It took years for my symptoms to be finally recognised as Fabry Disease. By this time my heart had been affected and my life severely impacted. It also meant that two of my children had suffered delayed diagnosis and delayed treatment.
The signs that I had Fabry Disease were obvious from childhood. I had the neuropathic pains, I developed corneal whorls, I suddenly hit a brick wall when running even though I was extremely fit, and I started to have heart issues even though I had no apparent risk factors.
But no-one asked the question, ‘Could it be Fabry?’ until I collapsed in Manchester and was rushed to hospital with a life-threatening heart rhythm. Thankfully a switched-on cardiologist realised that something just wasn’t right, and rather than stabilising me and sending me on my way, he decided that further investigation was needed.
Now at what point could - or should - this illness have been picked up? Well that is an interesting question, and one that I will be exploring during Fabry Awareness Month in April.
What is important is that clinicians should know that Fabry Disease exists (many that I have come across recently have still never heard of it), that they understand what the symptoms are to look out for, and that these clinicians know the routes to the Specialist Teams who can facilitate treatment.
I hope that my efforts can help improve that knowledge – and even if just one person gets a diagnosis and treatment sooner because of this, then it would have been worth it.
If you have any information you would like to share about your journey to diagnosis, then I would love to hear from you. Email me here, or use the contact form on the menu tab.
Thanks for reading.