A Rare Privilege
Thursday, February 28 is Rare Disease Day, a day dedicated to raising awareness of rare disorders and their impact on the lives of patients. In Acom Healthcare’s 34 years, we have had the privilege of teaming with patients, practitioners, advocacy organizations, professional societies and pharmaceutical/biotechnology companies on more than 34 different rare diseases. It’s worth repeating. 34 years and 34 diseases. Bringing people together through patient, caregiver and practitioner advisory boards. Sharing stories. Filling in gaps with knowledge and support. And always learning. Over the years, several aspects of increasing awareness of rare diseases have become increasingly clear.
People, Not Patients
The individuals we’ve met who are living with rare diseases are uniformly committed to not being defined by their disease, and to the best of their ability, not letting it color their approach to life. The word “patient” carries many connotations – none of which are particularly positive and all of which position the individual as vulnerable. The people we’ve met have been modest heroes, who are remarkably brave without conceit or disillusion. Regardless of how a disease may manifest, it is paramount never to let that cloud our ability to see patients as people.
The term caregivers covers a wide range of extraordinary people. Parents, siblings, close family and friends. People living with rare diseases often do so within an ecosystem of individuals who provide unwavering support. These selfless people, not physically burdened with the disease, are deeply impacted. Their lives have been forever changed. And the range of emotions that accompany their journey can be vast. From feelings of isolation, depression, anger, frustration and guilt to joy, fulfilment, protectiveness, celebration and a deep sense of love. Caregivers deserve not only appreciation, but also support for their own needs. Rare diseases not only affect the individuals who are living with them, but the person’s entire network of family and friends.
Strength in Numbers
Just like the people living with them, rare diseases are all distinct. Each with their own characteristics and burdens. As different as the diseases are, their rarity creates some commonalities. A profound bond between those affected – often resulting in communities that are robust and resilient. An ongoing need for support and understanding – from friends and family, employers, insurance companies, specialty pharmacies, and so many more. The rare disease community is comprised of a broad family of people and disorders – individually remarkably rare – and collectively undeniably a force that should never be underestimated. There is truly strength in numbers. Becoming a member of the rare disease community – even if it’s only through volunteerism, advocacy or support – is essential. Together we can all help to make a real difference – whether advocating for funding or research, or making sure that anyone who could benefit from medical care has access to it.
The stories of practitioners who have changed lives for the better, advocacy organizations (many times started by people diagnosed with a rare disease) that have been there for families when no others have, and friends who have extended themselves well beyond expectations – these too are rare heroes who should be recognized.
We are enormously grateful to those individuals who have welcomed us into their lives. It is our responsibility to help share their stories and continue to raise awareness of rare diseases. It is in this spirit that we ask you help recognize Rare Disease Day. Paint your face, post on social media, reach out to family, friends and colleagues. For more information or to find out how to get involved, please visit RareDiseaseDay.org. Thank you!
by Jonathan D. Katz