Is your child undiagnosed?

8-month-old baby Bertrand ~ Extreme cuteness may also be a symptom.

Bertrand is a little boy, near and dear to my heart – so much so that his mom and I arranged he and Hannah’s marriage at our visit to the NIH.  Please, if you know anyone that can help or fits this description, contact Cristina.


Since the identification of Bertrand’s NGLY1 mutations, researchers are hoping to find/test previously undiagnosed children for the same condition.

potential N-glycanase enzyme treatment has been identified.

I need help finding undiagnosed kids fitting this profile. Matching kids may be eligible to receive a test for this newly discovered genetic (NGLY1) disorder.

The salient features are:

  • Developmental delays
  • Involuntary movements starting in infancy
  • Liver dysfunction detected in infancy- elevated transminases and AFP, all normalized at this time
  • Myoclonic seizures starting in infancy
  • Lack of tears
The presentation of kids with NGLY1 mutations may vary with severity.  Both Bertrand’s mutations are located toward the end of the gene, so his he may actually be one of less affected.

The undiagnosed children may have been extensively tested for congenital disorders of glycosylation and lysosomal storage disorders, returning normal results.

Thanks for any help you can provide!


  1. Thank you, Carrie! Fingers crossed. 🙂