Amplifying Patient Voices: The Key to Transforming Health Outcomes for Patients Who Suffer from Rare Diseases

Eslie Dennis, SVP, Chief Medical Officer at Kyowa Kirin, Inc.- U.S.

In the complex world of rare diseases, one voice often goes unheard – the patient’s. Patients are our greatest teachers, and hearing their experiences can often be game-changing.

At Kyowa Kirin, we believe in listening to the patient communities. For example, recently I attended the annual XLH Day conference, where patients shared their experiences living with X-linked hypophosphatemia (XLH), a rare, lifelong, progressive genetic disorder affecting skeletal and muscular health.

I was struck by the stories I heard, particularly among adults diagnosed at a time when knowledge of XLH was limited. Some were told it was a childhood disease and they would not have to deal with it once their growth plates fused. Today, the long-term impact of living with XLH is apparent physically and emotionally, conveyed through the honest and raw stories the attendees shared.

Loss of flexibility, impaired hearing, chronic pain and discomfort, significant dental issues—these are just a few of the themes I heard repeated throughout the conference. Adults spoke about the medical trauma they endured as children and the frustration they continue to feel today when searching for knowledgeable medical care. This is their way of life now.

The attendees’ stories bring to life recent findings from the XLH Community Impact Survey that revealed the wide-ranging impact of the disease on U.S. patient experiences including finances, daily activities, and mental health. In this research, which was a collaboration between Kyowa Kirin and The XLH Network, 87 participants completed an online survey (56 adults, 29 caregivers of children with XLH, and 2 children who responded for themselves), and 56 of these participated in a qualitative interview.

We shared a poster detailing findings from the survey on the impact of XLH on psychosocial health, symptoms, and self-care at the recent American Society for Bone and Mineral Research conference in Toronto. The data showed that the most impactful psychosocial issues for adults and children included pain, mental/emotional health, ability to fall/stay asleep, and, for children, medical trauma. 81% of adults and 35% of children reported at least some impact on self-care activities, activities that most of us take for granted, like getting dressed, putting on socks, tying shoelaces, doing housework and driving. This was just one out of nine studies shared by Kyowa Kirin at the meeting, all of which focused on advancing the understanding of XLH.

The insights we are in the process of gathering from the survey and from listening to patients and their caregivers provide a framework for patient-important research and educational initiatives, and make clear why the inclusion of what patients say matters:

• Lived Experience: No one understands a disease, especially a rare one, better than those living with it daily. Patients and their caregivers hold unique and invaluable insights into symptoms, treatment effects, and quality of life issues that may be missed in clinical settings.
• Holistic View: Rare diseases like XLH don’t just affect a particular organ or body system. They can impact many aspects of a person’s life including mental and emotional health, relationships, career choices, and daily activities. Patients and their caregivers provide a 360-degree view of the true nature of a disease’s impact.
• Research and Clinical Trials: Patients, especially for rare diseases, are the best experts to guide research agendas and the design of clinical trials to ensure their needs are incorporated.
• Improved Care Models: By understanding patients’ and their caregivers’ day-to-day challenges, we can develop more comprehensive and effective care plans and support services aligned with their real-world needs.

I feel privileged to have attended the XLH Day conference and to have spent time with this remarkable, warm, vibrant, welcoming and loving community that has built resilience earned from years of facing adversity. Together, the attendees created a community of hope and optimism focused on the future and on improving the experience for their children, future generations, and adults living with XLH. The community will work towards this goal through disease awareness, education, and advocating for research that helps to build greater understanding of XLH and its management.

When we listen to patients, remarkable things can happen. Let’s turn up the volume and amplify their voices. Let’s listen, learn, and transform health outcomes together!