Thank you for the opportunity to introduce you to a child adopted from an Chinese orphanage by an exceptional family in January 2018. Little was known about this 10 year old other than he had "something genetic" per the orphanage and weighed 16 pounds on his "gotcha day" to quote mother. Certainly to me he was an unknown, reminding me of progeria,: fortunately I have not seen kernicterus but this child reminded others who had. An MRI was obtained with no diagnosis other than white matter disease while the buccal swab was "incubating" at GeneDx. A lumbar puncture was the next diagnostic evaluation until I was able to share the diagnosis of Perlizaeus Merzbache Disease.