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'It hit me like a ton of bricks': How baby's 'freckles' led to tragic diagnosis

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Tuesday, July 23, 2019

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When little Ruby Galloway was born with little dark marks on her cheeks, head and chest, her parents Katie, 30, and Tom, 31, thought they were just freckles or birthmarks.

But at her four-month check-up, a nurse feared they might be a sign of something more sinister, and the tot was diagnosed with neurofibromatosis, a rare condition that can cause tumours and blindness.

What is neurofibromatosis? 

Now four-year-old Ruby, from the UK town of Plympton, Devon, is undergoing chemotherapy after being diagnosed with neurofibromatosis type 1 (NF1).

Neurofibromatosis is a rare genetic disorder which causes non-cancerous tumours to form on nerve tissue anywhere in the nervous system, including the brain and spinal cord.

The condition also causes dark marks, called cafe au lait spots, which was the telltale sign that led to Ruby’s diagnosis.

During her routine check-up, her mother asked the nurse to take a look at her “freckles”.

The healthcare worker was stunned and recommended Ruby see a GP immediately.

The GP arranged for Ruby to meet with a geneticist at Derriford Hospital, Plymouth, a week later.

"I was a bit worried because we’d thought it was just birthmarks,” Ms Galloway said.

"She had two on her face and two on her chest, and other freckles dotted around."

Development delays indicate rare disorder

Specialists realised the size of Ruby’s head was slightly larger than normal, which was another indicator of the condition.

Her parents also noticed Ruby had some developmental delays. She did not crawl until she was one, or walk until she was 15-months-old.

An MRI scan revealed Ruby’s optic nerve had started to gradually thicken from the age of two, and doctors feared she would lose her vision.

By February this year, an MRI found Ruby’s condition had deteriorated, so she began chemo in April.

“It hit me like a ton of bricks,” Ms Galloway said.

"She was sat next to me playing happily and it was hard to believe she’d be having chemo when she seemed fine.

“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.

"But it makes it easier when Ruby is so calm and positive.”

‘Mummy, I am beautiful’

At risk of going blind, the youngster is weeks into her 19-month course of weekly chemo. The aggressive treatment has already caused Ruby’s hair to begin falling out.

"She had such beautiful hair, but I asked her ‘shall we cut it?’ and she said ‘yes’ and fetched the clippers,” her mother recalled.

“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.”

Source: Yahoo News
3.0 from 1 vote
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