Rare Disease Day Heroes 2022
My journey with rare disease began almost twenty years ago when my uncle was diagnosed with a genetic disease none of us had ever heard of – Vascular Ehlers Danlos Syndrome (VEDS). At the time, we never could have imagined the impact it would have on our family, and that we would end up with eight positive diagnoses and be forced to say goodbye to five loved ones far too soon. In 2014, we turned our frustrations with the lack of awareness and treatment options into advocacy. That advocacy became the DEFY Foundation, which continues our efforts to raise funding for desperately needed research initiatives and to support the scientific community today.
At DEFY, we have a saying that has been central to our work – “living fearlessly.” A rare disease diagnosis can come with a great deal of fear and uncertainty, but learning to combat this fear of the unknown and not allowing it, or my diagnosis, to define me or my decisions has been integral in my own experience. Living fearlessly is a daily choice that is not always easy, but when we are able to do so, we can find a new level of freedom to live more fully and look forward to the future with hope instead of with hesitance.
It can be easy to become frustrated as a patient in the rare disease community and feel as though you are being forgotten or overlooked. What we have had the opportunity to see first-hand through DEFY, however, is that the clinicians and researchers working on these diseases are doing so tirelessly, with incredible passion and dedication for finding the answers that will make a difference. Their work is creating tremendous momentum and, in doing so, renewing patients’ hopes of a treatment or cure being within reach.
What is most exciting to me about what is happening in rare disease today is that so many patients are finding hope – some for the very first time. This is certainly true in our VEDS community, where there are two clinical trials on the horizon that could lead to the first approved treatment for the disease.
Ryan Sheedy and his son, Reynolds
THE DYNAMIC DUO
Our journey with rare disease started when our twin boys were born. One of the twins, Reynolds, had many complications at birth and in the 1.5 years leading up to his Costello Syndrome diagnosis. Costello is one of the rarest of the rare diseases and is part of a group of syndromes called RASopathies. It is a genetic disorder that affects many systems in the body. There is no cure for Costello and it requires a lot of management. Reynolds is 4 now, and has spent his life in and out of hospitals for treatments and procedures. He’s currently seen by 25+ providers, has quarterly cancer screenings and has gone through more surgeries/procedures than most will in their lifetime. All that being said, he’s the happiest and most determined kid you will meet. They call him the mayor at school and therapy.
Being a caregiver is hard, but he’s the reason I push on. Remembering all of his info from his providers and procedures is what drove me to start mymejo.com, because I knew I wasn’t the only one.
Since there are only less than a thousand people (mostly kids) living with Costello, we rely heavily on connecting with families in the Costello Syndrome Family Network and learning from each other.
I love connecting with new families who are just starting out on their rare disease journey. Over the past few years, I have learned so much from others and it’s my new mission in life to connect with families and help wherever I can. A simple, “I’m here if you ever need to talk” can go a long way.
One of my favorite quotes is from Patch Adams:
“You treat a disease, you win, you lose. You treat a person, I guarantee you, you’ll win, no matter what the outcome.”
I think this quote speaks to people who live with a rare disease in that I may be rare but I am human. I am more than my diagnosis. Treat “me” first. Condition second.
I’m most excited about awareness in general with regards to rare disease. As more kids get diagnosed with rare diseases it’s becoming less rare to know someone who is rare. We are grateful for those rare individuals before us as they were pioneers paving the path.
Despite being a physician married to a physician, my Parsonage Turner Syndrome (PTS) went undiagnosed for years. Because of PTS, I experienced painful attacks for more than 18 years before I found a neurologist who took the time and care to establish a diagnosis. Meanwhile, completely unaware that I suffered from a rare disease, I was busy trying to help others in a similar position because my responsibilities at the FDA included oversight for rare and orphan diseases.
With the increased focus on rare diseases comes the increased understanding that developing treatments requires approaches very different from those needed to develop therapies for more common diseases – and the knowledge that we will not achieve perfection, but we will achieve progress.
My work has made me increasingly passionate about ensuring that all those impacted by, or working in the field of, rare diseases learn from the HIV activists and become scientific and societal experts in their clinical field – and that we all partner by sharing information, data and evidence so that we can speed access to therapies.
Do not become discouraged – HIV went from being a uniformly fatal disease to a chronic disease in approximately 15 years; HCV became a curable disease within 15 years of identifying the virus. Don’t accept no as an answer.
