Though “rare” is the key word, ~30 million Americans[i] are living with at least one of 7,000 rare diseases. A disease is defined as rare when the condition affects 200,000 or fewer individuals in the United States (the definitions vary by geography). Having a rare disease, is, after all, not that rare.
As we help the rare disease community accelerate the development of new treatments, at Seeker Health we sought to understand what, if any, burden of illness was common and shared by patients and families living with rare diseases. Through a series of qualitative market research interviews with patients with various rare diseases, conducted over several years, we sought to understand the diagnostic and treatment journey, the economic and emotional burden, and the quality of life impact. Our hope is for these insights to help the rare disease community generate useful and collaborative ideas to ease the burden of illness for patients with rare disease.
Though rare diseases vary in terms of diagnosis, prognosis and impact, we found the following areas of common burden in rare diseases:
Diagnostic Delay: the pathway to diagnosis for patients with rare diseases is generally fraught with delays and misdiagnoses. Patients often visit many specialists before achieving a final and correct diagnosis. As newborn screening only includes a dozen of syndromes, and those included vary by state and country, patients with rare diseases must first demonstrate serious symptoms before diagnosis can be achieved.
Diagnostic Trauma: Patients and caregivers described the experience of receiving a diagnosis for a rare disease as very traumatic. While patients admitted to a sense of relief at finally being able to assign a name to their collection of signs and symptoms, what follows is deep despair related to never having heard of the condition before and not knowing anyone else with it. Education and support around diagnosis were seen as the most important tools to ease the trauma and isolation these families feel at the time of diagnosis.
Limited Treatments: The current treatments for most rare diseases are very limited or cumbersome. Only a minority of rare diseases have treatments, pharmaceutical or other, that can be prescribed to directly address the condition. For most rare diseases, however, treatment becomes about “fixing what is breaking in the body,” and patients are submitted to several surgeries and procedures, which do not address the underlying cause of the rare disease. Patients perceive a heavy physical and emotional burden in the reality that there isn’t a way for them to “get better.” Patients are highly motivated to participate in clinical trials for new medicines, however, biopharmaceutical companies often struggle to find the affected patients.
Medical Costs: A rare disease imposes significant medical costs on patients and caregivers, as well as health systems. Without therapeutics to address the underlying cause of a rare disease, patients must resort to undergo resource-intensive surgeries and procedures to address symptoms (e.g.: cervical decompression surgeries in MPS diseases). Many rare diseases require the purchase of medical equipment, therapies, special foods or supplements that are generally not covered by insurance.
Patient’s Quality of Life: Most rare diseases have a moderate to severe negative impact on quality of life. Though the spectrum is broad, most rare diseases provide the burden of a physical or mental disability, or both. Though the United States has made significant progress in providing more equal opportunities to people with disabilities, most patients noted still feeling limited. Isolation was brought up as one of the most common feelings for patients with rare diseases, and most noted relying on online resources (e.g: Facebook, patient education) to learn about their condition and connect to others.
Caregiver’s Quality of Life: Isolation, Depression, Anxiety and Exhaustion. Caregivers noted being very challenged by caring for a child or family member with a rare disease. Most expressed trying to manage through feelings of isolation, depression about the realities of the diagnosis and disease, and anxiety over the type of life the affected family member will have. All noted a degree of overwork and exhaustion in managing the medical, emotional and social needs of a loved one with a rare disease. Most noted that online communities provided a great deal of connection and support and significantly eased feelings of isolation.
Loss of, or Suboptimal Employment for Caregivers: A rare disease diagnosis for a child sometimes renders one of the caregivers unavailable for employment. The medical demands of a progressive rare disease affect the caregiver’s time for pursuits other than childcare. Families noted having to quit their jobs or choosing less-demanding jobs due to the demands of caring for a child with a rare disease.
Collaborating for Better Patient Outcomes
We can ease this burden of illness for rare disease patients and families by:
- Continuing to work to develop treatments for the many rare diseases that don't yet have a treatment
- Improving patient education about their own diseases, especially patient resource online that are written for patients to understand
- Improving patient’s abilities to connect with others with the same condition
- Improving emotional / mental health support for caregivers and patients
- Keeping patients informed about clinical trials for their rare disease
At Seeker Health, we have experimented with some “radical” collaborations among biopharmaceutical companies and patient advocacy groups to educate about rare diseases and find patients for clinical trials. Our collaborations center on a common goal: better outcomes for patients. We recognize the interconnectedness of the parties that can improve outcomes for patients: educated physicians to diagnose and treat, biopharma to develop new or better medicines, patient advocacy groups to support patients, FDA to review and approve, and digital and other media to educate and intersect patients when and where they are looking for information and support. These collaborations can take the tactical form of a patient registry, or a program to educate about and pre-screen patients for a clinical trial.
At Seeker Health, we are excited about a future when these “radical” collaboration projects are no longer an innovative experiment but the norm for all rare diseases.