I’ve had skin cancer twice and two brain tumours and I’m 18 – I live in fear of dying sooner than a normal person
Roughly one in 4,000 people have Ruby-Jo's condition - scroll down to find out more about it
A TEEN who’s been diagnosed with melanoma twice and had two brain tumours removed, all before the age of 18, has a rare genetic disorder that’s been passed down through her family.
Ruby-Jo Sneed, 18, discovered she had a rare genetic chromosome deletion after undergoing genetic testing aged 12 due to her family’s history of tumours.
She has chromosome deletion of her CDKN2A gene – which is responsible for producing proteins that act as tumour suppressors – making her more at risk of developing tumours and melanoma.
Over the course of just over two years – from the age of 15 to 18 – Ruby-Jo was diagnosed with melanoma twice and had two non-cancerous brain tumours removed, something she described as a “massive shock.”
She had the second removed recently in December 2024.
Ruby-Jo, a college student, from Hull, said: “I was around 12 years old when I found out I had it.
“At the time I think I had a positive outlook on it, I was excited I could have the day off school sometimes!
“I was quite thrilled to feel special in a way and I didn’t think of the dangers of it at that age.
“But when it actually affected me with the skin cancer and brain tumour it was a massive shock.
“I remember just crying my eyes out, questioning why me?”
The family have traced the mutation back to Ruby-Jo’s grandma who had skin cancer.
Her auntie was then diagnosed with a non-cancerous brain tumour at the age of six in 1981.
Ruby-Jo’s auntie’s son was also diagnosed with a brain tumour aged six and later went on to develop skin cancer before passing away aged just 14 from leukaemia.
And when Ruby-Jo’s brother, Bailey, now 14, was also diagnosed with a benign brain tumour again at the age of six, doctors were sure it was genetic due to the family history.
After establishing that her mum, Laura, 36, had it too, Ruby-Jo had genetic testing when she was 12 and were told that Baily and Ruby-Jo had inherited it out of her and her two sisters.
Ruby-Jo will need skin checks for moles and regular MRI scans every three to six months for the rest of her life.
Her first diagnosis was a brain tumour in September 2022 and she was diagnosed with skin cancer just a month later.
Ruby-Jo said: “When I was 15 there was a melanoma burn and that was removed on 3rd July 2022 just before year 11 and the strange thing about that is that the biopsy should have taken six to eight weeks but it took 13 weeks so we all thought no news is good news but on October 12, 2022 we were told that it was skin cancer.
I had the tumour removed and it was a horrible experience – I was 16 and I’d had a really nice time at prom and suddenly it was scary and traumatising
Ruby-Jo Sneed
“At the same time, I had an MRI and I was diagnosed with a brain tumour in September, just a month before.
“I’d just started year 11 and all I wanted to be focused on was my studies.”
Doctors wanted to see how the tumour would progress, before Ruby-Jo eventually had it removed in July 2023 after it had continued to grow.
She said: “I had the tumour removed and it was a horrible experience – I was 16 and I’d had a really nice time at prom and suddenly it was scary and traumatising.
“But they were able to remove it all and they tested the tumour and it wasn’t what they thought it was – it was a grade two PXA non-cancerous so I never needed any further treatment.”
More skin cancer and another brain tumour
Ruby-Jo began planning for her college studies but had to go back into hospital in April 2024 to have a mole checked.
She had it removed the same month and discovered it was melanoma shortly after.
She said: “They had to remove further tissue from my arm to make sure there was no cancer there.
“On the same day, I was told that my brother had also been diagnosed with stage 1 melanoma skin cancer and was waiting for surgery.”
At an MRI check up in April 2024 doctors also found another brain tumour and Ruby-Jo underwent an operation in December to have it removed.
She said: “I got results in May and I was told I’d been diagnosed with another brain tumour but this time it was in the memory part of my brain which was scarier – thankfully that meant it was very easy to remove.
It can be hard to think about the future knowing it could return
Ruby-Jo Sneed
“Memory is a huge part of your life so we initially looked into radiotherapy as I didn’t want any scary after effects of the surgery but I thought I’ve been through it once, I can do it again.
“They actually then said because I had this chromosome deletion it wouldn’t be possible for me to have the radiotherapy and there would be a higher risk of me developing more brain tumours.
“They gave it some time to see how it would progress and again it had grown so in December it was removed.
“It was a PXA tumour again.”
Ruby-Jo raised over £800 for through bake sales, but has admitted that it can be “hard to think about the future knowing it could return.”
But she does hope to one day write a book about her rare genetic disorder.
She said: “All within two years – it’s hard to think about the future and because it’s happened for a second time already, it could happen a third and fourth time.
“I have suffered more than anything, it’s been my dream to write a book about my life.
“I’ve known since the age of 12 that I’d be at risk of getting skin cancer and brain tumours and I had to live with the fear every day that I might die sooner than a normal person.”
What is a chromosome deletion?
A CHROMOSOME deletion is a type of mutation that occurs when a section of a chromosome is lost.
Symptoms of chromosomal deletion syndromes vary depending on the chromosome that is deleted and the genes affected.
Symptoms can include developmental delays, intellectual disability, and physical abnormalities.
People with certain chromosome deletions may also have an increased risk of developing certain types of cancer.
Anyone can be at risk of a chromosomal deletion, as these events often occur randomly during the formation of sperm or egg cells (meiosis).
But individuals with a family history of a specific chromosomal deletion are at a higher risk of passing it on to their children, meaning their offspring would be at increased risk of inheriting the deletion.