Dialog Box

Children's Tumour Foundation of Australia

Steven's Story

Steven's Story

My story isn’t unlike anyone else’s who has NF. I was diagnosed with NF1 at 6 years of age when an ED doctor mentioned to my parents the cafe au lait marks on my body could be a sign of Neurofibromatosis. After genetic testing this was confirmed, and I am the only person in my family to have NF.

I know my parents went through a lifetime of uncertainty not knowing if I would thrive and live a normal life. To be honest I have lived what I have considered a normal life until recently.As a teenager, I had my first surgery to treat Hydrocephalus (a build-up of fluid on my brain). I have had multiple shunt revisions,  with the last time being almost 7 years ago. 

I also had a hospitalisation where I was misdiagnosed as having lymphoma, if only the doctor waited until the CT scan had been reported on and took the time to research NF before telling me. Turns out what he had seen in the images was NF!

When I got married, it opened up another chapter that I had to consider. Children! Did I want them? Did I want to pass on NF? We were referred to The Genetic Counselling Team at King Edward Memorial Hospital (ironically where I was born and spent the first 7 weeks of my life). This was a great service and we wished we had found it sooner, but our GP at the time did not know what support there was around for us. We have found with NF that sadly despite how ‘common’ the condition is, there are not a lot of Doctors that know about it.

Last year (2023) I was having a lot of nerve pain in my lower leg & foot. I thought it was related to my NF (as I had a Plexiform on the soul of my foot). I had an MRI of my foot and decided to get the plexiform removed. Sadly, this didn't stop the pain. I went back to the doctor as the pain continued at times and would stop me in my tracks. This was brushed off as ‘normal nerve pain’ and I was prescribed tablets. This didn’t sit well with me, so I visited my normal GP who referred me back to my Neurologist.

After a 3 month wait, I saw my neurologist, who completed a full neurological examination which all seemed ok but requested an MRI of my foot and ankle.

On the day of the scan, I went in expecting it to be the same as the numerous previous scans I've had in my lifetime. I didn't expect that this scan would throw my life up in the air and cause so much uncertainty.

I received a phone call from my neurologist within a couple of hours of having the MRI scan, saying that our planned overseas trip the following week had to be canceled as the scan indicated that I had a substantially sized (suspected Sarcoma) tumour in the tibial nerve of my left leg.  

Within a week I had an appointment with the Sarcoma Team at SCGH, had multiple more MRI’s and a biopsy. It was confirmed to be a large (9cmx5cm) malignant peripheral nerve sheath tumour (Sarcoma). 

Thankfully it was isolated to the nerve of the leg and there were no other areas (in the body) of concern.

The only treatment required was surgical at this stage, with radiotherapy and chemotherapy thankfully not needed.

I was presented with a couple of surgery options, keeping the leg, which would require removing the nerve & what they could of the tumour (to maintain blood flow to the leg). The Second and preferred option was a below-the-knee amputation. 

Keeping the lower leg and foot would also not be without huge risks, including having no feeling in my lower leg as well as no actual control of the muscles in the foot. Cancer tissue would have to be left behind & future surgeries and infections would be very likely. 

A below-the-knee amputation presented a very predictable surgical outcome with all cancer tissue to be removed. This was by no means an easy option, as amputation would change my life as I know it. 

I made the very informed decision that I wanted to have a below-the-knee amputation. A leg and foot without feeling and knowing that there was still cancer tissue was not an option I wanted to live with. 

Fast forward to today, almost a year to when I received the phone call saying I have cancer, I have achieved a whole lot, thanks to my amazing wife, friends, and team of medical professionals. 

I am walking and wearing my prosthetic, still working full time, attending events and pushing the boundaries! 

NF has taught me a lot of things and more recently I have decided that I need to push myself, I cannot sit around feeling sorry for myself. I am alive, I live a great life and have so much to be thankful for.

This year my wife asked me if I would like to take part in the HBF Run for a Reason. Without hesitation, I said yes. I am not an athlete but thought if I have ever had a reason to participate in an event, now is the time.

I am participating in the 4km walk to represent that despite what life throws at me I will grab it with both hands and excel. And to represent the people with amputations and finally to support the CTF and people living with NF. 

I wish the CTF had been around when I was initially diagnosed. It would have given my parents a lot more hope and a support network that they very much needed. We can’t continue to live in the shadows of NF, we need to radiate blue and green and educate the world around us.