Sue Byrnes^1,2 Francis X. McCormack³

¹The LAM Foundation, Founder
²Cincinnati University, Faculty of Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Cincinnati, USA
³Cincinnati University, Faculty of Medicine, Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Cincinnati, USA

Byrnes S, McCormack FX. The LAM Story: From Grass Roots Patient Advocacy to an Effective Treatment. In: Altinisik G, McCormack FX, editors. Adopting Orphan Diseases: Rare Interstitial Lung Diseases. 1^st ed. Ankara: Türkiye Klinikleri; 2025. p.209-218.

ABSTRACT

Although this book chapter is framed under the title The LAM Story, its broader aim is to illuminate how physicians, scientists, patients, and their families can come together around a rare disease, uniting with the shared purpose of developing effective treatments and ultimately better survival. By tracing this journey, from the intimate beginnings of a unique personal story that sowed the first seed, to the collective endeavor of thousands joining hands, it seeks to inspire the emergence of similar narratives across other fields of medicine and beyond.

The opening of the chapter recounts the testimony of Sue Byrnes, who, beyond being the founder of the LAM Foundation, speaks as a mother and a caregiver who refused to surrender to despair. Her account portrays a figure who, while navigating paths previously unknown to her, had the courage to open doors, guide companions, and become a beacon of resilience. In doing so, her story reminds physicians, medical fellows, and scientists alike that their true domain is the human being. It brings science down from its above clouds abstraction to the lived realities of patients and their families, urging those engaged in research to recall for whom and toward what promises they dedicate their work.

The founding story of the LAM Foundation begins with a determination to draw attention of relevant institutions to the challenges faced by patients with rare diseases, particularly the consequences of lacking access to scientifically supported information on diagnosis, treatment, and prognosis. It conveys the psychological and social dimensions experienced by a patient, and her family, who suddenly find themselves confronted with a disease of difficult clinical course at a moment when they felt at their strongest. At the same time, the obstacles encountered on the path to diagnosis reflect circumstances that remain relevant for many rare diseases even today.

Rather than withdrawing from the struggle, the story demonstrates how taking the necessary steps one after another can yield consequences on the individual, patient-group, and societal levels. The establishment of a foundation where patients, their families, and physicians working in the field could come together, the support of research aimed at enabling effective treatments through the resources it generated, and the creation of opportunities for all members of the team to engage in scientific and social settings while learning from each other’s perspectives together offer a methodological model. This model, rooted in lived experience, presents an approach adaptable to diverse fields.

The second part of the chapter presents the reflections of Professor Francis X. McCormack, whose extensive contributions have shaped the field of rare interstitial lung diseases. Professor McCormack offers a historical overview of the scientific research that has carried this journey to the present day. The concluding epilogue resonates not only with physicians and scientists but also with decision-makers in the pharmaceutical industry, the third essential pillar in the search for therapies in rare diseases. In doing so, he underscores the shared responsibility of all stakeholders in healthcare systems, highlighting the profound significance of each step. Recent advances and future directions are also cited in relation to treatment options and organizational purposes.

Finally, by considering the human being, especially the patient and their loved ones, as a biopsychosocial whole, this part of the book brings together diverse perspectives. It invites readers to reflect upon their own stories and, in doing so, encourages them to take action.

Keywords: Rare interstitial lung diseases; Orphan diseases; Orphan drugs; Holistic approach; Lymphangioleiomyomatosis; Narrative medicine; Advocacy