January 27, 2020: The Personal and Public Health Imperative of Rare Diseases

One night of my neurology residency changed my life and set me on the path I have followed ever since. I was on duty in the neurological intensive care unit (ICU) when a patient on a ventilator with end-stage amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) was brought in by emergency medical technicians (EMTs). This was not unusual, as most ALS patients die when the muscles that power breathing stop working. What was unusual was how furious this patient obviously was. Although he could not speak or gesture, his eye muscles—typically spared in ALS—allowed him to fix his eyes on me, the nurses and the EMTs with evident anger at not being allowed to die in his home as he wished. Now in the ICU, he demanded to be taken off the ventilator immediately—a step that would almost certainly lead to his death. As is typical for patients with this rare disease, his thinking was completely lucid; he knew what he was asking. After consulting with his attending physician, his large extended family joined him in his room, and I took out the breathing tube and turned off the ventilator. For the next three hours, his family and I sat together in his room while he gradually went through the inevitable stages of asphyxia. He turned blue, then ashen, and then lost consciousness; his heart slowed, became irregular and finally stopped. After an excruciating vigil, this man I had never met before, who was father, husband, uncle, and friend to many, and who was afflicted with a rare disease for which there was—and still is—no effective treatment, had at last exerted some measure of control over the cruel disease that had taken his life.

In those three hours, sitting with this man and his family, I became as filled with rage as he. “There has got to be a better way,” I thought. I decided that night to devote my career to creating that better way—to creating a world in which the amazing scientific discoveries that were happening in ALS and so many other diseases would reach the people affected by them. My commitment remains unchanged, powered by my memory of this man and too many others like him—and, yes, by the “rage” that the world does not have to be this way, and should not be.

Since that night over 30 years ago, I have come to realize that rare diseases, while intensely personal, also are an urgent public health issue. The juxtaposition of the words “rare” and “public health” may seem a contradiction, but in fact more than 25 million people are living with rare diseases in the United States alone—about the same number as those living with diabetes. Rare diseases disproportionately affect children, and the vast majority have no U.S. Food and Drug Administration–approved treatment. This accounts for an enormous burden of suffering and premature death, not to mention financial and economic productivity losses to families, communities and the nation.

Focusing on, and sharing solutions to, this personal and public health imperative is what Rare Disease Day is all about. Again this year, NCATS is privileged to host Rare Disease Day at NIH on February 28 with our partners at the NIH Clinical Center, and I hope you will take part in person or tune in to the live webcast. Registration is now open, and I hope you will join us.

At Rare Disease Day, you will hear remarkable stories of scientific, medical and systems-level advances that demonstrate the progress NCATS and our partners are making to realize the world we all know is possible for rare diseases. As the event nears, please consider reading two amazing publications that have come out in the last month from NCATS and our partners: The first summarizes the current state of progress in rare disease diagnosis and therapy development; the second emphasizes the global nature of rare diseases and the international collaborative research efforts required to address the global effects of rare diseases on public health.

“There has got to be a better way.” Together, we are realizing that better world for people living with rare diseases. Please join us on the journey.

Christopher P. Austin, M.D.
Director
National Center for Advancing Translational Sciences