Pennsylvania woman helping others with Cushing syndrome, other rare diseases
PHILADELPHIA (CBS) – Every four years, Rare Disease Day is celebrated on Leap Day to raise awareness and help people get earlier and better treatment. It's estimated there are as many as 7,000 rare diseases affecting about 30 million Americans.
A Pennsylvania woman with one of those diseases is working to help others get the care they need.
Marie Conley, like the actress and comedian Amy Schumer, experienced a dramatic change in how she looked before she was diagnosed with Cushing syndrome, which predominantly affects women.
"I joke it was my vanity that got me diagnosed," Marie Conley said. "I started gaining a lot of weight."
Conley, who lives near Harrisburg, used to compete in triathlons and said in addition to gaining weight and going from a size 8 to 16 in two years, she had a variety of other health issues — everything from pneumonia to brittle bones to shingles.
"It was hard and I was scared," she said.
It took three years for her to be diagnosed with the disease, which is when a pituitary tumor causes the body to make too much cortisol.
"It looked like different kinds of infections," Conley said. "I was told I'm working too much, or I had a young child, and you're doing too much."
The diagnosis made a big difference, she said.
"It allowed me to know two things: I knew I was sick, and I knew I wasn't crazy," she said.
Conley has had several operations and is now advocating to raise awareness about rare diseases.
"A lot of times rare diseases are invisible, so it's difficult," she said.
Amy Schumer said she went public about her disease to encourage other women to fight for their health, especially when their concerns aren't taken seriously by doctors.
"It's an opportunity to remind people to be kind because you never know what someone is going through," Conley said.