For Brooke Borton, advocacy began with a deeply personal motivation: supporting her cousin after a rare disease diagnosis. That experience sparked interest to better understand rare diseases, and support others facing similar challenges through her studies at Notre Dame. What started as an educational interest quickly grew into a deeper calling. Through the Minor in Science and Patient Advocacy, Brooke became a Peer Leader, immersed herself in nonprofit work through a partnership with the LHON Collective, and helped organize campus-wide events like the Patient Advocacy Summit and Rare Disease Day. Her reflection in this edition of Beyond the Minor captures the lessons she’s learned about accessibility, community, and how small beginnings, like a single story or shared conversation, can inspire lasting change.
Beyond the MSPA: From Small Beginnings to Big Impacts
"At two years old, my cousin was diagnosed with a rare disease, fanconi anemia. I witnessed the struggles she and her family faced throughout her diagnostic odyssey and treatment journey. Wanting to support her in some shape or form, I searched for a way in which I could educate myself about rare diseases. A unique opportunity presented itself to me– my organic chemistry lab teaching assistant informed me about her minor, which focused entirely on the education and advocacy of rare diseases. Eager to jump on this opportunity, I connected with Professor Barbara Calhoun and Program Manager Katrina Conrad. During my onboarding meeting, I instantly felt welcomed. They made it clear to me that they seek students who want to be actively involved both in and out of the classroom. The annual Rare Disease Day, the Patient Advocacy Summit, nonprofit and biotechnology internships, and patient partnerships were just a few of the opportunities that excited me. After completing the coursework and taking full advantage of these extracurricular opportunities, I am confident in saying that joining the Minor in Science and Patient Advocacy has been one of the best decisions that I have made during my time at Notre Dame.
As a Peer Leader for the Minor in Science and Patient Advocacy for two consecutive years, I led various projects and campus events to increase awareness about rare diseases as well as the minor. Last summer, I was also an inaugural Schumacher Summer Immersion Grant recipient, which funded my work with a nonprofit called Leber’s Hereditary Optic Neuropathy (LHON) Collective. During my internship with LHON Collective, I gained hands-on experience in rare disease advocacy, accessibility efforts, and community engagement. At the 2024 United Mitochondrial Disease Foundation in Cleveland, Ohio, I played an integral role in coordinating event logistics. Technical support included creating and formatting presentations, ensuring slides and PDFs were accessible to visually-impaired individuals, generating social media content, running microphones, and overseeing zoom recordings in collaboration with the Hilton Cleveland Downtown audio/video team. Additionally, I ensured that all participants felt welcomed, especially solo travelers. The LHON community is incredibly close-knit, and I loved meeting every single attendee. Each person had a unique story, yet they all shared common themes of optimism and resilience. To progress research on neuro-ophthalmologic diseases, I updated the Harvard Brain Tissue Resource Center (HBTRC) donation brochure to include the eye and optic nerve in brain donations. With the support of a RARE Mental Health Grant from Global Genes, I wrote the introduction and conclusion for an LHON-specific mental health pamphlet and generated AI images for each persona of someone affected by LHON. By the end of the internship, I deepened my understanding in rare disease advocacy, accessibility efforts, and community engagement, as well as the importance of mental health within the space. I even spoke on a panel at the 2024 Patient Advocacy Summit at Notre Dame, highlighting what I learned about LHON and the rare disease community.
It is my dream to attend medical school and become a doctor. The Minor in Science and Patient Advocacy has deeply influenced how I will interact with my patients, conduct research, and approach my studies, and I feel confident that it has shaped me into a better provider and person. I learned how important it is to truly listen to a patient’s concerns, as many have dealt with dismissive providers. I wish to bring relief and hope, not frustration. I learned how important it is to be inclusive of those who are different from you. If someone has experienced vision loss, you may direct them by saying, “The door is at your 3 o’clock,” rather than, “It’s over there.” If someone uses a wheelchair, you may help them map out an accessible route in an area that’s familiar to you. However, I would like to note that I did not automatically know these things. I was corrected, I asked questions, and I was responsive to feedback. I learned that you never have the right to assume a person’s life experiences. Someone’s rare disease diagnosis may have been the most devastating news of their life, or it may have only been a bump in the road. If you feel prompted, ask them to share their story. Human connection is powerful, and you might learn a thing or two. Most importantly, I learned that patient advocacy is impactful. I have witnessed how this initiative has brought together patients, clinicians, researchers, educators, businesses, and the government. Many of my friends who have graduated from this minor have gone on to pursue graduate programs in medicine, dentistry, pharmacy, genetic counseling, clinical research, the biotechnology industry, and more. Rare disease advocacy can happen anywhere, not just in medicine.
As I reflect upon my advocacy journey, the parable of the mustard seed comes to mind. Matthew 13:31-32 reads, “The Kingdom of Heaven is like a grain of mustard seed, which a man took, and sowed in his field; which indeed is smaller than all seeds but when it is grown, it is greater than the herbs and becomes a tree, so that the birds of the air come and lodge in its branches.” These verses serve as a powerful reminder that even the smallest beginnings can grow into powerful forces for change. The rarity of diseases contributes to a significant lack of knowledge, and as a result, research and treatment options are often limited relative to more prevalent conditions. Despite this, the people that I have met in the rare community are some of the most resilient and inspiring people I have ever met. Their passion is evident: one patient advocate started a company to research a cure to a rare disease, another patient advocate is pushing legislation to include a rare disease on newborn screening panels, and another started a nonprofit to share the most up-to-date information on clinical trials and to provide connection within their community. These are all incredible initiatives, but they can seem daunting at first, especially to someone who is new to the world of rare diseases. To first become a patient advocate, you must start small, like the mustard seed. Educating yourself and taking classes about patient advocacy is the first step. Then, you can sow the seed through extracurricular opportunities within the Patient Advocacy Initiative. Hopefully, by the time you graduate, you will witness the fruits of your labor– making a difference in the lives of those with rare diseases. The classwork, leadership opportunities, and non-profit work I have engaged in will affect every aspect of my professional and personal life. By joining the Minor in Science and Patient Advocacy, you just might make the best decision during your time at Notre Dame." - Brooke Borton, Class of 2025
Beyond the Minor is a guest-authored reflection series from the Patient Advocacy Initiative that highlights the experiences, growth, and impact of current students and alumni. From classroom insights to community engagement, these reflections capture the many ways students carry their advocacy forward - in their own voices.