On a cold, clear Tuesday morning, the State of Massachusetts commemorated the 10th anniversary of Rare Disease Day, which takes place annually all over the world on February 28th, with a celebration at the State House. I was lucky enough to be in the audience that day to hear compelling policy debate, heart-wrenching stories of struggle, and an inspiring call to action that all focused on one thing… research.
We kicked off the day with a discussion on the role of patient advocacy organizations in drug approvals. The discussion, which was organized by MassBio, was led by a panel of researchers, patient advocates, industry experts, and a former FDA director. What followed was a fascinating conversation about the difficult balance between science and empathy that faces rare disease researchers every day. This is the balance between the desire to bring life-saving medicines to market as quickly as possible, and the responsibility to make data-driven, scientifically-sound decisions that ensure only safe and effective medicines make it to patients.
Other key areas discussed were the increasingly significant role of patient advocacy groups in rare disease clinical trial design, particularly in coming up with meaningful study endpoints. Also addressed was the challenge on the sponsor side of balancing the risks and benefits of rare disease drug trials in cross-cultural setting across various parts of the world where risks and benefits may be viewed differently.
Part of the discussion centered on the efficacy standard controversy that we’re all grappling with right now: Should rigorous standards for evaluating a drug’s efficacy be relaxed? Everyone had a different perspective, but when it came to the real question at hand “Is this approach good for patients?” the consensus was overwhelmingly “No.” People felt that regulators need a measure of a drug’s effectiveness in order to approve drugs that improve patients’ lives. Dr. John Jenkins, former director of the FDA’s Office of New Drugs, said this was akin to going backward at a time in history when we know more about medicine than ever before. He questioned the rationality of this idea, and also pointed out that payers would not pay for drugs without proof that they work.
Once the panel concluded, the Rare Disease Day Celebration program began and we heard firsthand how the regulatory challenges we had discussed earlier that morning truly impact those living with and working to fight rare diseases. We heard from neurologist and COO of the Epilepsy Foundation of New England, Dr. Elaine Kiriakopoulos, about how policies like fail-first medicine and step therapy practices – which require patients to take insurance-preferred medications before taking their doctor’s recommended medications – can have serious and even fatal consequences for epilepsy patients. Dr. Kiriakopoulus shared letters from patients and researchers in her organization pleading with legislators to help alter these policies which “severely limit patients’ access to care and cause immense financial and personal burdens,” and asking them to enact safeguards and a process for appeals. She finished with the declaration, “Fail first medicine and step therapy must end! Patients have a right to the best care available.”
We also heard from patients, caregivers, and advocates about what it’s really like to live with a rare disease. They spoke of the isolation and anxiety that patients and families experience when there is no one to talk to who understands what they’re going through. They described the financial, logistical, and emotional challenges families face when having to travel to meet with experts and attend regular doctor appointments. There wasn’t a dry eye in the house when Janice, who introduced herself as a “rare mom,” shared the story of her five-year-old son who has a first-of-its-kind, undiagnosed genetic disorder. She described the fear and uncertainty her family felt going through test after test looking for an explanation, and even the irrational guilt she feels knowing she passed along the genes that resulted in her son’s condition.
Janice and her fellow presenters talked at length about the enormous challenge rare disease patients and families face to learn everything they can about their condition and find ways to support the life-changing research that takes place every day. Janice asserted that she “learned more medicine in five years of being a rare mom than in 20 years of being a nurse.”
Another presenter, Patrick Lacey, shared his family’s incredible story of his infant son’s diagnosis that led him to establish Beat NB (neuroblastoma), which has gone on to fund 19 trials in the US to date. Beat NB has helped bring life-changing therapies to patients in need, including Patrick’s son, who surpassed all expectations when he turned twelve years old this year. Patrick spoke about his first, intimidating immersion in the world of medical research, saying, “Academic medicine is a confusing place to be.” He said that a parent’s role is to be in the room reminding researchers why we’re here and what we’re fighting for.
Finally, we heard patients, legislators, and researchers, alike, marvel at the incredible scientific advances that have been made in the treatment of rare diseases, and the hope they feel knowing how far we have come. Mr. Mark Borreliz, a lawyer and patient advocate who suffers from hemophilia A, described the impact of the many, life-changing advances that have been made in hemophilia treatment over his lifetime, saying, “I am the depiction of what research can do.” Mr. Borreliz also spoke of the importance of awareness events and the recognition Rare Disease Day brings to the rare disease community. Speaking of the inspiration and support he’s received from fellow patients, he said, “Community gives you the ability to be more than one person.”
Mr. Borreliz assured us that, “There is great reason to hope,” and he is right. However, our fight against rare diseases won’t advance without the continued collaboration of countless individuals and organizations around the globe. Dr. Kirkakopoulos challenged everyone to do their part, saying, “Don’t just be inspired, move to action.” Mr. Lacey said he is “excited to see what happens if everyone makes the choice to work together and put the patient first.” No matter what your perspective, Rare Disease Day shows us the incredible impact that is made when patients, caregivers, legislators, physicians, and researchers all work together to bring about real change and improve the lives of patients worldwide. Perhaps moderator Katie Brandt said it best when she observed, “Alone we are rare. Together we are strong.”
Yes, there is hope. We’ve made great progress, and while there is still a long way to go, we are on a mission and we will find cures and treatments for many rare diseases – those known and those yet to be discovered. When cutting-edge science, insights from patients and families, and a caring approach to research come together, successful outcomes are just a matter of time and persistence.