What is this?

[bbug]

I have an eight year old daughter who is affected by Ataxia, Myoclonic Jerks, No Balance, No control of eye movement, Seizures and low muscle tone.

It all became very evident after she turned one year old, she had not walked yet but was cruising furniture.
It started with the loss of control to move her eyes at about 15 months of age, as time passed the Ataxia started to show itself, Then at about 2 1/2 yrs old I started seeing absense seizures (very mild and hardly noticeable) During this time she was still unable to stand unsupported due to lack of balance. At 4 yrs old I started seeing shutters go through her when a camera would flash or lights were turned on in a dark room, these progresses into countious and were diagnosed as myoclonic jerks. At 6 yrs old the gran-mal seizures started and she would have atleast one a week. Her seizures are under control now, partically by medicine, but  I have found that all her seizure like activity is brought on by stress (fear) or excitement and I can remove her from that cause andn talk her right through them. She will recover within less than 2 minutes and within 5 minutes you would never knew it even happend, she has no lasting effects or memory loss, she may be a bit weak and shakey for a bit but no other effects.

We have seen neurologist at Helen DeVos in Grand Rapids Mi and neurologist at Childrens Hospital in Detroit Mi.
Every test comes back normal and all scan show no irregularities (MRI, CAT, PET-FDG, EMG, EEG, EKG)
We have seen Genesists at both hospitals also and noone can put a finger on whats going on.

My daughter has taken many different meds in the past in trying to control these seizure like episodes. (Zonisamide, Lamictol, Topiramate, Clobazam)

She currently takes Keppra (2500mg daily) Valproic Acid (750mg daily) Levocarnitine(1980mg daily) Klonipin(2.5mg daily) we use 1mg ativan tablets to help relax when needed and have diastat 7.5mg

My question is , what do you think?
I am finding that even a simple trip to the grocery store is to much excitement for my daughter, she is happy and enjoys life. She just gets so excited in a happy way withn anything we do that she is almost daily having these episodes.

I am wondering if we are using the right meds, or if there might be something better out there to help her relax more without compermising her. Also any ideas on diagnosis?                             thanks   Brenda

[theasian]

Hi

I really feel sorry for your daughter. How does she survive with all that medication coursing through her body? I got my keppra dose up to 2000mg a day and I couldn't handle the side effects. With the valproic acid, I was taking 1400mg a day before it became toxic for my body. Side effects of anti-epileptics really are not cool.

Anyways, to answer your question. I'm no doctor, this is all just info that I've come across in my search for answers. Are her symptoms by any chance worse in the mornings than the rest of the day? If the answer is yes, she might have juvenile myoclonic epilepsy. It usually only starts in puberty but there are always exceptions when it comes to medicine.

Another alternative is progressive myoclonic epilepsy which seem to fit her symptoms a bit more. There are 6 different PMEs each with their own defining symptoms but they all have certain symptoms in common which include generalised seizures (previously known as grand mal), myoclonic seizures, ataxia and progressive dementia.

Researching on the internet is gonna be a bit intimidating, especially when you read about PME as some are fatal within a number of years. But before you stress, discuss it with her neurologist and see what he thinks.

Take care

[theasian]

Hi

I really feel sorry for your daughter. How does she survive with all that medication coursing through her body? I got my keppra dose up to 2000mg a day and I couldn't handle the side effects. With the valproic acid, I was taking 1400mg a day before it became toxic for my body. Side effects of anti-epileptics really are not cool.

Anyways, to answer your question. I'm no doctor, this is all just info that I've come across in my search for answers. Are her symptoms by any chance worse in the mornings than the rest of the day? If the answer is yes, she might have juvenile myoclonic epilepsy. It usually only starts in puberty but there are always exceptions when it comes to medicine.

Another alternative is progressive myoclonic epilepsy which seem to fit her symptoms a bit more. There are 6 different PMEs each with their own defining symptoms but they all have certain symptoms in common which include generalised seizures (previously known as grand mal), myoclonic seizures, ataxia and progressive dementia.

Researching on the internet is gonna be a bit intimidating, especially when you read about PME as some are fatal within a number of years. But before you stress, discuss it with her neurologist and see what he thinks.

Take care