Our Stories
There are lots of stories from the people in our NF community. Their journeys, their challenges, their wins, and everything in between. By sharing in their own words, they help shine a light on what it’s really like to live with NF, while reminding us that no one has to face it alone.
DELYS' STORY
Delys is one of NFAWA's vibrant community members. She is 81 years old and living with NF1.
​
Delys showed no signs of having Neurofibromatosis in her youth and was only diagnosed in her mid-thirties. Delys expresses a lack of knowledge about NF when she was growing up, mentioning that her doctor only explained NF as a genetic condition with no cure. She acknowledges that our community is in a much better position to access support and diagnosis nowadays. Delys is an active member of our community, attending monthly meetings and having regular coffee catch ups with other ladies in the committee.
JESS AND CADEAU'S STORY
My son was first diagnosed with Neurofibromatosis (NF) the day after his first birthday by his genetic counselor/specialist. He took one look at him and said, "Yes, he has NF." We were only in the room for 30 seconds.
Before this, I already knew in my heart. As his mum, someone who also has NF, I could tell just by looking at him. He had more than six café-au-lait birthmarks, and it was clear to me. But his first pediatrician refused to diagnose him. Her exact words were: "There’s no point diagnosing him until something more significant shows up or he starts having issues."​
I was devastated. I knew how important early intervention is. I asked to be transferred to the children’s hospital and I made it clear I never want to see that doctor again. Getting a formal diagnosis brought both relief and a wave of guilt and fear, knowing I passed this gene on to him. But I also know he’s in the best care possible. In his almost 21 months of life, he’s had multiple appointments at Perth Children’s Hospital, is supported by the IBIS program at Ability WA, and already has his NDIS plan in place. Fighting for his diagnosis meant fighting for his future. It meant access to support, early intervention therapy, and support from medical professionals. Never stop fighting for your babies. Early intervention matters. Your voice matters. Their voice matters.
MAREKA'S STORY
I was 6mths old when I was diagnosed with NF. My mother had always been told, "That’s how god made you." It wasn’t until she was 20, planning a trip with my dad, that a doctor asked: "I hope you aren’t planning on have kids." When she asked why, the doctor replied "Because you have NF."
​
My experience with NF has always been terrible. At school, I was always at the bottom of my class. I was never good at sports— I still can’t catch a ball— and I have terrible memory. In my early 20's, I was also diagnosed with epilepsy.
​
I also had a very bad language development problem. I was ok in pre primary where the teachers put up with me then because I was a December baby and the youngest in class. However, the school I was attending didn’t want me to start year 1 and was forcing me to repeat pre primary there. My grandma and mum wasn't letting that happen and wrote letters to everyone they knew. All their hard work paid off and I attended a school with about 8 other kids with language problems. We then got kicked out of that school thanks to the P&C, who in the early 80s thought we were going to give our language problems to their own children. The little school grew the next year and we moved to a school in Palmyra.
​
They could see a little lump in my brain but whether it is NF or epilepsy related is still unconfirmed. The most they can do is take MRI scans but as it sits in a part of my brain that could cause a stroke, they left it alone. As a result I am currently taking 3 medications for controlling my epilepsy. Which is still not controlled having about 2 fits a month.
​
My epilepsy was controllable when I was pregnant with my kids but as soon as my son turned 1 they came back. That has been 18yrs now. I have been through all the new medication for epilepsy and different doses.
The specialist I was seeing didn’t know if my epilepsy was related to my hormones or NF.
My daughter— very much like me— was born lovely with not a single mark on her. One day, I went to wash her and I could see the birth marks on her skin. I never got her formally tested as I know the long waitlists, and at that time we were living in Rockingham.One day we were in the emergency department and they did offer to test my daughter. I said no, knowing already that she has NF. They offered to test my son too but I refused as he was only around 4mths old. I always mentioned there is a family history on my side.
​
Genetics counselling was horrible. My husband wanted more info so we went there. They talked about babies with big heads and deformed hands. I was thinking "missing fingers or stumps for hands?" Years later I learnt that they were referring to our 'stumpy' fingers.
​
My daughter, who also has ADHD had trouble at school. She was always the bottom of her class and was never good at sports. Much like myself, she was also covered in freckles in the groin and armpits. After yr 11 she was sick of school and the social struggles so she studied full time at TAFE training in kitchen operations.
HELEN'S STORY
"Employers should be made aware of NF because there are people out there struggling to cope in their job"
Helen was diagnosed with NF at 4 years old after experiencing a grand mal seizure and being rushed to hospital. Her parents had never heard of NF and no one in her family had the condition - Helen later learned that her NF was caused by a spontaneous mutation. There wasn't much information about NF at the time, which made her family frustrated. They were told that it was rare and not many people had it, but there was a girl just a few years younger than Helen at school who also had NF, and together, their parents helped each other out.
​
In school, Helen dealt with teasing and struggled with reading. She was later diagnosed with dyscalculia, which affects the ability to learn math-related tasks.
This challenge continues in her work and adult life - making it difficult when dealing with numbers and money. The lack of support at previous jobs also meant she was at a disadvantage when it came to getting the hang of changes like new technology. She wishes employers were more understanding of how NF can impact work-based tasks. Ever since she found out about NF support groups in 1993, Helen has regularly attended meetings, finding comfort in a community that comes together to share their experiences.