Hunting down my son's killer.

I found my son's killer.

It took three years.

But we did it.

Not quite like this.

I should clarify one point: my son is very much alive.

Yet, my wife Cristina and I have been found responsible for his death.

My son Bertrand has a new genetic disorder.

Patient 0.

To find it, a team of scientists at Duke University used whole-exome sequencing (a protein-focused variant of whole-genome sequencing) on me, my wife and my son.

We discovered that my son inherited two different (thus-far-unique) mutations in the same gene--the NGLY1 gene--which encodes the enzyme N-glycanase 1. Consequently, he cannot make this enzyme.

My son is the only human being known to lack this enzyme.

Below, I'm documenting our journey to the unlikeliest of diagnoses.

This is a story about the kind of hope that only science can provide.

Read on...