Obtaining a Rare Diagnosis
For Danny and Nikki Miller, the search for answers on a mysterious illness that afflicted their two boys, Carson and Chase, was daunting. Initially, there were no indications that anything was amiss. After 7-8 months, Carson’s movements and developmental milestones weren’t matching up with other kids his age. His movements seemed stiff, he wasn’t crawling, he didn’t vocalize much and his hands fisted quite a bit. Cerebral palsy was suspected. Later, after a second child Chase was born, the same pattern of developmental delays reappeared. At this point, Danny and Nikki became very worried. They spent the next two years seeing different specialists with their two boys and getting no answers. Genetic screening, including panel testing, karyotyping and whole exome sequencing was performed with inconclusive results.
In 2017, the Marin County, California family turned to the Stanford branch of the NIH Undiagnosed Diseases Network for help. There were visits with a geneticist, neurologists, a neuro-opthamologist, and blood and skin samples were taken. Whole genome sequencing of all four family members was performed and the mystery began to unravel. A diagnosis of an ultra-rare neurodegenerative mitochondrial disease, MEPAN Syndrome, was established in early 2018. The syndrome is so rare that only 13 patients are known worldwide.