Making A Push..June 7

Since Claire has been at Doernbecher’s, she had a possible diagnosis of Tuberous Sclerosis with 50,000 cases in the US, Pyridoxine Deficiency with 100 cases in the US, and now possibly a disorder that has had only 36 diagnoses in the last 40 years.

Shelly came on Saturday to visit us (Thank you!). During her conversation, Rebecca mentioned that I had observed a correlation between Claire's BMs and her seizure activity. This was something I had not thought about in a few weeks. But the mention of it sparked an idea and did some reading.

There is a very rare disorder called Abdominal Epilepsy. It is well known that the Vagus nerve is tied to some types of Epilepsy. The Vagus nerve is also the primary neural pathway transmitting signals from the abdomen to the brain. It is my belief that pains generated in Claire's tummy may be causing at least some of Claire's seizures.

There is good and bad news with this. The bad news is that it would mean at least half the treatments Doctors have prescribed for Claire are not appropriate for this kind of Epilepsy. Doctors will be resistant to admitting that a good portion of her care may have lent to a decline in Claire's overall health. For example, the Ketogenic Diet, which has a high rate of success with most Epileptics, is utterly inappropriate for someone with Abdominal Epilepsy. Imagine having constant tummy cramps and the only food you could eat is sticks of butter. A high fiber diet is more appropriate.

The good news is that if we can confirm this as the diagnosis, her treatment may simplify considerably. Drugs with side effects including stomach pains will be removed. The Ketogenic diet will be supplanted with a high fiber diet. Relatively safe drugs such as Phenobarbital and Keppra will remain as her maintenance anticonvulsants.

Our challenge now is to convince doctors that they need to adapt their treatment. Although we can pull "Patient Rights" we want to be careful not to damage our relationships with her doctors. We were able to convince them to add a laxative in order to regulate Claire's BMs. After some interesting results, I want to take the next step and get her off the Ketogenic Diet. I may have to flex some muscle to get this done.

Added to the mix, the weekend attending physician added Folenic Acid as an adjunct to Claire's Pyridoxine treatment--some cases have shown this to improve conditions for Vitamin deficient patients. Claire had another EEG today. Fortunately it was nice and short.

I hope you get the sense that Rebecca and I are not sitting idly waiting for Doctor's to get this right. We want our baby home and soon. Pray for our strength. Pray for Claire.