Mum's plea for understanding about son's 'invisible' condition: 'If you could look inside you'd see his pain'

Picture: Merryn Hall with her twins Ashley and Matthew
Picture: Merryn Hall with her twins Ashley and Matthew 

Merryn Hall's mum instinct told her something was wrong with her son Matthew, now 10, when he was a baby.

Especially when she noticed a large 'spot' on his back, which doctors initially dismissed as a birthmark. When more began to appear, however, they too took notice.

When he was six-months-old, Merryn was told they were café-au-lait spots and her son had Neurofibromatosis (NF). A condition the mum, from rural Tasmania, had never heard of.

The rare condition affects roughly 2,500 Australians, or one baby born every three days. The genetic disorder can cause tumours to form in the brain, spinal cord and nerves. And cause chronic pain and related, debilitating health conditions.

An MRI revealed Matthew had a large plexiform neurofibroma (a benign tumour) on his spine and multiple neurofibromas throughout his body.

At first, her little boy, who has a twin sister Ashley, showed no symptoms and the family only had to monitor the tumours with twice-yearly MRIs.

Once he turned two, however, things changed and he very quickly struggled to keep up with Ashley.

"It really started to affect his daily life. Just the fact that he'd be happy running around and then his leg started to continuously give way all the time. He'd fall no matter what he was doing. We were always scared about walking up or down steps," Merryn told Essential Kids. 

"There was nothing the doctors could do, they didn't know why it was happening." 

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Told to continue to monitor Matthew with regular MRIs, they were also told to restrict his activities to reduce his pain levels, which rose in line with any physical exertion. Something that only became harder as he grew older. 

Often the worst of the pain would be delayed, and would hit come nighttime, when Merryn said he'd be left 'screaming in agony'.

"It was absolute heartbreaking to be honest, to tell your child 'no, you've got to stop running around' or can't play football. It was heartbreaking because he loves his sport," Merryn said.

Picture: Matthew, right with sister Ashley, brother Ben and dad Wessley

Picture: Matthew (right), with sister Ashley, brother Ben and dad Wessley

As a twin, it was also difficult knowing one could do something the other couldn't.

"It was always an argument between them, Matthew would say 'Ashley can do that, why can't I?'."

When he was eight, the family were told the plexiform neurofibroma was inoperable and Matthew was put on a drug, Trametinib, to try to shrink it. 

But Merryn says this turned him from 'a boy who would jump out of bed and be on the go' to just not getting up because he was 'too weak and sick'. It also caused infections, skin toxicity and 'really hit him hard'.

"Because of the infections we'd have to keep starting and stopping treatment, this went on a a year and-a-half."

Finally, the tumour was shown to have shrunk and Matthew was able to go on a lower dose of the drug, which Merryn says brought her happy son back.

"He's doing fantastic. It makes me so proud to be able to see him actually smile and laugh with his friends, because he was always siting on the bench, because he knew if he participated he'd suffer at night time."

Now Matthew is stable, Merryn says she wants to raise awareness of NF and to remind people that just because someone may have an 'invisible' condition, it doesn't mean they aren't struggling. 

"I just want to make people aware that people who have NF don't feel invisible, ad we can all support them," she says.

"The way we see it is, to look at Matthew you wouldn't know anything was wrong with him, he looks like a normal 10-year-old boy, but if you could look inside you'd see his pain." 

"What people don't understand is just because he looks healthy doesn't mean the disease hasn't affected him." 

May is NF Awareness Month, which aims to raise awareness and funds for the condition through a series of events organised through the Children's Tumour Foundation, including 'Make NF Shine', when a number of buildings and landmarks will be lit in blue and green on May 17. A dress in 'blue and green' day will also be held that day.