Emily Hyde* was diagnosed with Gaucher disease, a genetic condition caused by a missing or deficient enzyme after the birth of her first child in 1988.
An unknown illness became a diagnosis
Before I was diagnosed with Gaucher disease I’d never even heard of it. It affects the liver, spleen, muscles and bones. The worst thing is the fatigue. People ask me if I’m tired, but it’s much worse. On a bad day I feel like I’ve got really bad flu, and on a good day I feel like I’m recovering from flu.
I had no idea I had the condition until I was pregnant.
I was just 24 when I was diagnosed. I had no idea I had the condition until I was pregnant. I was much bigger than I should have been in pregnancy so after I had my daughter they did some tests.
I’m now on loads of medication, which keeps things at bay. I was on a drip at first, but now I’m on tablets three times a day. They do have side effects; I get the shakes and struggle to swallow, but it’s much better.
People ask me if I’m tired, but it’s much worse.
I have no idea what the future will hold. I’d love there to be a cure, but I know it’s too late for me. I’m lucky I’ve got a really supportive partner and good friends and family. I just take every day as it comes.
*name has been changed to protect the anonymity of the patient
