Test Results, October 13

Knock on wood, this actually looks like a short stay in Doernbecher's. Claire has had relatively few seizures over the past 24 hours. It is difficult to say whether this is due to a Phenobarbital loading dose or due her Phenytoin level dropping rapidly. At any rate, she has been able to eat by mouth and has had some rare awake time.

This morning, Dr. Roberts (the primary Epileptologist) came in and informed us of test results from the muscle and liver biopsies. Claire has what is called a Mitochondria Complex III Disorder. This will likely end up leading to a diagnosis in the Mitochondrial Myopathies family of diseases. You may find some helpful information on www.mitoaction.org. Rebecca and I see this as a positive development. Mitochondrial Disorders are treatable with what's called a Mito-Cocktail--a highly concentrated mix of vitamins, proteins, and antioxidants. The Metabolic team is currently working on formulating Claire's Mito-Cocktail. There is no certainty that this will impact Claire's Epilepsy. We have to operate under the assumption that we will still have to manage her with anti-convulsants.

We have weaned Claire off of Phenobarbital and have now dropped Phenytoin as well. This will allow us to use these drugs as back-up rescue meds when Claire's seizures get out of control as they did on Monday. We are adding a new drug called Vimpat. This is a newer drug that has fewer side-effects than some of the drugs that Claire has already been on. It is not approved for children, but that is not unusual in drugs used to treat rare diseases.

So long as the Metabolic Department is timely with their Mito-Cocktail and there are no complications from adjusting Claire's meds, we expect to be released on Friday. Please continue your prayers for Claire--that she responds well to the new treatments and begins the process of healing and developing as she should.

Jake