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  PXE Vision: By and For PXEers
  by Pat Manson


September 2005


“Let me assert my firm belief that the only thing we have to fear is fear itself—nameless, unreasoning, unjustified terror
which paralyzes needed efforts to convert retreat into advance.”

--Franklin D. Roosevelt, 31st U.S. President, in his first inaugural address on March 4, 1933.

Do you remember the exact moment you learned that you – or a loved one – had PXE? I suspect you do all too well. Here´s how my PXE initiation went. Unfortunately, this was typical for many of us. Like most male PXEers, at age 23, I had noticed no skin lesions, so I was unprepared for the news. During a routine eye exam, my ophthalmologist spotted my angioid streaks and surprised me by saying that I might have something called “pseudoxanthoma elasticum.” He didn´t seem troubled over that possibility, so I was unconcerned by his referral of me to a retinologist at a medical school hospital about an hour away. A week later, the retinologist confirmed the streaks´ presence. Then, after manipulating the skin on my neck, he became very pleased with himself and pronounced that I almost certainly did have PXE. I was whisked in to see the head of the Dermatology Department. That doctor was similarly excited with his new specimen and confirmed the retinologist´s suspicions. Suddenly, the room filled with medical students, who pulled at my neck, underarms and elbows, examined my still-dilated eyes, and pulled at my lower lip. Not one of them bothered to speak to me. I was mortified. (Looking back on it, I´m grateful they didn´t lower my pants to examine my groin.) The dermatologist told me that he had conferred with the retinologist and that it was unequivocal: I had PXE. So what do I do, I asked. Nothing, he replied. There´s nothing you can do, he stated with finality and a distinct lack of interest. I was dismissed with that diagnosis but without any understanding of what had been diagnosed.

I later called my ophthalmologist and asked if he could at least tell me what PXE was. He invited me to his house to look in his private library. I sat in that impressive, walnut-paneled room, in the most expensive neighborhood in town, a kid practically, trying to read the articles he´d laid out for me. The medical literature was almost impenetrable. Intimidated by the surroundings and now scared, I gathered the nerve to ask him a few questions. While almost every answer was “We don´t know,” one thing was clear: I might be in for a lot of problems in the future.

Now I was terrified.


Shock and Awe

Look again at the oft-quoted lines above. Here, FDR was beginning his long re-shaping of the American psyche, calming an adolescent nation panicked by its first major defeat, the onset of the Great Depression. Settle down, he advised. Take a few deep breaths. Think clearly. Let´s look at the problem analytically, coldly, rationally. And he preached that lesson for the rest of his historic presidency. In doing so, he talked a fearful nation back from the ledge, slowly rebuilding its confidence in order that it could squarely face the new, even greater challenges that lay ahead.

In our individual, non-presidential way, we must follow the same course. When we learned we had PXE, or when the first symptoms appeared, we, too, were shocked, to say the least. For many of us, our fear was exacerbated by the utter lack of knowledge possessed by the first doctors we sought out. For those facing such a predicament, it is instinctive to shut down intellectually, to allow our emotions to run at full throttle. After all, we´ve heard that shock is the first step in the grieving process (shock/denial, anger, bargaining, depression and acceptance). It can even be tempting to allow ourselves to remain in this stage, a deer caught in the headlights or in a state of perpetual hysteria. But we cannot do that; we must advance to the next stages. Otherwise, we would be giving in to the fear, giving up on ourselves and those who depend on us. And PXE just doesn´t justify all that.


Not That Bad

A genetic disease, particularly a “rare” disease (one affecting fewer than 200,000 people in the U. S.), must be extremely serious, devastating even, right? No, not necessarily. Let´s summarize what we really do know about our disease at this time. We now know that PXE is a rare genetic disorder, not the connective tissue disease it was formerly believed to be and which many PXEers were originally taught. For reasons not yet understood, it causes, we also know, the body to process certain minerals—calcium, phosphorus, iron, magnesium, etc.—incorrectly, so these minerals deposit in certain organs (skin, eyes and circulatory system). Over time, this has a detrimental effect on these organs, preventing certain tissues in them from stretching and returning to form properly. Some tissues become lax, while others are inflexible, even appearing to crack at times.

So then just how bad is PXE? Not that bad actually. It´s not cancer. It´s not muscular dystrophy. It´s not even diabetes or rheumatoid arthritis. Yes, it often causes serious vision loss. It can also cause skin lesions that can be disfiguring and embarrassing as well as intermittent claudication (leg cramps resulting from poor circulation). In very rare instances it can contribute to GI bleeding and coronary heart disease. But each of these conditions exists in far greater numbers in the general population, and each can be treated in the same manner as for non-PXEers.

Don´t get me wrong. I don´t write for Hallmark, and I´m no pollyanna. Losing my central vision, my career, my independence has been no picnic. In fact, it´s been terrible at times. But it´s just not that bad. It could be so much worse

A friend of mine, a woman, was Vice President of Marketing for a Midwest consumer products company, a true testament to her abilities in her male-dominated company. She had also been battling multiple sclerosis—MS—for years. She balanced a staggering regimen of drugs against her ambition and her love for her job, as well as the hours and energy both required. Unbeknownst to me, while I was trying to keep going in my own position despite my vision loss, she was losing her fight. At the end, a simple eyebrow waxing or plucking would send her into anaphylactic shock, unable to speak for days. Soon thereafter, she stepped down from her position and took long-term disability (LTD). Considering how she had already suffered and the life-threatening nature of MS, I almost felt guilty when I called her a year later to say I was following her into LTD.

In fact, I´d go so far as to say that PXEers have a few things for which they should be grateful. For example, most of us are diagnosed with PXE long before we experience serious symptoms, thus giving us extra time to adjust to, maybe even plan for, what we may face in the future. Furthermore, serious symptoms don´t typically manifest themselves until PXEers are in their 40´s. Also, the worst symptom for most PXEers—vision loss—is limited to just central vision loss. With peripheral vision alone (assuming no residual central vision), we can still have a full life, able to get around the house and most of the outside world on our own. We can even read with low vision aids. Many of these helpful devices are quite new, having been developed for the much more numerous AMD baby boomers. We even managed to time our vision loss well, for earlier PXEers had to cope without these products. Most of our treatments are relatively new, too—hot laser, PDT, Macugen, etc. Until just a few years ago, PXE wasn´t even understood to be a genetic disorder, and yet now PXE International is zeroing in on even newer treatments. But, most important of all, PXEers are lucky that they are only PXEers. So cuss, cry and complain “Why me?” Then begin gathering your thoughts for your next step. Next time: Getting Going.

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