Key Takeaways from the Fall Congress Season: Breaking Down Barriers for Rare Patient Communities Requires Collaboration

Living with rare diseases can be incredibly challenging for patients and their families. The journey often starts with missed or incorrect diagnoses, which can take years or even decades to get right. Once diagnosed, finding information and specialists can be difficult, especially for those in rural areas. Additionally, patients with rare conditions frequently face more obstacles in accessing treatment compared to more common diseases.?

The complex nature of the rare disease ecosystem is a priority for my team and me. During the Fall 2024 congress season, I had the chance to discuss these critical issues with leading clinicians, researchers, policymakers, and patient advocates. Conversations at events like #CHEST2024, #AANEM2024, #IgNS2024, #ACAAI24, #ASHP, and the #PlasmaProteinForum highlighted how working together can lead to meaningful solutions.?

Here are some key themes that can help us better support patients:?

Innovations and New Programs: Simplifying Complexities?

When thinking about innovation to ease the patient journey, we must consider:?

• Purpose:?Does the new tool, process, or platform help solve a problem or make life easier for patients and their families as they work with healthcare providers? If not, we need to rethink it.?

• Integration:?Can the solution fit seamlessly into existing daily habits and workflows? Solutions should not add to the burden patients and their care partners already face. Does anyone need another complicated system??

• Feedback:?What do patients, families, and healthcare providers think about the new idea? It should meet patients’ needs and support them right where they are. The best innovations are created with input from those who will use them.?

• Technology:?Are we using the latest technology effectively? From quicker diagnoses to better support along the treatment journey, technologies like AI could make a big difference. Can these tools be integrated into what patients and healthcare providers already do??

Collaboration: Critical to Improving Treatment Access?

Getting a diagnosis is just the first hurdle in a long journey. After that, patients and their healthcare providers must find the right treatment, get insurance approval, work with specialty pharmacies or infusion centers, and adjust to ongoing care. It’s essential that we help patients understand what to expect from each part of this journey and guide them through it.?

We need to explore the extent to which processes around access can be streamlined, potentially ensuring more timely treatment for rare disease patients. While some of these processes, such as prior authorizations and regular reauthorizations, are designed to promote cost-effective care, they often result in delays that are particularly detrimental for the rare disease patient population. This is layered on top of the fact that many of these patients already have limited treatment options and have likely already waited years for an appropriate treatment diagnosis. ?By rethinking and integrating advanced technological solutions, could we address these inefficiencies and improve patient outcomes?

Education: Empowering Patients?

Feedback shows that direct outreach to patients about rare diseases, using methods typically for more common conditions, can be very effective. When patients are well-informed, they can have more productive talks with their healthcare providers and feel more empowered to make decisions. This approach helps inform patients about options for managing their care in a way that works best for them. ?

Looking Ahead to 2025 and Beyond?

These meetings were powerful reminders of how collaborative we must be to tackle the many challenges faced by the rare disease community. By working together, we can truly amplify our impact, support patients more effectively, and simplify the journey they face. As we look to 2025, we’ll be guided by the insights we gained this year. Let’s continue listening, learning, and collaborating in the New Year.?

What’s the most valuable lesson you’ve learned about navigating the complexities of being a patient or supporting a loved one this past year?