When was the last time you felt competitive?
My last time surprised me, because it was at my book club. It wasn’t about that month’s book selection – rather, it was when I told my book-loving girlfriends about the book I’m writing, on the rare disease I have.
“What’s the name of your disease?” Rebecca asked.
“Wilson disease. You’ve probably never heard of it because it’s really rare. It’s a genetic disease where the liver can’t process dietary copper, so the copper builds up in the body, mostly in the liver and brain.”
“How did doctors find it?” Rebecca wanted to know.
“During my senior year in college I woke up one morning and the whites of my eyes and my skin had turned bright yellow. I went to the emergency room and was checked into the hospital for almost a week while doctors did tests. At first, they got my diagnosis wrong, but about a month later I was called in for an eye exam to look for copper-colored rings in my eyes, which are only seen in Wilson disease, and I had them. So that’s how they figured it out.”
Martha said her chiropractor has a rare disease too, but he was misdiagnosed for years.
“I was astonished,” she said, “because he’s in his mid-forties and VERY fit. But he had crazy high blood pressure that couldn’t be controlled. He was constantly looking for solutions.”
Apparently her chiropractor’s experience as a health professional helped guide his search.
“My chiropractor essentially diagnosed himself! He found something on the internet about tumors on the adrenal glands and how they can cause high blood pressure, so he went to an endocrinologist to check for a tumor. Sure enough they found one, and removed it, and he now has normal blood pressure.”
“I have that disease!” Kim proclaimed.
No way! How often does that kind of coincidence come up in a conversation? Knowing two people with the SAME rare disease?
The name of Kim and the chiropractor’s tumor is pheochromocytoma . The tumor usually forms around the
adrenal gland (which is on our kidneys) and release epinephrine, which causes the high blood pressure.
And Kim’s diagnosis came in college too. Like me, she was 21.
“I was studying in France and a doctor there put the diagnosis together from my sky-high blood pressure.” He examined her abdomen and found a tumor that had grown to the size of an orange, which made her disease easy to find.
Martha asked me how many people have Wilson disease.
“When I was diagnosed in college, doctors told me one in every 200,000 people have it. Now the estimate is one in 30,000 have it.” That means roughly 10,000 people in the United States have Wilson disease.
And here comes the competition – Rebecca asked Kim how many people have her rare disease. Kim said that, in the U.S., it’s about one thousand people diagnosed per year. There’s an even smaller group within her rare disease, where the tumor turns out to be malignant and cancer spreads to other parts of the body.
“That’s what I have,” said Kim.
So I think she won the rarest rare disease competition that night! Looking at Kim – who is the picture of health, a wife and a mom with a full-time career – you’d never know she lives with the rare and serious form of a rare disease.
It turns out that even though Kim, Martha’s chiropractor and I each live with a rare disease, we’re not rare. A disease is considered rare if less than 200,000 people have it in the US. But there are about 7,000 known rare diseases, with more being discovered.
Having a rare disease can feel lonely, until you realize you’re among the 30 million people, or 1 in 10, living with one. So, while our diseases are rare, living with a rare disease is an amazingly common experience.
