The Fight for Progress: Women Leading the Charge in Rare Disease Advocacy

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At SXSW 2025, a panel of female leaders explored the systemic challenges in rare disease research and how advocacy is reshaping the path to treatment.

For the 400 million people worldwide living with a rare disease, securing a diagnosis and accessing treatment remains an uphill battle. With fewer than 5% of rare diseases having an FDA-approved treatment, the journey to medical recognition often begins in frustration—repeated doctor visits, misdiagnoses, and systemic inertia that fails to prioritize conditions affecting small patient populations.

At SXSW 2025, an expert panel moderated by journalist Katie Couric brought together four women driving change in rare disease advocacy:

• Tania Simoncelli, Vice President of Science and Society at the Chan Zuckerberg Initiative

• Tara Zier, Founder and CEO of The Stiff Person Syndrome Research Foundation

• Christina Miyake, Director of the Genetics Arrhythmia Program at Baylor College of Medicine

• Susan Dando, Executive Director of the Smith-Kingsmore Syndrome Foundation

Their discussion underscored the resilience required to navigate the healthcare system and highlighted how patient-driven research, AI, and innovative funding models are accelerating progress in a field that has long struggled for attention.

A Broken Diagnostic System

For many living with a rare disease, the road to diagnosis is a battle against medical neglect. Symptoms are often dismissed or misattributed, particularly for women, whose health concerns are more frequently labeled as stress-related. The experience of Tara Zier, who suffers from Stiff Person Syndrome (SPS), illustrates this reality. It took 13 emergency room visits before she was correctly diagnosed, a journey prolonged by skepticism from medical professionals.

This pattern is not uncommon. Families often spend years searching for answers, with some only finding them through self-funded genetic testing rather than formal medical guidance. Susan Dando, whose daughter was diagnosed with Smith-Kingsmore Syndrome (SKS), recounted a similar experience. Despite persistent developmental challenges, medical professionals routinely dismissed her concerns, delaying intervention and access to appropriate care.

The lack of recognition for rare diseases has left patients and advocacy groups to fill the void. Without institutional backing, organizations like the Chan Zuckerberg Initiative’s Rare as One project have stepped in to build clinical registries, fund research, and connect patient communities, doing the work typically undertaken by national health bodies.

AI and the Search for Treatments

While the medical establishment has been slow to adapt, technology is beginning to transform rare disease research. The application of artificial intelligence (AI) in diagnostics is shortening the path to identification, replacing the traditional six-to-eight-year journey with predictive models that can pinpoint conditions in months, or even weeks.

Beyond diagnosis, AI is also proving critical in drug repurposing—the process of identifying existing FDA-approved drugs that could be used to treat conditions they were never originally designed for. With over 3,000 approved drugs on the market, the potential to repurpose medications could be transformative.

A case in point is Tango2 Deficiency Disorder, a rare genetic condition affecting neurological and cardiac function. Research led by Dr. Christina Miyake uncovered a surprising but effective intervention—high doses of B vitamins—which has drastically improved survival rates for affected children. While serendipitous, discoveries like these are now being accelerated by AI, which can analyze genetic markers and pharmaceutical interactions at a scale far beyond human capability.

The implications are profound. Instead of waiting years for new drugs to be developed, AI could help researchers identify viable treatments from existing compounds in a fraction of the time.

The Funding Gap in Rare Disease Research

Despite these scientific advancements, funding remains the largest obstacle. The National Institutes of Health (NIH) continues to prioritize research for more common conditions, leaving rare diseases dependent on private foundations, patient fundraising, and philanthropy.

The challenge is compounded by a catch-22: without initial research data, securing major grants is nearly impossible. Yet without funding, generating that research is equally difficult. Many advocacy groups resort to grassroots fundraising efforts—everything from community events to private donations—to sustain projects long enough to attract institutional investment.

Dando’s foundation, for instance, spent years raising small community donations before accumulating enough research to justify a formal grant application. Even then, funding continuity remains uncertain, with researchers often operating under the constant risk of project shutdowns due to resource depletion.

To bridge this gap, venture philanthropy models—where organizations provide both capital and strategic guidance—are gaining traction. The Chan Zuckerberg Initiative, for example, is pioneering programs that not only offer financial support but also train advocacy groups in research development, policy engagement, and data-sharing collaborations.

The Emotional and Economic Toll on Women

Beyond the scientific and financial hurdles, the personal toll of rare disease is immense, particularly for female caregivers, who bear a disproportionate share of the burden.

For Zier, the pressure of navigating a complex and often indifferent healthcare system while managing her own chronic condition and raising children was overwhelming. The strain extended beyond health—it became a financial and emotional crisis as well.

Caregivers of rare disease patients frequently sacrifice careers, financial security, and mental well-being in pursuit of answers. Many, like Dando, acknowledge that their primary concern isn’t even finding a cure—but ensuring financial stability for their children after they are gone.

This underscores a broader issue: rare diseases are not just a medical challenge but an economic and gendered one. Without systemic reform, families will continue shouldering the burden alone, making advocacy groups the only lifeline for many patients.

A Path Forward: Collaboration, Investment, and Systemic Change

Despite the challenges, the momentum for change is building. Advances in AI, the growing visibility of patient advocacy, and early successes in drug repurposing are shifting perceptions about what is possible.

The next decade will be shaped by:
✔ AI-driven diagnostics, reducing the time to diagnosis from years to months.
✔ New drug repurposing pipelines, leveraging existing medications for rare disease treatment.
✔ Stronger patient advocacy networks, pushing for funding, policy reform, and scientific collaboration.

The panelists agreed that the fight for rare disease recognition is winnable—but only if governments, researchers, and advocacy groups commit to treating it with the urgency it deserves.

For millions around the world, that shift can’t come soon enough.

Final Thought

Rare diseases represent one of medicine’s final frontiers. While AI, funding, and advocacy efforts are accelerating progress, systemic reform is still needed to match the urgency of the crisis. The question remains: Will policymakers and researchers respond fast enough?

Disclaimer: The above podcast episode was generated using AI based on an interview transcript. While the content remains true to the original conversation, the voices, tone, and delivery were synthesized and do not represent actual recordings of the speakers. This AI-generated format is intended to enhance accessibility and provide an alternative way to engage with the discussion.

Stay tuned—this year’s event continues to shape up to be even bigger!

See you tomorrow,
The Unofficially SXSW Team

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