Written yesterday, February 28th Rare Disease Day
(from my iPad)
The irony of today’s events is not lost on me. Today is Rare Disease Day, and I was to travel to Toronto to be part of a symposium to discuss frameworks for complex care to support medically fragile and complex children. Instead, in true testament to the nature of Kate’s rare mitochondrial disease, I am at our children’s hospital with Kate waiting for a bed as she has been admitted because of an inflammatory cascades episodes.
Kate is diagnosed with a novel form of mitochondrial disease. The first person in the world diagnosed, and now thanks to international efforts of research and science, she is one of 10 known cases – and 1 of 4 children alive today with this yet to be named disease. Global expertise and science continue to collaborate to better understand this disease and to try to find a treatment or cure.
Kate’s disease is unpredictable and chronic. Both mean that life is never easy for Kate or for our family. We all live in the constant shadow of her disease, ready to react on a moments notice, ready to change the plans of that day as an entirely new one might be needed.
Rare Disease Day went unnoticed for the most part. There was no big celebration here in Canada. CORD (The Canadian Organization for Rare Disease) hosted a conference, but their media relations are poor and the I credible research and science and importance of rare disease awareness buildng went unnoticed by the media. In our way, Kate and I tried to raise awareness. I took to social media, and Kate…well Kate got sick and in doing so we educated a whole new group of doctors, nurses and technicians on her rare form of mitochondrial disease.
Kate is still in hospital, feeling crummy and still not stable enough to go home. In another wing of this same hospital and overseas and in the US, there are incredible scientists and doctoers trying to better understand Kate’s disease and to develop a cure. Though we have yet to meet most of them – and hope someday we will – we want to thank them for the work they do, for trying to save my daughters life. On this day that is dedicated to them and their patients I want to honour them.
Rare Disease Day 2013 – Rare Without Borders