Alagille Syndrome

Action in Advocacy: How Physicians Can Drive Advocacy for Rare Disease Families Outside the Exam Room

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Written by Cher Bork, Alagille Syndrome Alliance Executive Director


Part of the Alagille Syndrome Alliance Advocacy Education Series

When rare disease patient advocates define our work, it is to provide avenues for comprehensive support for the patient and family – support that is not medical in nature but rather addresses concerns like the financial and emotional impact of a rare disease diagnosis. We focus on serving the rare disease families and supporting the science in our disease state, but physicians are a big piece of the advocacy puzzle that shouldn’t be overlooked. As the central point of contact for a patient, you are our connection to the newly diagnosed. Patient Advocacy Groups (PAGs) value their partnerships with physicians – our goal is to serve patients alongside you. Medical teams, care teams, researchers, and patient advocacy groups that come together give a patient the very best opportunity for comprehensive support. 

You, the physicians, nurses, and clinical staff serve as the first line of defense for a rare disease family. Your knowledge and expertise set a rare disease patient on the right track with their medical care. But what about the time after the appointment ends when the patient and family walk out of the office with a life-changing diagnosis? That “life-changing” moment reaches far beyond the examination room; far beyond the needed treatments and therapies. A rare disease diagnosis many times means job loss, financial hardship, marital stress, isolation, guilt, and many other life-altering impacts. The leaders of the PAG likely have years of experience with these ancillary, but critically important aspects of the disease or condition and the impact they have on daily life. 

PAGs have evolved into multi-functional entities offering support for families including financial assistance, educational resources, connections with other families, support groups, and opportunities for the patient voice to be heard in science and research. A family with a new diagnosis may not yet know what support they will need, but the leaders of the PAG do and can provide support at each step along the way. Just as the physician walks with the patient and family on their medical journey, the PAG walks with them through the financial and emotional aspects of their rare disease. 

Resistance to connecting with a disease state PAG could stem from several misconceptions. Misconceptions can include the belief that the PAGs may require membership for a physician and/or a patient, that the members of the PAG may question a care path, or that they may push a specific therapy. Whereas many of these may take place, those are isolated occurrences. The leaders of the PAG understand loss of jobs, homes, marriages, and loved ones. Our mission is not to challenge the care a physician provides. Our mission is to support the patient and family outside of the clinical setting as they walk through the trials of rare disease in daily life. 

The quicker a patient and family can access resources and support, the better they can navigate their disease and maintain mental and emotional health overall. If you, the medical team, connect the family to the PAG, you will be helping to fill the missing piece of the advocacy puzzle. Connecting and engaging with the disease state patient advocacy group plays a vital role in advocacy for the patients and families. Developing these relationships will keep you informed of available programs and support for these families. 

Three easy steps to connect with the disease state PAG:

1) If you are unsure if a specific disease state has an active Patient Advocacy Group, a great place to start is the NORD patient organization list at https://rarediseases.org/for-patient-organizations/membership-profiles/member-list/.

2) Once you have the contact information for the PAG, send an introductory email to let the leaders know you are treating a patient in the disease state. 

3) The PAG will send you digital or printed materials for you to distribute to the family. This gives the family the opportunity to connect for support rather than you providing private contact information. 

With your help, we can complete the advocacy puzzle for rare disease patients because “if not us, then who?”

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