Navigating the Unseen Battle: Finding Hope and Strategies in Fabry Disease

Last updated May 18, 2025, by Sanofi

 

This is a sponsored post written in collaboration with Sanofi.

For many living with Fabry disease, symptoms, including pain, are frequently overlooked, yet deeply disruptive. They can be unpredictable, misunderstood, and isolating. Yet, within this struggle lies a shared experience, a testament to resilience, and an ongoing journey toward effective management.

Jorge, a person living with Fabry disease, embodies this resilience. He characterizes his care journey with a familiar phrase: “Whether you think you can, or you think you cannot, you’re right.” He adds, “Staying positive has always come naturally to me, but I’ll admit, Fabry is one thing that challenged that philosophy early on.” His story highlights the delicate balance between maintaining hope and confronting the reality of living with Fabry.

Understanding the Symptoms of Fabry Disease

Fabry disease, a rare X-linked disorder, affects the body in many ways, and can bring a wide range of symptoms and organ involvement due to the impacts of globotriaosylceramide (GL-3) and lyso-GL-3, the substrates which accumulate in this disease.1 People living with Fabry disease may experience skin changes such as small, dark red spots called angiokeratomas, gastrointestinal issues like nausea, cramping, and diarrhea, reduced ability to sweat, changes in vision or hearing, fatigue, and over time, complications affecting the kidneys, heart, and brain.2,3

Understanding the Nuances of Fabry Pain

While no two journeys look the same, one of the most commonly reported and disruptive experiences is pain. Learning about these distinct types of pain can empower you to better identify and communicate your symptoms:

  • Neuropathic pain: Often described as burning, tingling or shooting sensations, particularly in the hands and feet. This is believed to be due to globotriaosylceramide accumulation in the nerves near the spinal cord and blood vessels around the brain.
  • Fabry crises: Intense, debilitating episodes of pain that can last for hours or days, often triggered by fever, exercise or changes in temperature.
  • Other related pains: Including gastrointestinal issues (cramps, diarrhea), joint pain and discomfort associated with the kidneys.

People living with Fabry experience many symptoms, including pain that is real and biologically driven, yet it is often misunderstood and undertreated. Jorge’s earliest memory was at age eight: “I felt hotter than usual and then I started to feel a burning sensation deep in my hands, like iron pressing on my fingers.” His diagnostic journey was long, marked by misdiagnosis and the challenge of explaining unusual symptoms. “As young as I was, I tried my best to explain what I felt and advocate for myself,” he recalls.

Empowering Patients: Tracking and Communicating Symptoms Effectively

Effectively tracking and communicating your Fabry symptoms is crucial to helping your care team understand your unique experience and create a plan tailored to you. A simple symptom journal (noting type, duration, triggers, and relief strategies) helps you understand your patterns and provides concrete information for your healthcare team. Some symptoms, like pain, can have triggers which appear different for everyone, and in some cases, do not appear to have any triggers. Jorge learned to recognize triggers for his pain, like barometric pressure changes, helping him anticipate flare-ups. Communicating the pain was also important to him.

“My brother has been one of my greatest sources of support. When storms came in and the pressure changed – we’d brace for impact and cope with the pain, together.”

Managing Fabry Symptoms: A Holistic Approach

Managing Fabry disease often requires a multi-pronged approach, combining medical interventions with thoughtful lifestyle adjustments.

  • Medical Strategies: While disease-specific therapies address the underlying cause, symptoms can persist, so consulting a Fabry specialist is vital.
  • Lifestyles Strategies: Beyond medical treatments, lifestyle strategies can significantly impact your disease management:
    • Identify and avoid triggers: Overheating, overexertion and stress are common triggers for Fabry disease symptoms. Learning to recognize and minimize exposure to these can be highly beneficial.
    • Utilize physical tools: Simple measures like wearing gloves to manage temperature sensitivity, staying well-hydrated, ensuring adequate rest and employing cooling strategies can provide relief.
    • Embrace gentle movement and mental health support: Regular, gentle exercise that is tailored to individual capabilities can improve overall well-being. Mental health support such as journaling, quiet personal time and therapy can help process the emotional toll of Fabry disease.
    • Prioritize sleep and nutrition: These foundational elements of health are often overlooked but play a critical role in Fabry disease perception and overall resilience.
  •  Partner with Your Healthcare Team: Disease management is most effective when it is a collaborative effort with your healthcare providers. Having productive conversations may be achieved by:
    • Be prepared and specific: Bring notes to your appointment or use a journal to describe your experiences, no matter how unusual they may seem. Share details with your physician about the type, intensity, and impact of your symptoms.
    • Be honest and persistent: Do not downplay your symptoms. Advocate for your symptoms, such as pain, to be addressed, even if it requires multiple conversations or a second opinion.
    • Set realistic expectations: Be patient with yourself and your healthcare team as you work together to find what is most effective for you.

For Jorge, diagnosis was a turning point: “I never thought I’d be so happy to be diagnosed with a disease,” he says. Effective management has reduced his symptoms. Jorge still enjoys dancing, attending sporting events, and camping. “I’m thankful to live in a time when Fabry-related symptoms can be understood and managed,” he says.

Jorge has developed his own routine to cope. He says, “Warming up my hands helped with burning, and I would often wear gloves during soccer games. My mother and brother offered practical advice, like suggesting that I take my shirt off and drink lots of fluids to cool down.” He emphasizes the importance of mental resilience, too: “Taking my mind off pain was hard — I would breathe and just listen to my body.” Today, he maintains a daily workout routine, journals, and takes quiet time, recognizing that these practices improve his mood and help him manage daily life.

Embracing Life with Fabry

The emotional toll of symptoms can be immense. Jorge recalls a low point at age 14: “I hated my body due to the relentless pain.” However, with support, he found ways to cope and regain joy, now advocating and sharing his story. “Knowing what it is and what I can do has made the fight a little easier,” Jorge shares.

Managing Fabry disease is a journey you don’t have to walk alone. By understanding your symptoms, tracking its patterns, exploring strategies, and partnering with your healthcare team, you can build a personalized care plan. Jorge’s powerful message: “If you believe you can work through challenges, you can — and you will.”

Support and resources are available for people living with Fabry disease. Understanding your symptoms and working with your healthcare team can help you take an informed approach to managing Fabry disease. Learn more about Fabry disease resources and support at Sanofi CareConnect.

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  1. van der Veen SJ, et al. Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels. Clin J Am Soc Nephrol. 2023;18(10):1272-1282. https://doi.org/10.2215/CJN.0000000000000239
  2. Germain DP. Fabry disease. Orphanet Journal of Rare Diseases. 2010;5:30. https://doi.org/10.1186/1750-1172-5-30
  3. Mehta A, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. European Journal of Clinical Investigation. 2004;34(3):236–242. https://doi.org/10.1111/j.1365-2362.2004.01309.x