This Fabry Awareness Month, we are featuring a range of articles from guest bloggers describing their relationship with Fabry disease. This week, we have Naomi, who has been living with Fabry for 12 years.
Information contained in these articles has been collected and written by our guest blogger and does not necessarily reflect the opinions of the MPS Society or its Board of Trustees.
My name is Naomi, I am 22 years old and I have Fabry disease. I was diagnosed when I was 10. Having a chronic health condition is time-consuming. There are hospital appointments, travelling to hospital appointments, the days written off because of poor health. The diagnosis came as a relief for me and my family because we'd always been accused of making everything up, of being fakes. Diagnosis for me was a form saying 'you were honest after all.
When I was a child, I was treated with an enzyme replacement infusion every two weeks. Thanks to my mum and a nurse's expertise, I could undergo treatment in the comfort of my own home. I'm now on an oral chaperone therapy, which is easier to fit around my life. As well as this medical support, I've also received emotional and personal support from friends and family. After many disappointments of arranging time together and having to cancel, we've come up with a system. We create two alternative days together: one for if I'm well, where we can go out together, and another for if I'm sick, where we can just snooze on the sofa together. Friendship isn't about doing cool stuff, it's about being with the people you love and Fabry never took that from me. Aside from the support over the years and the incredible work for awareness that the MPS Society do, the thing that strikes me most about the MPS is the first event I went to. Diagnosis can be a really isolating experience; you're forced to reinvent yourself. But that first event showed me that my Fabry diagnosis opened my eyes to this wonderful community. It wasn't about isolation, it was about connection, and that's what the MPS Society means to me. I enjoy having the opportunity to tell my story, as everyone's stories matter. I spend a lot of time doing creative writing and am working towards a novel. In a recent hospital admission, I rediscovered my love for drawing. Fabry disease has given me a unique perspective that I draw from in my creative endeavours. Although my health issues meant I couldn't attend a physical university, I've been studying with the Open University part-time for nearly two years. This format means I'm able to achieve my goals like any other student. Fabry might cause things to be more awkward, but there's no need to let it consume a life worth living.
If you would like to know more about Fabry disease, please visit our dedicated Fabry page.
Fabry Matters Conference 2024
1 Mar, 15:00 – 3 Mar 2024, 12:00
Join us in this ground-breaking approach to Fabry collaboration for the benefit of our community.
See the full event details for more information and registration.