Image by Arek Socha from Pixabay

How Many Diseases Are There You Never Heard Of?

There are a LOT of them! But you don’t often need to worry about them.

Rich Sobel
Dec 21, 2019 · 4 min read

There are over a thousand rare diseases that most of us will never encounter or ever have to deal with or experience. They can range from dramatic, painful and agonizing short-term conditions that end in premature death to a chronic long-term disability with no cure in sight. For the person and their caregivers who are suffering from these conditions, life is often a constant battle.

Just recently I encountered one and it kind of took me by surprise.

I was talking with a good friend of mine and he was showing me how his hand was deformed and I said, “Oh, you’re getting arthritis, right?” and he said “No. It’s not arthritis.”

I said “It looks like arthritis.”

He said it’s “Dupuytren’s Disease.”

I wasn’t sure exactly what he said as I had never heard the disease mentioned before and he had never referred to it so I asked him to spell it. I knew I would never remember it so I asked him to send me a link to it so I could learn more about it.

And he did. Here’s the link.

Then he started telling me about how there were surgical treatments that might alleviate the condition and how he was hopeful that it might be something that he might be able to get at some point to “cure” his condition.

And that got me thinking.

Just how many diseases are there out there that most of us have probably never heard of? Probably a lot!

Time to do some research.

And I found a whole host of diseases I’d never heard of!

After looking at a bunch of them it became obvious why there were diseases most people have never heard of. A lot of them are rare and the most common cause is a genetic anomaly.

There are some caused by infectious pathogens but for the most part, genetic anomalies rule the roost. Unique alterations of a gene or genes that lead to the condition. Since most genetic alterations are random, these diseases are often quite uncommon. And that’s why you’ve never heard of them.

In fact, there’s a whole organization devoted to rare diseases. It’s called NORD which stands for National Organization for Rare Disorders. They have a rare disease database with over 1200 conditions with descriptions of each of them.

But for the people that contract them and have to live with them, they are often very debilitating and in extreme cases, may lead to a shortened life span.

Not a pretty picture.

It is only because of our increasing ability in modern times to easily sequence our human genome that we now know so many of the causes of them. Before that kind of genetic investigation was possible, it was highly unlikely that a cause could or would be found for these kinds of conditions. That meant people not only suffered from the condition but also from the uncertainty of knowing what might happen next. Was their disease the same as somebody else’s who had similar symptoms?

I know how hard this can be for people. The uncertainty of not knowing. At one research centre I worked for, when a child had an undiagnosed disease their parents often experienced what we called the “diagnostic odyssey”, named after Ulysses’ epic adventure. Test after test after test to try to determine what’s the cause. It disrupts their lives and has a dramatic effect on their quality of life.

And the relief that came when they found out what was causing it. Even when they couldn’t do anything about it. It was just the knowing. Ending the odyssey. No more tests.

So the next time someone tells you about a disease they or one of their friends have that you’ve never heard of, I know you’ll do what we all do. you’ll “google” it! Or look it up on NORD’s database. Or both.

Now that I know more about Dupuytren’s contractures, I have a better sense of what my friend is experiencing and I can better empathize.

Until next time,

Rich

Are you curious about the latest biology news and fascinating/ cool stories — for yourself or to share with your friends or kids? Then subscribe to my newsletter and grab my latest ebook about quirky body stuff here.

Rich Sobel

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Rich writes about fascinating creatures and biological issues that affect our everyday lives. Get his free ebook at www.biology4everyone.com.

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