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  • Writer's pictureAventria Health Group

Enlisting Stakeholder Collaboration Throughout the Rare Disease Patient Journey

In July I was invited to attend and present at a Rare Disease Roundtable hosted by Health Catalyst and McDermott Will & Emery. Aventria had been invited to discuss ways to enlist stakeholder collaboration throughout the patient journey.

Perception vs Reality

To start off my part of the rare disease conversation, I showed a slide that I had co-opted from a presentation I’d seen a guy from Google make about the typical digital consumer journey … except I applied it to a typical rare disease patient journey:

The left side of the graphic shows the patient journey in theory that we like to talk about. It’s a beautifully straight line: Patient presents at care setting, gets diagnosed, gets on the right therapy.

The right side of the graphic is what the patient journey really looks like. That beautifully straight line became a gigantic marker scribble. A patient sees on average 7.3 physicians before he or she is diagnosed after several years … sometimes decades. And then there’s the issue of ensuring the patient is on the latest evidence-based treatment for that disease. Most providers don’t have Google alerts set up in case anything changes for any condition their hundreds or thousands of patients might suffer from. A lot of the burden to stay on top of clinical developments falls on patients, whether they’re ready or not. These factors can lead to extreme variability in patient outcomes.

Prevalence of Rare Diseases

This is a major problem because there are approximately 7000 rare diseases that affect 25 to 30 million people in the US. That’s about 1 in 10 people, many of them children. The bad news is that many of these diseases are life threatening or life limiting. The good news is that some of these diseases have cures or at least therapies to manage the condition or reduce symptoms. However, trying to raise awareness is uphill sledding.

Stakeholder Collaboration Is Essential

The challenges of a rare disease almost always require stakeholder collaboration to solve. Most rare diseases present with an array of symptoms within the domains of various specialists—a neurologic symptom here, a cardiovascular symptom there, some sort of rheumatoid complaint all rolled together with poor kidney function. If care is not coordinated and multidisciplinary, patients stand a very poor chance of getting diagnosed, let alone appropriately treated.

Provider organizations beyond Academic Medical Centers and Centers of Excellence (COEs) need to be able to diagnose rare disease patients, or at least know enough to suspect a diagnosis and send the patient to a COE for further help. But even beyond a provider organization fostering care coordination and physician collaboration within its own four walls, the diagnosis and treatment of rare diseases almost always involves other stakeholders within the patient’s health care continuum as well.

Payers, meaning insurance carriers or employer decision makers, need to pay for evidence-based approaches. Pharma needs to be cognizant of reasonable pricing in line with the value of the product. And the patient or the patient’s caregivers must be empowered to play care quarterback, navigate a financial minefield, and pack-mule around a carton of medical records to different provider organizations who still have not prioritized patients over business—and over legal concerns that basically are excuses for business concerns. (Oversimplified? Yes. True? Yes.)

My Experience With a Rare Disease

One of the reasons I’m so passionate and aware of the challenges facing rare disease patients is that I was one. If you don’t have personal experience with what it takes to get diagnosed and hopefully treated for a rare disease, maybe my story will be illuminating.

I had an adrenal tumor, which resulted in a condition called Cushing disease. I knew something was wrong. Having an adrenal tumor feels like you just drank 8 cups of coffee. Every day. Every minute. I was up in the middle of the night, every night, doing things like installing shelving, painting the living room (again), and watching Pants-Off Dance-Off marathons on Fuse. Although I got a lot done, my blood pressure, some liver enzymes, and cholesterol were through the roof.

Doctor after doctor told me things ranging from “this is what happens when you turn 30 and figure out that life can be stressful” to just treating the symptoms and never wondering why a normal weight 30-year-old would have blood pressure in the red zone. There was even speculation that the bruises all over my legs and arms (you’re easily bruised when you have quarts of adrenaline in your bloodstream) were likely because “you get up in the middle of the night and don’t realize you banged into the furniture.” Long story short, my mother, who has no medical training, diagnosed me using Dr. Google.

I went to a doctor and told that doctor what tests I wanted to confirm the diagnosis. I had to fight to get them.

