Bertrand Might
Bertrand Might was born in 2007, a seemingly healthy little boy. But soon his parents noticed that all was not well, as Bertrand began to show slowed development and lack of motor control. They also noticed that when their baby cried, he shed no tears (a disorder known as alacrima).
Bertrand’s list of symptoms grew to include leukodystrophy, intractable multifocal epilepsy, peripheral neuropathy, liver fibrosis, gastroesophageal reflux disease, osteopenia, cortical visual impairment, and movement disorder.
After four long years of frustration, fear, and incorrect diagnoses, they had a portion of Bertrand’s genome sequenced. They discovered that their son had inherited two different mutations in the same gene—the NGLY1 gene—which encodes the enzyme N-glycanase 1. Thus, Bertrand’s body cannot make this enzyme. Bertrand is the only known person with this condition. His father traced this incredible journey in this blog post.
Why we research CDG
Bertrand’s parents learned that Hudson Freeze, Ph.D., at Sanford-Burnham is an expert on rare genetic diseases and a leading researcher in the field of glycobiology. This scientific field that studies how cells coat proteins with sugar molecules—the process that is malfunctioning in Bertrand’s cells. Dr. Freeze responded eagerly to their request for help in studying their son’s condition, but his already busy lab will require one more postdoctoral researcher, as well as additional funding to do the work necessary.
By donating to the Bertrand Might Research Research Fund, you will help Dr. Freeze’s lab unravel this unique and mysterious disease, now called N-Glycanase Disorder. You can help bring hope to Bertrand’s family and possibly prevent other families from experiencing this same tragic ordeal, just trying to understand what is happening to their child.
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