In the previous series of posts, I’ve highlighted the clinical value gained from the first molecular diagnosis of a disease (part 1) and the increasing value as more cases come to light (part 2, part 3). But parents of rare disease sufferers have also found great emotional value in discovering their child, a rare disease sufferer, is not alone.
In the previous post, I shared the riveting case of Bertrand Might, as the first known sufferer from a disease due to mutations in the NGLY1 gene, and how his father’s blog helped a researcher at Baylor, Matthew Bainbridge, realize that NGLY1 mutations were giving rise to his patient’s condition as well [1,2].
First you have to get to N-of-one
In the New Yorker article, “One of a Kind: What do you do if your child has a condition that is new to science?”, Seth Mnookin chronicles the life of the Mights family whose first son, Bertrand, was born in 2007 with a condition that evaded diagnosis until he was tested with clinical exome sequencing in 2012. Bertrand suffered from a disorder that left him with limited mobility, seizures and an inability to speak, among many other symptoms. The article describes the family’s odyssey - diagnostic odyssey and beyond - as a sufferer of a rare disease. At initial diagnosis, Bertrand appeared to be the first known individual whose disease was due to a mutation in the NGLY1 gene that codes for a de-glycosylation enzyme, resulting in barely detectable levels of the protein.