Baby’s “freckles” lead to the tragic diagnosis of neurofibromatosis type 1 (NF1)

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

But at the four-month check-up, a nurse feared this might be a sign of something worse, and the little one was diagnosed with neurofibromatosis, a rare disease that can cause tumors and blindness.

What is neurofibromatosis?

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

Neurofibromatosis is a rare genetic disorder that causes non-cancerous tumors to form in nerve tissue throughout the nervous system, including the brain and spinal cord.

The condition also causes dark spots called café au lait spots, which were the telltale sign that led to Ruby's diagnosis.

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

The healthcare worker was stunned and recommended that Ruby see a general practitioner immediately.

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

“I was a little worried because we thought they were just moles,” Ms Galloway said.

“She had two on her face and two on her chest and there were more freckles scattered everywhere.”

Developmental delays indicate a rare disorder

Specialists found that Ruby's head was slightly larger than normal, which was another indication of the condition.

Her parents also noticed some developmental delays in Ruby. She didn't crawl until she was one year old and couldn't walk until she was 15 months old.

A magnetic resonance imaging (MRI) scan revealed that Ruby's optic nerve had gradually thickened since the age of two, and doctors feared she would lose her vision.

In February of this year, a magnetic resonance imaging (MRI) scan revealed that Ruby's condition had worsened, so she began chemotherapy in April.

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

“She was sitting happily next to me, playing. It was hard to believe she was having chemotherapy as she seemed to be doing well.

“It was a huge shock when we found out she would need chemotherapy – it was like the air had been taken out of my lungs.

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

“Mom, I am beautiful”

The young woman has already been undergoing her 19-month weekly chemotherapy for several weeks, as she is at risk of going blind. The aggressive treatment has already caused Ruby's hair to fall out.

“She had such beautiful hair, but I asked her, 'Should we cut it?' and she said 'yes' and got the clippers,” her mother recalled.

“It took me a while to even turn her on, but she was fine. When it was over, she looked in the mirror and said, 'Mommy, I'm beautiful.'”

“The second Ruby said that, I was happy.”

-MEGA

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