Build your own support system

Jack Johnson, a U.S. citizen, has been diagnosed with Fabry disease, a rare disorder that affects the kidney in almost all male and in many female patients. He shares his experience with enzyme replacement therapy and how he working to raise awareness about his disease, as co-founder and executive director of the Fabry Support & Information Group (FSIG), has helped him through his journey.

What was your diagnosis, and can you briefly describe the treatment you have received?

Due to a family history of Fabry disease, I was diagnosed at an early age. I had many of the same symptoms as my maternal grandfather, and an enzyme test had been developed. For most of my life, there was no treatment for Fabry disease, and the only help available was to treat the pain and many other symptoms, either with medication, transplants or by avoiding triggers. In 1998, clinical trials began for enzyme replacement therapy, and I have been receiving this form of treatment since 2000.

What have been the most challenging aspects of being diagnosed and living with kidney disease?

Fabry is a rare inherited x-linked Lysosomal Storage Disease [Editor’s note: inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies] that can look like many other more common conditions. Few in the medical community are trained to recognize Fabry. It can be frustrating and difficult to find a doctor that actually knows more about your condition then the patient does. Unlike my forebears and many yet to-this-day, I was fortunate to receive a correct diagnosis before serious chronic kidney or cardiac disease became evident. 

How do/did you manage or cope with these challenges?

My approach was to take things one day at a time. Along the road a calling to advocate for others with Fabry found me, and I followed this path. I had learned the importance of being your self-advocate and the value of acting as an important part of your care team.

What are the most important learnings in your journey with Fabry disease?

Even though it can feel very lonely, you are never truly on your own.
If you look, you can find those beside you and those that can support you. Look for support groups and organizations in your disease area. Build your support system.

What do you think are the more important things that can help patients to live well with kidney disease?

We all have strengths, and you should not be afraid to share them whenever you are in need. Likewise, not being afraid to reach out for help when we struggle is a way to let others realize the strength that is carried within.

What sorts of things would you suggest helping patients become better empowered and be in more control of their health/life?

Start with a question! Sometimes the question itself is not as important as the act of asking. One question leads to more, which brings knowledge and awareness. Try to learn as much as you can about your health and what resources are available. Not every answers or resource are right for every person, so look for the ones that are the most helpful to you and your situation. Advances are occurring continually, and in today’s world, it is important to realize new answers are always coming.

What are your hopes and fears for the future concerning your disease and your life in general? Are you hopeful that you will be okay?

I have great hope that an increased understanding of the complex disease mechanisms will eventually lead to a cure, but I realize a window exists for administration before permanent damage occurs. I truly hope the administration and timing of this window will be utilized globally so tomorrow’s children receive no reminders of today’s disease realities. I do not know that I will see this day, but I am heartened by the fact that I am currently older than I ever expected to be and am maintaining stable kidney health for my disease

What is something you wish people knew about living with kidney disease?

Kidney disease results from more than diabetes and a handful of other causes. It is a blind condition that can affect anyone from anywhere. 

How did the recent COVID-pandemic change your experience with Fabry disease? 

The COVID-pandemic has taught me that what was once simple really may not always be so. We should be less complacent and more appreciative of what is around us and how interconnected we truly are. 

 

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