Uncommon, but not unnoticed: Rare Disease Day awareness
By Joseph D’Alessandro and Devi Chowdhury
Stony Brook University’s Pre-Genetic Counseling Society and the Career Center’s Center
for Service Learning and Community Service hosted its first annual Rare Disease Awareness
and Networking Event to celebrate Rare Disease Day on February 28.
Rare Disease Day is a worldwide effort aimed at promoting equity in healthcare, and availability of diagnosis and treatment for people living with a rare disease.
This year’s event was coordinated by a group of undergraduate students who wanted to bring awareness and recognition to rare diseases. Michelle Li , President of SBU Pre-Genetic Counseling Society and third year Biology major, was inspired by the connection between the zebra symbol of rare disease day and the iconic zebra-striped pathway on Stony Brook’s campus.
The event provided students with the opportunity to listen to the experiences of a patient from the Hermansky-Pudlak Syndrome (HPS) Network, learn about different rare diseases, and network with medical researchers and organizations in the healthcare field.
HPS, as arare disease, occurs in only 1-9 out of every 1 million people. HPS is a genetic metabolic disorder that expresses itself through albinism, visual impairment and difficulties in stopping bleeding, according to the HPS Network website. Despite its severity, little is known about the disease. This drove Donna Appell—HPS Network’s Executive Director and founder—to advocate for more research when her daughter, Ashley, was diagnosed with HPS 28 years ago.
“We appreciate the attention,” said Donna Appell. “People interested in rare diseases are rare people!”
Ashley has lived with the symptoms of HPS for her entire life, but doesn’t let it get her spirits down. “It’s not about being upset with the storm, it’s about learning to dance in the rain,” is a phrase her mother attributes to her.
Also in attendance was the National Organization for Rare Disease (NORD). NORD is a non-profit organization that works to raise awareness and advocate for the needs of patients with rare diseases.
Their motto, "Alone we are rare. Together we are strong," highlights the importance of community and collaboration in overcoming the challenges of living with a rare disease.
The organization’s mission is to improve the lives of people affected by rare diseases by providing education and support to patients and their families, promoting research and innovation, and advocating for public policies that benefit the rare disease community.
The event also featured student organizations such as SBU Project Sunshine, Women in Healthcare, Pre-PA Club, SBU UNICEF, Health Professions Club, and Undergraduate Biochemistry Society, as well as professionals within the field including Dr. Fusheng Wang, Dr. Hana Sugimoto Fukuto, Professor Donna Crapanzano, and PhD candidate YongLe He.
Student leaders of SBU Pre-Genetic Counseling Society believe the event brought greater awareness to rare diseases and those who are affected because of the formation of deeper connections and knowledge about meaningful ways to assist with rare disease efforts.
“It’s one thing to have to give a presentation with slides,” Michelle said, “it’s another to have a patient that’s there, and highlight the research that’s going on.”
By working together, patients, advocates, and healthcare professionals can make progress towards better treatments, more effective cures, and a more supportive healthcare system for all those affected by rare diseases.
To learn more about opportunities within the healthcare field, schedule an appointment with the Career Center.