I am currently the Senior Director and Head of Patient Advocacy at REGENXBIO Inc., a leading gene therapy biopharmaceutical company with a culture that values community involvement and puts patients first. I have worked in this industry for 25+ years and have many years of experience in patient advocacy and rare diseases, which has given me a unique perspective and appreciation for the critical role that patients and families play in helping optimize and accelerate the development of new therapies.
It’s exciting to work in the gene therapy space, an active area of research that is progressing so rapidly. There is a great deal of optimism and hope for gene therapy, for the potential of a one-time gene therapy treatment to impact so many different rare conditions that currently face limited or life-long chronic treatments.
I’m also excited to see that the number of clinical trials in rare diseases has increased dramatically in recent years. Today, some rare diseases that had no potential prospective treatments just a few years ago have multiple potential therapies in the clinic.
I believe it will take industry working together to advance adeno-associated virus (AAV) gene therapy to its full potential and address current challenges. That’s why REGENXBIO teamed up with Solid Biosciences to launch the Pathway Development Consortium. Recently, this Consortium published a white paper which proposes a framework to facilitate the use of the FDA accelerated approval pathway to expedite patient access to AAV gene therapies. REGENXBIO is also proud to be a part of the Bespoke Gene Therapy Consortium, a complementary collaboration also aimed to advance the field of AAV gene therapies for ultra-rare diseases.
I am passionate about contributing in a meaningful way to the rare disease community and advocating for what’s best for patients and families. I encourage others working in rare disease to stay involved and passionate about their work, because their voices matter and can make a real difference for patients and families and help ensure future therapies meet their needs. Stay inspired by the resilience of this community and never give up.
Being able to experience and engage with such a diverse group of organizations is one of the things that I love the most about my role in Patient Advocacy. It’s important in my role to promote communication and collaboration, avoid duplication of efforts where possible, and leverage individual groups’ strengths and relationships to make an impact. We don’t have the luxury of time in rare. We need to work smart and move quickly because families are counting on us.
In 2012, our son was diagnosed with Duchenne muscular dystrophy, which altered the course of our entire family’s life. We moved our family from London to Boston to start a drug development company, Solid Biosciences, focused on developing meaningful therapies to improve the lives of all patients living with Duchenne. Solid is now 8 years old, based in Cambridge, MA, with 150 passionate and dedicated employees. My husband, Ilan, and I have been fully immersed in the rare disease ecosystem for nearly a decade, and it’s challenging to remember life before Duchenne. My silver linings on this rare disease journey include the privilege of getting to know so many extraordinary humans and the life-enhancing gift of perspective.
Upon receiving our son’s diagnosis, I was consumed by a deep and dark level of sadness I had never experienced in my life. My days would be consumed by constant flip flopping between anger, sadness, and grief. I was grieving the life I had anticipated for my child. How dare Duchenne rob him of living a long, full life? The negative energy ate away at me until I received the most sage, critical advice to take each day as it comes, to live in the present and stay positive. That was a turning point for me: it allowed the diagnosis fog to lift and the ability to focus on the wonderful child I had right in front of me.
There is no escaping life with rare disease, it affects our lives in numerous ways every single day. As a family, we make every day count for our son and two daughters; we live life fully and have tremendous gratitude for our friends, family, community and colleagues.
I am excited about the industry’s shift in the past several years to genuinely incorporating patients’ and caregivers’ voices and perspectives into drug development efforts. Patients are the greatest experts in their disease. What matters most to patients MUST matter to drug developers in order to truly impact patients’ lives.
I believe in the power of collaboration and how stakeholders can move the needle for patient communities by working effectively together. I am thrilled to be part of the Pathway Development Consortium, a partnership of patients, advocacy, industry, regulators, academia, payers and other stakeholders to construct an ideal pathway to ensure that all born with serious genetic conditions can find their way to effective AAV gene therapies.
Also, I am passionate about using my voice and experience as a Duchenne mom, and the platform I have leading patient advocacy for Solid Biosciences, to do everything possible to make a positive and meaningful impact for the Duchenne community. Because of this, I have the pleasure of speaking with non-profits every single day. There are far too many advocacy groups to name and thank here, but they are doing tremendous work around the globe. Since diagnosis, I have been blown away by the support we’ve received and the decades of ground-breaking efforts to accelerate research. Advocacy groups continue to be instrumental in shaping policy and legislation, developing standards of care, creating and managing patient registries, bringing families together and supporting them in ways they need it most.