The Hidden Burden of Rarity: Navigating the Rare Cancer Journey With Claire Saxton, MBA

In honor of Rare Disease Day on February 28, Oncology Data Advisor spoke with Claire Saxton, MBA, Executive Vice President for Insights and Impact at the Cancer Support Community (CSC). In this interview, Ms. Saxton explores the unique psychosocial burdens faced by patients with rare malignancies, the clinical complexities of diagnosing "zebra" diseases like neuroendocrine tumors (NETs), and the role of the multidisciplinary team in supporting patients through periods of active surveillance.

For more information about Cancer Support Community, visit https://www.cancersupportcommunity.org/ or call the helpline at 888-793-9355.

Redefining "Rare" in the Era of Precision Medicine

The definition of a rare disease is evolving as oncology shifts toward molecularly-driven diagnoses. Ms. Saxton noted that while the FDA provides special considerations for rare disease drug approvals, the clinical reality is often more complex. “It used to be that we treated cancer by where it starts,” she explained. “But now we’ve really gotten to the point where we’re treating cancer by asking ourselves what the molecular drivers are.”

This shift means that even common cancers, such as non–small cell lung cancer, can be subdivided into rare molecular subsets (eg, EGFR-positive). However, patients in these subsets may not face the same profound sense of isolation that patients who have "ultra-rare" diseases like cancer of the appendix. Unlike high-profile cancers with broad public awareness, rare cancer patients may feel invisible. “There’s a lot of that peer support that you can get by finding other people who are living with the same experience so that you feel less isolated,” Ms. Saxton emphasized.

The "Zebra" Challenge: Overcoming Diagnostic Delays

A significant hurdle for rare disease patients is the delay in receiving an accurate diagnosis. Ms. Saxton highlighted the common medical adage, "If you hear hoofbeats, think of horses, not zebras," which encourages clinicians to look for common explanations first. While statistically sound, this approach can lead to prolonged misdiagnosis for patients with rare conditions like NETs.

“NETs in particular cause symptoms that can be caused by lots of other things,” Ms. Saxton noted. Because functional NETs produce hormones that cause wheezing, flushing, or diarrhea, they are frequently mistaken for more common ailments like irritable bowel syndrome (IBS). This diagnostic lag contributes to the "isolation, anxiety, and risk of depression" that she identifies as common across the rare disease spectrum.

Managing the Anxiety of "Watch and Wait"

For certain rare or slow-growing cancers, such as chronic lymphocytic leukemia (CLL), the standard of care may involve a period of active surveillance, often referred to as "watch and wait." For many patients, this approach feels counterintuitive and anxiety-inducing.

“When you are diagnosed with cancer and somebody tells you the treatment right now is to watch and wait, that can be anxiety-producing,” Ms. Saxton said. She noted that CSC prefers the term "active surveillance" to emphasize that the patient is being closely monitored to ensure treatment begins only when the benefit outweighs the side effects. To support patients during this phase, she recommends focusing on controllable factors: “Think about things you can do—have a healthy lifestyle, look at your diet, try to be more active.” Mindfulness practices and peer connections are also vital tools for managing the psychological weight of a cancer diagnosis without immediate intervention.

The Role of the Multidisciplinary Team in Psychosocial Support

The multidisciplinary care team plays a crucial role in connecting rare disease patients to specialized resources. Ms. Saxton urged clinicians to direct patients toward both local support chapters and national advocacy groups. These organizations provide the "hope that comes from getting that kind of peer support of knowing other people who really are living in spite of the disease."

For patients and caregivers who wish to look beyond their own diagnosis, Ms. Saxton highlighted opportunities for advocacy, such as joining grassroots networks to influence health policy and research funding. “Sharing your story as a caregiver can be helpful to other caregivers and being a voice for advocating both for health policies, as well as advocating for research,” she concluded.

Key Takeaways

• Rare diseases are increasingly defined by molecular drivers: Precision medicine is turning common cancers into collections of rare molecular subsets, each requiring specialized support.

• While diagnostic delays may be expected in "zebra" cases, keep advocating for yourself and your patient: Conditions like NETs are often misdiagnosed as common ailments (eg, IBS) due to nonspecific symptoms; clinicians should remain vigilant when "common" treatments fail.

• Reframe "watch and wait" as active surveillance: For diseases like CLL, emphasize that monitoring is a proactive strategy to avoid unnecessary treatment side effects while maintaining control.

• Combat isolation through peer connection: Rare cancer patients face higher risks of anxiety and depression; connecting them with specific advocacy groups (eg, the Cholangiocarcinoma Foundation or CSC) is a clinical necessity.

• Empower patients through advocacy: Encouraging patients to share their stories or join policy networks can provide a sense of agency and purpose throughout the survivorship journey.

About Ms. Saxton

Claire Saxton, MBA, is the Executive Vice President for Insights and Impact at the Cancer Support Community (CSC). In this role, she leads psychosocial research initiatives and works with the Cancer Policy Institute to ensure the patient and caregiver voice is represented in national health policy debates and research funding incentives.