Familial Adenomatous Polyposis and Desmoid Tumour

In the last two and a half years I’ve been diagnosed with two very rare diseases, Familial Adenomatous Polyposis (FAP), and more recently with an Intra-Abdominal Desmoid tumour (linked to my FAP).

It was October 2014, when I was 25, I woke up from a colonoscopy to be told that my colon was carpeted with hundreds of polyps (pre-cancerous growths) that will 100% end up as bowel cancer if not removed. Immediately I was asked if I had a history of bowel cancer, or any cancer, in the family which I had never even thought of before as the answer was no. Shortly after I was diagnosed with FAP after genetic testing and referred to see a colorectal surgeon.

I was told that I needed to have my entire large bowel removed and majority of my rectum, to form a j-pouch, a surgically constructed internal reservoir out of my small bowel. In order to let this heal, it was to be a 2 step surgery where I would need a temporary ileostomy (stoma) for 3 months. I had my first surgery in September 2015, survived having a stoma for 3 months and then had my second surgery in December 2015. Things were looking up, I recovered well from my surgeries with no complications and was back to living a pretty normal life.

Just as I was finally on the mend, I found out in April 2016 that I had an abdominal desmoid tumour, another very rare disease that in some people with FAP happens as a result of trauma from surgery. This I’ve found is really hard to explain to people. It’s a tumour… but it’s benign. The immediate response is relief that it’s not cancer that can spread. Yet it is equally disruptive and locally invasive – in the space of 2 months my tumour tripled in size and began to compress my urethra – luckily I had stents put in before it could do damage to my kidneys. As a rare disease that’s not always considered a cancer, it’s hard to qualify for different types of drugs/chemotherapy and also hard to know what treatment will work as there are such limited results to base it off.

This is why research is so important and a welcomed theme for Rare Disease Day, to keep finding new drugs and treatment options for rare diseases. I will be faced with desmoid tumours recurring for the rest of my life, so I hope to have more options down the track.