Every year on the last day of February, rare diseases are recognised, as well as the challenges that come with the disease such as getting an initial diagnosis, being listened to by health professionals and finding treatment options.
There have now been five rare disease days since I received my diagnosis of Familial Adenomatous Polyposis (FAP) in October 2014. My initial diagnosis was then followed by another rare disease linked to FAP called a desmoid tumour.
The zebra often symbolises rare disease, because of the uniqueness of their stripes that all tell a different story – no zebra is the same, but there is common ground in that they all have black and white stripes.
It took me a few years to acknowledge the power of finding that common ground with others in the rare disease and chronic illness communities, but since I have it has made the burden of being different and going through struggles you wouldn’t even think of in your 20s that much easier. Knowing that I’m not the only one who has struggled with identity after chemo-induced hair loss, or that life and socialising takes it out of others as well and prioritising rest is a must from time to time – it’s things like this that I have found so helpful through connecting with people.
These days I also appreciate much more the opportunities that come up to raise awareness about rare diseases. A few months ago I felt really happy that during a hospital stay, for dehydration whilst overseas on holiday, I could raise awareness about one of my rare diseases, the desmoid tumour. I’m in such a routine of seeing doctors who have familiarised themselves with my condition that I forget that majority of medical professionals will never come across this type of tumour in their career. The doctor I saw during that stay was so surprised at how aggressively it grew in my abdomen, and genuinely was interested in how it was being treated.
There’s lots of hope and promise coming out of research into desmoid tumours, and smaller pharmaceutical companies (or subsidiaries of the larger ones) who are taking an interest in rare disease and rare cancer treatments. I’m also so grateful for organisations like the Desmoid Tumor Research Foundation in the US that keep fighting for answers for desmoid patients like me.
2019 is looking hopeful for me. My desmoid tumour is stable, and has been for close to three years. I find out in a few weeks whether I can look into doing my treatment less often and that to me is a HUGE milestone so I have all my fingers crossed.