Fabry disease pain can manifest in a variety of ways

My inspiration for writing about Fabry disease pain this month came from the graphic representation of pain shown below. Neuropathic pain is a common manifestation of Fabry that is studied and written about frequently, but this illustration is unique. It was shared with me by the pharmaceutical company Sanofi in my role as president of the National Fabry Disease Foundation.

This depiction of Fabry pain is a product of a recent patient advisory board meeting that Sanofi held to learn more about patients’ experiences with pain. Attendees’ thoughts were documented and transformed into this relatable visualization.

Graphical representation of Fabry disease pain. (Courtesy of Sanofi)

Understanding Fabry pain is an important ongoing area of study that began decades ago. It remains a frequent topic of discussion and research because it significantly affects many individuals’ daily activities and quality of life. Hundreds of peer-reviewed scientific articles have been published about various aspects of this symptom.

For many people, Fabry pain is just annoying and minimally disruptive. For others, it worsens to become severe and debilitating. Understandably, chronic pain can affect a person’s mood, demeanor, and personality, as well as their school, work, and social life.

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Through the scientific literature available, talking with others, social media discussions, and my personal experiences, I’ve learned that manifestations of Fabry pain are complex and often difficult to treat. The type, location, severity, age of onset, triggers, treatments, and effects on quality of life vary widely among individuals. One article published in the journal Pain describes neuropathic Fabry pain as “burning, searing, squeezing, pressing, dragging, prickling, electrifying, tingling, sharp, and sore.” Other articles include additional unpleasant descriptions.

When I studied the pain graphic, which is a sort of mind map of the advisory group members’ thoughts, I compared their thoughts with my experiences and what I’ve learned from others. The graphical depiction is not all-encompassing, but I think it’s a good representation of the diversity and complexity of Fabry pain and its effects.

My personal relationship with pain

My pain changes often and I often experience various types simultaneously. Because I get many random, sharp, shooting pains all over my body, I can especially relate to the image of the voodoo doll in the center of the graphic. My version of the concept is that I feel like I have microscopic gremlins — those mischievous creatures of folklore in a super downsized form — running around my peripheral nervous system with their little bags of tools to stab, poke, pinch, cut, and sting me. Their modus operandi is to hit and run as they disrupt my comfort and peace of mind at their whim. My pain isn’t any fun, but isn’t not debilitating, like many others report.

My pain experiences primarily fall into the three categories below:

1. Frequent, random, sharp, shooting pains are delivered by the gremlins. Most of my pain is invisible to others, but these manifestations may be visible in instances of me flinching, grimacing, or clenching my teeth with the occasional quiet yelps.

2. Chronic, widespread flu-like achiness sometimes affects my desire or ability to participate in various activities. I’ve had some level of general achiness nearly every day for many years. It worsens with strenuous activity, temperature and humidity changes, and fevers. This affects my qualify of life the most because I don’t always feel like doing the things I’d like to do. Fortunately for me, Tylenol usually takes the edge off and I don’t need to use stronger medications.

Jerry’s hands during an episode of Raynaud’s.
(Courtesy of Jerry Walter)

3. The sensations of burning, tingling, pricking, and numbness in my extremities are known as acroparesthesia. This is often one of the earliest reported symptoms of Fabry. These sensations don’t affect me to the extent that they affect many others, except for when I have episodes of Raynaud’s syndrome secondary to Fabry. When this occurs, reduced circulation causes my hands to change colors. I also experience numbness and tingling, but it isn’t too painful. The stinging sensation as my fingers regain circulation hurts the most.

I’ve learned that Fabry pain is personal and the way it affects each individual is unique. Everyone’s visualization of their pain may look different, with a mix of common and distinct features. No one can fully understand another person’s pain or how it affects their life.

For that reason, we need to practice patience and understanding. Just because we can’t see someone’s pain doesn’t mean it’s not real!

I hope that continued awareness and research on Fabry-related pain leads to better understanding, more effective remedies, and ultimately, better lives.

Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Fabry disease.