Rare Diseases — It’s All About the Patient

by Marnie Hoolahan, February 2021

Among all the days of the calendar, February 29th is the rarest of them all. That’s why, back in 2008, on the 25th anniversary of the Orphan Drug ACT, EURORDIS (The European Organization for Rare Disorders) designated the last day of February as “Rare Disease Day.”

Its purpose was simple: to raise awareness and drive education among policymakers, physicians, and the general public about the impact these diseases have on individuals and their families.

Awareness is critical. Despite what Kevin Costner may have led us to believe in the 1989 movie “Field of Dreams” (am I dating myself?), when it comes to rare diseases, “If you build it, he will come” does not apply.

Patient Focus Is the Essential Ingredient

I spent nine years working in the rare disease space at Genzyme. I had the honor of working with the best of the best; I learned a tremendous amount about bringing rare disease treatments to market. In the nearly ten years since, having worked as a consultant with The NemetzGroup, in and out of companies focused on rare disease drug and market development, I have an even greater realization about what’s most important.

The consistent and short answer? It’s the patient.

During these pandemic times, where patients across all therapeutic areas have been impacted, imagine how those with rare diseases might have experienced COVID-19 — more fear, more isolation, more worry about the important treatments in development for their condition.

Of course, hopefully, all drug development comes down to improving the lives of those who are suffering from disease. But rare diseases are different; they are called “orphans” for a reason. Because their individual numbers are small, and even though they account for the vast majority of all illnesses, they lack the funding, awareness, and overall support of their larger counterparts.

In my view, effectiveness in rare disease development, therefore, requires a shift in mindset and a different type of commitment across the organization. There must be a focus that transcends all aspects and functions of the company — finance, IT, clinical development, customer-facing roles, etc. — and that is, again, fundamentally about the patient.

But what makes this different? We already live in an industry where it is essential language to communicate a focus on the patient. It is less about “talking the talk” of patient-centricity and engagement and more about investing time, talent, and resources into “walking the walk.” In practice, it means an earlier commitment in two areas in particular: patient advocacy and Medical Affairs.

Patient Advocacy

Patient advocacy is fundamentally about connecting with the patient. That means establishing relationships with patients and their nonprofit foundations (if they exist) and collaborating to develop disease education and awareness efforts. As the term suggests, it means advocating for the patient across the life of their journey with the disease.

The advocacy role works to ensure that patients are actively involved with your company (appropriate compliance caveats noted). They will tell you which educational materials work, and they will be honest about core concepts like trial design (believe it or not, they may not want to have 12 overnight visits in a six-month study). They will also help you develop patient-reported outcomes because they know what things impact them the most.

Not least of all, you will eventually need patients to participate in your clinical trials. In this regard, investing in the advocacy function and establishing and nurturing strong relationships early will serve you well, as patients and their care providers will be able to make informed decisions.

Connectivity to a rare disease community will also provide a passion and boost to your company’s culture as you strive for the ultimate goal: getting a therapy to a patient in need. The single-minded focus on the patient may also significantly reduce some of the bureaucracy of decision-making.

Medical Affairs

The Medical Affairs team is responsible for educating and communicating scientific information to healthcare providers in an objective manner. Over the span of my career, I have seen a shift, as Medical Affairs has taken on more prominence in the scientific exchange. They can have a peer-to-peer discussion with healthcare providers that the commercial team cannot.

There are far too many rare diseases, and physicians generally do not think about them when trying to diagnose a patient who presents with what could be common symptoms. Without a concerted effort to reach out and educate providers — sometimes years in advance of a treatment being available — physicians won’t be aware of the disease, let alone any treatments that may emerge.

The Medical Affairs team is also responsible for developing and maintaining the scientific platform and communicating the foundational story (derived from the scientific literature) for a disease and the products that treat it. The scientific platform is a living document that should be updated when events occur that impact the disease landscape. It guides the entire company on how to communicate about the product, the science, and the disease.

Aligning and developing consistency in the communication with the healthcare providers treating the patients with rare diseases is mission-critical.

When the Drug Fails

My experiences in rare disease have felt fundamentally different than my work in other areas. While the failure of a treatment in development is always disappointing, when one for rare disease fails, it’s emotionally devastating — for patients and professionals alike.

In part, that’s because the remaining options are invariably fewer than with other illnesses. But it’s also because the journey in rare disease development is more intimate by its very nature. You meet the families, you participate (if not spearhead) the foundations, and you get to know the patients and the everyday struggles they endure. In many cases, when a treatment fails, team members stay connected to patients and help in any way they can, going forward.

All that to say that if you are going to lead or participate in this effort, you should anticipate an added emotional investment. For me, that’s been a double-edged sword. When a treatment fails, it’s heartbreaking. But when it succeeds and patient lives are changed for the better — it reminds us why we do the work we do.

In summary, if you are a leader working in a rare disease company or on a rare disease, you may want to reflect on the following:

  • What truly is your purpose for showing up every day?
  • What else can your organization do to demonstrate commitment while also being cautious about not overpromising?
  • When you are long gone from that job/company/product, what will your legacy be?

As for me, this month, on February 28th, I will be thinking about the patients.


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