Mother-of-two reveals her daughter, four, was diagnosed with a rare tumour-causing disease thanks to her ‘FRECKLES’ – after discovering they’re a sign of the condition
- Ruby Galloway, four, was diagnosed with Neurofibromatosis type one as a baby
- Health visitor told parents, Katie and Tom, from Devon, to go and see the GP
- Condition causes benign tumours to grow along nerves and dark marks on skin
- She has to undergo chemo in order to keep a tumour from pressing optic nerve
A baby has been diagnosed with a rare tumour-causing disease – and it’s all thanks to her ‘freckles’.
Ruby Galloway, four, was born with little dark marks on her cheeks, head and chest, and parents Katie, 30, and dad Tom, 31, from Devon, thought they were just freckles or birthmarks.
But when she was four-months-old, a health visitor said she thought they might be a sign of something more sinister, and eventually the tot was diagnosed with a rare condition.
She has neurofibromatosis type 1 (NF1) – a rare disorder which causes tumours to grow along the nerves, and also causes dark marks, called cafe au lait spots.
Ruby Galloway, four, from Devon (pictured) was diagnosed with a rare condition called neurofibromatosis type one when she was only 19-months-old
Ruby was diagnosed early thanks to the ‘freckles’ on her cheeks and chest, which are called ‘cafe au lait’ marks and are a sign of the condition
It caused non-cancerous tumours to grow on Ruby’s optic nerve – that carries vision from the eyes to the brain – and she was at risk of going blind.
The brave youngster started 19 months of weekly chemo in April and a few weeks later bravely allowed her mum to shave off her hair, after it started to fall out.
The family, are kept strong by inspirational Ruby who admired her new hair do in the mirror and told Katie: ‘Mummy I’m beautiful.’
‘I was a bit worried because we’d thought it was just birthmarks,’ said Katie, who is Ruby’s carer. ‘She had two on her face and two on her chest, and other freckles dotted around.’
Katie and husband of five years Tom, a self-employed courier, weren’t initially concerned by the marks on Ruby’s skin when she was born in March 2015.
But when a health visitor came for a routine check-up when the tot was four months old, Katie asked her to take a look.
She was stunned when she recommended they go to the GP that same day, who said it could be a sign of neurofibromatosis – a genetic disorder which causes tumours to form on nerve tissue anywhere in the nervous system, including the brain and spinal cord.
Ruby had to undergo chemotherapy after it was revealed a tumour caused by her condition was putting pressure on her optic nerve. Her mother Katie, 30, had to shave her head (pictured)
Ruby with her family, from left to right: brother TJ, father Tom, 30 and mother Katie, who is the little girl’s full-time carer
The tumours caused by neurofibromatosis are usually benign but can apply pressure on some nerves and require treatment. Pictured: Katie in hospital at the beginning of her chemotherapy
The family said they were inspired by the little girl’s spirit and courage. Pictured, Tom visiting Ruby in hospital
The GP arranged for Ruby to meet with a geneticist at Derriford Hospital, Plymouth, Devon, a week later.
‘It was really overwhelming,’ said Katie. ‘There just wasn’t much information given to us, so we had a look online – which is always the worst thing you can do.
‘We tried not to read too much as it was so worrying and Ruby seemed fine.’
The geneticist explained the marks were actually café au lait spots – which are associated with NF1.
Childhood Tumour Trust Charity explained the NF1 gene can result in an increase of melanin, which can result in cafe au lait marks.
Ruby started rounds of chemo in April 2019 after it was found the pressure from the tumour on her eye had become even worse. Picture, the young girl sleeping in hospital
They also measured the circumference of Ruby’s head, which although wasn’t noticeable to the eye, was larger than normal – another indicator.
She went for more blood and eye tests, but still didn’t have an official diagnosis until doctors noticed she also had some developmental delays.
She did not crawl until she was one or walk until she was 15-months-old – and she had regular check ups.
An MRI scan revealed Ruby’s optic nerve had started to gradually thicken from the age of two, and doctor’s worried she would lose her vision.
By February 2019, an MRI found it had got worse again, and in April the family were called in to hospital.
What is Neurofibromatosis type 1?
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms
Neurofibromatosis type 2 is treated separately than type 1, as it’s much less common and has different symptoms and causes
NF1 is a condition you’re born with, although some symptoms develop gradually over many years. The severity of the condition can vary considerably from person to person.
Symptoms can include:
- pale, coffee-coloured patches (café au lait spots)
- soft, non-cancerous tumours on or under the skin (neurofibromas)
- clusters of freckles in unusual places – such as the armpits, groin and under the breast
- problems with the bones, eyes and nervous system
NF1 is caused by a faulty gene. If the NF1 gene is faulty, it leads to uncontrolled growth (tumours) developing in the nervous system.
In half of all cases of NF1, the faulty gene is passed from a parent to their child, either the mother or the father.
Treatment for the condition can include:
- surgery – to remove tumours and improve bone abnormalities
- medication – to control secondary conditions, such as high blood pressure
- psychological support
- pain management
‘We thought it was just a check-up but the doctors said they had been in talks with Bristol Royal Hospital for Children and that, to prevent it from growing, Ruby would have to start chemotherapy,’ said Katie.
‘It hit me like a ton of bricks. She was sat next to me playing happily and it was hard to believe she’d be having chemo when she seemed fine.’
‘The team were really great and supportive. We met the nurses that would be looking after Ruby right away.’
Days later she started her first round of chemo and she now visits every week for the treatment via a Hickman line – a central venous catheter for medicine.
‘We were worried she’d struggle with the Hickman line and just with sitting still for the hour, but she was amazing,’ explained Katie.
‘She sat patiently and did some colouring, then as soon as they unplugged her she just got up and started playing. I couldn’t believe it.
‘I knew I had to be strong but it was a really emotional day. She’s such a character. You can always hear Ruby before you see her, she’s so infectious and lovable.’
Ruby (pictured) looking at her bald head after her mother Kate shaved her head. The young girl said she was beautiful without her hair
‘She loves the nurses that do her chemo. She’s always giving them cuddles and making them laugh.’
Ruby showed just how strong a spirit she has when she lost her hair in May.
‘I was very hesitant, it was another hard reality to face,’ explained Katie. ‘She had such beautiful hair, but I asked her “shall we cut it?” and she said yes and fetched the clippers.
‘It took me a while to even turn them on, but she was totally fine. Once it was done she looked in the mirror and said: “Mummy I’m beautiful.” The second Ruby said that, I was happy.’
She has recently been fitted with a feeding tube after losing weight – up to 3lb a week – and she has 16 months left of chemotherapy.
Ruby (pictured) goes to her chemo appointment an hour every week. She has 16 months left of chemo-therapy
‘It was a massive shock when we found out she’d need chemo – it was like I’d had the wind knocked out of me,” she said. ‘But it makes it easier when Ruby is so calm and positive.’
Katie, who gave up work as a housekeeper to be her daughter’s full-time carer in December, has a son TJ, 12, who dotes on his sister and is part of the Young Carers of Plymouth network.
Childhood Tumour Trust Charity is campaigning for a body map to be included in the Child Development ‘Red’ Book so any marks seen on a baby or young child can be documented.
The majority of those who have six or more coffee coloured marks on their skin which are larger than 0.5cm will have NF1.
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