Terrible News!

First Olivia is not doing well today and for the past few days. She has been terribly twitchy and we are not sure why. It started out with her complaining of pain in her foot. We are not sure if she twisted it wrong or if it's neurological pain. This afternoon her twitching became much worse and we knew we had to take her in to the hospital. We called the neurologist to try and get a direct admit rather than going in through the ER. I knew something was up when our neurologist called us back instead of the on call neurologist.

Olivia has tested positive for a terrible genetic disorder called POLG1 or Alpers' Disease. Most of the children do not live past age 10. It's a very progressive and degenerative disease. We are also worried because she has been complaining with her last few flare-ups of not being able to see and blindness is one of the possible effects of this disease. We are just so upset and sad for her.

We also found out that she apparently has some sort of a defect in her mitochondria that they have never seen before. As in EVER. No one else in the world has it because they have never seen that mutation before. I'm not sure yet what all of that means.

We could use prayers for Olivia and for our family tonight. She is at Helen Devos Children's Hospital. They are starting phenobarbital to try and stop the twitching/seizure activity.
I will keep you updated as we know anything.

There is a link about her disease here.

A new diagnosis...

We have more upsetting news. Our neurologist informed us that they have come up with a new diagnosis for Olivia. It's called "progressive myoclonic epilepsy" or PME. Her mitochondrial problems fall under it. It's very disturbing news as it causes patients to decline mentally and physically. It can move really fast or at a slower pace depending on the patient, but there is no way to tell. Here is a link with more information.