The Fight Against Rare Diseases Is a Race Against Time

President John F. Kennedy once said, “We must use time as a tool, not as a couch.”

As a mother of two children (Sarah and Jeffrey) who have been battling cystic fibrosis for more than two decades, I know firsthand the value of time as a tool. CF is a devastating disease in every sense — we’ve spent weeks in hospitals and have done maintenance therapy three hours every single day for the past twenty-five years. There is no vacation from cystic fibrosis. We’ve fought constant lung infections, complications from CF-related diabetes, and countless other health challenges CF has brought to our family.

Fortunately, the Food and Drug Administration has approved two breakthrough treatments for CF in the past five years for specific mutations affecting a little less than one-third of the 30,000 patients living in the United States. Prior to this, we didn’t have any medicines that treated the underlying cause of the disease. With each new approval, it brings hope to CF patients and family caregivers like me. We know that our odds in the race against time improve with each step forward, through new innovations that build, one upon the next.

When it comes to rare diseases and those with serious health conditions, we’re hardly unique. There are no treatments today for ALS. While we’ve made progress against Alzheimer’s, we’re arguably decades from a breakthrough treatment. For people with certain types of cancer, a diagnosis still equates to an early death sentence.

Then there’s HIV/AIDS. In the 1980s, many feared that AIDS might bankrupt our health care system. For more than a decade, there was no effective treatment. However, patient advocates joined with industry and the FDA to focus on incremental improvement: namely, small breakthroughs that amounted to longer lifespans and a sense that one day there might be a vaccine or cure.

We also must acknowledge the reality of failures that occur in clinical trials as our family was involved in one. Every new trial brings hope for those who can’t be treated with an approved medication because of their specific genetic mutation — and when a trial fails, that hope is gone — temporarily. But we will never give up hope for the next treatment, and that’s the importance of pushing forward quickly with those innovations with strong science, to create the foundation for future therapies.

Consider the following: Since the passage of the Orphan Drug Act in 1983, the FDA has approved more than 500 medicines for rare diseases. However, only 5 percent of these conditions have an approved treatment today.

How do we ensure rare diseases like cystic fibrosis remain front and center?

First, we must rely on the best data and science to guide our efforts. It’s essential that the FDA has sufficient resources to get treatments to patients faster, but we cannot let perfect be the enemy of the good, especially when lives are at stake. There are extreme viewpoints on the issue — one side is advocating for clear shortcuts or changes to the review process; the other is calling for more FDA oversight. I come down squarely in the middle. Patients need medicines and we should be addressing serious diseases by reviewing them as quickly as possible.

Second, we must continue to urge regulators to welcome the viewpoint of patients in the decision-making process. Some might interpret this as favoring patient viewpoints over science, but just the opposite is true: we are living examples of innovative science. Whether it be with the FDA, drug companies, doctors or other representatives of our health care system, it’s essential that the patient experience be a critical part of how drugs are reviewed and approved. Fortunately, this is a major part of the Prescription Drug User Fee Act, set to be reauthorized by Congress this year.

Finally, we must prepare ourselves for a tough road ahead. Yes, science is showing its full potential on a number of fronts, but in many ways our work is just beginning. For me, it’s a tough pill to swallow knowing that we’re still years or decades away from a cure for my children’s disease. But the next step matters, as does the step after that. We need to be taking them, especially when it comes to the FDA considering new CF treatments in which there’s compelling data available to support efficacy. For families like ours, it is literally a race against time. The agency should approve them.

By all accounts, time is the ultimate tool. For millions of people with rare diseases, we’re making good use of it. However, we can’t give up now. There are too many lives to save.


Lisa Yourman is coalition chair of Action CF, an advocacy organization that works to advance the public’s awareness of cystic fibrosis.

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