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It explained more than just me

Fabry Disease

PriyaMCaregiver

Fabry Disease·17d ago

My son was diagnosed with Fabry disease when he was nine. Looking back, there were signs from early childhood — he avoided hot food, hated sunny days, and would sometimes just stop and hold his feet with this look on his face that I now know was pain. After his diagnosis, I started reading about the genetics and realised my father probably had it too. He passed away from kidney failure in his fifties, and nobody ever connected the dots. It's a strange feeling — grief mixed with understanding. Being a caregiver for a child with a rare disease is isolating in ways I didn't expect. Friends are sympathetic but they can't really relate. I'd love to hear from other parents or caregivers in this community. How do you explain the condition to schools? How do you balance being protective with letting them just be a kid?

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Heat and exercise never suited me

Fabry Disease

TomWDiagnosed

Fabry Disease·17d ago

I was the kid who sat out of PE whenever it was warm. Teachers thought I was being lazy. My parents thought I was being dramatic. I knew something was wrong but I couldn't prove it — my blood tests always came back "normal." It wasn't until my younger brother started having the same symptoms that our GP finally referred us both. Turns out we both have Fabry. My mum carries the gene and has milder symptoms herself, which she'd always written off as "just how she is." Getting the diagnosis changed how our whole family understands health. I wish it hadn't taken so long, but I'm grateful we got there. If you're reading this and your symptoms keep being dismissed — keep pushing. You know your body better than anyone.

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Pain I never managed to describe properly

Fabry Disease

ClaraRDiagnosed

Fabry Disease·17d ago

For years I told doctors about burning in my hands and feet, especially when it was hot outside. They kept saying it was growing pains, then anxiety, then "just one of those things." I remember being about twelve and crying in a cold bath because it was the only thing that helped. Nobody around me seemed to understand why heat was such a big deal. When I finally got diagnosed with Fabry disease at 24, reading about acroparesthesia was like someone had written down my life. I genuinely sat there thinking, "other people have this too?" The relief of having a word for it was almost as powerful as starting treatment. I still struggle to explain it to people who haven't experienced it. "Burning" doesn't quite capture it. Has anyone found a way to describe it that actually lands with friends or family?

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