"For 37 years, I lived as both a research scientist and a patient—collecting misdiagnoses like puzzle pieces that never fit. I was told I had ten different disorders and underwent countless treatments, yet none brought relief. Why? Because medicine was treating symptoms rather than uncovering the root cause.
Only by drawing on my scientific training and access to emerging genomic technologies was I able to connect the dots: all of those conditions stemmed from a single ultra-rare coding mutation."