Quinnipiac University held a symposium on March 24 at the North Haven campus to help bring awareness to rare diseases.

The ninth annual Rare Disease Day Symposium was presented by the Frank H. Netter MD School of Medicine at Quinnipiac. Attendees were able to join in-person or virtually.

The symposium typically is held on Rare Diseases Day, which is generally observed on Feb. 28 or Feb. 29, leap day, which is the rarest day of the year. Due to inclement weather in late February, the event was postponed.

The symposium included keynote speakers that spoke on topics such as neurological diseases, a patient panel that gave the opportunity for people with rare diseases to talk about their experiences and a roundtable discussion that focused on the topic of clinical trials.

Anoush Calikyan, a fourth-year medical student, was a student coordinator for the event. She said that 1 in 10 people have a rare disease.

“It’s a big part of the population that’s often ignored, both in research and patient advocacy, so this event is really held so that medical students, medical professionals, and healthcare professionals know more about rare diseases,” Calikyan said.

The U.S. Government Accountability Office, an agency that oversees Congress’ activities, estimates the total cost of rare diseases in the United States in 2019 was $966 billion. This includes costs like medication and doctors visits, but also nonmedical costs.

An analysis from GAO found that factors such as lack of knowledge of rare diseases, lack of available testing and other resources and misdiagnoses can make diagnosing rare diseases difficult.

Terry Muldoon, a first-year medical student who volunteered at the event, emphasized that spreading awareness about rare diseases can benefit people with these conditions.

“Have these conversations (about rare diseases) to spread awareness,” said Muldoon, who is also a member of the patient liaison committee, which helped organize the patient panel. “When you spread awareness, people will have more knowledge and more resources.”

Muldoon also said the symposium impacted her as a medical student.

“To learn about the rare disease community and know that there are researchers out here who are putting in so much work and dedication to helping, it’s really inspiring to me … to see that people are dedicating themselves to studying these things and the real difference that we can make in the future,” Muldoon said.

Students strive to join the medical field for various reasons. But for first-year medical student Demitrios Master, his reasons are personal.

Master said he came to the symposium to not only support his friend who was presenting a research project, but because he has a rare disease himself.

“That’s part of the reason why I wanted to become a doctor,” Master said. “So when I’m confronted with a patient who might have a rare disease, who might not know what’s going on with (their health), I can be more attuned and empathetic to them.”

For years, Master was diagnosed with one rare disease. But recently, he was told that he did not meet the criteria for the disease, and now does not have a name for his condition. But because of his experience, he feels motivated to serve the rare disease community. Part of that, he said, is to educate and raise awareness about rare diseases in the medical field.

“I’m really hearted to see that both the Netter School of Medicine and the University, as well as Connecticut Children’s (Medical Center) was making a real effort to bring awareness and also highlight patient experience of people, and move beyond an academic and intellectual curiosity,” Master said.