By Christine MacCracken, Janssen Pharmaceuticals
Author's note: First, I hope you and yours are well and in a safe place. If you or a loved one are directly impacted by COVID-19, as more than 900,000 around the world are at the time of this publishing, I wish for recovery, both physical and spiritual. When I submitted this piece, the word “corona” had a very different meaning — a celestial ring, a crown. It would have been impossible to know how this one word, ultimately denoting COVID-19, would bruise us all in one form or another.
The shock and discomfort of a “new normal” from this disease underscores what families dealing with rare and serious illnesses confront on a regular basis. During these uncertain times, the need to advocate and give care are paramount for so many — patients, caregivers, healthcare providers, the list goes on. When we get past the worst of the current crisis, there will be many lessons learned, some more difficult than others but essential for our future. Right now, I hope you may draw some inspiration from the lessons imparted to us by Andrew and his son Isaac...
Last year, Lori Abrams and Amy Butler wrote a powerful piece about navigating the clinical trial process. Among other traits, the article shone a spotlight on the tenacity and grit that self-advocacy sometimes requires. Being a patient can be a full-time job — one that no one volunteers for but one all of us will have at some point. As with all responsibilities, support is essential for a patient and having an advocate or caregiver (ideally, both) can be transformative.
Early in my nursing career I learned durable lessons regardless of other roles I am privileged to have had on behalf of patients. Being an advocate is not necessarily speaking for someone but helping them find their voice in situations where they could potentially be overlooked. Whether in clinical practice or advocacy related work, the ability to learn from people who are patients and those who care for them is both educational and inspiring. Over the last five years, my focus has largely been on elevating voices in the compassionate use setting. This means hearing and heeding those voices to ensure we are doing what they need us to do for them, not what we think they need.
I’d like to introduce you to a force of nature who, like other caregivers turned advocates, began with a commitment to one patient in his family but quickly expanded his devotion to other patients with rare diseases and their families. I am humbled and honored to introduce you to Andrew McFadyen — founder of the Isaac Foundation. Andrew is a husband, a father, and an advocate who tirelessly works to advance actionable dialogue around access, care, and policy for patients with rare diseases. He is also a former eighth-grade teacher, which likely helped prepare him and his family for unpredictable life lessons.
Recently, I had the opportunity to chat with Andrew about the unique challenges that patients and their families face when dealing with serious illness and how we may better serve their needs.
Christine MacCracken: Andrew, for readers who may not be familiar with your story, could you share how you came to be such an ardent advocate for patients and families with rare diseases?
Andrew McFadyen: Well, like many people who find themselves advancing needs of patients, I came into this world due to need, not by choice. At 18 months of age, my son was diagnosed with a very rare and very debilitating disease called mucopolysaccharidosis type VI (MPSVI). At that time, he was only the third person in Canada diagnosed with the disease, with only about 1,100 cases suspected worldwide.
In those early days, we were lost and didn’t know what to do. We were told our son would live a life of pain and suffering, with virtually every bone, tissue, organ, and muscle in his body being ravaged by the disease. We had nobody to talk to or turn to for help. After a few weeks of feeling sorry for ourselves and our situation, we decided that Isaac wasn’t going to get any better with us just sitting around and waiting for him to die. So, we decided to do something — take action — and we started our little organization called the Isaac Foundation. We had a goal to find a cure for his disease — lofty, I know — but the creation of the Isaac Foundation also came with a promise I made to my son, and that was that no other family would have to do a journey like this alone. Ever. Since then, I’ve striven to live up to that promise, both to ensure we could find that cure and to be alongside patients in need, whenever and wherever they need us.
MacCracken: Last year your family made a journey abroad to obtain access to a clinical trial. What was that experience like?
McFadyen: We had been funding the research into this gene therapy trial for well over a decade. We knew the data, we knew the promise, and we’d been preparing for this eventuality for a long time. But when it came time to decide whether to enroll or not, we made sure we went through everything together — not just my wife and I, but my wife, Isaac, and our other son, Gabriel.
Moving to another country for six months is a big deal. We had to take leaves from our jobs, we didn’t speak the language, and we had to consider school for both kids (it was a graduation year for Gabriel, which made the decision even more difficult). Arbitrarily making this decision as parents would have been unfair to the kids and our family as a unit, so we made sure we worked through things as a team. When we were over there, we continued to make decisions together: Where do we live? What will we do with our time? How can we work to fit in with our new lives? Everything would have been more difficult — virtually impossible, I think — if we were on different pages.
