In Review: Rare and Neglected Diseases Symposium 2022

Author: Addy Bali, Camey Calzolano

April 4th, 2022: Living with Rare

 

The 2022 Boler-Parseghian Symposia began on April 4th. The theme was Patient Advocacy covered in three parts   Dr. Kasturi Haldar, Director of the Boler-Parseghian Center for Rare and Neglected Diseases warmly welcomed the group. Dr. Haldar regretted that Annual Rare Disease Day Conference could not be celebrated in person in 2022, due to uneven risks of COVID-19 exposure.

 

The first panel discussed ‘Public Policies Of, By, and For Rare Diseases. There were four panelists Megan Crowley (ND ’19), Frances Fitzgerald (ND ’18), Gabe Donovan, and Annie Hamilton (ND ’26). The session topic was inspired by Gabe Donovan, a current senior in high school who had previously visited and given a talk to the RareND club. Addy Bali (ND ’23) ably moderated the session. The discussion addressed important gaps in the current system that fail to address support surrounding disability. Gabe indicated that most university applications such as the common app did not ask about disability services. That would be his first change to advocate for. Megan and Frances both noted that in the professional sector, it seemed like starting all over again after navigating to the right help at university. Annie explained a need to “level the playing field,”:  she wants her disability to be recognized but does not want it to define her. Everyone agreed that when broaching the topic of disability, it is best to simply ask and come from a good place. All panelists felt that they would rather have someone directly ask about their disability rather than beat around the bush.

 

In the second part Addy Bali (ND ’23), Bailey Perczak (ND ’22), and Camey Calzolano (ND ’22) were jointly awarded the  Megan K Crowley Award for Patient Advocacy and the John M. and Mary Jo Boler Rare Disease Research Award.  Megan Crowley presented the awards. Addy’s principal research and advocacy achievements were respectively in rare disease gene therapy studies and as President of the RareND club. Bailey authored three new publications for the National Organization of Rare Disorders (NORD), a critical agency for Rare Disease Patients and Researchers.  Camey co-authored on a publication for NORD and led on data analytics for Know The Glow (KTG), a global non-profit dedicated to preventing childhood blindness.  Addy and Bailey were also recognized for KTG patient advocacy

 

The third panel on Know The Glow: Preventing Childhood Blindness comprised  of Addy Bali, Bailey Perczak, Camey Calzolano, and Megan Webber (ND ‘90),  co-founder of Know The Glow who also moderated the panel. The “glow,” is medically known as leukocoria, and often serves as an indicator of a number of underlying eye diseases. Megan Webber spoke about how the identification of the glow had saved her son’s life and the advocacy work that KTG has done both in the United States and internationally. Addy spoke about KTG expansion into India, through translations into national and regional Indian languages and connecting key stakeholders in India. Bailey led in Venezuela with social media management with KTG. In addition to her summer research, Camey led fall 2022 campus awareness campaign at Notre Dame. Megan concluded that all three students cemented a firm foundation of joint work by KTG and CRND.