I Didn’t Think My Career Path was Going to Prepare Me This Way for Motherhood…
From an early age, I knew I wanted to be a biologist. I quickly discovered that I was most interested in genetics, and in cells and molecules…so I became a molecular and cell biologist, specializing in epigenetics. (Wait, don’t stop reading!) I followed my interests along the circuitous path that scientific inquiry tends to take, until I found myself studying the role of a gene called BAZ1B, that encodes a very interesting protein called the Williams Syndrome Transcription Factor (WSTF). “What is Williams syndrome?” I asked myself, and starting reading about it, both the scientific literature as well as the information I found on this very website—my first encounter with the WSA. My initial reactions were “what a fascinating syndrome,” and “wow those kids are adorable!” Then I was off to the lab with my students, studying how WSTF is needed for the early development of the brain and other tissues, how it might contribute to the complex clinical picture of WS.
We studied WS for several years and were getting exciting results…but my time on the research was soon getting balanced by time spent with my son Rhys. I had Rhys in 2009, and he greeted the world with big surprised blue eyes and nine months of terrible colic. Soon, we were encountering health issues and missed milestones…and eventually, genetic testing and a diagnosis of WS when Rhys was 19 months old. On the phone, the geneticist got as far as “We found a deletion on chromosome 7,” when I interrupted with “Are you kidding? It’s Williams??” The coincidence was mind-boggling. I entered into the WS community with the unusual perspective of a deep understanding of the genetic basis of WS and of the current research—but new to the world of early intervention, IEPs, ST/OT/PT… So it was back to the WSA, now as a parent, to try to understand the new circuitous path to follow with Rhys!
At our first convention (Boston 2012), I gave a talk on my research in the professional conference, then attended the convention with my family—and it was life-changing. I’ll never forget that first time seeing so many individuals of all ages with WS, so many different life paths—and the feelings of connectedness and shared experience. It has been wonderful to be able to give back to the WSA as a member of the board of trustees. I begin my term as board president looking forward to helping the WSA grow and continue its work sustaining research and providing resources and support for more and more families from all walks of life—helping us all along on our winding paths.
President, WSA Board of Trustees