Imagine waking up one day with intense pain in your hand. It doesn’t go away in a couple of days, so you make a stop at the doctor’s office. They give you a diagnosis and some medicine. It doesn’t work, and the disease your doctor says you have doesn’t describe what you’re feeling. Meanwhile, the pain gets worse.
You go to another doctor, and another. Each tells you to do something different, gives you some new chemical to pump into your body. Each time, you believe them when they diagnose you, thinking this must be the answer. You get progressively worse, losing faith not only in the medical system, but also in yourself.
This is the fate of many people in the world who are affected by rare diseases. A disease is defined as “rare” in the U.S. when it affects less than 200,000 people at a given time.
Despite the fact that they are, by definition, rare, such diseases are a lot more prevalent than the label implies. In truth, there are more than 1,200 rare diseases and disorders, according to the National Organization for Rare Disorders. This translates to 350 million people worldwide. That’s enough people to be the third most populous country in the world. Because there are so many diseases, doctors don’t know about all of them. Indeed, people who contract a rare disease consult an average of 7.3 physicians before getting a correct diagnosis, according to the Journal of Rare Disorders. Despite belonging to a huge group of people who suffer from these afflictions, because the individual diseases are so rare, the victims of rare diseases often feel isolated.
Four years ago, I moved from Savannah, Georgia, to California and started middle school. My brother, Phoenix, was entering the eighth grade. After a couple of months, he began complaining about pain in his right foot. Very minor, nothing a trip to the podiatrist wouldn’t fix.
The podiatrist quickly pinpointed the problem: an extra bone in his foot. A simple operation was recommended. Wanting to be sure, we got a second opinion from another podiatrist. Her advice: don’t operate. And yet another podiatrist: operate. Eventually, after much discussion, we decided to have the surgery. So they operated, and everything seemed fine. But months after the wound healed and the pain was supposed to have gone away, Phoenix still complained about his foot hurting.
“Man up,” people said. “Stop complaining.” Some accused him of exaggerating, or making it up for attention. Pain is so easily overlooked. Because it is typically not visible, people often find it difficult to understand. The fact that my brother is male exacerbated the situation, because he was expected to be tough.
Eventually, we contacted a pain specialist at Stanford University’s children’s hospital. He diagnosed Phoenix with Complex Regional Pain Syndrome, a rare malfunction of the nervous system that affects less than 5 percent of the population. Also known as CRPS, it results in allodynia, where a seemingly harmless movement – such as putting on a sock – is translated to a torturous level of pain. People compare it to skinning the leg or setting it on fire. The McGill Pain Scale rates CRPS as the most painful disease, scoring even higher than unmedicated childbirth and amputation of a digit. The only “cure”? Physical and occupational therapy, or continuously moving the affected body part, to retrain the nerves and brain to recognize harmless functions as such.
How is such a terrible disease unknown to so many? Worse, how is such a terrible disease unknown to so many doctors? CBS News states that 1 in 20 adults, or 12 million adults a year, are misdiagnosed. About half of these errors have the potential to be harmful. We live in a society where people take their problems to doctors with the belief that they are some kind of magical, know-all wizards. If a doctor says you have a sickness, then by all means you must have that. No questions asked. And while much of the time doctors are correct, they are still human. They are physically unable to know exactly what is going on inside you. A doctor shouldn’t be the one telling you what you are feeling.
Rare diseases are largely unknown to the public. They’re often seen as unimportant, as things that exist but aren’t significant enough to pay attention to. Bob Longhorn, who lives with a rare disease, points out, “they are only ‘rare’ until they happen to you or a loved one.” And while I’m not advocating that every person immediately make themselves experts on over a thousand diseases, I’m hoping that the public’s view on rare disorders will change. The next time someone shares their pain with you, don’t brush it off.
There are many rare diseases that deserve our empathy. I’m hoping the medical community recognizes the prevalence of these illnesses, and the importance of educating themselves and the public. If you receive a diagnosis that just doesn’t seem right, seek a second opinion. Rare should no longer be an excuse.
This piece has been published in Teen Ink’s monthly print magazine.