PXE: The Elephant in My Room
by Jessica Harper, Los Angeles, California
Harper J. PXE: The Elephant in My Room. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S14-5. PMID: 15243492
"In 1960, when I was eleven years old, my mother noticed an unusual rash on my neck and took me to a dermatologist, who told us I had a rare condition called pseudoxanthoma elasticum."
It was a disease so rarely seen that the doctor wanted to put me (and my ‘‘chicken skin´´) on display for medical students at nearby Northwestern University. (My mother declined on my behalf.)
In those days, at least in the Chicago suburbs, little was known about the disease that we now call PXE. All I was told was that it involved the calcification of the elastic tissues, and that I should rub cortisone cream on my neck and wrap it in plastic wrap each night. One especially helpful doctor told me I'd grow up to be like the rubber man in the freak show,whose skin stretched grotesquely. (My naughty brother subsequently called me "rubber neck".) But, in all honesty, I didn´t take all of this veryseriously; I was a pre-adolescent with other things on my mind.
As I got older, the rash on my neck spread, and it appeared at all my joints, where the skin is most elastic. It started to make me self-conscious; oneclassmate accused me of not washing my neck; people would do double takes when they noticed it. I decided to wear my hair long and avoid wearing necklaces. However, as I still thought that this disease was only aesthetically problematic, I wasn´t really bothered by it too much.
When my career as an actress kicked into gear, I did mostly theatre; the presence of a skin condition was irrelevant. But as I moved into films, I wasuneasy about concealing the rash; I requested special makeup and a high-collared wardrobe. In Pennies from Heaven, I had a beautiful Bob Mackie bathrobe that had to be re-designed at the neckline to accomodate a long close-up. And, as time went on, it was tricky getting insured to act in a film, but because most film doctors know little about PXE, I managed to slip by.
Luckily, nobody told me (as some PXE-ers have been told) that having children was inadvisable, so I married and had two wonderful girls. At that point, I chose to stay home more and act less, and started writing books and music for children (which is mostly what I do now.) The rash continued to spread; I started wearing a lot of scarves and turtlenecks, but was still (as far as I knew) otherwise unaffected by the disease.
Then, in the fall of 2001, I found theWeb site of an organization called PXE International, Inc., founded by Sharon and Patrick Terry, the parents of two children with PXE. They sent me their newsletter, which changedmy world: I looked at the Amsler grid provided within and immediately noticed serious distortion in my vision. I went to the Jules Stein Eye Institute at the University of California—Los Angeles and learned that I had a retinal bleed in my left eye that could be the beginning of the loss of my central vision. Ironically, I had played a blind woman in a play in New York some years before, and had spent time with several visually impaired people, getting toknow them and observing how they coped. But it had never occurred to me that the loss of my own sight would ever be more than an acting exercise; no physician had ever told me that vision loss is a very common occurrence in PXE patients. I was not only shocked, I was devastated.
I've received excellent care at the Jules Stein Institute, and I'm grateful for it. I´m in a clinical trial there now, testing a new drug which may halt andpossibly reverse macular degeneration. So far, the treatment has stabilized my vision. But I can't say I love having injections inmy eye every six weeks, nor that I look forward to facing what happens when the trial ends, the drug is still unapproved, and I run out of treatment options.