When Dr. Carolyn Macica first envisioned an event centered around the promotion of rare diseases, she did not realize how impactful it would grow to become for the patients she sought to support.

This year’s Rare Disease Symposium marked the 10th anniversary of Macica’s vision, bringing together a wide range of passionate and dedicated supporters of the rare disease community. The event attracted a host of medical students, professors and clinicians, as well as individuals and patient organizations advocating for their respective condition.

“My mission for the work we do is to inspire all healthcare providers to listen and learn – it's that simple,” said Macica, an affiliate professor at both the Frank H. Netter MD School of Medicine at Quinnipiac and the Yale School of Medicine. Macica is also co-director of the Scientific Center for Rare Disease at Connecticut Children’s Research Institute.

The symposium was hosted at Netter in partnership with the Connecticut Children’s Research Institute. Macica organized the event with Dr. Maureen Helgren, an associate professor of medical sciences, and a six-person committee of Netter students.

Macica initially decided to pilot the symposium after Dr. Erin White, a student in the inaugural Netter class, approached her with the idea of hosting an event. Macica was intrigued by the opportunity to bring the community together to promote awareness of rare disorders.

“The rare disease community inspires me every day,” Macica said. “I spend a lot of time communicating with patients and their passion inspires me. Their message is the same regardless of the rare disorder: ‘Please hear me and take the time to learn about my disorder.’”

During the opening ceremony, Macica shared a moving photograph of two siblings afflicted with a rare and extremely disabling disorder known as Friedreich’s Ataxia. One of the patients, Alex Bode of North Branford, Connecticut, was in attendance and warmly addressed the audience to share her appreciation for their support. 

Macica also presented a brief news clip to highlight Bode’s impact in the community via her nonprofit organization, Peace, Love and ACCESSibility. The mission of Bode’s organization is to improve access for those with physical disabilities. Her main focus is to raise awareness of the abuse of handicapped parking placards and to combat improper parking practices in accessible areas.

Bode also strongly advocates for the primary objectives of the symposium, which is to connect medical professionals with rare disease specialists in order to improve early diagnosis, prevent misdiagnosis and accelerate potential treatments.

“When we think of access, we must think far and wide,” Bode said via her organization’s Facebook page following the event. “As a rare disease patient, we have gone through many unknowns when it comes to diagnosis and treatments.”

The symposium also featured two keynote speakers, Dr. Patience H. White and Dr. Emily Germain-Lee, who both spoke to the event’s theme of the patient’s transition from pediatric to adult healthcare. The recurring messages that were expressed throughout the four-hour event touched upon the many difficulties this transition presents within the rare disease community. 

White opened the conversation by presenting an overview of her work and the critical role that clinicians play in the transition of their patients from youth to adult healthcare settings. She emphasized the importance of using a standardized process to facilitate a streamlined and effective transition of care. 

White was followed by Germain-Lee, who spoke to her lifelong commitment to the study and treatment of Albright Hereditary Osteodystrophy. Germain-Lee is a pediatric endocrinologist who established the first and only clinic dedicated to AHO and treats roughly 1,000 patients with the condition worldwide.

Based upon the filled auditorium, it was clear the highlight of the event was the patient panel, which featured four individuals representing different perspectives within the rare disease community. The panel was comprised of a patient living with Congenital Myasthenic Syndrome, a mother of two children afflicted with Juvenile Huntington Disease, and Anne and Brendan LeMieux, a mother and son who shared their experiences living with Williams Syndrome.

Following the event, Brendan LeMieux explained that because he was diagnosed with his condition when he was only 12 years old, it took several years to fully accept his diagnosis. However, once he reached that point, he found a great deal of satisfaction in sharing his personal story with others.

“I think my story gives a little bit of insight into who I am, not only as a person, but as a person with a disability,” he said. “It felt empowering and liberating because I was able to share my story and get the word out.”

During the closing ceremony, Netter student Amber Parson was presented with the inaugural Pullano Scholarship for Rare Disease Award. The Pullano Family Endowed Fund for Rare Disease Education and Research was established by Frank and Maureen Pullano in 2022 and supports a variety of rare disease-focused initiatives at Netter.

In a fitting gesture of support, Bode’s organization, Peace, Love and ACCESSibility, sponsored the honorary plaques that were presented to the Pullano Scholarship and Young Investigator awardees.

“It was a totally unexpected offer,” Macica said. “It illustrates the passion of our rare disease communities.”