Pseudoxanthoma Elasticum (PXE)

There is a heartfelt article by Sam Harper in today’s New York Times on PXE, but you’ll need an online subscription to the paper to access it. Here are some key excerpts:

“I found my wife, Anna, at her desk, working at her computer … My vision loss has deteriorated to the point where I could no longer see her face unless I was an inch or two from it. Her expression, from cheerful to loving to furious – the silent language of our 40 year partnership – were hidden behind fields of gray and distortion caused by an incurable genetic disorder. When I was 8, nearly 60 years ago, I learned I had pseudoxanthoma elasticum (PXE), a rare and hereditary disease that causes calcification of the skin, eyes and arteries. Worldwide there are about 150,000 of us PXEers, and many suffer varying degrees of PXE-related vision loss …”

The stippled, peau d’orange appearance of the fundi which is typical for PXE.

Neck of patient with PXE. Notice the graininess of skin matching the graininess of the retina above.

“When our nest emptiedin 2012, the burden of domestic management got lighter but remained a marital flash point. That was also the year PXE accelerated its attack on my vision. Despite montly injecdtions of a blood vessel growth inhibitor in both eyes, gray fields and distortion crept from my peripheral vision toward the central vision, the result of atrophy, or cell death, taking my vision one micron at a time …

… That said, disease does provide the gift of insight. In my shrinking life, PXE has shifted my perception of the domestic task, one micron at a time. Over the years, even tasks like vacuuming have become a sustaining mediation on agency and purpose, things disability tries to steal. In humbling myself to that work, I find the moment, and in finding the moment, I see my place int he universe and that brings me peace. These tasks have become as precious to me as what’s left of my vision …

… I shut my eyes, startled by the swell of emotion her question and touch had provoked. Sadness, joy and gratitude lit up the arcing, bumpy trajectory of our long partnership, bringing another insight into hard focus. In this community of two, the work we do for each other, with each other, is communion, a commitment to mutual understanding, unity and love. I’m pretty sure Anna knew that all along, but it took vision loss for me to see it.”