Local woman with rare genetic disorder raising awareness

KING 5's Jenna Hanchard reports.

Emily Locke, 27, likes to share the good from the inside. By day she’s a bagger at QFC, and in her spare time, she’s a photographer and an artist.

“I like to capture people’s personality in their pictures. I like to take pictures of people to show them how beautiful they are. “

Locke sees the beauty in difference and she’s even able to find humor in those who don’t understand the beauty of her differences.

"My coworkers are pretty respectful, but some of the customers they ask me questions - like they ask me if I'm a guy or a girl or, ‘What’s that?’ And I just smile and say, ‘I'm a girl.’ Like yesterday a girl said, ‘A grandpa is working there’ and I just laughed at that."

That’s why she wants to share her story on how she was diagnosed at a young age with a rare genetic disorder called Coffin Siris Syndrome or CSS.

Doctors say the characteristics and defects of CSS vary from different facial features to certain development and intellectual disabilities and dwarfism

“As we learn more and more about genetics, we're finding more and more kids who don’t exactly look like the first kids with Coffin Siris Syndrome,” said Dr. James T. Bennett from Seattle Children’s Hospital. He recently diagnosed his first case of CSS.

Doctors say there may only be about 200 people worldwide with the syndrome and as awareness spreads and more families are connecting even here locally.

Carissa Robinson, the mother of a child with CSS who sees Dr. Bennett, recently met Emily through Facebook.

“It’s exciting to have families come together and have community around it. Raising kids with disabilities can be really isolating,” said Robinson

Robinson and Locke say raising awareness means more opportunities for research and education.

"You know how people have autism and whole world knows about that,” said Locke. “That’s how I feel I want people to know about Coffin Siris."

Lock and Robinson have helped to bring the second national CSS conference to Seattle this weekend to host families, doctors, and researchers to raise more awareness about CSS.

© 2017 KING-TV


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