Bertand is going to die (again)

With all the progress we've made in the past year in treating Bertrand's symptoms, in making him a happier child, I think it's been easy to lose sight of the fact that his condition is still fatal.

We were told back in April of 2009 that whatever he has would take his life.

They told us that his organs would slowly accumulate damage from the unprocessed cellular waste. They couldn't say which ones would fail first, but the nervous system and the liver were the likeliest candidates.

But, back in April of 2009, Bertrand's primary symptoms were developmental delays.

He seemed stout and healthy--not a child ready to perish any time soon.

It wasn't until December of 2009 that we found hard evidence that his condition would eventually kill him--an ongoing loss of white matter in the brain consistent with the predicted inborn error of cellular metabolism.

Now we've found more evidence: his liver is also accumulating damage; it already has fibrosis and it will eventually go into cirrhosis and fail.

So, Bertrand is going to die, again.

Strangely, getting a second death sentence feels as awful as the first.

With just white matter loss, we could delude ourselves with sci-fi medicine--stem cells, genomic sequencing, gene therapy; we could hope so strong that we believed that we'd be able to somehow, someday stop and reverse the brain damage.

With the liver failure, we have a second impossible feat on our plate, which suddenly makes the original one feel all the more impossible.

And, instead of waiting for his brain to fail, it's now a race between brain and liver.

Based on what we've just learned in cardiology, it may even become a three-way race between brain, liver and heart.

The bottom line is that Bertrand's life expectancy, short as it already was, is now even shorter.

Yet, once the shock of this diagnosis wears off, the way forward remains the same: focus on what we can do, enjoy and love Bertrand as much we possibly can, and keep him as happy as he can be.