Own Your Disease

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  PXE Vision: By and For PXEers
  by Pat Manson

Own Your Disease

October 2007


It´s your PXE. So own it, take charge of it, accept responsibility for it, for managing it. If you thought your doctor would take care of it all, well, think again. That´s just not possible. Your doctor may mean well, but he´s just too busy.

In-office medical practice within the U.S. has changed so dramatically that many physicians, regardless of specialization, see more than 50 patients per day.

When I worked in the pharmaceutical industry, I learned that surveys showed that on average a doctor listens to a patient only 2 minutes before making a diagnosis and prescribing a drug or other treatment. And that was over 15 years ago; it has surely gotten worse since then with the ascendancy of managed care. Needless to say, that allows precious little time for explanation or give-and-take.

This means that, notwithstanding the myriad medical advances and incredible technological innovation—your medical care may very well be lacking.

So who fills in for this deficiency? You do . . . or it probably won´t happen at all. In this column entry, I will describe the steps you need to take to ensure that you get the best medical care.


Learn PXE.

First off, do your homework. You don´t need to become as knowledgeable as Sharon Terry or Dr. Bercovitch. But you do need to have a basic understanding of our disease. Otherwise, you´ll never comprehend what´s happening to your body. Furthermore, you´ll be unable to speak intelligently with your doctors (or your insurer or your boss) and will not effectively represent yourself. On the PXE Chat List, PXEers´ questions occasionally reveal that they don´t know such elementary terms as CNV or AMD or that they don´t understand what the macula or even legal blindness is. That simply makes no sense. You wouldn´t consider trying to have a serious conversation with an auto mechanic or home repairman if you didn´t have the basics down. You´d be afraid of embarrassing yourself or of showing how easily you could be cheated. The same applies with your PXE. So learn the lingo and how PXE works. (It´s all there on www.pxe.org, PXE International´s website.) If you don´t, you´ll never get your point across, and, truthfully, you may not understand your point anyway.

Assemble your entire medical team—now.

As I´ve written before, I advocate selecting your doctors sooner than later. Choose them, then get established as a patient with each one, even if you think you don´t need him yet. When was the last time you tried to get set up with a new doctor? It can be daunting. Your first choice may not be taking on new patients at all. Even if he´ll take you, you may not be able to get a “new patient appointment” for months. You surely don´t want to be looking for a retinologist, for example, when you first notice that your vision has begun to look wavy. That relationship should have been established years earlier.

And for those of you who´ve been diagnosed with PXE but have shown no symptoms, go ahead and assemble your team anyway. You´ll be glad you did if/when the other shoe drops and panic sets in.

Get the best.

If you were going to re-do your home´s heating/cooling system, say, converting from gas to electric, you wouldn´t just pick a contractor from your phone book. You´d seek recommendations from friends, family, etc. Why? Because you´d want expertise, derived from experience and skill, all confirmed by others. Yet when it comes to their personal medical needs, many people settle for the doctor located nearest them, the one they´ve always seen or the one listed by their insurer. For PXEers, this passive approach is just too casual, almost careless.

We have a very rare disease, one that is only recently beginning to be understood. Many a PXEer has had that uncomfortable experience of looking into his doctor´s face when PXE is first mentioned. You could tell that the doctor remembered PXE´s name from some med school class or a long-discarded textbook. But that was it; you knew more than the doctor. What kind of care could you expect in that situation? Uninformed, at best.

I believe in trying to even the odds. That´s why I believe in being treated by the best you can get, at a so-called “center of excellence” if possible. Your local retinologist is no doubt a competent professional. Mine is, too. But if time and insurance money allow, chasing down physicians who have more targeted experience is a smart additional step.

