"It’s Not so Rare to Have a Rare Disease"

Spittoon – It’s Not so Rare to Have a Rare Disease

When we think about diseases we often describe them as either common or rare. Common conditions — like heart disease and obesity — are complex in nature, meaning that they are influenced by both genetics and environment. Conversely, most rare diseases are strongly influenced by genetics and less so by environment. We hear a lot about common conditions because so many people have them and in contrast relatively little about rare diseases. But how rare is rare?

In the United States, a disease is defined as “rare” if it affects fewer than 200,000 individuals, or roughly one in 1500. Rare diseases are often poorly understood, with symptoms that can be difficult to diagnose, and can be life-threatening. Around 6,800 rare diseases have been identified and the large majority of them — up to 80% — are thought to have a genetic origin. Most rare diseases can’t be cured and many lack effective treatments because research on rare conditions is often hampered by a scarcity of study participants and poor funding.

If you add up all the rare diseases it turns out that about 30 million Americans suffer from a rare disease. That’s nearly 10% of the population — suddenly rare is not so rare! …

Well, they sell genetic tests, so they have toot their horn. But still: 10% have a "rare" disease. Wow.