Challenges of caring for a rare disease patient—a discussion
Written by
Wendy Erler, VP global head patient experience, Alexion Astra Zeneca Rare Disease
Paul Kidwell, communications and patient advocacy consultant and co-host of the podcast, InSickness. Men and the Culture of Caregiving
Although the designation of a “rare disease” might suggest something that is seldom seen or acknowledged, it is likely that most of us know someone who lives with a rare disease diagnosis or even multiple rare diseases. In fact, according to a 2019 peer-reviewed scientific paper published in the European Journal of Human Genetics1, the number of rare disease patients hovers around 300 million globally, or nearly 5% of the worldwide population. In context, it is roughly equal to the entire US population. With this significant impact, it is clear that rare disease is an urgent global health priority. When viewed in the aggregate, it’s an interesting notion to ponder, especially when reflecting on the fact that there are nearly 11,000 named known rare diseases today.2 Approximately 300 million rare disease patients and 11,000 rare diseases collectively is a considerable number, but these are still individually rare.
In rare disease, we often talk about the power of community. No one should navigate a rare disease alone and community is the cornerstone of the experience. When we contemplate the number of people impacted by a rare disease diagnosis, it is even more formidable knowing that each patient requires a cadre of care, medical teams, and support. and may have at least 1-2 people providing care for them daily. About 70% of rare diseases are diagnosed during childhood, and about 80% have a genetic cause. In the rare disease ecosystem, caregivers bear a significant burden. In fact, when it is a child that is diagnosed, we know that often one or both parents must become a full-time caregiver. These global numbers certainly make a strong case for ensuring that rare diseases are considered an urgent priority by policymakers, drug developers, and in public health circles. Medical conditions that directly or indirectly impact nearly one billion people worldwide need the same level of funding, research, and attention as that of cancer, heart disease and infectious diseases and should also receive comparable funding priority and advocacy, including support for caregivers.
The role of caregivers
In rare diseases, caregivers may have a significant life-long burden of care. Still, they are an undeniable global force that continues to drive innovation, awareness, and policy while also maintaining a full-time caring role for their loved ones: patients for whom they devote themselves to advocating for healthcare.
Rare disease patients are largely underrepresented in the healthcare system. It is often the caregivers who lead the charge, advocating for earlier and accurate diagnosis, novel medical treatments, and achieving an enhanced health wellbeing.
In support of a rare disease patient, a caregiver plays detective in searching for available disease-related research to connect symptoms, researchers, and treatment information; provides support in speaking with multiple physicians and healthcare professionals and embraces a slew of unimaginable and unforeseen responsibilities that come unannounced because of a rare condition.
The burden among parents associated with caring for children with a rare disease appears to affect women disproportionately. Often times, long-term caregiving for a rare disease is a significant burden. Family caregivers are part of healthcare and social systems, extending care, dosing medications, and managing patient wellbeing; however, their work is unpaid, time-consuming, and emotional. For parents of children with rare diseases, the dreams they have for their families change and despair is real.
In general, caregiving is something for which individuals have no preparation, and when the need arises, usually urgently, it is an isolating journey without a roadmap.
For people receiving a cancer, diabetes, or cardiovascular-based diagnosis, there is generally wide familiarity of the disease and as a result, a roadmap for care. This existing infrastructure of support helps a caregiver take the initial steps to help without the loss of valuable time. This is not the case with a rare disease where disease awareness is low, knowledge is scarce and people sharing the same experience are few; caregivers now must find the time, energy, and wherewithal to bridge the gap.
Navigating unchartered waters
Often, when patients seek treatment for an unexplained physical condition, they are likely to start that journey in a local hospital emergency room or through multiple physician consultations in search of answers. Likely these interactions will not result in an accurate diagnosis for years to come. This is when the caregiving journey truly begins. This time can be detrimental to a caregiver’s and patient’s mental and physical health as they are confronted with an acute health issue that might worsen over time.
For the caregiver, it presents perhaps their first challenge of navigating an illness without any experience or point of reference. Caregivers bear the responsibility to track every piece of information and connect the dots while often making decisions alone.
