Supporting Treatment Adherence in Rare Disease

Living with a rare disease presents multiple challenges to patients and their families, including those associated with adherence to long-term treatments. As with other chronic conditions, the discipline of health psychology enables us to identify the barriers and motivators specific to individuals with rare disease—and helps us create successful interventions for improved self-management.

Rare Disease—Not so Rare

Rare diseases are serious, chronic conditions that generally start in early childhood, are life-limiting, and often poorly understood. Some of the better known rare diseases include cystic fibrosis and Huntington’s disease. In the U.S., a disease or disorder is defined as rare when it affects fewer than 200,000 Americans at any given time. There are currently more than 6,000 recognized rare diseases. Collectively, therefore, rare diseases are not so rare: In the U.S., one person in 1,500 is affected.

Adherence to long-term treatment is a broad problem that is not specific to one disease category, but rather affects all chronic disease. Indeed, the World Health Organization describes treatment adherence as a “global epidemic.” It is unsurprising therefore that treatment adherence is a challenge observed across rare disease also.

Research in adherence in rare disease is limited, yet we can learn from the more comprehensive research in chronic disease, and extrapolate this to patients and their families living with rare disease.

Nonadherence is Multi-Factorial

Interventional approaches to overcoming treatment nonadherence are most successful if they are grounded in the reasons why a particular individual is nonadherent. Individuals are unique, and even those living with the same condition and on the same medication will have different reasons for nonadherence. Health psychology provides us with a number of models to help understand these reasons. Personalized interventions can then be offered to the individual to help them overcome their barriers to treatment adherence.

Reasons for nonadherence may be related to the practical challenges associated with taking a medication, such as forgetting or finding it difficult to integrate medication taking into daily life. Reasons may also be related to more structural challenges such as difficulties accessing treatment or a perceived lack of social support. For a large proportion of patients, however, reasons for nonadherence are grounded in the patient’s beliefs about their condition and treatment. Patients often hold beliefs that are incongruent with long-term treatment adherence, with many harboring concerns about treatment and failing to see their medication as necessary.

Four Key Considerations for Rare Disease Treatment Adherence

Pharma and all healthcare stakeholders need to be mindful of the unique characteristics of rare disease that may also impact treatment adherence. These include:

1. Family involvement: With 80% of rare diseases having a genetic component, and with many patients being diagnosed in early childhood, rare diseases are inescapably family diseases. Family needs to be involved in any agreed treatment plan to support ongoing adherence. Family may also be directly involved in caring for patients and managing their medication regimen, especially at later stages in the disease trajectory. It is important therefore that healthcare services tend not only to the needs of the patient, but also to the practical and emotional needs of the caregiver.

2. Lack of local knowledge: Medical expertise as it relates to rare disease is scarce and usually only available in specialist centers that may not be close to the family home. Unfortunately, this can translate to a lack of support from local healthcare services, with patients receiving care that they perceive to be inadequate to cope with their daily challenges. Patients play a vital role as experts in their disease and should be encouraged to share their experiences with their treating healthcare team.

Indeed, when it comes down to how to manage the disease on a day-to-day basis, patients often have a better grasp than the medical professionals involved in their care. The treating healthcare team must also consider where the patient is in terms of his/her disease trajectory, and tailor support accordingly. Newly diagnosed patients and their families will likely want more information and support from their healthcare team than patients who have been living with the condition for some time.

3. Perceived stigma: While there is a growing public awareness and a greater number of advocacy groups than ever before, rare diseases are still misunderstood and perceptions of stigma can be very real for patients and their families. Stigma may prevent patients from disclosing their condition to others and may have an impact on their ability to take treatment as prescribed. Patients and their families need to be provided with the skills and tools to feel confident in talking to others about their condition. Stigma may be an especially important concern for families for very young patients, and for teenage patients who do not want to feel different from their peer group. Any support provided to patients to address stigma must be tailored to both the patient’s stage of the disease journey and their stage of life.

4. Feelings of isolation: The very nature of rare disease means that patients and their families may feel especially isolated in living with their disease, leading to psychological distress. It’s not uncommon for patients to experience excessive fear and worry, as well as low mood in relation to their diagnosis and its day-to-day management. Social media provides a platform for individuals across the globe with similar diseases to be able to connect and share information and experiences, thereby reducing the impact of psychological distress on coping and ongoing self-management.

What Can Pharma Offer?

Some of the challenges inherent in rare disease also offer opportunity for pharma. Excellent examples include the many instances in which pharma has formed close links with specific rare disease communities. This helps to foster the development of support networks for patients and their families, and provide links into expertise both from KOLs and from patients and families. In addition, these networks can provide a way for pharma to develop a greater understanding of patient and family needs and issues in order to develop better and more effective support services based around their treatment offer.

  • John Weinman, PhD

    John Weinman, PhD is Head of Health Psychology at Atlantis Healthcare and Professor of Psychology at King’s College, London. Professor Weinman is recognized as one of the founders of modern health psychology and respected as a preeminent global thought leader in the field. His main research areas are cognition and health, communication and decision-making in healthcare, and self-management and self-regulation in chronic illness.

    • Kate Perry

      Dr. Kate Perry, MSc, PsychD, MNZPB is Director, Behavioral Science at Atlantis Healthcare. A registered psychologist with 20 years experience in the healthcare sector, Dr. Perry is responsible for the development of global evidence-based programs to promote behavior change among individuals living with chronic conditions.


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