NORD (National Organization for Rare Disorders) is the official U.S. sponsor of Rare Disease Day®, which occurs on the last day of February each year. On Rare Disease Day, millions of patients and their families around the world share their stories to promote awareness of the challenges, hopes, and needs of those living with rare diseases.
There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community. Patients are participating in research and, in some cases, they have taken the reins themselves to fund their own research. For example, I have participated in several clinical trials and surveys.
The number of raising awareness initiatives are also increasing. Patients and caregivers, foundations, and physicians are participating in a myriad of initiatives to spread awareness. We, too, are involved to make an impact.
Last February Mackenzie’s Mission launched the Amyloidosis Speakers Bureau (ASB), an initiative we believe so important it is the cornerstone of our raising awareness efforts.
Amyloidosis is considered a rare disease and is not well known. However, there is a belief within the medical community that this disease is not rare, it is underdiagnosed or diagnosed when it is too late to make a difference. The complexity of this disease makes diagnosis one of the biggest challenges affecting patient lives. It is not uncommon to hear from patients that it took multiple years and multiple doctors to ultimately arrive at a correct diagnosis, all the while the disease continued to progress. Until a cure is found, it is imperative to raise awareness within the medical community so that diagnosis can be determined much sooner, enabling effective treatments and therapies to slow the disease progression and improve patient survival.
WHAT WE ARE DOING ABOUT IT
The ASB is an initiative focused on educating the medical community, specifically the next generation of doctors during their first/second year of medical school, about this disease through presentations from amyloidosis patients, an educational video, and expert-curated library of excellent presentations. The medical school curriculum includes an introduction to diseases, although we know the typical education about amyloidosis is minimal, making this the appropriate target audience. In addition, at this point medical students have yet to declare their specialty, thus the ASB can educate future doctors of a wide array of disciplines (e.g., cardiology, ENT, hematology, hepatology, nephrology, neurology, oncology, orthopedics). This is important because amyloidosis has many variations (e.g., AL, AA, ATTR) which present themselves in a variety of ways.
There are over 170 medical schools across the country, each with classes of medical students that typically range from 50 to 250. Every year there is a new class of students for us to inform and educate. So the ultimate goal is staggering. We are super proud that so far in our inaugural year, the ASB has presented to 35 schools and reached over 7,500 students!!
You, too, can support Rare Disease Day and get involved. If you are a patient, perhaps become an ASB speaker. Or, hold a fundraiser where you donate proceeds to your favorite amyloidosis organization. There is much all of us can do.
Thank you for your support,
Karen Love says
My daughter diagnosed in fall 2019, supporting her