We also made use of all resources at our disposal as we tried to make these decisions. Offers of help were given, and we took them. All of them. We worked with patient advocates to gain as much information about the trial as possible. We worked with community members and friends to become as prepared as we possibly could be. Clinical trial participation is hard for patients and families alike. But it’s always made easier if you let yourself accept the help that is offered.
MacCracken: What can other clinical trial leaders learn from your family’s experience and what advice would you offer?
McFadyen: We were very lucky that the leaders of our clinical trial have had a relationship with us over the course of the past decade, and we could help set up the trial in a way that was patient-oriented and ready-made for international patients (we’ve already sent another Canadian family over for the trial, who have come back home after successful infusion, and we have a third family ready for imminent infusion as we speak!).
For leaders of other trials, I think it’s imperative that they make these trials as accessible as possible for all patients in need, whether they are coming from other countries or are local to the trial location. It’s important that there is someone available to patients and families full time to answer questions, help with travel and accommodation, help with visa requirements or immigration forms, everything.
Most vital is to ensure that the informed consent process is as robust as it can possibly be. I often tell the story of watching the primary investigator sit on the hospital bed with Isaac, his hand on Isaac’s knee, answering questions for what seemed like hours on end, day after day after day. This is true informed consent — a non-rushed process that spans as long as it’s needed, with every question being answered as thoroughly as possible. We often talk about investment in clinical trials to ensure they are done properly, but part of that investment has to be an investment in physician time to ensure proper and thorough informed consent. Clinical trial leaders across the globe can learn a lot from the team in Italy, and I truly feel the success of this trial so far has been due to the time taken by these physicians leading up to the actual infusion.
MacCracken: In your years as a father of someone with a rare disease, how has your voice evolved from the early days to today?
McFadyen: For whatever reason, we’ve been a voice that’s had a lot of attention paid to it over the years. Perhaps because we strive to always speak with honesty, transparency, and passion; I don’t really know. At first, I don’t think I realized how much weight our voice truly had, or the impact it had on our mission, and I don’t think I spent enough time honing our messaging to ensure it had the most impact it could have — not only on our mission at hand, but on our future direction as an organization working to make change for patients in need.
In our early days, we felt that everyone was against us. Being alone at the start of this journey probably had something to do with that feeling, and knowing your child is facing a life of pain and suffering didn’t help. Add to that our government here in Canada denied Isaac access to the life-sustaining treatment he needed due to its expense, and the pharmaceutical company declined to provide access to him on a compassionate use basis.
So, our early voice was one of anger and frustration, of desperation and fear. It helped us accomplish our primary goal of getting Isaac the help he needed, but it really didn’t help make the systemic change required so that Isaac could get help and other patients in similar situations could also get help, let alone future patients in need. That early anger and frustration was a voice that governments simply wanted to silence by giving us what we wanted. Over time, it became clear to me that broader change required a voice that wasn’t always pushed to be silent, but one that folks wanted to listen to in collaboration, one that could participate in helping craft change. That didn’t mean it was any less passionate, just more open and forward looking, I think.
Once I realized that broader change was possible working in collaboration with all stakeholders — patients, industry, government, academia — it didn’t take long to realize that everyone wasn’t against us, not in the least. Sure, some pharmaceutical companies are unethical and immoral, but not all. Indeed, many are working hard to ensure patient needs are being met and evolving in the space to truly put patients first. Here in Canada, there are many politicians and bureaucrats who want to ensure patient needs are being met as well, and juggling the needs of both current patients and future patients while ensuring the sustainability of our healthcare system is a very difficult job. They need careful collaboration with organizations like ours to help make that happen, and the vast majority of jurisdictions here are open to that collaboration and partnership.
MacCracken: And how has Isaac’s voice evolved? He’s been through more than most adults.
McFadyen: As for Isaac’s voice — I think he’s just finding it now. It took time for me to realize that I can’t, and I shouldn’t, speak for him. His experience as a patient is so valuable, and his story can only be fully told by him alone. He has a powerful message and so many lessons to teach us in this world due to his experiences, and I’m excited to see how he uses his voice for a greater good over the years.
