“Rare Disease” Is More Than Just a Day
“It is important for all of us to appreciate where we come from and how that history has really shaped us in ways that we might not understand.” Justice Sotomayor
You might think it odd for me to begin this month’s e-conversation with a quote from a Supreme Court justice. However, this insight has stuck with me since Justice Sotomayor said it during her confirmation process in 2009.
At the time, I remember thinking how this simple statement is so relevant to how we choose our respective life paths, make decisions, and define our values. It also made clear that our own life view may prevent us from having a total appreciation for the experience — and chosen path — of others. We must not be quick to judge.
My own career path began in the pharmaceutical industry as a hospital sales representative for American Critical Care (a pharmaceutical company that no longer exists, having been acquired by Baxter, divested to Dupont, and acquired by BMS — oh my). It was a fabulous experience learning about critical care medicines that could literally save lives.
Those were the days when we ran free in the hospital — catching doctors in the hallway, feeding the residents, doing in-services for the nurses, visiting the pharmacy, and walking through doors marked “Do Not Enter.” In time, I moved into other healthcare companies focused on cardiovascular patient populations (including diagnostics and imaging) before landing in my first Cambridge biotech company, Millennium.
These experiences and others shaped me into a biopharma leader who understood large patient populations. I learned about oncology at a time when combination therapies were evolving, but I didn’t have a deeper insight into rare diseases until much later in my career.
“Rare Disease Day” Is This Month
I share this… as a backdrop to the upcoming Rare Disease Day on February 28 and my continually evolving journey of learning.
I share this… as a reminder to myself and others that it is important to remember where we come from and how that history has shaped us.
I share this… as an exhortation that if understanding rare diseases is not in your history, and yet you are in the biopharma industry, it is worth expanding your horizons and learning more. This will allow you to converse credibly on this critical topic and give voice to the important strategy, policy, investment, and access factors that impact so many patients and their caregivers daily.
Our Understanding Has Expanded
Through our work at The NemetzGroup with many companies developing treatments for rare diseases, together with the inspirational learning here and here from my colleagues who were Genzyme veterans (including Marnie Hoolahan, The NemetzGroup Managing Director), I saw how my early understanding of commercialization in the large cardiovascular, imaging, and oncology arenas was quite different than what it takes to commercialize a treatment for a rare disease.
We now know that:
- Diagnosis can take years for any one patient, and finding patients can be very challenging for a company developing a treatment
- Rare diseases are typically heterogeneous, manifesting differently in each patient
- Each patient is virtually their own clinical trial, and they should be followed for years
- Patients and their families often must work full-time to get the care they need
- Treatments for rare diseases are incredibly expensive to develop, and ensuring patients can access and afford them is critical and not an easy part of the process
- Policymakers and payers play a critical role, and yet they need education — that can take time and, sadly, often requires years of advocacy, battling, and defending
- Even with tremendous progress in some diseases, in The Power of Being Counted, RareX found there are as many as 10,867 rare diseases (most with no treatment), and there’s no “Moonshot” or “Warp Speed” (yet) for rare diseases — incentives for biopharma must be re-evaluated
As I have continued to learn more professionally, I have experienced more patient and caregiver stories in which a rare disease defines their life experience:
- The mom of a Prader Willi’s child who, in order to protect them from life-threatening obesity, must impose a strict diet for her child and lock up food so the child cannot access it. The need to deny food to save one’s child is heartbreaking.
- The parent of a Duchenne’s boy who is hopeful that they can keep walking as long as possible in order to live as long as possible
- The parents of a 3-week-old baby that unexpectedly dies from a genetic abnormality that is not understood until much later
These stories and so many more of heartbreak have touched my empathic mom side in a way that has driven me to understand more about how we can continue to teach others about this area.
As industry leaders, we can make a difference. As humans, we can find ways to support patients, families, and caregivers who live this experience every day.
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