I don’t relate this story because it is unique. I relate this story because it demonstrates the difficult realities about rare disease that we need to solve for.

Confounding Factors Facing Provider Organizations

  1. Provider organizations are drowning under a deluge of urgent priorities. Almost a third of the country has some sort of metabolic disorder like diabetes. Then there’s quality measures and MACRA and HCAPs and EHR upgrades and reimbursement changes and the opioid crisis …

  2. Diagnosing and treating rare disease patients often requires coordination among several specialties or departments. Often rare diseases have symptoms in one domain but a root cause in another. In my case, for example, I got sent to a cardiologist and a hepatologist who each compartmentalized my symptoms. Meanwhile I had an endocrine disorder. So it’s often figuring out how to get a bunch of departments and specialties aware and willing to coordinate.

  3. Any given provider organization can probably count on one hand the number of patients with a rare disease who might wander through their doors. That’s why they call it “rare.”

Can Patient Advocacy and Pharma Be Influential?

What do these factors mean to a patient advocacy organization or a pharma company with a new drug to treat a rare disease? It means that marching into the decision suite at a provider organization and asking them to exert extensive effort to better diagnose and care for the few patients who might present is unrealistic. It’s not that the organization doesn’t want to. It’s a matter of opportunity cost. Choosing to put resources on this will hinder other efforts. The pool of resources doesn’t get bigger, so doing one thing means something else isn’t going to get done.

This is not true for Pharma, however. Pharma might be the one stakeholder in rare disease who has the motivation, the critical mass of patients, the disease expertise, and the wherewithal to help facilitate scalable change at provider organizations to help patients get diagnosed or get evidence-based treatment.

Advice to Pharma Companies With Rare Disease Drugs

Are you looking to help provider organizations recognize the value of collaborating around improved outcomes for rare disease patients? The following ideas are targeted at integrated delivery networks (IDNs) or larger provider organizations, but many can be applied to smaller provider organizations or other stakeholders in the health care continuum as well.

1. Look to create a collaboration that systematizes identifying patients and treating them appropriately. At the C- or D-suite level at a health system or IDN, it’s less about an individual patient and more about a population of patients and how that population of patients impacts the objectives and revenue of the hospital system. At the organizational level, what matters is evidence-based medicine: how a medicine or therapy impacts a patient population or cohort. At the individual physician level, it’s more about medicine-based evidence. What’s relevant is what will happen to this patient sitting in the exam room after taking the drug or other therapy. Going into the decision suite at a provider organization and not realizing this is not a plan for success.

2. The effort required to collaborate must be less than or equal to the perceived reward. You can’t ask someone to expend more in capital, labor, or time than they think their organization or their patient population is going to get out of it.

What Pharma needs to offer up is more than the molecule. Pharma needs to offer a customer experience that is simple and elegant for a provider organization to onboard.

The questions I often ask pharma organizations:

  • How are you making it easy for provider organizations to triage patients toward a diagnosis?

  • How are you making it easy for the treatment to be administered?

  • How are you making it easy to manage side effects, patient concerns, or adherence to the regimen?

At a minimum, usage of the molecule will depend on what you do here.

3. Help account managers develop collaborative relationships. To loosely quote Kevin Trokey: “As soon as [an IDN leader] senses you are there to push your agenda rather than further theirs, game’s over; you lose.” See 5 Brand Growth Myths: Impediments at Large Provider Customers for insights.

4. Include clinical trial endpoints in the package insert that reflect institutional and/or payer needs. These can include time to rare disease hospitalization and/or rehospitalizations, Medicare quality reporting programs, inpatient quality reporting, ACO/APM, MIPS, etc.

For More Information

Listen to Relentless Health Value podcasts on developing collaborative models:

Listen to Relentless Health Value podcasts on customer experience:

Or visit and check out the benefit corporation I’m co-president of and what we’re doing there.

Making a difference in patient care by helping patients, providers, and payers collaborate on shared priorities

— Stacey Richter is co-president of Aventria Health Group.

The views and opinions expressed are those of the author and do not imply endorsement by Aventria Health Group.


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