MacCracken: Talk to me about how your family’s experience has changed and continues to change the dynamics.
McFadyen: We’re stronger for what we’ve been through. We’re better for it, I believe. We have a real sense of perspective in this world that I wish everyone had but would never wish the process of getting that perspective on anyone. We’ve been to places no person should have to go and seen things that have forever scarred us.
A few years ago, we almost lost Isaac. Well, we did lose Isaac, and they brought him back to us, with my wife and I pushed out of the room as they worked on him. That experience taught us that every second matters in this world. Every ounce of life and time that you get to spend with those that you love is important, and we should strive to make that time as meaningful and beautiful as possible. I thought we did that before Isaac’s “code blue” but realized only afterward that we didn’t do it enough. But we do now.
MacCracken: I like to say, “every patient is a person first” — which underlines the fact that being a patient may be part of someone’s identity but it’s never the identity. How does this resonate with you if you consider your collective experiences as a caregiver and an advocate?
McFadyen: This is so very true, and it’s a message that we try to drive home at every opportunity. I try to correct that whenever I hear things like “that MPS family” or “the autistic child” or “the cancer survivor,” whatever the case may be. The real langue should be “the family battling MPS” or “the child with autism” — the identification and language changes, or it should change. Our patients and families aren’t who they are because of their condition, they are who they are in spite of it. And we work to celebrate their true identity as much as possible.
I have a remarkable colleague, Alexandra Hall, who is incredible at shining the light on these patients and their stories, crafting a great awareness initiative during Rare Disease Month. She tells the world about the kids that we work with and love, about their strengths, what makes them them, why they are special, and why they matter. And oh, by the way, they are also fighting this disease at the same time. It’s really a genius approach to highlighting the people who make up the world of rare diseases, and I think more organizations and companies should take this approach of celebration.
MacCracken: So, with all your experiences to date, what would you say pharma is doing “right” and how can we do better?
McFadyen: In the work that I do, I see a lot and meet with a lot of folks in the pharma world. And like every industry, some are working to do things right, while some still can’t grasp the need to work their way through this world with a strong moral compass and an ethical road map toward success. Unfortunately, it’s a select few that give Big Pharma its persona, and I’ll continue to make it my mission to work with those companies to help ensure they become better corporate citizens for patients in need.
But there are some companies doing things incredibly well and evolving alongside the ever-changing landscape in terms of access to medications for patients in need. Broader communication with patients and patient groups is a must, and the better companies are doing that well. Honesty and transparency are vital, alongside proper communication about programs, pipelines, and future plans.
I think the companies that are making the biggest difference for patients right now are the ones investing in healthy and truly accessible pre-approval access programs, ensuring that as many patients as possible can access potentially life-saving medications as early as possible, so long as it’s safe and effective to do so. Companies doing well right now are those that include patients as early as possible in the drug development process — long before clinical trials are set to take place, but also long after trials close and commercialization has taken hold. Companies that put the focus on patients — those that truly do it through practice rather than simply through words — are the ones making a real difference in the world right now. And I’m proud to see that happen and proud to play a small role in ensuring that practice becomes more widespread across the industry.
Lastly, Andrew and I discussed the fact that no one can understand a patient’s or caregiver’s experience unless they’ve walked the path, but I asked him what he wants us to know. Essentially, he asked that we remember what we have and live for today. After spending significant time trying to save Isaac’s life, he realized he was missing good things that were still happening. He wanted to enjoy the time, whatever it was going to be, with Isaac, so he made the decision to leave his position as an eighth-grade teacher so he could do both. Andrew may not be standing in front of a class anymore, but I think you’ll agree that he is still doing plenty of teaching. I’ll leave you with one of his lessons: “Your time with loved ones is beautiful. And meaningful. Every second together matters. Take it all in while you can — all the good and the bad moments, the pain, and the joy — because it doesn’t last forever.”
Well said, Andrew.
About The Author:
Christine MacCracken, MSHEd, BSN, is director, Patient Strategies & Solutions in the Global Medical Organization, Office of the Chief Medical Officer, at Janssen Pharmaceuticals. In this role, she is responsible for developing and implementing patient-centered programs to support and elevate critical needs of people around the world. She is a passionate advocate for patients and operates by the tenet that “every patient is a person first” In her current role, Christine is focused on identifying and co-creating ethics based solutions related to expanded access and other critical patient needs.