Rare Disease Day Brings Doctors, Patients Together

Leap day only comes along every four years — and its rarity, advocates say, makes it the perfect day to focus on rare diseases. 

Tracy Greenberg has had mucopolysaccharidosis — Morquio syndrome or MPS4A for short — her whole life. But she was only properly diagnosed when she was 42 years old. She said she cried tears of happiness when she found out.

"Some of my family members said, 'Why are you so happy? Are you happy that you have this disease?' And I said, 'No, I'm happy that I'm going to be treated for this disease because I have it no matter what.'"

The rare disease she has is treatable, and it's improved her quality of life to have a treatment plan for her specific disease. She was part of a group of advocates and health professionals who gathered recently in Cleveland to engage around rare diseases.

Greenberg says proper diagnoses can improve quality of life and help people live longer, but diagnosing a rare disease can be difficult.

“The importance of having that diagnosis can be a difference between life and death,” Greenberg said. “I didn’t have a diagnosis, I thought I didn’t need one, and it really affected my trajectory in life.”

People around the world plan to recognize Rare Disease Day on February 29 to call attention to those who aren’t properly diagnosed or who are struggling to find treatment or a cure for rare diseases.