The Patient Advocacy Initiative is proud to offer a variety of ways students can gain hands-on, real-world experience working with rare disease patients, their families, and the organizations that support them. The Summer Immersion Grant Program, funded by Ms. Laura Schumacher as part of the broader Patient Partnership Program, awards students with summer grant funding to work directly with a patient advocacy organization in order to gain immersive experience, while also providing a benefit to the partnering organization. The Initiative provides funding for the student's stipend, and the organization provides all summer mentorship and engagement. In this edition of Advocacy in Action, current senior Rowan McDonnell shares his unique experience in the program, and the insights he gained working with Lipodystrophy United.
Advocacy in Action: I'll Never Forget Your Story
"This summer, I interned with Lipodystrophy United (LU). LU is a patient advocacy organization that supports the lipodystrophy community through comprehensive, multi-faceted programming that addresses both the educational and psychosocial needs of individuals living with the progressive, multi-system, and commonly misunderstood rare disease. As part of my work, I had the privilege to attend the global Endocrinology Conference (ENDO) where I spoke with clinicians, researchers, and other medical professionals interested in the information–or merchandise–our booth had to offer. We heard a range of responses. Though some professionals insisted that they had never seen or would never see a patient with lipodystrophy due to its rarity, many more were curious about the disease, recounted patients with similar presentations, or asked specific questions about treatment and support. After weeks of reviewing clinical trials, assisting with projects regarding LU’s educational materials, and researching the differences between lipodystrophy and its common misdiagnoses, I had my first opportunity to educate endocrinologists, nurse practitioners, and researchers. However, it was the LU team who brought these answers and the disease to life. They responded personally, sharing their experiences with the disease, detailing their journey to diagnosis, and, from one young resident, evoking the powerful promise, “I will never forget your story.”
Lipodystrophy is characterized by an abnormal distribution of subcutaneous fat, or adipose tissue. This dysregulation of fat tissue can present as near-total body fat loss, as progressive and selective loss of subcutaneous fat, or arise during one’s lifetime often due to severe illness. Without normal adipose tissue, fat can build up in the bloodstream and vital organs like the heart, liver, kidneys, and pancreas causing comorbidities such as severe insulin resistance, uncontrollable diabetes, liver disease, reproductive issues, cardiovascular complications, and pancreatitis. In addition, patients often face significant fatigue, chronic pain, and struggles with mental health and body image.
I was able to scientifically reason through the above description after about a week of working with LU where I was reading through and organizing research papers, expert lectures, and clinical trials. Understanding the human burden behind the diagnosis, however, has been an ongoing process of hearing unforgettable patient stories. These stories were what originally drew me to the Minor in Science and Patient Advocacy, and I looked forward to even more conversations with patients and caregivers through this internship. After traveling to ENDO, I attended a family day for patients and caregivers at the University of Michigan, one of the main centers for lipodystrophy care and research. At our picnic, I was able to talk with patients and their families. Though conversations shifted between typical topics, the shared experience with lipodystrophy was the undercurrent present in them all: challenges managing treatment, changes in nutrition, and chronic pain and fatigue that may interrupt, but not stop, their summer goals. Another common thread was the drive to grow knowledge and awareness surrounding lipodystrophy. I spoke with people who expressed their willingness to stay involved in cumbersome clinical studies to generate more data for future generations, demonstrated excitement toward new updates in treatment and advocacy, and saved photos of themselves to share with physicians and other parties who may benefit from a visual presentation.
This summer revealed the power and importance of patient voices within their disease spaces to shape research, care, and advocacy. I am very grateful to have contributed to two LU projects centered on that mission. The first project involved researching the endpoints of clinical studies on lipodystrophy for comparison with the reported burden of the disease from conversations with and data collected from patients. We found that the burdens of patients often do not match what researchers measure. I will present this disconnect to researchers and clinicians on LU’s advisory board, aiming to increase the inclusion of patient-reported outcomes and treatment burden considerations within studies and assist LU in the development of their own patient registry. The second project has involved writing a letter of intent to the FDA in order to host an externally-led patient focused drug development (EL-PFDD) meeting. These meetings empower patients to share their stories directly with regulators, with testimonies being compiled into a “Voice of the Patient Report” that is publicized on the FDA’s website.
These projects reminded me how easily the human experience can be lost in the scientific process. Advocacy requires amplifying the lived experiences of those affected. Patient voices play a crucial and consequential role in rare disease spaces from aligning research with their reality and shifting pharmaceutical development to address the true burden of their disease. With years of hard work, LU stands as a testament to the positive effects that are possible in research and care when advocacy leads, accessing platforms on which to spread awareness and developing relationships with medical professionals who are willing to listen. The necessity of patient voices and impact of sharing patient stories became clear throughout my summer with LU. However, it was clearest in the simple meeting of the young resident who allowed himself to be moved from the story of a physician with lipodystrophy. His vow – “I will never forget your story” – holds the promise of a future physician able to recognize and diagnose the condition that is so often unknown or overlooked.
In this exciting time of medical advancement and rare disease advocacy, I hope to see that all areas of medicine, from basic science to pharmaceutical development to treatment and care, continue to implement systems where patient voices are integral and not forgotten. Thank you to the Patient Advocacy Initiative and Ms. Laura Schumacher for supporting this immersive internship and to Kate, Sharon, Andra and Francesca at Lipodystrophy United for an amazing mentorship. I will never forget my summer with LU and my experiences with its members, and I look forward to continued engagement with their organization as well as more unforgettable stories from patients." - Rowan McDonnell, Class of 2026
Advocacy in Action is a guest-authored reflection series from the Patient Advocacy Initiative that highlights how students are putting advocacy into practice beyond the classroom. Whether leading volunteer teams, building partnerships, or creating new resources, these stories showcase the impact students and alumni are making, and the lessons they’re learning along the way.