Rare disease caregiver policy: what, who and when/now
Written by Paul Kidwell, communications and patient advocacy consultant and co-host of the podcast, InSickness. Men and the Culture of Caregiving
The numbers are clear, obvious, and all too familiar. Nearly 300 million people worldwide live with one of the over 7,000 rare diseases. That is an extraordinary number when you think that it is almost as many people as the entire US population of the US (by a margin of just 40 million). Many of these people require or benefit from the assistance of a legion of caregivers who deliver physical, financial, and/or emotional support. It’s a largely untrained and unpaid group providing this life-affording help; and without which the life of those living with these rare medical conditions may be strikingly different. The group is also guided not by any established criteria of care prescribed by the medical community or political leaders, but rather by a combination of personal love and devotion that is without any rhyme or reason, and mostly instinctive. Think Moses and the Israelites in the desert.
Which is why establishing a set of caregiver polices that support rare disease caregivers are a “must-have” for families who are the lifeblood of rare patient care. Don’t let the word “rare” lessen the importance of these guidelines. The policies that I am imagining in support of rare disease caregivers should be well-defined, concise and spelled out clearly —as we might if we were speaking to a young child or Golden Retriever. They should not be an adjunct to an existing policy, but rather reflect the unique nature of care, commitment and resources required by rare disease patients and their caregivers, and a clear and accessible path to support.
If we build it, they will come
Before we put a nail into the first board of policy it is wise to stand in the shoes of a caregiver and understand not only their role, but the limitations with which they are often confronted when providing care. It cannot be a singular conversation, but rather discussions and chats with as many caregivers as possible. Yes, there is a host of universal truths of caregiving, but we all have unique needs and if policymakers feel comfortable making assumptions about this experience; WELL, DON’T!!
I remember years ago providing communications support to an oncology company who were struggling with patient adherence to their medication and participation during a clinical trial. It wasn’t drug side effects, but rather equally onerous Boston traffic and parking that made it challenging to access the trial site. This information was gleaned after speaking with the patients and their care partners and finding a common theme of traffic and parking. Of the two, the company had the power to impact one, so they established a parking slush fund that patients could dip into to help offset these costs.
Discovery is not just the domain of the bench scientists in the lab. Conversations with caregivers can often extract equally valuable data that will influence the patient journey and clinical trajectory. During my own exchanges with caregivers, I have heard these comments that reflect their diverse lives and distinctive caregiving experience and could be used by policymakers to improve the lives of caregivers.
“I’m exhausted from caring for my wife. Lifting her in and out of her wheelchair, plus the number of hours it now takes me to accomplish everything, leaves me drained at the end of the day.”
“Spending time caring takes me away from work and the ability to make money. I need to work so we can afford the doctors and medicines necessary to treat the illness.”
“This has to be the most isolating and lonely experience there is. And yet, I don’t know how to fight against it. I think the idea of “caring for the caregiver” is a myth. Sounds good, but impossible for me to put into practice.”
By addressing these areas, and others, like work and workplace flexibility, mental health support, access to resources and support networks (rare disease organisations like NORD, Global Genes, and this magazine are a great place to start), invested parties can create a nurturing caregiving environment.
The more the Rare-ier
When we consider how, where and by whom policies get created, it’s understandable to imagine politicians establishing a legal precedent in a back room in congress or parliament. That is certainly a piece of the puzzle, but the process is much more involved and with additional key participants. Which is a good thing given the need to establish policies within the proper framework and perspective.
Creating caregiver policies for rare diseases is the ultimate team sport and involves collaboration and cooperation from a mix of political, medical, patient/family, academic, and social disciplines.
Some of the primary responsibilities for each group may include research and the funding thereof from government agencies who will use this data to establish initial caregiving guidelines based on real-world evidence.
The closest medical professionals to the patient and caregiver are the treating physicians and care team who play a key role in understanding the day-to-day challenges—medical, social and personal—faced by those who they treat and provide essential information on how to improve care. Patient foundations and associations are often the voice of patients and caregivers and often bring established relationships with key politicians to the mix. In recent years several caregiver support networks have emerged and have as their mission finding solutions for the missing pieces and acute caregiver needs in rare disease care. One of them is the National Alliance for Caregiving.
“The invisible backbone of our healthcare system is the network of family caregivers who provide complex support with little recognition or reimbursement,” said Jason Resendez, President and CEO of the National Alliance for Caregiving. “At NAC, we’re fighting to build policy solutions that match the scale of their sacrifices—from paid family leave to respite care— because supporting caregivers isn’t just about compassion, it’s about strengthening our entire healthcare infrastructure.”
Other groups who may also have a seat at the table could include insurance payers, employers, social service and academic/industry researchers.
Caregiver policy—long overdue
The 300 million people living with a rare disease weren’t diagnosed yesterday. It has taken decades to amass such an incredible patient base and along the way that same amount of time spent caring for those individuals by caregivers. This has been done with little to no policy directing this group who must rely not on a set of rights or wrongs, but rather by wits, wisdom and heart. The need to establish policies to help support and pilot this assemblage of committed individuals is beyond imminent. It’s now!
The impact of these diseases on individuals and families is profound, and walking the tightrope as a rare caregiver without the safety net of a well-thought-out caregiving strategy below puts patient and caregiver in peril. And if you don’t already know why, let me explain one final time. I’ll be brief.
Without clear caregiving policies, families may be left without sufficient medical, emotional, or monetary sustenance. Finding a solution to any problem starts with admitting that there is, in fact, a problem. This problem is huge.
Caring for and treating an individual with a rare disease with unique and often costly medical needs puts an unspeakable strain on a family nest egg. Plus, when a caregiver must care; they often cannot work and make a salary. A financial aid policy is a no-brainer.
Once an individual is diagnosed with rare (which may come after several misdiagnoses) it typically falls into the lap of the caregiver to seek out information about a disease without any guidance. Having access to disease education and support networks ensures a quicker response to the diagnosis and a better equipped caregiver.
Supporting my wife’s 18-year journey with Parkinson’s has made me all-too familiar with the Byzantine (complicated) healthcare system. A physician friend of mine calls it “feudal.” Not sure where to start with this one. Maybe a baby step in creating a process by which health care professionals can help in tracking down a specialist who might be knowledgeable in a specific category of rare diseases. Once a family has this information, the direction they should take becomes clearer.
I’m ending where I started, in the political war rooms of congress or parliament. Political leaders have the upper hand when it comes to enacting legislative changes that establish policies to ensure that caregivers are buttressed by the necessary resources. You have the ultimate power to put pen to paper and bring the ideas put forth by those groups previously mentioned into reality. Let’s all of us just do our jobs.
We are delighted to welcome Paul Kidwell as a regular contributor and supporter of the caregiver voice throughout 2025. For more information on Paul’ ‘s podcast check out https://www.insickness.org/
