Dialog Box

Children's Tumour Foundation of Australia

Sam's Story

Sam's Story

My name is Sam

I’m 32 years old and I inherited NF1 from my mother. 

Growing up, I didn’t know what NF was or what the features were. It wasn’t until I was growing up when I began to realise that there were “little differences” about me. I started to notice more cafe’ au lait spots and had a plexiform growing on my back. When I asked my mother about these marks, I was always told that they were “birthmarks” and that I shouldn’t “worry”.

Looking at me with clothes on or when you first get to know me, you wouldn’t know that I have NF1. I look like any other 32-year-old male.

I had a perfectly normal childhood and still live a perfectly normal life now as a full-grown adult.

I was able to play sport, go to school, make friends, and even travel the world, not knowing much about my NF condition.

I always had confidence issues when it came to my body and exposing my skin, this included taking my shirt off, going swimming or being around others but that was as far as my concerns went.

Around the time I was 15, my sister (13) who also had NF started to complain about headaches and pains. She was in intense pain and couldn’t figure out why she had these headaches consistently. 

My parents decided to take my sister to the Royal Children’s Hospital where they conducted some scans and found that she had a brain tumour, this was the catalyst in putting the pieces together about our NF.

At the time, my family decided to try and get on top of our NF condition by booking in scans regularly to determine if we had other tumours growing or if there was anything of concern. As a 15-year-old I was still naive and once told “there was nothing there” I left it for some time, continues to live life as normal with NF doing whatever a normal adult would do.

In 2020, my plexiform had started to become more sensitive and bothersome.

Anything hitting my mark such as a friendly slap on the back was excruciating pain shooting through my body.

My partner and I feeling concerned went to the Royal Melbourne hospital to get more information on NF and to be on top of the diagnoses. 

I am excited to be connected with an NF specialist (Prof. Kate Drummond) who I will be in yearly consultations with to stay on top of my NF. I have also been referred for trial medication which could possibly assist with my plexiform’s growth.

This gives me some hope that our medical researchers are finally finding breakthroughs with Neurofibromatosis.

We are now at the time of our lives when we are thinking of having children of our own.

We are currently at the very beginning the IVF process to ensure we can eliminate NF for our future generations.

I want to bring NF out of the shadows as you should not be embarrassed or unaware of your diagnosis. People living with NF should be educated and empowered to deal with it. I want to raise awareness and hopefully play my part in finding a cure for NF for myself and our future generations.