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.