[annie laurie]

To test or not to test . . . it's a terrible dilemma.

Indeed.

I wonder if modern medicine can to some extent mask the early symptoms . . . that might delay a diagnosis, except in retrospect.

There are some medications in use currently, but they're not particularly effective (at least not in the case I know).

I wouldn't wish this horrible disease on my very worst enemy.

Ditto. Here's hoping that this research will speed the way toward a cure, or at least a treatment which can slow the progress of the disease.

[AnAmericanMother]

Amen.

You think nothing could possibly be more dreadful than a deadly genetic disease in an infant or child . . . then you think of this.

I am sorry for your friend, and I will pray for him.