Rare – Always Present and Never Forgotten

The experience of attending Rare Disease Day at the National Institutes of Health (NIH) exceeds the confines of the definition of rare and should be more appropriately defined as extraordinary, shares a new Medika author.

Rare. A four letter word that is defined in Merriam Webster’s dictionary as seldom occurring or found. For people with rare illnesses, this definition is daunting. However on February 28, 2023 in the Natcher Conference Center, the word rare felt less ominous or abnormal and more understood. “Rare,” created indestructible ties between seemingly disconnected people via personal stories, scientific progress, and even zebra-striped clothing. The experience of attending Rare Disease Day at the National Institutes of Health (NIH) exceeded the confines of the definition for rare and instead should be more appropriately defined as extraordinary.

Attending the conference alongside my mentor Shazia Ahmad, the Senior Director and Head of Patient and Physician Services at UBC was a meaningful educational opportunity. I am not a stranger to the rare disease community, as my brother received treatment at age 5 for Macrophage Activation Syndrome, Hemophagocytic lymphohistiocytosis, and atypical presentation of idiopathic Juvenile Rheumatoid Arthritis. I felt as though my family may have been the only ones to confront such a grueling experience, however while attending Rare Disease Day, I came to appreciate that the rare disease community is made up of over 300 million patients plus researchers, caregivers and physicians all working together helping those afflicted.

The feeling of hope for treatments of each rare disease vibrated through the room. These vibrations were expressed by Sharon J. King, Advocacy and Community Engagement Manager at Alevron, who said “hope is like air.” She explained that hope is what carried her through her personal journey as she lost her daughter to a rare disease. Using King’s analogy, the conference center had an abundant supply of air, or hope, that day. Conference members answered calls of hope with new products as well as new projects with the Genetic and Rare Disease (GUARD) Information Center, Rare Disease Alert System, Platform Vector Gene Therapy, and many more.

The GUARD Informatic Center would have been a lightning strike in a field of darkness during the diagnosis of exclusion process that my parents had to navigate with my brother.  I watched my parents endure sleepless nights by compiling stacks of information into binders to fight to find the rare disease from which he was suffering. With applications like GUARD Information Center, hours of frustration as well as fear would have been alleviated by having a special database of all rare diseases. 

Attending sessions and listening to dialogue conversations between patients, physicians, companies, and political figures, was inspiring and educational. Questions were asked in both directions for what can be done to meet the community’s needs in every aspect of care. This encounter exemplified Kristen Wheeden, President of the United Porphyrias Association and Rare Disease Caregiver point of who is really the expert when it comes to rare diseases. Is it patients or physicians or someone else? This ongoing theme during the conference epitomizes the success of the rare disease community being dependent on each other. These heartfelt and emotional discussions displayed the need for even more cooperation to make bigger strides toward progress.

As stated by Joni L. Rutter, Ph.D., Director of the National Center for Advancing Translational Sciences (NCATS) at the NIH, the rare disease community not only wants more treatments, but also cures for more people. The more people Rutter referenced were the often forgotten groups within the rare disease community. These micro-communities finally got their long overdue spotlight on February 28th with meaningful discussions about how different organizations work to ensure that research and treatments are inclusive to their populations.

The conference was even united in their stylistic choice of attire, zebra stripes. The symbolic representation of duality, determination, empowerment, and community.  The perfect choice.

Despite amazing efforts made that were highlighted during rare disease day, this is only the start. It is vital that hope continues, and efforts are combined within the rare disease community to create more change. As Shazia Ahmad said, “we need advocacy and industry to work together to accelerate progress.” What began on the morning of February 28th is an extraordinary beginning, but thankfully not the end.

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Julia Martinez
Julia Martinez
Julia Martinez is a student at Riverside High School in Leesburg, Virginia. After graduation she is interested in pursuing undergraduate studies in neuroscience or global health with a goal of attending medical school. Dedicated to patient information and advocacy, she works closely with clinical research expert and patient advocate Shazia Ahmad.
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