Andrea, a 50-year-old from Winnipeg, Canada, was born with an asymmetrical face. When doctors immediately noticed that the right side of her face was puffy and larger than normal, they assumed the worst. Andrea’s mother was crushed to hear that her baby was “most likely mentally handicapped and had cystic fibroma.”
However, Andrea learned to walk before she turned one. She began talking and developing normally. Her parents quickly realized how wrong her doctors had been.
Over the next 40 years, Andrea had countless surgeries, removing tumors and growths that had continued to develop on the right side of her face. She had received a diagnosis of neurofibromatosis (NF), but it never seemed quite right.
But technology and medicine had changed dramatically during this time, so her surgeon suggested something a bit unusual: find one of the specimens, now over 20 years old, that had been saved for future medical research.
It worked. Andrea finally received a definitive diagnosis. She was living with an extremely rare disease called PIK3CA-related overgrowth spectrum (PROS).
Andrea described that moment as a relief.
“It was an actual confirmed diagnosis, not just someone saying ‘I saw a picture in a textbook of someone who looks sort of like you.’”
For the first time, she also felt she could “really connect with people who have what I have [through online support groups]… and see people with my same face. I had never seen anyone before with the same kind of face as I have. It’s an honor to meet someone who shares this irregularity.”
This was extremely impactful after facing years of bullying and discrimination. Andrea was not only bullied by schoolmates as a child but also by adults in her many years as a professional dancer.
“When I was studying full time at the ballet, I got pulled into the office on a regular basis to be given lectures about how I was too fat, and my face was an embarrassment to the profession,” she shared. Despite the hurt and rejection she received during that time, she pressed onward, even dancing professionally in Swan Lake on tour.
“It gets so in your head. I did so many years of therapy for eating disorders and self-esteem issues. You continue to have those voices in your head that you’re not worthy or not pretty. People say, ‘Don’t you want to look like so and so? But it’s only as an adult that you have the guts to say, ‘Well, I can’t. I want to look like me.’”
Today, Andrea feels she has a “responsibility with younger people who have these disorders to ensure that they don’t have to look a certain way to be valued in our society… Don’t let anybody tarnish that shine. You can do and be anyone you want to be.”
Andrea is also looking out for the future generation by doing all she can to find answers, treatment and a cure for her PROS. She has signed up with AllStripes, a platform that enables rare disease patients to access all of their medical records and contribute their de-identified information to advance research.
The community of AllStripes Ambassadors also connects rare disease patients, families and caregivers.
“I wanted this so badly when I was young. I can’t even imagine how different my life would be if at 12, I had access to someone like me who was older and had a similarity. It would normalize it for me. Connecting with AllStripes was a no-brainer.”
Andrea is excited to see more people with rare disorders finally become more visible. “Now there’s a Rockette with an amputated arm. Crazy Legs is a hip hop dancer who does all of his dancing with crutches. Our society is ready for that in so many ways. It’s time.”
But it’s thanks to people like Andrea paving the way and redefining standards that others can now shine.