as well as lamictal, Keppra, or topiramide. The seizures are usually life long, and most of our patients do not have dementia, but are high functioning or normal. Although a chromosomal defect has been found on chromosome 6, the actual gene has not been fully elucidated and there is no family history of epilepsy in approximately 50% of patients. I think this means that although there is a genetic component, many patients will be the first in their family to have the disease as they represent a new mutation or there are environmental influences that may play a part in the disease (or both).
I cannot tell you why this took so long to properly diagnose. As far as you moving closer to your daughter, that is a decision you'll have to make. Since fatigue, lack of sleep, will worsen the seizure activity being a single mother with two children will play a part in her epilepsy. Help with the children and the daily part of living would lessen those factors for your daughter.
I do hope that the new medication will help with seizure control.
I hope I have answered some of your questions.
Sincerely,
CCF Neuro MD