Doctors Chased a Skin Disorder for Three Years Before Genome Sequencing Pointed at Her Kidneys
Her dermatologist noticed the freckling under both arms first. Combined with more than 10 café au lait macules scattered across her arms and legs, at least 10 of them measuring 15 millimeters or more, the picture pointed in one direction. Those two findings sit inside the formal diagnostic criteria for neurofibromatosis type 1. She was…