Rare Diseases: From Peril to Progress

More than 90 countries around the world are recognizing Rare Disease Day today by acknowledging and giving voice to the bravery of those who struggle without recognition every other day.

We remember the many we’ve already lost because we were unable to treat them in time. But we also celebrate the tremendous progress that has enabled us to save so many with treatments that were once unthinkable.

One of every 10 Americans is affected by one of 7,000 rare diseases, and half of all patients are children, many of who will die before they turn 5 years old. Though these tragic facts may not be personally felt by each of us immediately, with 10 percent of our nation’s population already affected, we will all be touched at some point in our lives when we least expect or desire it. Then what?  

It is then that we will want what every rare disease patient wants: to be heard, recognized and clinically supported and to have a specific treatment developed. All of us — patients, families, scientists, industry and government — have a critical role in making this happen, and our responsibility to making this happen must be foremost in our minds, separate from political battles that distract us from our true goal.

Because of their nature, rare diseases used to attract minimal research and clinical care attention. For a very long time, with barely any financial backing, individual isolated researchers, along with patients and their families, faced severe challenges in researching and understanding these diseases, let alone trying to treat them.

To this day, it’s a simple rule that the more we know about a rare disease, the more likely it can be treated — however, only 5 percent of all rare diseases have a Food and Drug Administration-approved treatment. We have made important progress in the last few years with multiple modes of treatment, but still the diseases with specific approved therapies are very few.

As a geneticist and a pediatrician, I have had the incredible opportunity to not only study rare diseases and develop treatments for some of their rarest forms but also to help patients with life-changing treatments when there was previously no hope. There is nothing more powerful and uplifting than being in a room with a family when the affected child is being treated for the very first time. As founder and chief executive officer of Ultragenyx, I started a company built specifically to treat rare and ultra-rare diseases in order to continue to create these moments for patients and their families.

Fulfilling a personal and professional commitment to getting as many new treatments to rare disease patients as possible has taught me that there are so many aspects to doing so. These include long and expensive research and development phases, years to reach successful clinical trials, regulatory reviews for approval, and finally, having the patient be granted access by public or private payers with whatever support we need to provide to make sure this happens.

Hundreds of patient advocates and their families have come to Washington, D.C., for Rare Disease Week to spend time educating members of Congress and their staff that we all must play a part to support developing, approving and accessing rare disease treatments for all patients, regardless of the patient population of the disease.

For the rest of us, it is a time to give thanks: to the patients, their families, their caregivers, medical teams and communities that have fought for these diseases to be understood and treated; to the researchers and industry that work on discovering so many new ways of bringing to patients their first-ever treatment; to our federal public officials who understand and continue to support a combination of efforts and programs that have brought us to new points of success; to the FDA for its efforts to build an effective regulatory environment where patient voices are heard and companies continue to innovate with treatments and clinical trial designs; to those who have voluntarily uprooted their lives to make drug discovery and patient access to treatments their life’s work; and to the health care providers and insurers that, in the end, must deliver that work to people every day.

Let’s continue our work and our progress at every level like it is Rare Disease Day every day.


Dr. Emil Kakkis is the founder and CEO of Ultragenyx Pharma.

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