I was diagnosed with #Fabry Disease at the end of 2015 after being quite ill for almost two years. Although I did have some indications of Fabry beforehand, my symptoms really began to ramp-up due to a build-up of extreme stress at work. Thus began a cycle of severe angina and suspected heart attacks, accompanied with (unsurprisingly!) depression and anxiety. Emotional stress was a specific trigger and my symptoms became increasingly severe.
I had a particularly bad episode and was taken to hospital where I was referred to a cardiologist with an interest in cardiac arrhythmias. He looked at the problems that I was having and decided that there must be an underlying reason my heart was reacting so severely to the stress I was under.
He was the wonderful Dr. Luigi Venetucci, and to him I will be eternally grateful. He went on to see me in clinic, together with a genetic counsellor, and I was offered a test to look for genetic cardiomyopathies. After several months I received a call to say that they had not found a #genetic #cardiomyopathy, but had found a mutation for Fabry Disease.
Fabry Disease? I had never heard of it. Nor had anyone I knew - including my very on-the-ball GP. I was told that it was a genetic condition, and that my children could have inherited it from me. And sure enough my children were tested and two of my three children also have the condition. Well if I felt guilty about things beforehand (like working, missing sports days...) that paled into insignificance alongside what I now felt knowing that I was responsible for passing the Fabry #gene to them.
There was good news though. Treatment was available. And although it may not do much to improve my heart issues, it could stop them getting worse. And most importantly, could prevent my kids from developing major organ damage in the future.
And so began my Fabry journey.