"Living with Fabry causes a lot of worries for me. When I was younger, it was little things like wondering every day if you're going to have GI problems or not, or how you might handle warm weather and if you'll overheat and be in pain. As I get older, I worry more about bigger concerns.

“Is my heart okay? Is the treatment working well enough? Could I have a stroke? There is an undercurrent of worry.”

With treatment, a lot of the barriers I faced are lesser for me personally, although I think I’m very lucky in that regard. I used to have much worse GI symptoms that appeared to be random; cramping, diarrhoea, bloating, that would come in ways and last for hours. There’s a good chance when you’re dealing with that, that you can’t leave the house, so you might have to call out sick. In the US, I had limited sick time so it was a big challenge to try to get through it and get going. With my current career, it involves visiting clients in their labs to work on equipment, and missing work means rescheduling last minute. I am fortunate that treatment has really helped with the GI issues otherwise it would be much more difficult to get to work. Even now, I have somewhat low exercise tolerance and overheat due to low sweating, so working at customer sites with large campuses can be a problem in the summer.

“I usually plan way ahead for warm days to have time to stop and cool down and drink water if I have to walk anywhere.”

 Most of my symptoms now are the ‘invisible’ ones, I have some left ventricular hypertrophy, hyperhidrosis, and GI issues mainly (luckily GI issues happen way less often and are less severe now).

“My kidneys seem okay from all the tests but it’s something that needs monitoring.”

Knowing my diagnosis from an early age definitely had some impact on certain decisions, especially about not having children. The genetics of the disease mean that if I had a son he wouldn’t inherit it, but having a daughter would mean she’d definitely have the genetics. Because of that, I decided that I didn’t want the risk of passing this on and opted not to have kids. There are a million reasons people choose to have kids or not, so a Fabry diagnosis doesn’t mean one shouldn’t, it just informed that decision making for me personally.

Enzyme replacement therapy is the biggest help for managing symptoms, otherwise there doesn’t seem to be a lot I could do. GI symptoms don’t respond well to OTC treatments, like bismuth tablets, so it’s just getting through. I also take Plavix as a primary stroke prevention.

My family was pretty well informed and I was diagnosed as a child. At the time, there was no ERT, it was only when I was in late high school and early college that any ERT studies were happening. Part of me wishes I could have been on the studies then, but it was too disruptive in my circumstances to participate and looking back I’m a little glad. Never being on ERT prior to the clinical trial may have helped me be a candidate for it, and all the information I have indicates its better treatment than the other ERT option.

“I would also say, once again, that I know how lucky I am given the circumstances.”

 My symptoms are mild compared to some people I know, including cousins in my family. I have fantastic care and some treatment. Not everybody gets those options, even if a research study makes it free.”

Thank you to ‘D’ for sharing their story.