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When Francis was born, nobody knew whether he’d survive. The doctors didn’t know what happened. His parents were in such a state of shock that they immediately abandoned him. Strangers underestimate him just because he looks different. Despite this, he found the strength to fight against negative attitudes and achieve things that no one expected.
Development in the womb is a complex process. How do we grow from a single, fertilized egg cell into a living, breathing baby? Somewhere along the way, we develop roughly 200 specialized types of cells that make up our nerves, our muscles, our bones, and everything else. This sequence of events is extremely sensitive, and there are many opportunities for development to go wrong. The odds are stacked against us before we're even born. For every three fertilized eggs, chances are that only one of them will survive to term. That’s how complicated this entire process is.
This episode is about our friend, Dr. Francis Smith. He was born with Treacher Collins Syndrome. It’s a genetic disorder where the bones of the face and ears do not form. 
Francis, 2 years old, before any reconstructive surgeries.
When Francis was developing, something happened to the cells that were building his face. These cells failed to develop. This caused extensive defects in the bones that make up the face, ears, and jaw.
 Francis, in the middle of some microscopy.
Francis drew these pictures based on CAT scans of his own skull at age 7. He was born with incomplete eye sockets, no cheekbones, a cleft palate, meaning that his mouth and his nose were not completely separate, and a jaw so small that it squeezed his airway shut.
Since then, he's had rib grafts to replace his missing cheekbones and lower eye-socket rims, plus multiple upper and lower jaw surgeries. All these procedures helped Francis breathe and eat more naturally. This gave him the independence to pursue his education. But his struggle wasn't just physical. He was teased by classmates and teachers. People would take one look at him and assume he had a learning disability. He describes elementary and middle school as some of the hardest times of his life. Fortunately, he found a supportive environment in high school, and that's when he was encouraged to follow his interest in medicine. It’s probably not a surprise that he wanted to become an expert on skulls. He followed the typical pre-med student track in college. He moved to London to earn a Masters degree. And we met Francis while he earned his PhD at University of California, San Francisco.
Nearly every time we saw him on campus, he was carrying a violin case. He’s been playing music since he was a child, but, during the course of the interview, he revealed that he was born without ear canals or those tiny bones behind the eardrum, the ossicles. Despite this, he somehow learned to play piano and taught himself to play violin.
A major motivator in Francis's life is his identity as a Treacher Collins Syndrome patient. He is active in the craniofacial community and often attends conferences and retreats designed to bring patients with craniofacial syndromes together. One of the retreats that Francis attends was founded by Cher after she played the mother of a boy with a craniofacial condition in the 1985 movie "Mask." He and Cher keep in touch and she often invites him backstage at her shows.
At the top of this post, we wrote about the incredible odds against each of us as we develop from a fertilized egg into a functional adult human. These odds against Francis led to his unusually hard life, but through a lot of perseverance, he’s managed to turn it into something extraordinary.
Follow Francis's journey, and hear him play some piano in this month's episode of The Bone Lab.
Credits:
Music - Sunhiilow, Eric Pietras, Francis Smith, Broke for Free Artwork - Michelle Woronowicz Production - Jeannie Bailey, Jennifer Fish, Jenny Qi, Kate Woronowicz  Episode 1 - About Face by The Bone Lab is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. Comments are closed.
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