"I suffered from the age of 7 with sever symptoms but I was undiagnosed until the age of 25. I was repeatedly told there was nothing wrong by seven different hospitals and medical staff and it was likely to be a psychological issue causing the pain. During those years, it progressed to an unbearable level and my mental health and overall health suffered massively.

“I needed a heart operation when I was 18, but I still went undiagnosed.”

Raising awareness to avoid any other kids suffering through tortuous pain on a daily basis is vital in giving them a life worth living. 

For me, Fabry is something I try extremely hard to forget about as I go about my daily life but having Fabry is always there. It can affect all aspects of your life and leave you feeling depressed and anxious. The neuropathic pain, the feverish aches, and the muscle burning sensations are always there in some form or another. Due to 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 ever present. The poor circulation a lot of patients tend to deal with causes cold muscles which can cramp and cause spasms. Fabry causes many to have similar symptoms to IBS which makes eating spicy food unbearable. Meal planning is something that requires thought and eating out is challenging due to needing access to toilets for longer periods of time.

“Fabry is causing problems to my kidneys, heart, nervous system, stomach, and even my eyes and ears.”

It can take control of your life if you let it so it is important to manage symptoms in the best way possible. With pain medications, structure to daily life, doing what works well, and planning in advance for events and activities. 

I use medication, counselling, and tattoo addiction to deal with the pain and symptoms. I do tend to imagine the pain as tattoos. It helps me push through it if I imagine I am getting something in return. It’s not full proof and Fabry pain is a lot worse so it isn’t easy to think of anything but the pain. I do get tattooed every so often to remind me of the feeling. It’s not something I’ve heard anyone else try but it’s one of the tactics I use when the pain gets to me.

“Over the years, I’ve tried everything to mentally battle it. Especially when my GP told me it was all in my head. When the doctors kept telling me this, I built mechanisms because I believed I was just soft and it was all in my head.”

I’d love to talk to someone who went through something similar without being diagnosed and dealing with the severe pain as I have. I would love to know what they did to get by because looking back, I have no idea how I managed to it and did what I did.

Living a healthy lifestyle with limits to smoking, drinking and eating unhealthy foods is a priority.

“I just wish I was diagnosed sooner.”

I think awareness and testing Fabry patients early is key to giving patients the ability to manage the illness and slows down the progression before developing further problems.

So that’s why awareness month it so important.”

Thank you to ‘M’ for sharing their story.