April 9, 2009

Abnormal EEG, Dr. Escolar and Leukodystrophies

Today, Bertrand had an EEG in the morning. The results were "abnormal." We'll learn more from Dr. Kurtzberg tomorrow.

After that, he had more blood drawn and urine collected for more genetic and metabolic testing.

Next, we met with Dr. Escolar. She said Bertrand is the most difficult case she's ever seen. She's an expert on neurodevelopment and has seen over 400 patients with leukodystrophies. (Lysosomal storage disorders are a member of the leukodystrophy family.) She believes he fits the profile of a leukodystrophy.

What was eerie was that she was telling us about symptoms Bertrand will "eventually have" that will preceed seizures. She said that children with leukodystrophies have tendency to drift into "staring episodes," where they stare into space for minutes on end. As the leukodystrophy progresses, these episodes begin to have seizures at their end. Bertrand began having these staring episodes a couple months ago. At the time, we thought it was a sign of deep, intense thought. Now we have to be on guard during these episodes, and keep a diary of them.

Fortunately, Dr. Escolar was able to describe why Bertrand is so sensitive to touch: he has peripheral neuropathy. Apparently, it's common in leukodystrophies. Even more fortunately, there's a treatment for it that should give Bertrand much higher quality of life: Neurontin. We've got him a prescription, and we look forward to trying it once we get home.

We left Dr. Escolar's office around five in the afternoon, with enough daylight left to see the enchanting Sarah Duke Gardens. The walk around the garden helped us clear our heads after an overwhelming day.


  1. Looks like these tests are close to a final diagnosis. Let's see what the Dr says tomorrow!
    I've been thinking about you all continuously!
    All my love!
    Titi Lili

  2. Hi, I'm Trish Knight, founder and president of The Stennis Foundation (a nonprofit org. committed to raising awareness of Leukodystrophies, and funds for Leukodystrophies research). We currently support research at Duke & Kennedy Krieger. I found you because I receive Google alerts to anything leukodystrophy-related. I'm sorry for all Bertrand is having to go through. Dr. K and Dr. Escolar are amazing, so I'm glad you are there. Sending many thoughts and prayers.