There are many ways that people living with rare diseases and their loved ones can be advocates! We connected with Anne Bruns, Senior Director, Clinical Patient Engagement, Global, on what it means to advocate on behalf of a diagnosis, how to advocate about a rare disease, the importance of participating in clinical trials and the ways PTC is advocating for patients.
What does it mean for patients/caregivers to advocate on behalf of a diagnosis?
Anne: When someone has a rare disease, most people around them have never heard about it, so advocating on the disease itself is so important. It is an opportunity to share something so incredibly important and to be heard in an often-difficult journey that the patient or caregiver is on. There is an opportunity to provide education on the disease, but I see the incredible effect that advocating can have on a patient or a caregiver in their own individual journey. A diagnosis can take so much away, and advocating empowers individuals to regain a part of that control and take ownership in creating the messaging around a disease that often goes unseen or unheard of.
What can patients/caregivers do more specifically to advocate on behalf of a diagnosis?
Anne: Educating yourself on the disease is the most important part of advocacy and provides multiple ways for awareness. First, within their own disease community. This is extremely important because not every patient or caregiver has the same access to quality health care, disease information, current research and overall disease management. Being an advocate within your own community creates an incredible level of support for others who are brand new to the diagnosis and overwhelmed.
Second, disease education creates the opportunity to build a partnership with the care team. Having a strong understanding of the disease will help each family know what questions to ask regarding disease management, research opportunities and overall quality of health for the patient. Despite the same diagnosis, each individual patient will be unique in their care and their journey, and the most important part of advocacy is to advocate for the best care for your own loved one.
Why is it so important for patients to consider participating in a clinical trial or natural history study?
Anne: One of the hardest parts about a rare disease is that there is more unknown information and more uncertainty instead of a clear path forward of information and options. The only way to change that is through research, and science needs the support of the disease community to participate in natural history studies or clinical trials. There is often hesitation about participating in a clinical trial, but doing so can provide a path forward to better understanding the intricacies of a disease as well as treatment options.
How is PTC helping to advocate for patients in this way, and what is the role of the PTC Patient Engagement team?
Anne: An incredible aspect of my role is being able to provide education and awareness on the fundamentals of the drug development process. We heard and listened to our communities asking for help in this area and were able to create materials that taught them the basics of what a clinical trial even is. We cannot expect a newly diagnosed patient to immediately enroll in a study when they are overwhelmed with a diagnosis, life-changing experiences, new terminology, etc., if they don’t understand how a clinical trial works. It’s important for families to have options in their care plan, but they need to understand how each of those options work.
What is the impact this type of advocacy can have on the rare disease community?
Anne: This provides a piece to the puzzle in the overall rare disease community – even outside the boundaries of a specific disease group. There are so many rare diseases that overlap in symptoms, causes, mutations, care options and more. The more advocacy done increases the odds of success for more communities. Information is shared, best practices are created and rare families win when more awareness and research is focused on what is most important to them – their disease.
Learn more about advocacy in our Insightful Moments™ Advocacy Works! roadmap.
If you have questions or want to learn more, please call 1-833-PTC-HOPE (1-833-782-4673) or email us at InsightfulMoments@ptcbio.com.