As we begin a new year, we are certain that 2023 will bring a renewed energy and optimism to the rare community. This year we celebrate the 40th anniversary of the passage of the Orphan Drug Act. This landmark legislation, introduced during the Reagan Administration, has accelerated drug therapies for patients diagnosed with a rare disease. Since its enactment, more than 1100 treatments have been approved. At the time of signing, President Reagan remarked, “I only wish that with the stroke of this pen I could also decree that the pain and heartache of people who suffer from these diseases would cease”. These powerful words exemplify the human experience as the great equalizer. Although President Reagan did not live with a rare condition himself, his ability to empathize with the community proved invaluable.
We’ve also witnessed incredible evolution in drug discovery within the last 40 years and enormous strides have been made in our understanding of the human genome. Dr.Emil Kakkis, whose professional trajectory I deeply admire, eloquently outlines the reasons why we need an update. Reading his publication, I’m reminded that our laws must evolve with the growing body of scientific knowledge.
Nonetheless, what remains timeless: is the power of patient advocacy.
The Orphan Drug Act came about, in large part, due to the effort spearheaded by Abby Meyers: a mother to a child with Tourette’s syndrome. Her efforts ultimately galvanized the “forgotten patients” of our healthcare system. Meyers' persistence in personal advocacy was not only critical in benefitting her own son, but it catalyzed a benefit to 30 million individuals living with a rare condition in the United States. Future generations that may be diagnosed with a rare condition will also see the fruits of Meyers’ labor as our healthcare systems continue to expand their inclusion of the rare community.
Considering the impact on future generations, I am happy to share a new initiative, but also one- I’ve been personally drawn to over the years: children’s literacy. Children’s literacy is a foundational building block of all healthy societies. It is important that these building blocks reflect a true picture of our communities, while cultivating connections to those who may be different from us. As a child, I was always in awe of how stories could take me places and help me understand different experiences, even if it were only for just one read. It encourages curiosity and imagination and allows individuals to have access to new information on their own terms.
In 2019, a study showed that only 3.4% of children’s books have main characters that are disabled. Unfortunately, that number is even smaller for minorities or communities of color. In an effort to move this needle, this initiative has two parts:
Working with Alliance to Cure Cavernous Malformation to develop a children's book for a community in New Mexico. Cerebral Cavernous malformation is a rare genetic brain condition, and can present in a familal manner; this condition has impacted generations of families presently living in New Mexico.
I am developing a resource list of children’s books that promote a deeper understanding of what it means to live with a rare condition. I am inviting any authors to reach out to me directly if you would like your book added to our resource page.
While moving the needle on health equity within our rare communities, I am convinced that our collective stories and experiences can be the catalyst for positive change in society. When someone tells their story, it creates space for others to do the same. In the words of Abbey Myers, from her book (an electronic copy can be accessed here): Orphan Drugs: A Global Crusade …
“many people must walk together before a new road comes into existence”.
All my best,