title: What happens when N = 1 and you want plus 1?
abstract: We present a personal case study of what happens when a family has a child with an undiagnosed genetic disorder yet wishes to have more children free of the disease. After an intractable diagnostic odyssey for our oldest son, our family turned to exome sequencing. Exome sequencing found likely pathogenic variants of uncertain significance in the gene NGLY1. We used social media to uncover more cases for the newly discovered disorder and confirm the diagnosis in the process. With a diagnosis, we then explored and experienced a broad range of options for conceiving a child free of the disorder. Our success in having another child free of the disorder created a pathway for other families in our newly discovered disease community to do the same. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.|School of Computing, University of Utah, Salt Lake City, UT, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Might
authors.affiliation: NGLY1 Foundation, Salt Lake City, UT, USA.
authors.forename: Cristina Casanova
authors.initials: CC
authors.lastname: Might
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Q000235:genetics*; D011296:Prenatal Diagnosis; D027724:Reproductive Techniques, Assisted
chemical_list: C000622771:NGLY1 protein, human; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase