My first tumour was discovered when I was just 13 years old. I was very scared. We were living in a small town in the UK and I had a lump appear by my eye that became quite painful. The first doctor told my Mum to ignore it and said I was just imagining it. But she insisted on getting a referral and I ended up at a cancer clinic. It took three years before I was seen by the right specialist and was sent for surgery in London
After my first surgery I was told the tumour would never grow back, it took another five surgeries and 14 years to get a diagnosis.
I have Schwannomatosis (segmental, with elements of NF2). This is why I want to share my story, as after years of being passed from one doctor to another, being told I was imagining it and having to explain what the condition is to every new doctor, I really want to help spread the word to help other people navigate the system.
I had to complete all my own research to determine which doctor I should see, so if I can help even one person on their journey, it will be worth it.
When a condition is not well known and presents in a different way in each person who has it, connecting with other people who are also living with condition is important. I know that in my teens and 20s I really could have benefitted from being able to share experiences with someone who understood what I was going through. I felt very isolated.
At university I studied music and dance, but at the end of my course I had major surgery which made me completely change my direction. I became more interested in social issues, well-being and people’s day to day lives, so I decided I wanted to work in documentary film making. I am now a TV and film producer.
I came to Australia 10 years ago, but in the UK I had worked on a series about families who packed up their bags and travelled the world with their children. It inspired me to try something new. I became a citizen in 2017, which was also when I had my son, Koa.
Being pregnant with Koa felt a bit like receiving my diagnosis all over again, it suddenly felt like my future was completely unknown.
I spent a lot of time at the genetics clinic, but it wasn’t easy for them to check anything, as my condition was so rare. They were never sure exactly what they were looking for.
When Koa was born they came to see if he had any signs of NF but he didn’t, so for now it’s a waiting game unless they find a new gene and are able to test him. My condition is the result of a spontaneous mutation, but there is a chance that if I do pass Schwannomatosis onto Koa, his version would be hereditary. There is also a chance he may have nothing at all, we just take each day as it comes.
A lot of my friends say I am very calm, even in a crisis, and I think that's because I don't let things overwhelm me. Of course, that’s not to say I don't have my moments, but I try to approach everything methodically. What can I do today, this month, next year? This means when I reach each goal, no matter how small, I can find my own success.
When I was younger I worried a lot more, but I’m now much more accepting of things. I used to feel self-conscious and insecure. I didn't want anyone to know I had something 'wrong' with me and it affected my confidence.
As I hit my 20s I thought that if people knew I had to have regular surgeries and hospital appointments it would stop me getting a job or finding a partner. I thought it would change what people thought I was capable of. I hid my diagnosis and never talked about it, or when I did I made it sound like it was nothing at all. It’s only in recent years that I’ve stopped caring about how people see me and now I care more about finding a cure.
I’ve had a lot of surgeries over the years, my most recent one was in February for a tumour behind my nose. I was supposed to have it two years ago, but I’m a single parent, so I’d been putting it off because it felt like the time out of action would make it impossible. But the tumour was growing and after so many surgeries on my face, my nose was collapsing. I’d had a temporary fix 15 years ago and they had taken a piece of my ear and put it into my nose, but it had stopped holding things together, so I couldn’t put it off any longer.
It was a six-hour surgery and involved completely rebuilding my nose.
I’m surrounded by great friends and they have helped me throughout the whole process. They’ve cared for me and Koa and even created a fundraising page to help cover the costs of the surgery and to enable the collection of samples for further genetic testing and research.
My tumours have all been in my head, and they have caused bad headaches and shooting pains that can really stop you in your tracks. But in a way, I’m lucky. I’ve now had whole nerves taken out of the left-hand side of my face, so I have no feeling or movement left there, but the plus side of this is that I can be pain free for long periods. I have also recovered well from the recent surgery.
None of this has ever stopped me doing what I want to do, if anything, it’s pushed me to do more and become more resilient. My poor mum has been through the ringer with my health, but she has always fought to find the best care for me and never taken “no” as an answer.
My Schwannomatosis was not inherited and I’m currently working with the Genomics team St Vincent’s Hospital to try and identify the gene that caused it. Hopefully this will provide more treatment opportunities and understanding for future generations.