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.
Monday, January 17, 2011
Friday, January 14, 2011
Diagnosis proved my suspicion
Ever since I was a young boy, I knew something wasn't right. When it came to activities, I just couldn't do what the other kids did. The heat of summer bothered me; I tired easily, and I had trouble keeping up. I was always very thin and somewhat shorter than the others. As you can guess, I came under fire at times by my peers. It was a pretty frustrating and lonely experience. Thank God I had an active imagination.
It's hard to believe it's only been 10 years since a kidney biopsy affirmed my suspicions: I had Fabry disease. My very first reaction wasn't fear or anger, but more of a "That explains everything" moment. Of course, it didn't help that my doctor explained it as "fascinating" - after I came out of my life rewind, I almost asked him to repeat what he said. I'm glad I didn't, because I probably would have punched him in the face. But I digress.
In society, good things can come from bad situations. You hear or read about them all the time; Countless stories of courageous battles with cancer and other illness. Those people are true heroes. They are admired and cheered on, blessed and thanked endlessly for the work they do to help others. But what you don't hear are the instances where someone is stricken with illness and withdraws from family, friends, and society. My situation wasn't that drastic, but it did eventually cause me to question why. Why me? I have to admit, I was always a bit selfish. I think that was built in as a defense mechanism over time because I had taken shit from so many people in my young life. I had taken enough. That, in turn, made me bitter. I sought out answers to my questions, so I went to church to meet with a pastor and signed up for an adult religion course. When the course was over, I asked him why. Why was I sick? For what purpose? And the thing is, I knew he didn't have an answer before I finished asking the question. I was looking for validity, a free pass for the way I was feeling. There is no free pass.
Of course I wasn't the only one, and I knew that. It happens every day to the most wonderful people on the planet. I was by no means "wonderful." I had an enormous chip on my shoulder - and I did exactly what my mother told me not to do: Throw caution to the wind. That's when I experienced problems at home. I won't go into details out of respect for my family, but I felt there was more to life than going through the motions. Now that I look back at it, I took the coward's way out. I felt I deserved more, but who the hell was I to deserve more? It's been four years now, and I have to say that turned out to be the best move for all of us.
So, little by little, I try to carry on. Family and friends have definitely helped me to live for me instead of living for illness. I still struggle at times when I see "normal" men jogging down the street, walking arm-in-arm with a beautiful woman. Sure, I sometimes say "Lucky bastard" aloud when I drive by. It's all a process - growing and learning about myself, about tolerance and acceptance of what is. I'll get there eventually.
It's hard to believe it's only been 10 years since a kidney biopsy affirmed my suspicions: I had Fabry disease. My very first reaction wasn't fear or anger, but more of a "That explains everything" moment. Of course, it didn't help that my doctor explained it as "fascinating" - after I came out of my life rewind, I almost asked him to repeat what he said. I'm glad I didn't, because I probably would have punched him in the face. But I digress.
In society, good things can come from bad situations. You hear or read about them all the time; Countless stories of courageous battles with cancer and other illness. Those people are true heroes. They are admired and cheered on, blessed and thanked endlessly for the work they do to help others. But what you don't hear are the instances where someone is stricken with illness and withdraws from family, friends, and society. My situation wasn't that drastic, but it did eventually cause me to question why. Why me? I have to admit, I was always a bit selfish. I think that was built in as a defense mechanism over time because I had taken shit from so many people in my young life. I had taken enough. That, in turn, made me bitter. I sought out answers to my questions, so I went to church to meet with a pastor and signed up for an adult religion course. When the course was over, I asked him why. Why was I sick? For what purpose? And the thing is, I knew he didn't have an answer before I finished asking the question. I was looking for validity, a free pass for the way I was feeling. There is no free pass.
Of course I wasn't the only one, and I knew that. It happens every day to the most wonderful people on the planet. I was by no means "wonderful." I had an enormous chip on my shoulder - and I did exactly what my mother told me not to do: Throw caution to the wind. That's when I experienced problems at home. I won't go into details out of respect for my family, but I felt there was more to life than going through the motions. Now that I look back at it, I took the coward's way out. I felt I deserved more, but who the hell was I to deserve more? It's been four years now, and I have to say that turned out to be the best move for all of us.
So, little by little, I try to carry on. Family and friends have definitely helped me to live for me instead of living for illness. I still struggle at times when I see "normal" men jogging down the street, walking arm-in-arm with a beautiful woman. Sure, I sometimes say "Lucky bastard" aloud when I drive by. It's all a process - growing and learning about myself, about tolerance and acceptance of what is. I'll get there eventually.
Wednesday, January 12, 2011
Living With Disease - A Journey
Welcome to my journey.
I am a 45-year-old man who lives with disease. The purpose of this blog is to describe, in detail, what life has been like from childhood to present day and how illness affected every conscious decision I've made since being diagnosed in 2000.
My life changed on that fateful day, but prior to that I recall several instances where things just didn't seem right. I've lost jobs, relationships, and a marriage along the way. I do not blame the disease, but I wonder just how much it affected the way I behaved, worked, played, and lived all these years.
In my next posting, I'll start with the name of the disease and what it is, then venture back to when I was a child. When I reach present day, I will discuss what life has to hold for me as I grow older.
M
I am a 45-year-old man who lives with disease. The purpose of this blog is to describe, in detail, what life has been like from childhood to present day and how illness affected every conscious decision I've made since being diagnosed in 2000.
My life changed on that fateful day, but prior to that I recall several instances where things just didn't seem right. I've lost jobs, relationships, and a marriage along the way. I do not blame the disease, but I wonder just how much it affected the way I behaved, worked, played, and lived all these years.
In my next posting, I'll start with the name of the disease and what it is, then venture back to when I was a child. When I reach present day, I will discuss what life has to hold for me as I grow older.
M
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