Navigating Diagnostic Complexities and Enhancing Communication in Rare Disease Care

Rare diseases are often defined not just by their complexity, but by the isolation they create—clinically, emotionally, and communicatively. With conditions like RPI deficiency or Aicardi syndrome affecting fewer than 1,000 people globally, the path to diagnosis, treatment, and support is anything but straightforward. When these diseases strike in childhood, as most do, they introduce an additional layer of nuance: the vital, and often unspoken, relationship between caregiver and patient.

A new report from Golin Health, a 2025 MM+M Agency 100 honoree, casts light on this dynamic. Focused on rare disease patients aged 16 to 23 and caregivers between 25 to 55 years old, the report brings fresh insight into a transitional life stage rarely spotlighted—when young adults with rare conditions begin assuming ownership over their health decisions.

The study draws from respondents affected by hemophilia, albinism, cystic fibrosis, and Gaucher disease, among others. A central finding: the journey to independence is not linear, nor is it equally understood by all involved. Nearly 80% of caregivers expressed concern that their loved one wasn’t ready to manage care independently. Yet among patients who had made the leap, 79% reported they had managed to become independent—with 29% feeling fully prepared and 50% feeling somewhat prepared.

This gap in perception suggests a communication fault line between caregiver and patient, particularly around readiness and responsibility. And when patients do take control, new tensions can arise: 76% of patients who achieved independence said they had changed their treatment plan, often diverging from what caregivers had anticipated. In contrast, just over half of caregivers believed the existing treatment plans would remain intact.

But independence isn’t only about treatment modifications—it extends into daily living and mental health. A significant number of independent patients reported changes in their routines and support systems, with 57% adjusting their approach to mental health care. These shifts underscore how autonomy reshapes not only clinical management but also broader lifestyle and emotional strategies.

These transitions present a clear challenge—and opportunity—for healthcare professionals and marketers alike. As Jaimee Reggio, managing director of U.S. healthcare at Golin Health, noted, “There’s a real opportunity for [medical marketers] to consider this life transition, and perhaps, other life transitions where additional resources would be helpful.”

Critically, both patients and caregivers emphasized the need for more in-depth, ongoing conversations with healthcare providers—not just about immediate treatment, but about long-term care planning and outcome measurement. For many, this type of communication is still lacking. Patients reported feeling less prepared during the transition to independence compared to peers with more common conditions, and they ranked guidance from healthcare professionals (HCPs) as the most influential factor in choosing a treatment plan. Peer-to-peer support and mental health resources followed closely.

Interestingly, educational materials lagged far behind—only 26% of patients found them helpful when moving toward independence. But that calculus changes once independence is achieved. At that point, patients named mental health resources as their most valuable support, with HCP guidance and peer conversations continuing to play key roles.

This evolution in support needs signals a missed opportunity. Many current outreach efforts remain static, failing to evolve alongside the patient’s journey. Understanding where rare disease communities are getting their information is essential to filling those gaps. According to the Golin Health report, patients are most likely to rely on advocacy groups and social media for day-to-day disease management. Caregivers, meanwhile, often turn to treatment websites and printed HCP-provided materials, but also show a strong preference for digital sources like Google and trusted medical news outlets.

That divergence in information channels is more than just a marketing consideration—it’s a window into how trust and engagement vary between stakeholders. Reggio stressed that effective support strategies need to empower not just physicians, but the entire care team. “We know that the doctor’s appointment length is short,” she said. “So we need to look at ways and tools to improve communications between patient and provider.”

Ultimately, the report does more than map caregiver-patient dynamics; it calls attention to the structural gaps that persist across the rare disease care ecosystem. As more young patients seek independence—and as caregivers learn to let go—medical marketers and clinicians alike have a crucial role to play in guiding both through this transition. The rare disease space, often overlooked due to its scale, may well be the proving ground for more personalized, communication-driven models of care.