My Journey with Fabry Disease

I suffered from the age of seven with severe symptoms, but I remained undiagnosed until the age of 25. For years, I was repeatedly told by seven different hospitals and various medical staff that there was nothing wrong with me. They claimed it was likely a psychological issue causing my pain. During that time, the condition progressed to an unbearable level, and both my mental health and overall health suffered massively. I even required a heart operation when I was 18, yet I still went undiagnosed.

Raising awareness to prevent other children from suffering through such torturous daily pain is vital. It is essential to give them a life worth living.

For me, Fabry is something I try extremely hard to forget as I go about my daily life, yet it is always there. It affects all aspects of your existence, often leaving you feeling depressed and anxious. The neuropathic pain, feverish aches, and muscle-burning sensations are ever-present in some form. Because of this, exercise is almost impossible. Holding attention and focus is difficult, and the fear of triggering a full-blown 'Fabry crisis' by simply walking the dog is a constant weight.

The poor circulation that many patients deal with causes cold muscles, which can lead to cramps and spasms. Fabry also causes symptoms similar to IBS, making spicy food unbearable. Meal planning requires significant thought, and eating out is challenging due to the need for prolonged access to facilities. Currently, Fabry is causing problems with my kidneys, heart, nervous system, stomach, and even my eyes and ears.

The condition can take control of your life if you let it, so managing symptoms is crucial. I do this through pain medication, maintaining a structured daily routine, and planning events well in advance.

I use medication, counselling, and what I call a 'tattoo addiction' to deal with the symptoms. I tend to imagine the physical pain as the process of getting a tattoo. It helps me push through if I imagine I am getting something in return. It isn't fool proof, Fabry pain is much worse so it isn't always easy to focus on anything else. I still get tattooed occasionally to remind me of that feeling. It’s not a tactic I’ve heard anyone else use, but it helps me when the pain peaks.

Over the years, I tried everything to battle it mentally especially after my GP told me it was 'all in my head.' Because doctors kept repeating this, I built internal mechanisms because I believed I was just 'soft.'

I would love to talk to someone who went through something similar, dealing with severe, undiagnosed pain for years. I want to know what they did to get by, because looking back, I have no idea how I managed to do what I did. Today, living a healthy lifestyle with limits on smoking, drinking, and unhealthy food is my priority.

I just wish I had been diagnosed sooner.

Early testing and awareness are key to giving patients the ability to manage the illness and slow its progression before further problems develop. That is why Awareness Month is so important."

An Update

After almost eight years, my clinical trial has finally come to an end.

Within those eight years, my life has transformed. I went from needing 24-hour care staff to support me in almost every aspect of my life, living alone with no real prospects to completing a psychology degree, a counselling course, and a coaching course. I have even set up my own coaching business.

I have reduced my pain medication, totally coming off ketamine and diazepam, which has allowed me to think clearly and feel more alive. I no longer need any care support at all. Soon, I will be living full-time with my partner, whom I am marrying this May!

My prospects were bleak eight years ago. I was prepared to simply wither away as my condition worsened. Now, I am looking toward the future. We are currently arranging genetic counselling to begin IVF so we can have a son who won't carry this gene mutation.

Things have completely turned around. This trial has enabled me to begin my life again, and I want to thank everyone at MPS/RDRP who helped and contributed to making these trials possible."