December 24, 2009

End of Year Medical Marathon

Tuesday and Wednesday of this week became an end of year medical marathon for Bertrand. For a variety of reasons, not the least of which because our insurance deductible is met through December 31st, several of Bertrand's procedures were shoehorned into last minute holiday cancellations. Things went about as smoothly as one could hope for, and the preliminary results are very good!

Sleep Study
Results in 2-3 weeks.

Results in 1-2 weeks.

MRI & MR Spec
Results next week.

Results same day: normal! Rules out Batten's disease (CLN3) and the other CLNs.

Donnell Creel, Ph.D, was the doctor who administered Bertrand's VER and ERG, and all I can say is that both Matthew and I are in love with Dr. Creel! Having a Ph.D rather than an M.D. was refreshing. Dr. C has a great sense of humor and he even gave us a mini-tutorial on electrophysiology! It was awesome! I wish more doctors would encourage such learning in their patients and patient's parents.


Unfortunately, in spite of being stuck SEVEN times, Bertrand's blood draws were unsuccessful. We will have to go next week to deliver a urine sample and draw blood samples for Dr. Longo.


  1. Hey, I remember Dr. Creel! He was the one who had to get a wired-up contact lens into Daniel's eye when he was two months old to test him for achromatopsia. He was fantastic, so much fun to talk to. It's a small world - I mean, hospital :)

    Many congratulations to Bertrand in getting all of that in before the end of the year - it sounds positively exhausting for all of you. I'm sure he'll have a great time relaxing tomorrow :). Merry Christmas!

  2. Merry Christmas Cristina, Matt, and Bertrand!!! You are all in my thoughts everyday. I hope that the new year will bring many many wonderful adventures for Bertrand and your entire family.