I’m a 27 year old, living with two very rare diseases, Familial Adenomatous Polyposis (FAP), and more recently an abdominal desmoid tumour (linked to my FAP).
Since diagnosis I’ve found that there is limited information out there on rare disease, and it can feel isolating, silent and scary. I hope to share my experience and give hope that life can go on amidst all the uncertainty, even though some days are hard!
I’ve now had all of my surgery to remove my large bowel, and cope surprisingly well without one! Instead I have a j-pouch (a surgically constructed internal reservoir made out of my small bowel).
Currently I’m tackling the desmoid tumour part of my illness. It’s a lot of trial and error, as it is so rare, there is not a lot of studies and those that are have been tried on such a small number of people. I’ve tried two types of chemotherapy and now I am on a notch inhibitor targeted therapy which has shown promising results in trials so far.