Palliative approaches can help address gaps of care among patients with a diverse range of rare chronic and serious illnesses.
Rare diseases include a broad spectrum of illnesses experienced by a smaller proportion of the general population. Although uncommon, the severity of symptoms and increased mortality risks associated with rare diseases is fueling greater demand for more specialized health care professionals.
Palliative care providers can help ensure that these patients don’t “fall through the many cracks” of a fragmented health care system, according to Landon Blankenship, chief nursing officer at Hospice of Southern West Virginia, which provides hospice and palliative care across four counties in the state.
“One of the biggest things we see is that gaps exist in health care, and it’s very detrimental to the outcome of the patient, especially for those with rare diseases,” Blankenship told Palliative Care News. “There are lots of gaps in their insurance coverage and what isn’t covered for their treatment. Some gaps exist because they can’t access care without much needed specialists [nearby]. Unfortunately, we also see a lot of caregiver strain and stress taking care of these patients.”
Uncovering the palliative need
Greater understanding around rare diseases is needed as growing aging populations with these conditions access care across the continuum, Blankenship indicated.
Rare illnesses can include a wide range of systemic and rheumatologic, neurological, hematological, auto-immune and severe skin conditions. Multiple system atrophy (MSA) is one example of a more rare degenerative neurological disease, while Amyotrophic Lateral Sclerosis (ALS) impacts the brain and spinal cord. Huntington’s Disease, cystic fibrosis and ankylosing spondylitis, a type of debilitating and chronic genetic arthritis, are a few other rare diseases.
Genetic disorders like Ehlers-Danlos Syndrome impact roughly 1-in-5,000 Americans according to a MedlinePlus report. Additionally, blood cancers such as histiocytosis can be more difficult to detect and treat in patients, according to recent research.
Patients with rare conditions often have multiple comorbidities impacting their overall health trajectories and outcomes, said Dr. Heather Brown, pediatric hospice and palliative medicine physician at the Kennedy Krieger Institute, which is affiliated with Johns Hopkins School of Medicine.
“For many patients with rare diseases, unmet needs extend far beyond the medical or clinical manifestations of their conditions,” Brown told Palliative Care News in an email. “As a disease progresses, symptoms inevitably worsen. Early involvement of palliative care can prevent or relieve suffering by addressing the symptoms and stressors of these rare diseases. The key to effectively addressing these needs is a comprehensive interdisciplinary care approach, which includes disease-specific specialists, in conjunction with palliative care and social work.”
As these illnesses progress, factors that affect quality of life for both patients and their families become increasingly important, Brown stated. Greater access to palliative care can help address a patients’ functional declines and limitations, pain and symptoms such as poor sleep, mood disturbance, gastrointestinal issues and behavioral concerns, she said.
Patients with rare diseases often have unmet needs when it comes to complex pain, neurological and emotional support, according to Dawn Selke, chief experience officer at Paradigm Health. The Indianna-based health system provides hospice and palliative care.
Other often unaddressed aspects include a lack of financial resources, education about their disease progression, advance care planning and goals of care discussions, as well as lagging care coordination and caregiver support, according to Selke.
“Some of the impacts of lagging palliative support for patients with rare diseases include reduced quality of life, unmanaged symptoms, increased hospitalization and/or ER utilization, caregiver burden due to lack of support and resource access and a lack of understanding of complex and unique care needs by health care providers,” Selke said in an email. “[Additionally, it’s] the potential for increased frequency of mental health issues including depression and anxiety, and [issues of] a lack of understanding of patient prognosis [that] may result in late palliative and/or hospice referrals.”
Palliative a quality, cost driver
An estimated 25–30 million Americans have some type of rare disease (RD) and experience unique challenges as a result, according to a 2017 study published in the Orphanet Journal of Rare Diseases.
Patients with rare diseases were more likely to report poorer health-related quality of life (HRQL) scores compared to others with common chronic conditions, the study found. A main driver is that current health care system structures do not adequately address the needs of patients with rare illnesses, according to the study authors.
Much of the research around rare diseases has focused on underlying causes and treatment pathways and less on quality or outcomes, the authors indicated.
Palliative care can play an important role in improving quality among patients with rare diseases, according to Blankenship. These services can span a range of psychosocial, medical, nonmedical, emotional and spiritual support accessible to patients with various serious illnesses, he said.
Rare conditions can land patients in the hospital at higher rates compared to others, incurring high health care costs that strain families, Blankenship stated. Increased access to community-based palliative care can be an avenue towards reducing high care utilization and easing financial burdens, he said.
“The benefits of receiving palliative care for patients with rare diseases is that we have better outcomes and improved quality of life,” Blankenship said. “Palliative providers [can] see patients in their homes, where we get to step into their reality and see the hierarchy of their needs such as food, medication, transportation and shelter. These patients are also at increased risk of repeated hospitalizations in short timeframes, and palliative care services can help address symptoms and reduce ER visits.”
Greater resources needed
The wide swath of rare diseases takes a unique approach to symptom management — one that lends well to interdisciplinary palliative care delivery, according to Brown.
“Some strategies to improve quality and access among seriously ill patients with rare conditions include an interdisciplinary focus and an emphasis on collaboration: working with other specialties to support patient outcomes to address the multifaceted needs of patients with rare conditions,” Brown said.
More hospitals, health systems and oncology offices have ramped up partnerships with palliative care providers, or established inroads to these services within their own scope of practice.
Having a palliative presence in various points across the care continuum can be beneficial toward improving quality and symptom management among patients with rare conditions, according to Margaret Mahon, nurse practitioner at the National Institutes of Health (NIH) Clinical Center’s Pain and Palliative Care Consult Service.
These patients access the health care system at different points in their lifetimes, often beginning in the pediatric and primary care spaces, she stated. A main hurdle is communicating the value proposition of palliative care to other providers that often conflate these services with hospice, Mahon stated.
More palliative clinicians are needed to improve quality and symptom management in patients with rare diseases, according to Mahon. Workforce shortages have hindered the ability for provider volumes to keep pace with rising demand, she stated.
“There’s a real paucity of palliative care providers across the country, with many more focused on the broader range of palliative care and less on rare diseases,” Mahon told Palliative Care News. “There just aren’t enough of us to go around. If more people were educated in palliative care, and we recognize it as different from end-of-life care, that would be great because we can do more for more people and families over time.”
A wider base of palliative social workers can also be a key to improved patient and caregiver support, Brown indicated. Social workers can help connect families with community resources for practical and financial assistance, assist with medical equipment and respite needs and help families and patients cope with the emotional challenges of rare diseases, she stated.
Increased palliative care utilization among patients with rare diseases can lead to better goal-concordant care, Brown said. But this care approach requires time and effort to build a strong rapport with patients to gain the insight into what they feel is most important, she added.
“When a clinical change arises or a crucial decision must be made, the palliative care provider can collaborate with the family and the multidisciplinary care team to reassess values and ensure that decisions and treatment plans are aligned with the family’s goals,” Brown said. “Once palliative care providers have a better sense of a family’s goals, they can provide guidance in navigating medical decisions that are most aligned with these objectives.”
