Self education

After diagnosis in 2000, I was faced with the task of learning about my disease. There were some forms of literature available, but very little in the way of information from my doctors because they had simply never witnessed a case of Fabry up close and personal. During an office visit to my neurologist, he promptly excused himself to check his computer. He, like many of my other docs, had only covered Fabry briefly during med school. It was so rare that there simply wasn't the need for everyday knowledge. That, however, is changing.

Truth be told, Fabry is difficult to diagnose because the signs are mostly hidden. As I was going through testing, I heard the words "lupus" and "MS" - and wondered which one it was. One of the most prominent immunologists in the country totally whiffed on my diagnosis several times. He never got it right.

There are many symptoms, including anhydrosis, neuropathy, fatigue, issues with depression, proteinuria, gastrointestinal issues, and so on. Many can be attributed to other factors. Fatigue and depression have about a million source causes; the sensation of burning and tingling in outlying extremities can be related to other nerve issues. Athletes and those who lift weights experience protein loss through the kidneys. Having gastro problems can be attributed to lactose intolerance. Only one other root cause keeps someone from perspiring, and that involves not having sweat glands. These, of course, are not the only symptoms, nor do they all present themselves in each Fabry sufferer. The best way to learn about the disease, unfortunately, is to live the disease. Medical professionals and laymen won't ever know what a Fabry patient is going through - but that can be said of any disease. My point is, it's really on us to recognize the symptoms and become familiar with the disease from a medical standpoint. In fact, I could recite what Fabry is in my sleep.

By knowing what the disease is, you can better control any potential surprises. In turn, that helps you to manage your own care. The best support doesn't come from an online group or a pamphlet, but from yourself. Do the work, accept reality, and live the best way you know how.