Looking for advice - Juvenille Absence Epilepsy & genetic testing.

[dking290403]

My 13 year old daughter was diagnosed with Juvenille Absence Epilespy 2 years ago (she had previously suffered with Childhood absence Epilespy and had been seizure fee and weaned from medication), unfortunately this time her epilepsy has been difficult to control, she has been on various AED's and she is now being weaned onto her 5th (Lamotagrine). She was reasonably stable on Sodium valproate for about 9 months following a status seizure in Nov 2015, but is now being weaned off that too as she's been experiencing headaches and hearing loss.

As part of the process her consultant has asked for a MRI and genetic tests to be carried out. She had blood taken yesterday to check her ammonia and lactate levels, and to find out whether she has a mitochondrial disorder.

We don't know what to expect and are getting concerned about what the results might reveal!

In other respects she's doing well, she's in year 9 at high school and is enjoying taking part in activities with her friends...she's a positive young lady and tries very hard not to let her condition get her down, but this has kind of taken us back as she's been doing quite well and was seizure free for almost 7 months!

Has anyone experienced this kind of testing and able to provide some advice without scaring us witless!

Thanks very much for taking the time to read this post.

[AmyBadd]

Hi,

I don't have any experience but I am interested to hear what comes out of this. I have JME. I am 30 and have been having seizures since I was 14. It is now fairly well controlled and until a couple of years ago I actually was seizure free for 7 years.

I have never heard of JME being caused by a mitochondrial disorder, but I would love to hear what the results are. Hopefully, whatever they find, it will help them to treat your daughter.

All the best,

Amy

[dking290403]

Many thanks Amy, as soon as we have received her results I will update you.

Debbie