One in a Million: Living with a Rare Disease
Advocacy One doctor shares the story of how she was diagnosed with an uncommon bone disorder, and how her journey inspired her to help others.
At my birth it was obvious something was wrong, but no one knew what. The entire top of my head was sunken in and bone was missing. The immediate assumption was that I had a brain defect, but at three months of age, when my doctor noticed I had no collarbones, the diagnosis came shortly after: cleidocranial dysplasia (CCD). This rare condition is caused by a gene mutation that affects bone formation, mainly the skull, collarbones and teeth.
Growing up different
Between ages 8-19, I had all of my baby teeth pulled, extra teeth removed, impacted teeth brought down, plates and screws, gum grafts, braces, headgear, dental implants and jaw surgery.
I had a dent in my forehead, my eyes were wide set, my chin was large, my knees were knocked, my feet turned in, my nose was crooked and my fingers were too short. Bullies, even my fifth grade teacher, would attack my appearance and call me names. To this day I have nightmares about my teeth.
Gathering a community
I never met another individual with CCD until I was 33 years old. My life was changed when I connected with other people who understood my story. In 2017 I started a nonprofit organization, CCD Smiles, to help connect those with CCD to dental resources, raise awareness and assist with medical costs. Last summer was the first CCD Smiles conference in Salt Lake City, Utah. About 125 people with CCD from 28 states and four countries gathered together. We are no longer alone.