January 10, 2011

Cleveland Clinic Wrap-Up

Bertrand coming out of general anesthesia, post-MRI.

Bertrand was transferred from the Pediatric Intensive Care Unit Thursday afternoon and discharged from the Pediatric Epilepsy Monitoring Unit late that night. He is fully recovered from his urinary tract infection and almost fully recovered from his hectic 4-day hospital stay. (A restful sleep in a comfortable bed can do wonders!)

As expected, we came away with no answers, diagnosis or prognosis, BUT a treatment plan has been put into place! While in some ways we learned little from our time at Cleveland Clinic, in many ways we learned a LOT--starting with the importance of proper EEGs, serum medication level monitoring, medical team communication and attention to detail.

Bertrand was asked to return for follow-up in 6-12 months. We'll aim for sometime between August and October at the latest. (Can you tell we've been scarred by all the winter flight delays, cancellations, and reroutings?! Matthew, who was supposed to arrive early yesterday evening, is currently stuck in Phoenix!)

Bertrand was seen by experts in epilepsy, neurogenetic/metabolic conditions and movement disorders. He had an MRI, an MR Spectroscopy, over 3 days of EEG monitoring, and blood work.

The preliminary reading of Bertrand's MRI stated that it was unchanged from his December 2009 MRI. The myelination of his brain white matter has neither improved nor worsened.

According to the EEG, Bertrand's main seizure type is myoclonus. He has them in clusters awake and many in his sleep. Many of his atonic episodes were actually large myoclonus. His random laughter is not a gelastic seizure, but rather a reaction post-seizure because it feels good somehow.

Most of Bertrand's abnormal movements are in fact a movement disorder. They are called stereotypies: repetitive or ritualistic movement, posture, or utterance, found in people with mental retardation, autism spectrum disorders, tardive dyskinesia and stereotypic movement disorder.

A few drugs could help a little with the movements, but they wouldn't eliminate the movements entirely. The same drugs also greatly reduce seizure threshold, which is why they should be approached with caution.

Since seizures prove the greater hurdle for development and learning, over the next few months, Bertrand's current drug & diet regimen will be optimized for maximum seizure control and minimum side-effects. This means frequent blood draws to check serum medication and liver function levels.

Speaking of liver function, Bertrand's AST was 83 and ALT was 98. These values are still elevated slightly but FAR lower than the 600s at which they once were! We're not sure if this is simply part of their downward trend (like his AFP), the result of his ursodiol/actigall regimen, or the result of his stem cell infusion last August.

This makes the ideal medication for Bertrand's seizures a combination of lamictal and depakote (valproic acid), or perhaps even just lamictal or depakote. Bertrand was just raised to 100mg daily of lamictal and will need his serum levels drawn for that. We need to keep tracking his seizures.

In the meantime, we will proceed with a zonegran wean, then a keppra wean and then a ketogenic diet wean (or vice versa). All three treatments caused severe sleepiness, reflux, constipation issues, elevated heart rate, bone density loss, and possible kidney stones. He may be able to drop his prevacid (for reflux but causes bone density loss) and miralax along with these.

(I can't even begin to imagine what it would be like! 2 medications instead of 6 plus countless supplements?! Bertrand being able to eat a cupcake at his own birthday?! Without seizing?! It sounds like a pipe dream, but hey, we'll give it a whirl!)

From a testing standpoint, the neurogeneticist seemed pretty impressed with all the testing done so far. For glycogen storage diseases, Bertrand's testing to date had been for carbohydrate deficiency transferase & oligosaccharides--markers for those diseases. While these markers had come back negative repeatedly over the past 2+ years, a new genetic panel for this family of diseases had come out--all 30 can be tested quickly and cheaply--so this was sent out to be done.

Two more X-linked diseases, CDLK5 (another form of Rett Syndrome) & ARX, were put on the table, but since these will be covered by the genome sequencing being done by Duke University (results due late this month or next), these tests were held off on.

We'll stay in touch with the team at Cleveland Clinic while we implement Bertrand's seizure treatment changes. And, when we return in a few months, they'll be able to address more of the movement disorder and neuropathy/demyelenation aspects of his condition. (He'll see FOUR neurologists at Cleveland next time!)


  1. Sincere sympathy for Matthew being stuck. Thank you for the synopsis - I know it is more for your family and documentation, but I'm among those out-there on the internet who follow your family and care about Bertrand.

    "the importance of proper EEGs, serum medication level monitoring, medical team communication and attention to detail"

    I'd work for that kind of medical care.

    Does he have blood draws so often that a port would be helpful? Downsides to that, too, of course.

    Can't wait to read about his first day at school. That first day of leaving him at school - we all relate to that feeling!

  2. let me know when you are scheduling to go, will try to make ours the same time so we can meet. You need to see dr. natowicz too, he is the geneticist there and his intelligence amazes me

  3. wow! sounds like you had a very busy week :) I am so glad you guys were able to go there and get things checked out...you guys are so awesome and you guys are always in my prayers :)

    by the way, Cole also laughs randomly and laughs after he has a drop seizure as well. It makes me wonder what they feel like.

  4. So happy for you guys! It seems like you got more answers / paths this time than ever before. Give B a big hug from us.

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