a defining moment

(this is a non-art post)

I've held off writing about this as I was waiting for the details to arrive in writing - it arrived last week but I've been so busy that tonight was my first chance to actually read the letter.

On 23 October I was told that confirmation has been received that I have a genetic defect that is directly linked to my four cancers. The technical term is I have a causative genetic change in the SDHC gene which cause tumours of the neuroendocrine system.

In English? This defect causes tumours, often in nerves, that are benign. When malignant, they are often paragangliomas or another kind. We know now that my 2000 kidney cancer was a paraganglioma - at the time it had not been seen and thus couldn't be identified. These are rare tumours. In even rarer circumstances, these tumours appear another way, and, in my case, having childhood and then an adult recurrence of GIST (gastro-intestinal stromal tumour) and thyroid cancer fits in with the defect.

The genetic test for SDHC has only been available for a few years (maybe 5?) and it's only through eliminating other issues, that the links between this defect and these cancers has been established. So it's fair to say there has been no genuine possibility of getting these answers any sooner than we have - 22 years of surgery, treatment, tests, check-ups and everything that comes with it. 

What does it mean for me? Well, in practical terms, not much. There is no way to change my genetic make up. There is nothing that can be done to stop this disease coming back again and again. Receiving the news about the genetic discovery didn't tell me that - it's something I've known for a long time and have become as adjusted to as is possible. The testing simply confirmed what doctors and myself have long believed probable.

What it does provide is an answer to WHY. Why do I get cancer? Why does this happen to me? Well, now I know. My parents know, my family and friends know. There are very few people who have cancer or many other diseases who get that answer - we know the what's and how's but rarely the WHY. I have that answer and that makes me incredibly lucky. It means I can provide information to my family and, potentially, save their lives or minimise any suffering they may have to endure. Isn't that the best possible outcome? For me, it absolutely is - not only have I been lucky - blessed - enough to know why (and know it's no-one's fault!) but I can help make my sister's life, my niece and nephews' lives a little better. And if the worst news come to them, they have the information about me on hand, and possibly save time and lives. That means everything to me.

I know they probably would never see or read this but I would like to acknowledge the incredible work of the Familial Cancer Centre at the Royal Melbourne Hospital for three years of tests and investigations that have given me this information, in particular Lara, Michael and Jessica. Your interest and persistence in finding some answers to my cancer riddle, especially after so many years, is deeply appreciated.