Here´s how it went for me 6 years ago. My local retinologist was willing to treat my PXE when she first saw me (I hadn´t done what I´m now preaching), but instead she suggested I see one of the retinologists at Johns Hopkins University Hospital´s Wilmer Eye institute in Baltimore, about a 3-hour drive from Richmond. I did just that, have been treated there ever since and have been very pleased. I later learned that nearly every year for decades the professional association of ophthalmologists—I don´t recall its name—votes Wilmer the best facility in the U.S. (It even has two retina departments!) So I felt I was in good hands. And yet still I eventually learned that my retinologist had quite limited exposure to PXE. She had only 5 PXE patients and hadn´t seen many PXE patients over the course of her career. No knock on her—PXEers are very rare.

So I decided to get a second opinion, one from a retinologist who´d seen more eyeballs like ours. I did some web research and suggested to my doctor that I visit the Vitreous-Retina-Macula Consultants of New York in NYC. (Some name!) My doctor supported my desire for a second opinion and concurred with my choice of doctors. It turned out that they regularly referred patients to one another.

My wife and I went to NYC and I saw the doctors in the Vitreous group. They know PXE; they´ve published on it. They even told me that they usually see at least one PXEer per week. They readily confirmed that the course of treatment I was on at the time was the correct one. I wasn´t surprised but certainly felt assured.

I write all this not to endorse Wilmer Eye Institute or the Vitreous-Retina-Macula Consultants but, more generally, to encourage PXEers to make the extra effort to get the best medical care possible. My hometown retinologist regularly treated AMDers and had performed hundreds of hot laser and PDTs on them. (Remember that this was 2001.) She knew how to do the same on me. But I didn´t want to be her first PXEer. Thankfully, she didn´t want that either and said so. I´ll always appreciate her candor. Many doctors aren´t that modest, secure or truthful. Some want to keep their patients to themselves. Others say they see no benefit in a PXEer being seen/treated by a doctor who has seen and treated other PXEers before.

PXE International can help you find the cutting edge retinologists near you. There are good retinologists in all of the major metropolitan teaching centers—LA, San Francisco, Seattle, St. Louis, Miami, Chicago, Philadelphia, NYC, Boston, Baltimore, etc. Chris Vocke maintains PXE International´s list of such physicians. Unless you´re confident that your retinologist is one of the best, please call her, make an appointment to get a second opinion and go.


Be proactive.

In addition to being proactive in selecting the best doctors for your medical team, you need to be proactive in the management of your PXE. Given the nature of our condition, our doctors depend on us to let them know what´s going on with our bodies. Don´t be reluctant to do just that. Almost nothing related to PXE improves on its own over time. Get seen soon by your doctor if you think something is changing.


Be assertive.

I have talked with a number of PXEers who´ve been talked out of doing something by their doctors—taking a test, scheduling appointments more often, seeing another doctor for a second opinion. Please stand your ground. I´m not counseling you to be a pain, but you have the right to insist on the best care. Once CNV has set up shop in an area of your macula, every day counts. Once it kills photoreceptor cells, they´re not coming back. This is for keeps.

One of my favorite anecdotes of PXEer moxie showed one of us being both proactive and assertive. In so doing, she took responsibility for her PXE and thus improved her care. JoAnn D., a NYC native transplanted a few years ago to Florida, has experienced several bleeds, but due in part to her persistence, she´s kept her vision almost at normal. She pays close attention to any changes in her vision, religiously checking her eyes with an Amsler Grid. On one such occasion, she detected a change and went to see her retinologist almost immediately. He examined her manually and told her he saw no bleeding, no change from her last visit. She insisted that she be given a fluorescein angiogram (the intravenous dye test given to many retinal patients) to confirm what he´d seen. JoAnn´s doctor thought the test unnecessary. She disagreed and said so. It got, uh, tense. Ultimately, she had the test. He found a small bleed and successfully treated it. He gained respect for her perceptiveness and for her, and their relationship, their partnership, grew. JoAnn reports that he is now much more receptive to her impression of what´s happening in her eyes.


* * *

As I noted earlier, we PXEers don´t need to become doctors to make us capable of assuming control of our own medical care. But we do have to talk the talk. And while we most assuredly need doctors, we cannot just turn ourselves over to them. We must assume a substantial share of the responsibility for our own medical destiny. It is our PXE, you know.

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