“It Took 23 Years to Find out I Have Fabry Disease:” A Rare Patient Story From The Czech Republic

Bohuslav Skoupý had trouble with his kidneys. He even had a transplant. He also had heart problems. In the end, it turned out actually by chance that Fabry disease was behind it all. It took 23 long years.

But as Mr. Skoupý says: “I got my diagnosis and treatment late, but better late than never. And that’s why I’m a happy patient.”

When I was 30, I was in a car accident, and in the hospital they found out that I had high blood pressure, among other things. Since then I’ve been taking pills and have gone in for regular checkups. But there was something that wasn’t quite right with my heart. I didn’t understand why. I’d lived quite healthily. The heart problems deepened, and on top of that, at age 40 I started to have impaired kidney function. After that my health deteriorated significantly. I had to start dialysis and at age 51 I got a disability pension.

When my doctor announced at the disability commission that I was officially fully disabled, I replied:  “Well, I don’t know if I should thank you or be sad…”

Of course I needed the disability pension because I couldn’t go to work, but the finding that I was disabled really weighed heavily on me.

 Three years later my kidney was transplanted. After the operation I was physically and mentally not very well, but luckily it soon improved and the kidney has been working to this day. It was worse with my heart. They put me on beta blockers, which brought my heart rate down radically, to around 29 beats per minute. Then I had problems with any kind of demanding activity. They didn’t give me beta blockers any more and instead I got a pacemaker, then a second one, and soon after that a third one, this time with a defibrillator. I go to cardiology for regular checkups, where they give me an ECG. At age 56 I had cataract surgery on both eyes, and then I had a stroke and a heart attack.

When I was 63, the doctors somehow discovered that it was Fabry disease that was behind everything that happened to me. The happenstance was that I got to the faculty clinic on Prague’s Charles Square and just across the hall from my cardiologist is the Fabry disease center. My cardiologist knew the doctors from that center and together they concluded that it made sense for me to take the test.

 They took my blood and found out that I really had Fabry disease. I went through DNA confirmation tests and they added me to an ongoing clinical trial of a new medicine.

The trial ended after a year, but fortunately I got one more year of treatment from the drug manufacturer. But what next? The insurance company did not want to cover the relatively expensive treatment. They bounced me between their various offices, and it was quite unpleasant and sometimes even undignified; but I had to endure it if I wanted to be treated. After 23 years of serious health problems, when you finally know what’s wrong with you and you know that this disease exists and that there’s an effective medicine for it that helps you, you do your utmost. But when the insurance company kept refusing, the hospital helped me and paid for my treatment for about a year. Of course I was still worried about what would come next, but in the end everything worked out and since then my insurance company has been paying for the treatment.

 The Fabry disease center is a great place and the doctors and nurses there are excellent. I sit there every two weeks or so for more than an hour for my infusion, but I take it as a form of relaxation. The infusion treatment doesn’t cure the disease, but it prevents further organ damage. The bad thing is that what’s already happened in my body can’t be undone by treatment, but at least a small improvement can be seen. The Fabry disease center is on the 4th floor and there are 99 steps to get up there. When I started going there a few years ago, I took the elevator. It was unthinkable that I’d make it all the way up. Today I take the stairs. I get some rest upstairs and I’m happy that I did it.

I never enjoyed sitting around. I’m always happy to do something interesting, or to make something. I’ve enjoyed technology ever since childhood. We didn’t have a lot of money. My family didn’t help me buy anything extra. I earned 20 cents per week for ministering in church, and I gradually saved up for my first camera. It was a German Altissa camera, and back then it cost 45 Czechoslovak crowns. In order to take pictures, I made an enlarger from an old broken camera, two lenses and a stove pipe. I liked to work with wood, and made a whole lot of things from wood. When I was trained as a metal cutter and had some engineering experience, I made a circular saw for woodworking and then a planer with a broaching machine.

I ended up working with metal professionally. I started to enjoy grinding and maybe because of that I really excelled at it. I started getting trusted with more demanding orders in my company. I was able to grind products to within a thousandth of a millimeter, of course using cutting-edge technology. I did that for decades and with love. I love to remember that time. Unfortunately my health problems gradually started to make my work more difficult, until it finally became completely impossible. I was almost 50. Before I left work, I bought a good grinder and some excellent Japanese measuring instruments so I could start working from home. Customers came to me. I made a little extra and for some time I was able to do it even on my disability pension, but then I got very sick and I wasn’t able to complete orders. That was totally contrary to my principles with how I’d always approached work. I wasn’t able to fulfill what I’d promised my customers. Since then I haven’t taken on any work from home. Sometimes I’ll grind something for relatives or for friends. I’m not working on the machine any more, but I still have it at home, because I’d feel bad selling it.

When I look back, there’s a lot the disease has taken away from me but I always take pleasure in the fact that I’ve met a lot of great people. I’ve never had as many friends as I have now.

First I joined the Society of Dialysed and Transplanted and started going with them on spa treatment visits and going to rehabilitation exercises, which helps me a lot.

My wife got Parkinson’s disease and also got a disability pension, so I joined the Parkinsoners and she does the accounting for the organization. I took pictures and occasionally wrote an article for their magazine. Finally I found out that there’s an association called Meta for patients with storage disorders, including Fabry disease. I take part in the treatment visits to the town of Pastviny, where we have an excellent program as patients. I always look forward to it and of course my camera, now digital, doesn’t stay at home. As much as I can I take part in the activities of Rare Diseases Czech Republic as part of the working group to identify other patient associations. Rare diseases need to be talked about and all of our experiences need to be shared with each other.

 When I have a little time, I work on my family tree. I love to search for my family’s past. A person becomes aware of a deeper connection in human life and is grateful to those who have left us but without whom we wouldn’t be here today. It confirms in me the belief that it pays to do good things and to be beneficial to the people around you. Everything counts and everybody can do something. Because I’ve gone through it myself, I find it important that people with rare diseases know which illness they actually suffer from and to get treatment if there is one. Starting treatment early can prevent a lot of irreversible complications.

Written by Bohuslav Skoupý

Note: Bohuslav’s patient story is the first in a six-part series that features rare patient stories from the Czech Republic. Tune-in for the next six weeks on Wednesday mornings to read these accounts from rare disease patients.

Share this post