October 1, 2010

Falling down

Bertrand took a tumble out of his high-chair and landed in the ER.

This lead to the world's strangest conversation:

Physician: "The CAT scan shows significantly enlarged ventricles, indicating brain damage."

Us: "OK, but what about his bones? Are there any breaks?"

Physician: "Um, his bones are fine."

In 30 years of emergency medicine, the ER doc had never seen a calmer response to the announcement of brain damage.

In more detail, the fall didn't cause the enlarged ventricles.

Actually, beyond bumps and bruises and panicked parents, the fall didn't do anything.

His ventricles (empty space in the brain) began enlarging as his white matter started disappearing about two years ago.

Unfortunately, they appear to be significantly enlarged from his last MRI in December.

Hopefully, with this new data point, we can start to measure life expectancy.

There are a few wildcards in the mix--like the stem cells and the steroids and the ACTH--but it appears we're not winning the war.

We'd been getting optimistic as of late.

We recently turned the tide on his liver damage. The ACTH stopped his seizures for almost two months, giving us a brief and unforgettable snapshot of a happy, loving baby boy.

But, it seems he's still losing white matter.

Clinically, this is consistent with our current hypothesis: male Rett syndrome from somatic mosaicism caused by a de novo mutation. (Somatic mosaicism means part of him is normal, part of him is a mutant; de novo means neither Cristina nor I are a carrier--it's a mutation unique to him.)

His next MRI will be more conclusive about the effects of our efforts, but today was a sober reminder that the clock is ticking.


  1. Poor bug - I'm really sorry to hear that. We'll be praying for him.

  2. That's a pretty funny story about the reaction to the MRI news. I wish I could say something comforting. I'm thinking of all of you.

  3. I think the Somatic mosaicism is what is making the diagnosis so difficult to take. There a glimpses and snapshots of Bertrand as he should be shining through. I keep seeing Ava in moments pure perfectness and I want to snatch that girl out of the mess of the rest. I'm sorry.

  4. I know y'all are checking everything, but I was hoping this might mean a ventricle-plumbing problem - of the fixable variety.

    Glad that he no serious injury from the fall. Maybe the reason for it was to show you that MRI? (Being all philosophical here.) Switch to spiritual - still praying for Bertrand.


  5. I'm glad that the fall didn't hurt B, but oh <3, I'm sorry to hear about his white matter disappearing. My thoughts are with you guys!

  6. Have you heard of the Clinic for Special Children in Strasburg, PA? They study and treat rare genetic disorders in the Amish and Mennonite populations. This is not to suggest your doctors are not awesome, but these guys might be able to find the name of the genetic cause.
    Best of luck to you all--