We were fortunate to share our experience searching for a diagnosis for Carson and Chase with CBS News for a story they were doing about the amazing work that the NIH's Undiagnosed Diseases Network does to help families like ours find answers. I'd learned about the program through online research, and the boys had been through three years of doctor's visits and several rounds of genetic testing that provided no clear answers about the cause of the boys' underlying condition. We applied to the UDN program in the fall of 2016, and were thankfully accepted. Carson and Chase had their first visit with the Stanford UDN team in early 2017.
Over the course of that year, the boys were evaluated by several members of the Stanford team, including Dr. Greg Enns, a medical geneticist with specialized expertise in mitochondrial diseases. They also underwent more metabolic and genetic testing, including whole genome sequencing, which provides a comprehensive analysis of a person's entire DNA sequence and is considered the 'gold standard' of genetic testing. In February 2018 we received a call from our genetic counselor at Stanford with news that they had found the genetic variant in the MECR gene that was the likely cause of their condition. It was then we learned that Carson and Chase were one of only nine patients at that time that were known to have MEPAN Syndrome.
As a 'new' disease that was not well-known or studied, there was little information about the condition, other than the single paper from late 2016. The Stanford team helped us make connections with some of the researchers that wrote that paper, including Dr. Susan Hayflick at Oregon Health and Science University. Since that time we have connected with Dr. Hayflick, other researchers MEPAN families and to help create more awareness about MEPAN and organize efforts to pursue further research that can help find treatments for the condition. As part of that we have created a GoFundMe site to fund future projects. Please donate if you can!