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Navigating the Uncharted: A Journey Through the Labyrinth of Rare Diseases with Sarah Marshall, MSW, Peer Co-Chair UDN

By December 5, 2023December 6th, 2023Blog, Uncategorized

In the vast expanse of the rare disease landscape, where uncertainty casts a shadow, our recent conversation with Sarah Marshall, MSW, Peer Co-Chair at the Undiagnosed Diseases Network (UDN), unfolded as an exploration of resilience, empowerment, and advocacy. Sarah’s journey, intricately told with personal triumphs and ongoing battles, serves as a testament to the resolute spirit that defines the rare disease community. 

As we delved into the intricacies of her experience, Sarah shared her perspective, “I think the labyrinth analogy gives me comfort because walking in a labyrinth is a lot of not knowing, not knowing when you’re going to get to the center or not knowing when there’s going to be a twist or a turn. But I believe that the center is there, and that, I think, gives me comfort.” 

Sarah’s initiation into the world of rare diseases was profoundly personal—a 10+ year odyssey with her daughter. The labyrinthine journey unfolded gradually, marked by relentless searches, emotional upheavals, and the overarching theme of the unknown. The diagnosis of the Loss Function variant of GDF11 came at the age of 13. It was partial, offering a glimpse into clarity while leaving vast territories uncharted. It was an entrance into a world where answers are elusive, and the journey is an ongoing exploration. 

Reflecting on this, Sarah shared, “I kind of tongue-in-cheek joke that I’m the expert in not knowing. I do think there’s some kind of – tons of expertise – around not knowing. In some ways, it’s kind of similar to how the COVID pandemic came to be. You know, society was kind of hysterical because no one knew. And I was like, this is what it’s like to have a rare disease or be undiagnosed.” 

In the realm of the rare and the unknown, Sarah Marshall finds solace in an unconventional yet profoundly resonant analogy—an analogy that encapsulates the essence of her role in the rare disease community. Through the lens of her experience and her dedication to the Undiagnosed Diseases Network (UDN), Sarah views herself not merely as an advocate but as a doula – of sorts. 

The doula, traditionally associated with childbirth, becomes a poignant metaphor for Sarah’s role. Like a doula supporting a birthing individual, Sarah extends her assistance and presence to those navigating the intricate paths of rare diseases. The essence of being a doula, as she articulates it, lies in holding space. It’s about creating an environment where individuals can introspect, identify their desires, and unveil their priorities amid the tumultuous journey of seeking a diagnosis. 

“As a doula, I held space for people to figure out, ‘Okay, what is it that I want? What is important?’ so that they can come out of that situation, a transformational experience, feeling empowered and feeling like they had a voice,” Sarah elaborates. The analogy beautifully captures the profound significance of providing unwavering support and understanding in times of uncertainty. It’s about fostering an environment where individuals can confront the complexities of their rare disease journey, discover their agency, and emerge transformed. 

The doula analogy not only speaks to Sarah’s personal philosophy but also reflects the broader narrative within the rare disease community. In a landscape characterized by ambiguity, the role of a guide, a supportive presence, becomes increasingly crucial. It’s an acknowledgment that the journey is as important as the destination, and the process of self-discovery holds the power to transform the rare disease narrative. 

Within this transformative journey, the theme of choice emerges as a pivotal element. Sarah draws poignant parallels with her personal birthing experience to illuminate the profound impact choices can wield in shaping one’s rare disease odyssey. Her articulation of having someone not just as an advocate but as an empowering force resonates deeply. 

In essence, Sarah’s role as a doula in the rare disease community unfolds as a narrative of empowerment, resilience, and transformation. It’s a reminder that advocacy is not solely about external representation but, more profoundly, about fostering an internal metamorphosis. As Sarah continues to navigate the labyrinth of rare diseases, her metaphorical doula presence echoes through the community—a source of strength, guidance, and unwavering support for those embarking on their own transformative journeys. 

The labyrinth analogy, a source of comfort for Sarah, paints a vivid picture of the rare disease journey. Much like navigating a labyrinth, the path is uncertain, with twists and turns aplenty. Yet, there’s a tangible framework, a belief that answers lie at the center. Sarah’s comfort in ‘not knowing,’ honed through a lifetime of navigating the unknowns of rare diseases, echoes a faith akin to walking through the labyrinth with the assurance that the center holds answers. 

For individuals traversing the labyrinth of rare diseases, self-care becomes not just a luxury but a necessity. Give an Hour provides valuable resources and self-care tips tailored to the nuanced needs of those navigating rare diseases – offering insights and strategies to navigate the complexities of the journey, while helping to manage the physical, emotional, and mental well-being.  

Venturing beyond the realms of personal narratives, our conversation with Sarah Marshall opened a window into her passionate advocacy for the rare disease community. A fervent advocate, Sarah dedicatedly delved into the complexities surrounding the FDA’s proposed policy change regarding lab-developed tests. Her discussion was not just a discourse on policy intricacies; it was a heartfelt call to action, an impassioned plea for awareness, and an urgent request for individuals to actively engage in the ongoing FDA comment period. 

The significance of advocacy, as Sarah articulated it, goes far beyond individual concerns—it’s a collective endeavor, a unified front amplifying the voices of those navigating the labyrinth of rare diseases. Her recent focus on the FDA’s proposed policy change is emblematic of a broader commitment to systemic change. Sarah exemplifies the idea that to advocate for the rare disease community is to advocate for a shift in the very structures that influence diagnosis, treatment, and overall support. 

In the multifaceted landscape of rare diseases, mental health emerges as a facet often obscured by the shadows of the physical manifestations of these conditions. Our conversation with Sarah shed light on this often-overlooked dimension, emphasizing the substantial challenges individuals face in seeking mental health support within the rare disease community. Sarah’s advocacy extends beyond conventional boundaries, urging for accessible resources and specialized professionals attuned to the unique needs of those grappling with chronic and rare diseases. 

“It’s hard to find a therapist that’s a good match for you anyway,” Sarah notes. Because the numbers right now are really startling—one therapist for every 350 individuals seeking care. The stark reality presented underscores the pressing need for a paradigm shift in mental health support within the rare disease landscape. It’s a call for increased awareness, de-stigmatization, and the establishment of resources that cater specifically to the intricate intersection of rare diseases and mental health. 

Sarah’s advocacy is a resounding testament to her commitment to holistic well-being within the rare disease community. By bringing to the forefront issues like FDA policies and mental health, she invites not just attention but active participation in the collective journey towards change. In her endeavors, advocacy becomes a bridge connecting individual struggles to broader systemic shifts—a bridge that, when fortified collectively, has the potential to transform the landscape of rare diseases, ensuring that no voice is left unheard and no aspect of health, be it physical or mental, is overlooked. 

Our conversation with Sarah Marshall unfolded not just as a reflection but as a tribute to her unwavering dedication. She stands not only as an advocate but as a beacon of resilience, hope, and empowerment in the rare disease community. This interaction serves as an invitation for all to join the odyssey through the labyrinth of rare diseases, where Sarah’s journey is a guiding light illuminating the path forward in a consistently changing environment.  

Ryan Young

Marketing & Social Media Manager