{"id":17928,"date":"2026-02-20T09:32:57","date_gmt":"2026-02-20T14:32:57","guid":{"rendered":"https:\/\/www.ptcbio.com\/?p=17928"},"modified":"2026-02-20T09:32:59","modified_gmt":"2026-02-20T14:32:59","slug":"listening-first-what-weve-learned-from-the-rare-disease-community","status":"publish","type":"post","link":"https:\/\/www.ptcbio.com\/posts\/listening-first-what-weve-learned-from-the-rare-disease-community\/","title":{"rendered":"Listening First: What We’ve Learned from the Rare Disease Community"},"content":{"rendered":"\n

In rare disease, progress starts with listening.<\/p>\n\n\n\n

Rare Disease Day is an opportunity to recognize the millions of people worldwide living with rare conditions \u2014 and to reflect on what it truly means to support them. At PTC, support and meaningful impact begins by listening to the people who live this reality every day.<\/p>\n\n\n\n

It\u2019s those who are impacted by rare diseases who know firsthand the realities of living with a rare disease. They understand the day-to-day impact of symptoms, the emotional weight of uncertainty and the challenges of navigating care. They are the experts, and so it\u2019s essential we listen with purpose \u2013 not as a formality, but as commitment.<\/p>\n\n\n\n

Listening Throughout the Rare Disease Journey<\/strong><\/p>\n\n\n\n

\u201cWe continually listen by staying connected with the community \u2013 we attend events, seek feedback through patient advisory boards, host and participate in community conversations, and involve people from the rare disease community every step of the way,\u201d says Malisa Rust, Patient Engagement Liaison.<\/p>\n\n\n\n

Part of our listening process is to incorporate their needs early on in the process \u2013 from the beginning stages of research and development and clinical trials.<\/p>\n\n\n\n

\u201cThe patient voice is a key foundation piece in designing and executing clinical trials,\u201d says Anne Bruns, Executive Director, Patient Engagement, Neurology. \u201cBy incorporating their experience and knowledge, they help ensure that what we are developing is not only scientifically meaningful but important to the individuals and families we are here to support.\u201d<\/p>\n\n\n\n

Anne continues \u201cBy listening directly to patients and caregivers, we gain critical insight into daily disease burden, unmet needs, and the outcomes that truly matter in their lives. These perspectives can influence everything from endpoint selection and protocol design to visit schedules and trial accessibility. When we understand what participation feels like from the patient\u2019s point of view, we can reduce unnecessary burden and create studies that are more inclusive and feasible.\u201d<\/p>\n\n\n\n

The listening doesn\u2019t stop there \u2013 voices are incorporated through to commercialization and support programs.<\/p>\n\n\n\n

\u201cWe continue to engage with patients and caregivers well into their treatment journeys and bring their insights back to the teams to take into consideration for lifecycle management, development of tools and resources to support patients,\u201d says Mary Frances Harmon, SVP, Corporate & Patient Relations.<\/p>\n\n\n\n

Long-term Listening<\/strong><\/p>\n\n\n\n

For us, listening is not a one-time activity but rather an ongoing responsibility. We call it \u201clong-term listening\u201d \u2013 a commitment foundational to PTC. It\u2019s through purposeful listening that we\u2019ve learned so much about the rare disease community and how we can best serve them.<\/p>\n\n\n\n

For example, our Navigating PKU programs were built based on community listening sessions. Their feedback told us the programs they most wanted to see, and we created the programs to meet their needs. As we continuously listen, we adapt and reshape the programs based on the voices of the community. <\/p>\n\n\n\n

\u201cThe most important piece of including their voice is that it reminds us that behind every data point is a person, a family, and a community placing trust in us,\u201d says Anne. \u201cTheir experiences are there to ground our work in purpose and urgency. Integrating their voices early and continuously strengthens not only the quality of our trials, but also our accountability to deliver therapies that make a meaningful difference.\u201d<\/p>\n\n\n\n

Lessons Learned<\/strong><\/p>\n\n\n\n

The rare disease community has taught us that progress is not only measured in scientific milestones. It\u2019s also measured in feeling seen, respected and included in the process.<\/p>\n\n\n\n

\u201cOne lesson that the rare disease community has taught me is to meet people where they are at \u2013 emotionally, physically, or wherever they are in their journey,\u201d says Malisa. \u201cThis core value is not only brought to my work at PTC, but throughout my life. I have met so many people who wear multiple hats \u2013 living with a rare disease, acting as a caregiver, managing a full-time job or school, being a patient advocate, and more.\u201d<\/p>\n\n\n\n

Malisa continues: \u201cEvery individual we connect with has something going on. We don\u2019t know what\u2019s past the smile or the tears. It\u2019s important for me to respond with empathy, adapt to the individuals I meet, acknowledge where they are on their journey and support them at their pace.\u201d<\/p>\n\n\n\n

\u201cThe lessons that rare disease communities teach are many, but the biggest one is to never give up,\u201d says Mary Frances Harmon. \u201cDrug development is tough. There are a lot of steps forward and many steps backwards. But this community never gives up hope. They never give up persevering. And it has taught us as a company to never give up either.\u201d<\/p>\n\n\n\n

These lessons continue to shape how we approach our work with the rare disease community. At PTC, we remain committed to listening first, to learning from lived experience and to working alongside the rare disease community with respect, transparency and care \u2014 on Rare Disease Day and every day.<\/p>\n","protected":false},"excerpt":{"rendered":"

In rare disease, progress starts with listening. Rare Disease Day is an opportunity to recognize the millions of people worldwide living with rare conditions \u2014 and to reflect on what it truly means to support them. At PTC, support and meaningful impact begins by listening to the people who live this reality every day. It\u2019s those who are…<\/p>\n","protected":false},"author":14,"featured_media":17927,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[19],"tags":[],"media-type":[5],"therapeutic-area":[],"class_list":["post-17928","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-disease-community"],"acf":[],"yoast_head":"\nListening First: What We've Learned from the Rare Disease Community - PTC Therapeutics (United States)<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ptcbio.com\/posts\/listening-first-what-weve-learned-from-the-rare-disease-community\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Listening First: What We've Learned from the Rare Disease Community\" \/>\n<meta property=\"og:description\" content=\"In rare disease, progress starts with listening. 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