When Lightning Strikes: A Rare Disease Day Reminder
Rare Disease Day falls each year on the last day of February – this year, on the rarest day of Leap Day – and offers each of us around the world the opportunity to reflect on the truly unique struggles of every child and adult living with a rare or ultra-rare disease. For these patients – half of whom are children – time is of the essence. The celebration of this day each year renews their hope and reminds them that they are not forgotten.
The scientific drive to meet the unmet needs of Americans suffering from rare diseases has thankfully never been stronger. Of the 850 orphan drug approvals granted by the FDA since the implementation of the Orphan Drug Act of 1983, more than 250 approvals (or 30%) have occurred in the past three years. And while there are 7,000 known rare diseases and a long road ahead of us, this scientific pace is breathtaking.
But this progress can be potentially disrupted by the current debate over the important task of lowering drug prices. In this process, policymakers must remember to first do no harm and that the innovation of first-ever treatments, especially for ultra-rare diseases, is fragile and was not fully realized until recently. It is easy to regress with well-meaning solutions to other drug problems. It is also important to remember that rare disease impacts Americans far beyond the individual patient; whole families, friends, coworkers, and many passionate voters are affected when these diseases strike.
While scientific advancement has been remarkable, the most life-changing moments for the rare disease community occur not in laboratories but in living rooms across our great country. The diagnosis of a loved one can feel like a bolt of genetic lightning that abruptly transforms their future and their way of life. That moment also marks the beginning of a transformation of families toward an unexpected but steadfast devotion to making their afflicted daughter, son, or spouse’s life even a little bit easier. It is a devotion, which, out of compassion, naturally extends to the lives of all similarly affected patients. So many of us in the medical community have stood on the front lines with these families and have seen firsthand the enormous impact a diagnosis can have.
Ensuring access to life-saving treatments and therapies for patients and their caregivers is what drives us. We know the urgency of their hope and understand that their tomorrow is today. Arriving at the moment when we can support the patient and their devoted family with a treatment plan requires large amounts of funding, constant research, countless hours of testing, and, above all, a public policy environment where discovery and innovation can flourish.
Policymakers have rallied to this calling in the past with forward-looking policies that paved the way for medical and scientific advancements to treat rare diseases.
Before President Reagan signed into law the Orphan Drug Act of 1983, basic economics made it nearly impossible for innovators to justify meeting such a small market need. But this law changed everything by creating incentives that offered innovators an unprecedented green light, and the results have been extraordinary. The number of approved new drugs for rare diseases since 1983 has gone from dozens to hundreds, and those who previously had embodied the “forgotten American” were given hope.
For example, consider a young patient with the rarest form of Mucopolysaccharidosis, MPS VII or Sly syndrome. MPS VII is a rare genetic progressive condition that affects most tissues and organs. Because MPS VII is thought to affect only several dozen Americans and approximately 200 people in the developed world, no manufacturer before the Orphan Drug Act would ever pursue the costly research, trials, development, production, and promotion of treatment for such a disease on its own. But thanks to the collaboration between our scientific ambition and smart federal policy, a drug to treat this extremely rare disease was approved in 2018 and is helping those patients today.
Good policies that spur innovation and allow us to keep our foot on the gas pedal are just as important as the absence of bad policies that would slam on the breaks. Policymakers should consider that a one-size-fits-all approach to drug pricing reform could easily fail to preserve the drive for life-changing innovation and consequently harm patients, even costing them their livelihoods. Passing sweeping new regulations merely in the spirit of “doing something” while not acknowledging the unique circumstances of Americans with rare diseases would be utterly reckless, and possibly deadly.
Strengthening and modernizing the Orphan Drug Act and enacting reforms to expedite the FDA approval process for certain generic drugs would help lower costs by increasing market competition. On the other hand, proposals like International Price Indexing – which groups ultra-rare disease biotech firms with every other major market drug maker – would be counterproductive and likely crush the funding for early-stage biotech development of rare disease treatments.
For the day to come when every rare disease patient suffers no more, we need policymakers in Washington – from the White House to Congress – to be informed by the past and inspired by the future that can be achieved by not disrupting policies that are working for rare disease patients, their caregivers, our scientists, advocates, and our nation.
Dr. Emil Kakkis is CEO and Founder of Ultragenyx Pharmaceutical Inc. and a board-certified pediatrician and medical geneticist from UCLA.
