March 17, 2009

Some Days Are Better Than Others

I am proud that Matthew posted yesterday, because I could barely breathe much less think clearly enough to write. Now, on a beautiful spring day and with a bit of sleep, I can say, "Hey! At least it is not mitochondrial!" The general impression we are receiving from our specialists at the University of Utah is that Bertrand is too old for the cord blood transplant. As parents, we still HAVE to see if that's an viable option--it would be his best chance for long term survival.

Perhaps it is naive, but we believe that as long as we can stop the damage (partcularly brain damage) in its tracks and get his body to start producing its own enzymes, maybe stem cell therapies can repair some of his brain damage in the near future. Bertrand needs to live long enough for that to even be possible.

There is a company called Aldagen now making stem cell treatments to help repopulate the cells for children with inherited metabolic diseases. There is currently a clinical trial accepting patients up to age 16, but we need a diagnosis first. (A clinical trial would be nice since they may cover some of our travel and related expenses.) This Aldagen therapy could potentially help kids with the following:
  • Hurler Syndrome (MPS I)
  • Hurler-Scheie Syndrome
  • Hunter Syndrome (MPS II)
  • Sanfilippo Syndrome (MPS III)
  • Maroteau-Lamy Syndrome (MPS VI)
  • Krabbe Disease (Globoid Leukodystrophy)
  • Metachromatic Leukodystrophy (MLD)
  • Adrenoleukodystrophy ALD and AMN)
  • Sandhoff Disease
  • Tay Sachs Disease
  • Pelizaeus Merzbacher (PMD)
  • Neiman-Pick Disease
  • Alpha-mannosidosis

To help with diagnosis Bertrand got more labs done today. At the University of Utah laboratory he is getting the following tests:
  • Biotinidase enzyme (retest)
  • Uric acid
  • Prolactin
  • Ceruloplasmin
  • Copper
At the Baylor College of Medicine laboratory he is getting the following tests:
  • Fucosidosis
  • Krabbe Disease
  • Mannosidase Deficiency
  • Tay-Sachs Disease & Sandhoff Disease
His doctors seemed to think it would be better to have the tests sent to Baylor over Mayo this time due to better controls and increased specificity. (Mayo botched the thin layer chromatography on the last oligosaccharide test.)

So at the UofU lab today, they drew a LOT of blood (stuck him in both arms since he clots so quickly), and then called us at home to come back. They hadn't drawn enough blood! So we went back and they had to draw from his hand. It was a *rough* morning.

Even though time in a lab is not the most cinematic, it has been such a large part of Bertrand's life, we had to capture it somehow. We were able to capture part of the blood draw on our new, fabulous VIDEO CAMERA! An early Mother's Day gift from my father, and I couldn't be happier! We've gone a little camera crazy today--taping everything. :)

Our day has also been filled with making preparations. One of our dog's, Mr. Wang, will be leaving this Friday to stay with my mother in Kentucky. This is in preparation for our travel to North Carolina and Bertrand's potential transplant recovery. (We're being hopeful.) Our other dog, Penny, will likely stay with a neighbor or my in-laws.

We're waiting to hear back from: (a) Samson-Fang on a quicker MRI, (b) our case manager at Blue Cross Blue Shield on out-of-state approval, and (c) Kurtzberg on getting a work-up at Duke.

1 comment :

  1. Kiki:
    Thanks for the prompt update! I was looking to hear from the tests work today!

    Let's look forward to Duke!

    Love y muchos besos a todos!

    Titi Lili