I found my son's killer. It took three years. But we did it. 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 genethe NGLY1 genewhich 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. (An open access article in The Journal of Medical Genetics contains the detailed results from ground-breaking experiment that diagnosed him.)

Aside from severe jaundice, Bertrand was normal at birth. For two months, he developed normally. At three months, his development had slowed, but it was "within normal variations." By six months, he had little to no motor control. He seemed, as we described it, "jiggly." Something was wrong.

Bertrand was eight months old when he met with his developmental pediatrician for the first timejust after our move to Utah. I was at my first faculty retreat on the day of his exam, and after it let out, I found a flood of voicemail and text messages from my wife.

My heart jumped. The pediatrician thought Bertrand had brain damage, so she scheduled an MRI for the following week.

The MRI showed an apparently healthy, normal brain. So, his case was escalated to a pediatric neurologist. The neurologist confirmed that he had a movement disorder, but his presentation was "puzzling": he had neither characteristic chorea nor ataxia.

The neurologist ordered a round of bloodwork. This was the first of dozens of blood draws to come. (We now send Bertrand's "favorite" phlebotomists holiday cards.)

The lab results reported only one anomaly: extremely elevated alpha-fetoprotein (AFP) relative to what it should have been for his age.

Excerpt from:
Hunting Down My Son's Killer [Medicine]