The patient journey is the comprehensive and dynamic experience a patient undergoes from the first signs of illness to the long-term management or resolution of their condition. This journey goes beyond just medical interactions to include emotional, psychological, and social aspects that patients face throughout the process.

For the 300 million people living with rare diseases worldwide, the patient journey presents significant and unique challenges, including delayed diagnosis, limited treatment options, and barriers to access.

To support Rare Disease Day’s efforts to raise awareness and highlight patients’ experiences, we spoke with patient engagement expert Luca Trentin. In this interview, he discusses the challenges faced by people with rare diseases and the steps pharma companies can take to understand and address their needs.

Can you please explain the patient journey?

Patients go through various experiences as they proceed from the first symptoms of a disease or disorder to diagnosis, treatment, and either resolution or ongoing management. In healthcare, this is called the patient journey. The patient journey has several stages, each marked by specific emotions, pain points, and unmet needs. The first stage is symptom recognition. Patients’ unmet needs often include understanding what’s causing the symptoms and finding support to seek help. The diagnostic stage can involve multiple visits to different healthcare providers and numerous tests, plus patients often have to navigate the complexities of healthcare systems.

Once diagnosed, patients should work closely with their doctor to understand the recommended treatment plan. While providers make the final decision about treatment, patients are encouraged to ask about all available options and gain a clear understanding of the chosen medication, including its effectiveness and potential side effects. During the treatment process, patients may experience significant physical discomfort and will benefit from support to manage side effects and navigate the complexities of the treatment regimen.

Finally, many patients must live with and manage the condition, which can lead to isolation, depression, or anxiety. Unmet needs in this stage include continued social, emotional, or mental health support, financial assistance, and community engagement.

Addressing the pain points and unmet needs at each stage is crucial to improving the patient experience. Healthcare providers, systems, pharmaceutical companies, and other stakeholders must offer not only clinical care but also emotional and psychological support, clear communication, and community connections to help patients manage their journey more effectively.

How would you describe the challenges patients with rare diseases face throughout their patient journeys?

In our work with rare diseases, we’ve seen that patients living with a rare condition face a unique set of challenges. The nature of rare diseases means that the healthcare community and the public in general frequently know nothing about them. Patients may feel isolated or frustrated because others don’t recognize their symptoms or take them seriously. And because most healthcare providers are not familiar with these rare conditions, one of the most significant issues is the often long and difficult diagnostic process. Providers may misunderstand the symptoms, attribute them to more common diseases, and misdiagnose patients.

In many cases, rare diseases lack approved or effective treatments, and treatments that do exist are often extremely expensive. Patients may have difficulty accessing specialized healthcare providers or necessary treatments, especially if they are in areas with limited healthcare infrastructure. They may also struggle with finding clinical trials or accessing experimental therapies.

Lastly, the uncertainties of diagnosis and limited treatment options often cause significant emotional strain. Patients may feel hopeless, anxious, or frustrated as they deal with the long-term nature of their condition.

What are some common gaps in patient support and communication that impact the experience of people with rare diseases?

As I mentioned earlier, many healthcare professionals lack expertise in rare diseases, leading to misunderstandings, misdiagnosis, and delays in treatment. Patients may struggle to access reliable, clear, and comprehensive information about their condition and treatment options. They can end up confused and mistrustful of the healthcare system.

Patients with rare diseases often see multiple specialists, causing fragmented care. Communication gaps between these healthcare providers can result in inconsistent treatment and unnecessary duplication of tests.

We’ve seen how crucial emotional support is for these patients, and how often it’s underprovided. Providers don’t always direct patients to appropriate psychological services to cope with the strain of living with a rare disease. And many rare disease communities need more resources to connect patients with others in similar situations, leading to a sense of isolation.

How can pharma companies ensure they truly listen to and understand the needs of patients in rare disease communities when designing treatments and services?

We recommend several key strategies for pharma companies to understand and address the needs of patients with rare diseases. First and foremost, it’s essential to have a clear understanding of the patient journey, which includes not only the clinical aspects but also the emotional, psychological, and social challenges patients face throughout the process. This understanding should be one of the first steps in any treatment or service design.

Regular engagement with patients through surveys, interviews, and focus groups/advisory boards can help you understand their needs, challenges, and preferences. Building direct relationships with patient advocacy groups further enhances this understanding. The feedback gathered from these interactions should be reflected in the development process, and whenever possible, solutions should be co-designed with patients.

Clinical trials also present another opportunity to respond to patient needs. You can make trials more accessible by removing financial and geographical barriers, and providing clear, easily understandable information to help patients make informed decisions about participation. We’ve seen a significant impact when companies prioritize trial outcomes that are meaningful to patients, such as quality of life and symptom management, rather than focusing solely on clinical markers.

Additionally, educating both the medical community and the public about rare diseases is vital to raise awareness and promote early diagnosis.

Rare Disease Day, coordinated by over 65 national alliance patient organization partners, including EURORDIS, is an important part of this effort. The program not only aims to increase global awareness about rare diseases but also focuses on the need for equity and access to diagnoses and therapies for people living with a rare disease.