Rare Diseases Are More Common Than You Think

Feb. 29 is a rare day, dedicated to an important cause called Rare Disease Day. It's okay if you haven't heard of it -- the day is dedicated to some of the world's least known diseases, after all.

Although these conditions seem few and far between, they're quite common when you step back and observe them as a whole. In the United States alone, 30 million people are living with a rare disease ("rare" defined as affecting 200,000 Americans or fewer at any given time). That's one in 10 Americans.

That can't be true, you must be thinking. Where are all these people? Sadly, about 50 percent of those afflicted by rare diseases are children. According to advocacy organization Global Genes, rare diseases are responsible for a startling 35 percent of deaths in the first year of life, and 30 percent of children with a rare disease will not live to see their fifth birthday.

So while the issue isn't always visible in our day-to-day lives, rare diseases impact many children and families here in the U.S. and beyond. Global Genes estimates that 350 million people worldwide suffer from a rare disease. If all those people lived in the same place, it would be the world's third-largest country -- a staggering thought.

As a genetic counselor that has worked with many families who learned they were at risk of passing down a rare genetic disease, this issue holds a big piece of my heart. If you'd like to contribute to the cause, here are three things you can do.

Get DNA Testing

Even for more common genetic diseases like cystic fibrosis, 80 percent of affected children have no prior family history of the disease. That's why it's important even for healthy couples to know that they could be at risk of passing down a rare disease.

Several companies are now offering more comprehensive and affordable ways for couples to screen for hundreds of rare diseases -- something that was barely possible only a decade ago.

Advocate for Change

Despite the evidence in support of expanded carrier screening, most family planning guidelines only recommend routine screening for Trisomy 21 (Down syndrome) and a handful of inherited conditions. Yet, researchers from my company found that the rare diseases we screen for are collectively more common than Trisomy 21.

Now that we have the means, medical organizations should be advocating for more thorough screenings. Couples planning a family have the right to know if they might pass on a rare disease to their children so they can make choices that are right for their family, such as finding a specialist, pursuing prenatal diagnosis or visiting with a fertility specialist. And in some cases, early identification can help avoid a medical odyssey and improve quality of life.

If you're looking for ways to get involved in rare disease advocacy, checking out this resource is a great start. The National Organization for Rare Disorders, the official sponsor of Rare Disease Day in the U.S., is also doing excellent work educating the healthcare industry on changes and innovations that need to happen.

Spread the Word

According to the EveryLife Foundation, 95 percent of rare diseases do not have a single approved drug treatment. Fortunately, as advances in genomics and clinical research continue, we will have more and more tools available to combat these conditions.

You may suffer from a rare disease, or know someone who has. Just as plausibly, this is the first time in your life you're hearing about this issue. Whatever the case, I'm thankful you took a moment to learn more about it. If you want to help spread the word, use the hashtag #RareDiseaseDay in a post this week.

It will mean something to many people -- more than you might think!