A particularly impactful part of our Integrated Human Practices experience has been our collaboration with FSHD patients, which was possible through our collaboration with the FSHD Society.

In developing new therapeutics, it's vital to keep in mind the real-world impact on those the treatments are intended for. However, direct interaction with patients often gets overlooked in research, creating a disconnect between researchers and the people living with the condition. We wanted to bridge that gap and ensure that this disconnect didn’t affect our work on FSHD, and that patient perspectives played a central role in shaping our project. We also considered it crucial to give a face to the condition, understanding how differently FSHD is lived from person to person and expand our understanding of FSHD and its implications with empathy at the forefront.

As we began thinking about how to gather meaningful patient insights, we encountered several ethical implications. FSHD is a progressive condition that significantly affects individuals' lives, and reaching out to patients through clinical settings could involve discussing deeply personal and sensitive experiences. We realized that a direct approach might not be appropriate. Instead, we looked into networks that connect FSHD patients and advocates. Since our team member, Heloise, has been involved in FSHD activism, she connected us with the FSHD Society, the largest FSHD organization in the United States dedicated to providing support and advancing research for the FSHD community. Through this network, we connected with June Kinoshita, a respected advocate with a profound understanding of the challenges faced by FSHD patients. She introduced us to the network, and helped us setting the interviews and providing feedback to the questions we initially delineated.

We got a lot of engagement from the people in the FSHD network. Each one of our team members got the chance to speak to at least one patient, and we all found it pivotal to our research experience. These are the questions that guided most of our conversations:

[1] What stage were you diagnosed and what did it feel like to receive your diagnosis?
[2] What has your support system looked like throughout your diagnosis and treatment?
[3] What were the “next steps” made available to you after diagnosis? How easy did you find that process?
[4] Was this a conversation with your physician or did you investigate these options independently? If you independently investigated treatment options, what sources did you use for that?
[5] Did you feel that there was accessible information on FSHD?
[6] What do you envision your cure to be like?
[7] How do you manage your symptoms day-to-day? Are there specific strategies or tools that have been particularly helpful?
[8] What would you like people to understand about the experiences of FSHD patients?
[9] If you were able to share one thing with the research community regarding the needs of FSHD patients, what would it be?

We recognize that there is no way to begin to approximate the experiences of FSHD patients into a simple list of questions. We used these questions as conversation starters, yet encouraged the patients to expand on these questions as they saw fit.

Our team did not want to leave patient involvement in a one time Zoom call. At the end of every meeting, we asked if they would be willing to stay in the loop of our initiatives and other outreach activities. Most of them were very open to the possibility, and we are committed to keep engaging with the community to create intentional solutions.

Out of all the interviews, these are some of the main things that we learned from patients:
[1] Many patients reported feeling isolated and confused upon receiving their FSHD diagnosis. The emotional impact of the diagnosis is profound, often compounded by a lack of information and support from the healthcare system.
[2] There's a significant gap in awareness and understanding of FSHD among both the public and healthcare professionals. This lack of knowledge can lead to misdiagnosis or delayed diagnosis, affecting the quality of care and support patients receive.
[3] FSHD significantly impacts daily life, affecting everything from mobility to simple tasks around the home. But it does not end there: their capabilities can change from one day to another. Many patients spoke about the need to adapt their living spaces and routines to manage their symptoms better. Because of this lack of help, patients expressed their frustration regarding the general lack of effective treatment options and the heavy reliance on self-managed care, which can be both physically and mentally exhausting. Accessible and practical treatment options that don’t solely rely on patient self-motivation are needed.
[4] The slow and progressive nature of FSHD leads to a significant yet overlooked psychological burden. Patients often experience depression and a profound sense of loss as they adjust to the gradual decline in their physical abilities.
[5] Patients wish for more inclusive research practices that consider the wide variability in FSHD symptoms and progression. They hope for research that translates into real-world benefits, emphasizing the need for treatments that are not only theoretically effective but also practical and accessible.

Through our partnership with the FSHD Society and direct engagement with patients, our team has gained invaluable insights that underscore the complex and varied nature of FSHD. This experience has deeply enriched our project, grounding it in the real and diverse experiences of those it aims to benefit.
Our conversations revealed not only the physical and psychological challenges faced by patients but also highlighted the resilience and community spirit within the FSHD population. The ethical considerations in our approach ensured that we engaged with patients respectfully and effectively, allowing us to truly listen and respond to their needs and concerns.

Moving forward, our project is committed to maintaining this connection with the FSHD community, ensuring that their voices continue to shape our research and development efforts. We aim to translate these insights into therapies that are not only scientifically sound but also genuinely responsive to the needs of those living with FSHD. This ongoing dialogue with the FSHD community stands as a testament to our commitment to developing patient-centered solutions and fostering a deeper understanding of the human impact of our scientific endeavors.