Bad news

Bertrand's oligosaccharide screen and then test came back positive, indicating a glycoprotein storage disease. Glycoprotein storage disease, or more generally, lysosomal storage disease, is actually a family of inherited (double recessive), genetic diseases. Any child Cristina and I have would have a 25% chance of acquiring this disease. We don't know which one he has yet, but the differences between them matter more to biochemists than to patients: all are progressive, largely untreatable, incurable and fatal.

In short, every cell in Bertrand's body (all 25 trillion or so) has a defective metabolism. As his cells metabolize, they are failing to fully recycle molecular waste, due to a missing enzyme. In this case, it's some kind of yet-to-be-determined sugar that he's not recycling. Over time, this waste accumulates in the cells and destroys them.

We don't know how long he has, but some searching indicates he may live to three years or just beyond. We'll know more once we complete the next round of tests, and once we finish consulting with the rest of his physicians. We are holding on to what little hope is left, but it seems that the window for miracles is about to close.

Of course, we will do everything possible for him. And, if that fails, we'll try the impossible.