Imagine being 9 years old again.
Imagine feeling your hands and feet burning for hours or days at a time.
At first you told people. You went to the doctor once, twice. The third time blood was drawn, x-rays were taken. The doctor told your mother you were fine, it's all in your head. You sense your father's disappointment on the days you just cannot walk any further.
You look at your hands, your feet. They look normal. They feel as though they have been licked by a dragon.
You are in your late twenties now. A spot check of your urine for a pre-employment physical showed proteinuria. Further tests show you kidneys are failing.
Finally, armed with an objective finding, a physician probes a little further. A great uncle died of renal failure at 53. Another died of a stroke in his 40's. No one asked why. These things just happen
Yes, you had a funny rash as a child, yes, you had heat intolerance (indeed, you did not sweat), yes, you frequently had belly aches. Still, people said it was in your head, and so you blamed the dragon.
Now the dragon had a name. Fabry disease.
"When I was young, I would have diarrhea once in a while, and the doctors just assumed that it was lactose intolerance. I also had problems with heat as a child. I was told it was all in my head, or lactose intolerance. That was when I was about 4."
Christopher, from Patient Profile, www.fabrycommunity.com
Fabry disease is a rare
X-linked genetic disorder affecting about 1 in every 40,000 males. The body lacks an
enzyme called alpha-galactosidase A (alpha-GAL) that allows the body to break down a fatty material called globotriaosylceramide (or GL-3). Without alpha-GAL, the GL-3 builds up and damages cells.
The organs particularly affected are the kidneys, heart, skin and brain. Average age of onset of symptoms is 10 years; average age of diagnosis is 28 years; many patients are never formally diagnosed.
The first symptoms I recall occurred when I was about seven. If I ran vary far my feet would start hurting and I would fall to the ground in great pain. I then started having attacks where my feet and hands would burn and hurt. These attacks would sometimes last two or three days. I realized I did not sweat and could not handle heat like others. As I got into my upper teens the pain started affecting my whole body, like a bad flu it hurt everywhere but much worse.
Jack Johnson, age 40, in Fabry Suport and Information Group, personal biography
Childhood symptoms include acroparesthesia, pain in the feet and hands described above; clusters of dark red spots generally between the
belly button and the thighs called
angiokeratomas; decreased sweating (anhydrosis), and corneal changes that do not affect vision. Adults may present with kidney failure, stroke, or heart problems.
In the spring of 2003, enzyme replacement therapy for Fabry disease was approved by the FDA (Fabrazyme, by Genzyme). Patients receive intravenous infusions every 2 weeks, at a cost of $160,000 per year. Many patients have had marked improvement with Fabrazyme, reversing some of the damage done by the illness.
The image of the dragon was taken from a family with several members fighting the disease. The Fabry Dragon has become a symbol of the Fabry Support and Information Group (www.fabry.org).
Since I started using this term as a metaphor for Fabry disease many years ago, I will explain further about my "Dragon". It always seemed difficult/awkward for me discussing my disease, particularly in public. I was in college and the idea struck me after seeing a movie about King Arthur where the magician Merlin referred to "The Dragon" as a beast which was unseen but none-the-less could still affect us. Fabry seemed like such a beast. Something one could not purge but had to be dealt with on your own.
Jack Johnson, in The Newsletter of Fabry Support & Information Group Volume 1 * Issue 2 December 1997
In our family, we have personified the affects of Fabry by referring to it as "The Dragon". It is a quick way to let family members know the difference between "Oh, I don't want to do that right now." From "I'm hurting and need to rest." It also serves to give us all a focus for our frustration. We love the person, we just don't like the Dragon and what it does to our loved one.
"Debbie" in The Newsletter of Fabry Support & Information Group Volume 1 * Issue 1 April 1997
With the advent of enzyme replacement therapy, the dragon looks a little less menacing.
Sources:
Fabry Support and Information Group, www.fabry.org
Fabry Community, www. fabryommunity.com, a website for Genzyme Therapeutics