Understanding mental health challenges in rare disease

The advent of cell and gene therapies and precision medicine is leading many drug companies to focus on rare diseases – developing life-saving therapies for patients and families who might previously have had little hope of a cure. For those of us in the healthcare ecosystem, these scientific advances are tremendously exciting, offering the potential to achieve our highest goals. For those living with the impact of a rare disease, however, the experience can be frustrating, stressful, and lonely, with potential implications for both mental health and wellbeing. Understanding this reality and its bearing on clinical trials is pivotal to our ability to make continued progress in developing treatments for these rare conditions.

Toward that end, Parexel has established a close partnership with Rareminds, a UK-based charity dedicated to providing specialist counseling and mental health services to those impacted by rare conditions. One of its primary goals is to raise awareness about the importance of specialist mental health support that recognizes and addresses the unique challenges faced by individuals and families living with rare conditions. Rareminds aims to become a centralized hub of expertise to inform policy and practices across Europe and around the world – amplifying opportunities arising from the strategies of the UK Rare Diseases Framework. 

In a recent informational session, we explored key findings of a recent survey¹ of patients and caregivers conducted by Rareminds, along with recommendations that have particular relevance to drug developers designing clinical trials. Following is a summary of the most prevalent issues.

The importance of empathic and psychologically informed relationships with healthcare providers. One urgent challenge that can and must be addressed in the sphere of clinical trials is the negative effect of difficult experiences in healthcare, not just in terms of medical procedures, but with healthcare providers themselves. For those already dealing with managing uncertainty, loss, and the physical effects of disease, a lack of compassion from healthcare providers, or lack of reliable access to them, can exacerbate their psychological distress. The absence of informed support in making major decisions about their treatment creates an additional burden. Some survey respondents reported feeling isolated, fearful, and frustrated, particularly during the diagnostic odyssey, with their sentiments compounded by dismissive or disbelieving healthcare professionals.

The impact on family dynamics. While some patients reported that living with their condition strengthened their families, others find that the variable emotional and practical demands of living with a rare condition put considerable strain on family relationships. People pointed to the pressures of parenting and feeling lonely even among those closest to them. Where conditions are inherited, individuals also reported the emotional challenges of managing guilt, making difficult future choices, and the impact on extended family dynamics, too. 

The unavailability of mental health support from experienced professionals. Patients seeking mental health services noted varying levels of success. Some described frustration about long waiting lists or negative experiences with providers unfamiliar with the complex ranges of challenges often faced by those living with the impact of a rare condition. Others reported being unable to access services or support as their rare condition did not meet service criteria, or the professional did not feel adequately qualified. 

Loss of relationships with healthcare professionals post-trial. Some respondents described a sense of loss akin to bereavement when a trial ends – particularly if the end was sudden or unexpected. A trial fosters hope, and families and individuals are often intensely involved with professionals. Post-trial follow-up and support were not always available.  

Burnout among community leaders. Patient advocacy groups play an essential role, and community leaders are typically the bedrock of these organizations. But many leaders themselves are volunteers, often dealing with their own rare conditions or that of a family member. The survey highlighted that although many find the role very worthwhile, it can also be very stressful and emotionally demanding. Leaders indicated that they are often conflicted about balancing their own needs with those of their communities. Many also worry about whether they are responding effectively to those in crisis or experiencing acute distress.

What can the clinical research community do to change this paradigm?

Partner with rare organizations. At Parexel, we work closely with rare organizations like Rareminds and have hired a genetic counselor to support our delivery teams in developing an in-depth understanding of the specific challenges of the condition. There can often be a complex interplay between mind and body when it comes to mental health. It is important that we develop greater awareness of this across the conditions we work with and cascade this understanding across our teams. 

Create a model for supporting trial participants. We have created a pilot program for rare diseases based on our extensive work in oncology, where psychotherapy is offered as an adjunct to the trial. When a patient or caregiver signs up for the trial, they are able to access a set number of sessions with a trained, experienced counselor if they choose. We invite them to an initial consultation for evaluation and ensure they have a contact person for follow-up over time in designing endpoints to measure quality of life and mental health support figures prominently. For example, we are using tools to measure the distress ratings of participants at trial start and completion.

Offer access to counseling as part of the trial mindset. Participating in a trial can be practically and emotionally demanding, alongside the preexisting stress and strain of life with a rare condition. Offering access to counseling as a normal aspect of trial participation can help prevent stress from becoming overwhelming or for mental health difficulties from becoming entrenched. This in turn may help improve trial retention and engagement over time.

Include post-trial follow-up as a standard practice. It is essential to keep in mind that while the science might be taking place in a controlled environment, the trial experience is woven into the participants’ lives. At Parexel, compassionate post-trial care is standard procedure. Continuity in relationships with clinicians beyond the trial and transition of treatments is fundamental to our approach. 

Proactively support patient advocacy groups. In your partnerships with patient advocacy groups, be aware of the pressures experienced by these volunteers and make it a habit to check in with them regularly. Ask if there are ways to help. At Parexel, we have a practice dedicated to developing relationships with these groups and are keenly aware of the need to preserve their invaluable insights, knowledge, and expertise.

About Parexel

At Parexel Biotech, our expertise encompasses clinical trial design, regulatory strategy and operations, market access, medical communications, and more. Our approach addresses the needs of all stakeholders, including patients, physicians, regulators, payers, and other healthcare providers. 
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Resources

1. Rareminds Matter Survey Report 2024.

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