An Australian mum noticed her son had irregular pupils when he was just six months old. It turned out to be a sign of a rare genetic condition. 

Lynda Smith, from the Hunter Valley, had never heard of Neurofibromatosis type 1 (NF1) until her son Tom was diagnosed just before his second birthday. 

The now-10-year-old has blurred vision in his right eye which is enlarged due to a build-up of pressure from an unknown cause. 

A portion of his skull behind the eye which protects the brain is missing meaning a knock to the head could spell disaster. 

Lynda told FEMAIL Tom is an ‘amazing’ and ‘resilient’ ‘social butterfly’ who will have a chat with ‘anyone’ and sees himself as nothing but normal. 

However, the 54-year-old fears for his future as doctors don’t know how his NF1 will progress as he gets older. 

‘Even some of the brightest minds are just like, “we don’t know what to do with this” or “we don’t know what’s gonna happen”. 

‘They sort of scratch their heads and don’t really know what his future is… that’s been the challenging part, the unknown and the uncertainties.’

Lynda Smith (right), from the Hunter Valley, had never heard of Neurofibromatosis type 1 (NF1) until her son Tom (left), now 10, was diagnosed just before his second birthday

The first sign of NF1 Lynda noticed in Tom when he was six months old and his right pupil was larger than his left. Now his right eye has a large amount of swelling and pressure

When Tom was just six months old, Lynda noticed one of his pupils was much larger than his right.

‘His right pupil was not round and small like the other one, it was much larger and asymmetrical. It was like a blob or an obscure shape,’ the mum said. 

While there appeared to be no signs his vision was impeded, Lynda erred on the side of caution and took him to a doctor.

After tests and scans, he was eventually diagnosed with arrested congenital glaucoma, a potentially blinding condition characterised by increased pressure on the eye.

Tom had no other symptoms of NF1 however looking back, Lynda said she thinks his eye was causing him a great deal of pain. 

‘He used to scream like I’ve never heard anybody scream in the middle of the night and I could not console him. He would wake up five, six, seven, eight times a night every night up until he was four,’ the mum said. 

‘There was never anything wrong. He would call out every night over and over again and seemed distressed and I never really knew what it was.’

NF1 can cause some developmental issues and Lynda said when he went straight from ‘bum shuffling’ straight to walking but she didn’t think much of it. 

Looking back, Lynda said she thinks his eye was causing him pain: ‘He used to scream like I’ve never heard anybody scream in the middle of the night and I could not console him’ 

A year after his glaucoma diagnosis, Tom’s paediatrician noticed he had cafe au lait spots on his body. 

Cafe au lait marks are pigmented birthmarks which are harmless in the majority of cases but a very common sign of NF1. 

‘They look like you have spilt some coffee on yourself. Even though he has lots of them, they are very pale, some people have very dark ones,’ Lynda said. 

‘He has one big one on his side then there’d be over 20 or more. They vary from the size of an apple down to a match head.’

The doctor referred Tom for genetic testing but the specialists didn’t suspect NF1 based on his symptoms. 

Tom’s paediatrician noticed he had cafe au lait spots on his body. Cafe au lait marks are pigmented birthmarks which are harmless in the majority of cases but a common sign of NF1

Tom was finally tested just before he turned two and was diagnosed with NF1 which is a a genetic condition that causes tumours, often benign, to grow along your nerves.

‘I was shocked, I  didn’t even know what it was. there was no awareness of it. I had never heard of it. It was very scary,’ Lynda said. 

As Tom grew up, his condition was monitored and his eye and right side of his face became more and more enlarged. 

When he was six, he had to have emergency surgery to alleviate the pressure on his eye which provided some relief however he was wheeled into theatre again only months later.

‘The second (surgery) was a follow-up because the first wasn’t successful. They had to do another one and we have regular six monthly checks now for that pressure which goes up and down,’ Lynda explained. 

‘Luckily, we haven’t had to have a third one since then.’

Tom also has sphenoid wing dysplasia which affects five to ten per cent of NF1 sufferers and when the bone between the eye and the brain is missing. 

As Tom grew up, his condition was monitored and his eye became more enlarged (Tom pictured centre right with sister Rosie, now 16, Lynda, and brother Oliver, now 18

‘His right eye pulses from his brain which is very dangerous. If he was to get hit in the eye by a ball, there’s nothing protecting his brain behind that,’ Lynda said. 

The mum said besides his right eye Tom has no other physical ailments because of the NF1 but struggles with his coordination.  

‘He can see out of (his right eye) but it’s very blurred. The left eye compensates for everything so coordination is hard because it’s like closing one of your eyes and depth perception is different too,’ Lynda said.   

He’s delayed in a few things like he’s only just learned how to tie up his shoelaces. There’s also the team sports where he can’t catch a ball because he can’t see properly.’

However, Lynda said Tom hasn’t let his shortcomings affect his positive outlook on life and isn’t bothered when other kids ask him what’s ‘wrong’ with his face on the playground. 

‘He loves everybody so he’s a very affectionate child. He is a bundle of joy and will talk to anybody. He’ll talk to the person at the checkout counter, he would just chat to anybody. He has no fear,’ she said. 

What worries Lynda the most is the unpredictability of Tom’s condition but she said he hasn’t let his shortcomings affect his positive outlook on life

‘Kids come up going, “What’s wrong with you?” and I can see them staring at him. But he says, “I’m normal, I don’t see anything wrong with me”. He’s an amazingly resilient boy.’

What worries Lynda the most is the unpredictability of Tom’s condition and she’s been working with the team at Westmead Hospital in Sydney.  

‘Every time we go to an appointment sometimes there’s like six people sitting in the room from different parts of the hospital, wanting to study Tom’s case because it’s quite interesting in what symptoms he’s showing,’ she said. 

‘The simple answer with Tom is that nobody can tell me what his future is. That’s been the challenging part, the unknown and the uncertainties.’

Lynda is working with the Children’s Tumour Foundation to bring awareness to NF1 and raise money to provide much-needed research. 

Lats month, it was World Neurofibromatosis Day which saw more than 115 buildings across Australia light up blue and green to show solidarity for the 13,000 children and adults in Australia who live with the condition.