Why Care About Rare?

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Francesco Lucarelli
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Published on Feb 29, 2024

As February ends, we approach Rare Disease Day, this year on February 29—that extra significant, rare day that only comes on leap years. But why should we care about rare diseases? They're rare, after all, and since so few people are affected, do these diseases really matter? Well, the answer is a resounding yes. Here are five reasons why each of us should be very interested in learning and doing more for patients with rare diseases.

Genetic Insights: Around 80% of rare diseases result from genetic disorders, whether they are inherited or not. As we continue to learn more about the complexities of the human genome, we gain a greater understanding of rare diseases, which will further clarify the cellular and molecular pathways that will benefit not just those conditions, but many others. The scientific discovery process often finds breakthroughs when one door closes, only to open another. Thus, the more we know about these conditions, the better off we will all be in the future.

Delayed Diagnosis: Many patients with rare diseases have had to suffer through years and sometimes decades without a confirmatory diagnosis. This leads to great mental anguish for patients and their families, and many patients have stated they felt tremendous relief upon getting a diagnosis, even when it was for a condition with no treatment or cure. The unknown is far scarier. Additionally, these patients must endure the trials and tribulations of multiple referrals and procedures, which is both difficult on them and a burden for the healthcare system. Just think how much more productive an efficient diagnostic journey would be: less time, less stress, less anxiety, and less wasted healthcare costs. Everyone wins in that scenario.

Research and Awareness: Some of the most significant advances in rare diseases have been driven by ultra-motivated family members who refused to accept that “there’s nothing we can do.” These individuals should be applauded for their tireless work, but should that really be the model? If more of us were aware of some of these conditions, understood the debilitating effects that they impose upon patients, and collectively raised our voices (and contributions), we would be able to get the attention of policymakers who can work to make real changes in the clinical trials for these conditions. I think of those who have fought for years, stood up to Congress, and petitioned the FDA, and I am left wondering what changes we could make if each of them had hundreds or thousands more behind them!

Bettering Society: Because of the limited understanding and awareness of many rare diseases, patients are often left feeling isolated or discriminated against. The adage that we fear what we don’t understand truly applies to rare diseases. We would be better as a society if we knew more and were able to comfort or support these patients rather than look away and feel pity. Many patients have said that they don’t feel like victims and don’t want us to feel bad for them; rather, they just want us to accept them and help them live their lives to the fullest extent. That is a desire that we all share and should all work toward attaining.

Rarely Seen Until You Do: The numbers don’t lie. Estimates from the National Institutes of Health state that 1 in 10 Americans could have some form of a rare disorder. That means that each and every one of us may know someone or will likely know someone impacted by a rare disease. And of the roughly 7000 rare diseases, only about 5% have FDA-approved therapies. When you stop and think about that for a second, it’s likely that we’ll all be touched by a rare disease and face some element of its devastating impact—so yeah, it’s okay to be selfish AND care about rare diseases.

As this year’s Rare Disease Day approaches, take some time—an hour, maybe two—and do some reading and researching about rare diseases. Think about your friends and family, and if you are directly impacted today, share your story to help raise awareness for others. If you’re fortunate enough not to be impacted today, see what you can do to help support the cause—there are a number of amazing advocacy groups that can use your support and commitment. And remember that over 30 million Americans need our help, in whatever way, to ensure they are not marginalized or forgotten.