Until the patient receives a precise diagnosis, both patient and caregiver are in a state of limbo, which can be frustrating, emotionally draining, and isolating.
Often acting as a patient’s voice, caregivers spend much of their time looking for information that will bring them closer to an accurate diagnosis, research, available treatments, and hopefully a prognosis. This search might include seeking out physicians or specialists worldwide who have experience with a specific disease area, ongoing research in biotech or academic labs, and patient connections through established disease-related foundations or social media groups. Connecting with doctors and researchers will provide valuable disease knowledge. Still, we argue that ongoing interaction with fellow patients and caregivers is critical to share information and help provide emotional sustenance with what will likely be a long and intricate journey. Community is powerful. Moreover, caregivers need support to access and wade through resources beyond healthcare, such as respite care, access to durable equipment, travel assistance, childcare, financial support for the dozens of expenses not covered, and more.
The cost of caring
Rare diseases pose a particularly acute financial burden, especially for pediatric conditions that persist into adulthood. Unlike more common diseases, such as cancer or diabetes, rare conditions often lack financial coverage and may require specific, uncovered medical equipment and supplies. Furthermore, interventions for rare diseases are often aimed at symptom relief and are not typically covered. These ongoing costs, which can be weekly or monthly, place a significant and ongoing burden on families and caregivers
The landscape of rare caregiving is demanding and may be prolonged as caregivers wrestle with a myriad of issues that have the potential to directly or indirectly impact the support a patient receives. Getting information can be like drinking from a firehose as they must make sense of as much data as they can gather, and as time allows. It’s a painstaking process that includes numerous stops, starts, and blind spots before arriving at distilled information that can be useful to a rare patient and put them closer to the right resource with the right care or treatment regimen.
When a caregiver desperately seeks access to research, they look everywhere for answers and/or direction. This is a self-directed process and debilitating in its lack of clarity and reliable information. This process is likely foreign to them as the terminology describing illnesses is shrouded in complex medical terms which, in the early days, the caregiver probably finds challenging or impossible to understand. Amid an already overwhelming journey, they must also learn a brand-new scientific language, be able to describe what they learn to a patient and be conversant with medical staff.
Despite the challenges, a rare caregiver ultimately becomes deeply knowledgeable in a specific rare condition, an expert in the science, and often leads the discussions with healthcare providers about the rare disease and the treatment path forward.
They have spent time educating themselves on the disease, available treatments, clinical trials and access to research. It may have been a struggle to arrive at this place of understanding, but it is also empowering to caregivers as they navigate the complexity of rare disease and build their community.
Little victories are important along the caregiving odyssey. It’s a demanding world that is rife with uncertainty. This is particularly true during the onset period when rare caregivers are seeking an experienced clinician, an accurate diagnosis, , and other families in a similar situation understand them. The questions don’t end with these answers. On the contrary, most caregivers, also consider “what will happen” or “who will take care of this person when I am no longer here?”
Caregivers for patients with a rare medical condition often feel isolated and without support. Fortunately, in recent years the caregiver voice has become more prominent and established organisations, such as Global Genes, RARE-X, Eurordis, and the National Alliance for Caregiving, are able to provide critical resources to help them along their journey. These organisations along with others provide information, education, training, and support. The Red Cross also offers a training programme for family caregivers.
The challenges and demands are clear and many. The answers may not be quite as easy to pin-point, but what is clear is that it is going to take a collective response from everyone in the rare disease space. A holistic view of the disease impact on both patient and caregiver is required and must become an embedded stance if we are to truly improve outcomes for individuals and families affected by rare disease. A unified effort is essential to address the intricate needs of both patients and caregivers in the rare disease domain, underscoring the significance of considering the impact on both parties and striving for enhanced outcomes.
References:
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database | European Journal of Human Genetics (nature.com)
- The Power of Being Counted | RARE-X. https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf
We are delighted to welcome Paul Kidwell as a regular contributor and supporter of the caregiver voice from January 2025. Check back in the New Year for his regular column, Openly Caring.
