June 18, 2010

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.


  1. I know that *I* certainly try not to think about it, even though you've said, multiple times, that Bertrand will live a short life. I've so enjoyed watching him progress, learn to laugh, cry tears, play with his toys. Dear, precious B!

  2. I am so very sorry. I wish there was something to say that would help, or that we could at least come over to say it in person. Love from Seattle.

  3. My heart is breaking for you guys who have gone through so much and loved so much more. This should never have to happen. Ever. I know this link is a bandaid but maybe it will be a yummy help to give his liver a chance to heal. http://www.hindustantimes.com/Blueberries-are-good-for-your-liver/Article1-560038.aspx

  4. You three make an incredible family. For sure Bertrand's had some rough days, but as parents you've gone above and beyond to give him plenty of awesome days. Bertrand's lucky to have you two, the rest of your family, friends, and medical staff fighting for him. Take care.

  5. I am just another one of the online community who cares for your family and will say prayers for you.

    How blessed Bertrand is to have a family who loves him so much.


  6. Oh precious Little Boy ! Wishing you happy days ahead full of love. Keeping you all in our thoughts and prayers..

  7. we send our love and hugs to you all

  8. Love you Cristina. Do you want a visitor or do you want more time?

  9. I am so sorry! Bertrand is a very lucky boy that he has both of you for loving parents!

  10. Hi Christina, Matt, and Bertrand,

    We haven't posted comments before, but I wanted to let you know that Julie and I have been following the blog since your original diagnosis. You have been in our thoughts and prayers daily. Your strength and courage through this whole process has been incredible to see.

    We will continue to hold you in our thoughts and prayers through this particularly difficult time.

  11. You guys AMAZE me. I can't even begin to understand how you feel. My heart goes out to your family. Bertrand's life might be short lived...but I can TELL he has SO many people that LOVE him and your family has been an example to more people then you'll EVER know. Bertrand is so lucky to have wonderful parents like you and matt. XOXO