Pat Manson: A Note to New PXEers

Things are looking up.
In fact, they’ve never looked so good for PXEers.

About a year ago, I was reading postings on PXE International’s ChatList. A newly diagnosed PXEer had written in to say that she was in real trouble: acute fear, anxiety, panic attacks, chest pains. She also seemed to be rushing to line up as many tests as possible. How could any PXEer lead a normal life, knowing that the endpoint of PXE’s evolution could be potentially catastrophic? Several veteran PXEers quickly responded, recommending antidepressants for the near term or at least until she was able to calm down, followed by a serious rethinking of her PXE. They counseled her to look at her diagnosis not as a life-shattering event but to regard her PXE as something that certainly needed to be addressed promptly and thoroughly but that thereafter could be managed. They knew, they assured her; they’d been new PXEers once, too. They had their own painful memories. I was heartened by the simple, helpful advice offered by these experienced PXEers: we need to keep PXE in the proper perspective. Of the numerous reassuring posts, my favorite came from Dina G.:

"One thing I would advocate, we must not identify ourselves with a disease. When you are dx [diagnosed] at a young age that is a risk."

Pretty profound, I thought. And that profundity (how often do you get to use that word?) got me worked up a little, remembering my own journey and those of other PXEers I’ve gotten to know. As I have written before in this column, we all need to beat PXE, not be PXE. And by "beat," I don’t mean defeating the disease. Others are working on that (with the support, I hope, of every PXEer reading this). No, I just mean handling it well, not allowing it to ruin your life. If you’re managing your symptoms and consigning your PXE to the proportionately sized medium-to-small emotional box it merits, then you’re beating PXE.

To be fair, though, PXE does seem tailor-made for us to obsess over, to identify with. Most of us are diagnosed when young, providing most with a jarring, first brush with mortality. And that diagnosis is typically given many years before our symptoms become serious--if ever. So we spend years waiting for the other shoe to drop. In addition, PXE is super rare, so it's still kind of mysterious. Even our doctors seldom know much about it. Despite the explosion of discoveries made in the last decade or two, much about PXE is still unknown. It affects numerous parts of our bodies, so it's tempting to assign more blame to PXE for our various aches and ailments than it deserves. And, finally, there are numerous varieties of the disease and thus differing combinations of symptoms. Understandably, these can conspire to make us think about it more than we should, more than is healthy. Some of us seem to hold our breath for years, decades even, waiting for that other shoe to drop.

The truth is, newer PXEers, that even if the other shoe does drop one day, it won't drop nearly as hard or sound as loud as it did for earlier generations of PXEers. For years, it was believed that at any given time about one-third of the PXEer population had already sustained enough vision loss to be deemed legally blind. (20/200 with correction in the better eye) This is simply no longer true.

The anti-VEGF drugs Lucentis and Avastin, together with the treatments that will follow them, should provide substantial hope to all new PXEers that they may experience little or no vision loss. These drugs have been very effective at stopping or greatly slowing the progress of CNV (even reversing it in numerous instances), thus preserving many PXEers’ all-important central vision. And the good news doesn’t stop with less vision loss. Treatments for cardiovascular conditions, GI bleeding and skin abnormalities, whatever the cause, improve every year. In particular, with increased insurance coverage for PXE-caused skin problems has come greater dermatological experience, and many PXEers report that they’re satisfied with the results of surgery on their necks, chins, underarms and other areas. And then, finally, of course, there's the possibility of a future body-wide treatment, a means to turn PXE off, the macro solution on which PXE International is working—among its many other efforts.

So, newbies, please respect your elders by politely listening to our horror stories: how our doctors told us that our skin lesions were unwashed skin, that no one knew anything about PXE or, worse, that PXE was fatal or would make us totally blind, that there was nothing that could be done for our disease, and then, later, how we had to watch helplessly, hopelessly, as our vision blurred and darkened. Interesting anecdotes, for sure, but mere artifact, old news. All of us, the newly diagnosed and the seasoned vets, need to recall just how far PXEers have come in a relatively short period. It’s a new ballgame for all of us, but especially for you youngsters. Things are presently so much better that there’s no longer any rational reason for you to live in great fear. While having PXE still stinks, it needn't be a central focus in the lives of new PXEers.

If not a central focus, what then? OK, here’s what you rookie PXEers should do. Learn PXE: it’s all on the website. Line up your doctors and see them regularly, not just when you think they’re needed. Check your vision often by looking at your Amsler Grid. Tighten up your finances and spend some time on a what-if plan. And then just live your lives. Move on to the good stuff. And just keep going, with perhaps a little envy from us veterans but with our best wishes. We’ll be rooting for you.

If this information was helpful to you, please consider making a quick donation today because every penny counts. 100% of donations go to support and research.