400 Million Voices: What Rare Disease Day Taught Us This Year

Rare Disease Day 2026: Highlights and insights from the Boston Globe’s Rare Disease Summit

Every year, on February 28, we recognize Rare Disease Day. This globally coordinated movement is dedicated to raising awareness about Rare Disease Day and generating change for the more than 400 million people worldwide living with a rare disease, their families, and their caregivers.

Joanna, SimpliHere’s founder and CEO, attended the virtual Boston Globe’s Rare Disease Summit to learn more about efforts underway to improve equity in social opportunities, healthcare, and access to diagnosis, and the development of therapies for people living with a rare disease (RD). This month for Rare Disease Day, we are sharing some of Joanna’s top sessions and takeaways from the day of learning and sharing.

This Rare Disease Day reminds us of the urgent need for continued progress and attention for those affected by rare diseases.

The Urgency

Joanna first heard opening remarks by Scott Weintraub, Head of U.S. Business for biopharmaceutical company, Alexion, an AstraZeneca subsidiary focused on developing cures for RDs. Weintraub shared that of the 400 million people worldwide living with RD, 30 million live in the U.S., and that of the more than 10,000 RDs we know about, fewer than 10% have FDA-approved treatments. It takes the average patient more than five years to achieve an accurate diagnosis, often only after multiple misdiagnoses.

On Rare Disease Day, we highlight the importance of innovation and support for rare disease patients.

At the same time, Weintraub said, innovation is accelerating, thanks the power of genetics, AI, and gene and cell therapy—and it is time for regulatory policy and access to begin to keep pace. In Greater Boston, where SimpliHere is based, the life sciences ecosystem includes more than 1,700 biopharmaceutical companies and globally renowned academic research institutions that care for many RD patients and this positions the region as a global leader. Public-private partnerships, including initiatives like the Mass Leads Act, signal long-term investment in innovation and equity.

Leveraging Experience

Joanna attended a powerful panel discussion about how lived experience with RD often results in professional pursuit, and how closing the knowledge gap in RD may be the highest-leverage intervention. The panel comprised of John Luca Pirozzi, SVP & Head of Development of Regulatory & Safety at Alexion and parent of a daughter with a rare disease; MacKenzie Boedeker, who was diagnosed with amyloidosis while pursuing a career in medicine; and Deb Boedeker, her mother and caregiver, who realized that she could leverage her long career in business to co-found, with MacKenzie, MacKenzie’s Mission, which raises funds to address awareness and medical educational gaps in amyloidosis.

Panelists shared that, while early diagnosis and treatment directly impact quality of life, limited provider awareness of “zebra” RDs delays diagnosis. Education gaps among all frontline practitioners, not just physicians, must be addressed. The discussion also centered on how lived experience can drive system change—and emphasized how caregiver skillsets are powerful assets when redirected into the RD ecosystem.

As a former caregiver of someone with RD and SimpliHere founder, Joanna found this part of the panel discussion particularly activating. RDs are long, and caregivers who feel isolated and exhausted must remember that they are not alone, and that even one person can create change.

Rare Disease Day serves as a reminder that caregivers play a vital role in advocacy for rare disease awareness.

The panel encouraged caregivers to take on an active role in making a difference in RD by being involved support groups, clinical trial scheduling, measuring fatigue, tracking school days/workdays missed, and being honest about caregiver burden. Caregivers can also play an active role in sharing data securely across advocacy groups and in their patient’s clinical setting.

Breaking the Silence

Joanna also found a panel discussion on mental health and stigma in RD, featuring moderator Stuart Seidman, RD patient and VP of Patient Advocacy, Chiesi Global Rare Diseases, and featuring panelists Jill Pollander (NORD) and Ken Duckworth (NAMI). They discussed the mental health journey of RD patients and their families, from “diagnosis shock,” to loss of function, pressures in medical decision making, guilt, anxiety, isolation, stigma, and types of grief.

Understanding mental health in the context of rare diseases is critical, especially on Rare Disease Day.

While there are now treatments for many RD physical symptoms, mental health care remains largely unaddressed. The group emphasized that whole-patient care must include psychological and emotional dimensions, be discussed routinely, and be part of standard care—not an optional add-on.

Joanna especially appreciated the group’s shared information about collaborations already underway to curate practical mental health resources for the RD community, including those provided through the nonprofit National Organization for Rare Disorders, known as NORD.

Joanna also appreciated the group’s emphasis on caregiver burnout, and framing of self-care and self-advocacy as creating sustainability vs. behaving selfishly, and about the experience of unaffected siblings, who often feel ignored as their family’s resources and attention flow toward the medically fragile child. They encourage caregivers and family members to be open to mental health storytelling and to sharing their lived experiences, as public sharing reduces isolation.     

The Next Generation

Joanna also attended a session highlighting young, up-and-coming patient-advocates, researchers, and entrepreneurs entering the rare disease space early—and not waiting for permission. The panel discussed how lived experience can catalyze a lifelong pursuit of answers in RD and sharpen research questions.

These new advocates will shape the future of rare disease research, especially as we celebrate Rare Disease Day.

Moderated by Marianne Wolf of the Boston Globe, panelists included Daria Drajkovic, a PhD candidate whose research focuses on communication in neurological disorders; Sydney Reredu, a senior at Harvard University volunteering and conducting RD research with Mass General’s XDP Center; and Olaide Adambi Koger, a former researcher whose experience living with sickle cell disease (SCD) led to her leadership as an advocate and member of the Massachusetts Rare Disease Advisory Council and to a new venture exploring ultrasound therapy for SCD pain.

This session explored how in childhood, RD care is more supportive and accessible, but, as patients enter adulthood, stigma, the loss of the presence of family advocates, and assumptions (such as the assumption that an RD patient is just drug-seeking) enter the clinical picture. The group discussed the need for transition planning to be embedded in pediatric systems, and greater emphasis needs to be placed on independence and autonomy support.

Younger generations in RD are more willing to take risks, challenge systems, and launch ventures and leverage social media to build community, recruit for clinical trials, accelerate fundraising, and connect patients globally around rare and ultra-rare conditions. “What a 19-year-old is yelling about today may save millions tomorrow,” the group shared.

Aggregation transforms individual voices into actionable signals for researchers, policymakers, and clinicians. A step we can all take in the RD community is to get involved in online groups, community-based organizations, state advisory councils, and condition-specific nonprofits, and be courageous in sharing our stories to make our collective voices heard!

On Rare Disease Day, let’s amplify our efforts to support all individuals affected by rare diseases.

Recognizing that not everyone—especially caregivers and patients—is able to make the time to participate in a virtual summit discussing rare diseases, Joanna is happy to share this recap of an energizing day and experience with our SimpliHere community. You can watch individual session recordings on the Boston Globe Events’ YouTube channel, as well. We hope you found Joanna’s highlights helpful and that you connected with new information, resources, inspiration, and guidance—and we hope you’ll be able to join the summit in a future year!  

We encourage everyone to participate in activities surrounding Rare Disease Day, raising awareness and support.

About SimpliHere

The mission of SimpliHere is to ensure efficient care and peace of mind for caregivers and their patients with neurological conditions that impact communication and mobility. Joanna Rosenberg founded SimpliHere to address communication gaps between caregivers and patients. Her personal experience when her mother lived with ALS exposed the challenges of communicating and understanding basic needs, as well as managing daily tasks. Download SimpliHere today or subscribe to the Compass blog to help you navigate caregiving and learn from other community members who have been in your shoes.

SimpliHere is committed to enhancing the lives of those affected by rare diseases, especially in honor of Rare Disease Day.