Rare Disease Day, Ehlers-Danlos Syndrome

The zebra is the mascot for EDS because medical professionals are often taught,
 when you hear hoofbeats, think horse not zebra. But people with EDS are zebras.
Image courtesy of Wikimedia commons

February 29 was Rare Disease Day. I’m a few days late, but here’s my rare disease story: Ehlers-Danlos Syndrome (incidence 1/10,000 to 1/20,000 for my subtype).

After a lifetime of knowing something wasn’t quite right with my body, a geneticist recently diagnosed me with Ehlers-Danlos Syndrome, a genetic connective tissue disease, which affects all the body’s organs and tissues causing deterioration and degeneration. The subtype I have is characterized by pain and exhaustion. (Honestly, I don’t remember a time I wasn’t fighting pain or exhaustion—I thought it was normal. I told myself, “Suck it up, Buttercup.”) Without going into the nitty-gritty, the geneticist explained my condition this way: Imagine your body is a house built with nails that are soft. It’s not too bad at first. But over time, the nails fail. The shingles and siding blow off. The wallboard falls down, and the floors come apart. And, the 2 X 4s holding the structure together start to separate from each other.  (Not the most encouraging metaphor…)

There is no treatment for EDS. The only thing doctors can do is treat the symptoms. Because my house is in its fifth decade, a lot of things are falling apart (spine, joints, eyes, digestive system, circulatory system, etc.). But I am thankful. After 53 years, it’s nice to know why.

The Clogged Drains Were A Sign

A couple of months ago, I was unclogging our shower and sink drains a little too often--pulling out a lot of hair. I knew it was a sign of something bad. I thought we had an issue with our pipes. I was wrong.

One evening while we were brushing our teeth my husband, who is a lot taller than I am, said, “Uh, you’ve got a bald spot on your head.”

I spat out my toothpaste and said, “Yeah, right.”

He said, “No really.”

So I got out a mirror, a couple of mirrors since the area was on the back of my head near the crown. My husband was right. There was an oval spot on my head that was completely denuded of hair.

Like any 21^st century woman, I turned to Google. And what I found wasn’t great. So I made an appointment with the doctor. He took one look and confirmed my suspicions. I had an auto-immune disease called “alopecia areata.” In alopecia areata*, the immune system attacks the hair follicles. (Isn’t that ridiculous?) The good news is that it doesn’t affect my general health. (Though it is associated with other auto-immune diseases and I had a flurry of blood tests run. And when one came back "bad," I had a couple very meticulous blood draws—basically, they kept drawing blood until the results came back normal.)

Now I’m being treated with lots of steroid injections into my scalp (not nearly as painful as I’d been led to believe) and topical steroids. And though it leaves my scalp tender and I have a few sores, some hair is growing back, though the color is weird. However, other hair is falling out. And I have hair missing on other parts of my body. The prognosis is unclear. I could regrow some hair and lose other hair. It could go into remission. Or, though this is very unlikely, I could lose all the hair on my head (alopecia areata totalis) or all the hair on my body (alopecia areata universalis).

In the meantime, I’m doing the female version of the “comb over.” And I’m investigating scalp makeup. (Who knew such things existed?)

*Because Alopecia areata is an auto-immune disease, it is NOT contagious. If you’re interested in knowing more about it, here’s the website of the National Alopecia Areata Foundation.