In 2014, when Emma Nelson was born, NICU staff told her parents, Kim and Justin, to prepare for the worst.
But for the next two years, Emma had no diagnosis. Kim and Justin were directed from one specialist to the next trying to find answers to their daughter’s unique symptoms.
In the fall of 2016, Emma underwent whole-exome sequencing, which revealed a single mutation in the MAGEL2 gene, a mutation that was too small to be detected on less-refined tests. Finally, the Nelsons had the diagnosis they had been searching for. Their daughter had an ultra-rare genetic disorder: Schaaf-Yang Syndrome (SYS). Emma was only the 28th patient to be diagnosed.
Topics: Stories of Hope