Patient Advocacy in Rare Sinonasal and Skull Base Tumors?

• Community Conferences: Bring patients, caregivers, clinicians, and researchers together, often alongside research workshops, to foster mutual understanding.

• International Outreach: Ambassadors in multiple countries, translated educational materials, and online community platforms ensure global accessibility. SMARCB1 Hope

• Patient Support and Navigation: Provides newly diagnosed patients with clear information, emotional support, and referral to research centers with expertise.

• Research Facilitation: Organized an international symposium in 2023 gathering 30 researchers from multiple SMARCB1 tumor subtypes to explore shared biology (epigenetics, chromatin remodeling) and cross-tumor therapeutic approaches.

• Community Building: Connects patients globally, fosters collaborations between research teams, and promotes awareness campaigns, including patient stories and forthcoming documentaries.

• Strategic Partnerships: Cassie and Jean-Baptiste recently launched the Ella Toulouse Foundation for Adolescent and Young Adult Cancers under the aegis of the ARC Foundation. By broadening their scope and working with this big cancer organization widely known in France, they aim to attract more attention to solid tumors with epigenetic mechanisms and leverage ARC’s scientific review committee and funding power.

The “Secret Sauce” of Effective Advocacy

When asked why their organizations succeeded where others have struggled, leaders from both organizations pointed to deep patient focus as the central factor.

The Chordoma Foundation works to bring together nearly every patient and family affected. The result is a close-knit, highly engaged community where patients feel genuine ownership of the mission—and where many of the largest donors began as service users.

SMARCB1 Hope credits persistence, relationship building with key researchers, and willingness to adapt scope without losing identity. They stress that effective advocacy requires readiness for a decades-long commitment, strategic use of limited funds, and humility to keep the mission above personal ego.

Both groups emphasize that advocacy is not simply “raising awareness,” but is sustained, strategic work to connect the right people, push promising research forward, and ensure that patients are informed and supported from diagnosis onward.

What Otolaryngologists Should Know—and Do

While otolaryngologists may only encounter a handful of these rare tumors in their careers, they play a pivotal role in initiating connections that can change patient trajectories.

Key Takeaways for Clinicians:

• It matters where the patient is treated—For both chordoma and SMARCB1-deficient sinonasal carcinoma, surgical expertise, radiation modality, and multidisciplinary coordination can significantly affect outcomes. Early referral to centers with demonstrated experience is critical.
• Encourage second opinions—Especially for rare cancers, patients often enter a treatment “funnel” that is hard to exit. Urge patients to seek a second opinion, not necessarily to change treatment plans, but to validate them and provide reassurance.
• Identify and connect to disease-specific groups early—Clinicians should be proactive in referring patients to disease-specific organizations. These groups provide immediate access to vetted information, expert lists, peer support, and often research opportunities.
• Recognize the emotional and informational gap—Newly diagnosed patients with rare cancers often find their local care teams cannot fully answer disease-specific questions. A single phone call from a knowledgeable navigator or peer can alleviate fear and confusion.
• Collaborate across institutions— Both organizations note the importance of clinicians reaching out to disease experts, even outside their own institutions, for consultation or co-management.
• Support research through referrals—Whenever possible, encourage tumor tissue donation to relevant research efforts. For ultra-rare diseases, every sample can be invaluable.

Lessons for Generalizing Advocacy Models