August 23, 2013

2nd Living NGLY1 Male

Early this week we had a skype chat with the family of the 2nd living boy with N-glycanase deficiency.    (In case you're keeping count, that is known NGLY1 case #10.)

Yes: I finally got to see and interact with another NGLY1 child!  Oh, my heart!  He is so beautiful and dear, and his mannerisms are so similar to Bertrand's!

The experience was *profound*  ...and a bit bittersweet.  While I am overjoyed to find even more families who can relate (and his parents are amazing!), it breaks my heart that other children are facing the same struggles as our Bertrand.

Seeing that sweet boy put things in perspective.  We are fighting for more than just Bertrand.

As both my kids start school, I will start work--for all kids with N-glycanase deficiency.

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