Female patient from UK with variant R118C

I live in the UK. I’m sorry, but I only speak, English, so I can’t translate.

My journey has been long and hard.

When I was younger, I did a lot of ice-skating, so I always put the, pain in my legs down to the skating.

As I got older I had a few admissions, also, for stomach issues. But no one, could tell me why? They just said, my severe constipation, was the cause.

Over the years things progressed, where I started, getting unusual sensations, in my feet.

This would be a constant burning. Then it got to the point, I was experiencing, what I call, severe electric shocks. These are unbearable.

Over time, the pains in my legs got worse, to the point, in 2010, I ended up in a chair. As the issues were so bad. All this escalated over time where I can’t even take a shower.

It’s like when the shower hits me, the force of the water, is too much to bare.

I can only bathe, but I wear special bags on my legs to protect my feet from the water. It’s because my feet and legs hurt so much. If I’m in the water, I can’t regulate the temp. Plus when I get out the bath, if the cold hits me, I’m in agony.

Pushing forward.

In 2011. May I add, I’ve always suffered with my bladder and bowel.


My bladder, went into retention, where I could no longer wee.

So, I tried catheters etc, with no joy, as my bladder, would burn like cystitis.  Eventually, I was given a super pubic catheter. Through my tummy. Big mistake.

This caused so much pain and burning. Hosp admissions infections etc Where Eventually, I was offered a bag.  (stoma bag). As the catheters ruined my bladder, and caused, institial cystitis. in 2017, I underwent surgery.

So much in-between.  I’m jumping to 2019. As I said previously, constipation, as a child.

Well, I relied on laxatives, which caused, my bowel, to stop working. I underwent, so many tests and the food would not pass, so again, I was given another stoma bag.

Now I have 2 bags. You may say we’ll stoma are not part of Fabry. But it was the catheter s and other meds, that caused, my bladder and bowel to stop working.

Jumping forward. Sweating issues.

I used to think, I was lucky, as I ´ve never been able to sweat, till that started to impact me.

Over the years it’s all escalated, severe headaches, all over burning.

List continues.

So much more to tell you but I don’t want to bore you.  My mutation runs in my family from my father to sister to me, we all have symptoms but as my mutation is classed as a variant unknown. No treatment is available.  I am currently suffering from chest pain. It happens occasionally, out of the blue. It’s like a sharp pain…stabbing. And I have a heart murmour.

I wear hearing aids as my hearing is going and I also have tinnitus and vertigo.

As I’m getting older the issues are getting worse.

Thank you for reading. Take care all.