An Australian mother 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 with the disease just before his second birthday.
The now 10-year-old boy 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 his eye that protects his brain is missing, meaning a blow to the head could spell disaster.
Lynda told FEMAIL that Tom is an “amazing” and “resilient” “social butterfly” who chats to “anyone” and sees himself as nothing more than normal.
However, the 54-year-old fears for his future as doctors do not know how his NF1 will progress as he ages.
“Even some of the brightest minds say, ‘We don’t know what to do with this,’ or ‘We don’t know what’s going to happen.’
“They scratch their heads and don’t really know what their future is… that’s been the challenging part, the unknown and the uncertainties.”
Lynda Smith (right), from Hunter Valley, had never heard of neurofibromatosis type 1 (NF1) until her son Tom (left), now 10, was diagnosed just before his second birthday.
Lynda noticed the first sign of NF1 in Tom when he was six months old and his right pupil was larger than his left. Now his right eye has a lot of swelling and pressure.
When Tom was just six months old, Lynda noticed that one of his pupils was much larger than the right one.
‘His right pupil was not round and small like the other, it was much larger and asymmetrical. “It was like a mass or a dark shape,” the mother said.
Although there seemed to be no signs that his vision was affected, Lynda erred on the side of caution and took him to a doctor.
After tests and scans, she was eventually diagnosed with arrested congenital glaucoma, a potentially blinding condition characterized by increased pressure in the eye.
Tom had no other symptoms of NF1; However, looking back, Lynda said she believes her eye was causing her a lot of pain.
“He would scream like I’d never heard anyone scream in the middle of the night and I couldn’t console him. He would wake up five, six, seven, eight times a night every night until he was four,” the mother said.
‘There was never anything wrong. He would call me every night over and over again and he would seem distressed and I never really knew what it was.’
NF1 can cause some developmental issues and Lynda said when he went straight from crawling on his bottom to walking, she didn’t think much of it.
Looking back, Lynda said she believes her eye was causing her pain: “He used to scream like I’d never heard anyone scream in the middle of the night and I couldn’t console him.”
A year after his glaucoma diagnosis, Tom’s pediatrician noticed he had café-au-lait-colored spots on his body.
Café au lait marks are pigmented birthmarks that are harmless in most cases, but are a very common sign of NF1.
“They look like you’ve spilled coffee on them. Even though she has a lot of them, they’re very pale; some people have very dark ones,” Lynda said.
“It has a big one on the side and then there are more than 20. They range from the size of an apple to the size of a match head.”
Tom’s doctor referred him for genetic testing, but the specialists didn’t suspect NF1 based on his symptoms.
Tom’s pediatrician noticed that he had café-au-lait spots on his body. Café au lait spots are pigmented birthmarks that are harmless in most cases, but they are a common sign of NF1.
Tom was finally tested just before his second birthday and was diagnosed with NF1, which is a genetic condition that causes tumors, often benign, to grow along nerves.
“I was shocked, I didn’t even know what it was. There was no one who knew. I had never heard of it. It was very scary,” Lynda said.
As Tom grew, his condition was monitored and his eye and the right side of his face became increasingly larger.
When he was six years old, he had to undergo emergency surgery to relieve pressure in his eye, which gave him some relief; However, months later they took him back to the operating room.
‘The second (surgery) was a follow-up because the first one was not successful. They had to do another one and now we have regular check-ups every six months to detect that pressure that goes up and down,’ Lynda explained.
“Luckily, we haven’t had to do a third one since.”
Tom also has sphenoid wing dysplasia, which affects five to ten percent of NF1 patients and occurs when the bone between the eye and the brain is missing.
As Tom grew older, his condition was monitored and his eye became larger (Tom pictured centre right with his sister Rosie, now 16, Lynda and brother Oliver, now 18).
‘His right eye pulses from his brain, which is very dangerous. If a ball were to hit her in the eye, there is nothing to protect her brain behind that,” Lynda said.
The mother said that apart from his right eye, Tom has no other physical ailments due to NF1, but he does have problems with his coordination.
‘He can see out of (his right eye) but it’s very blurry. The left eye compensates for everything, so coordination is difficult because it’s like closing one of his eyes and the depth perception is also different,’ Lynda said.
He has fallen behind in some things, like he has barely learned to tie his shoelaces. There are also team sports where he can’t catch the ball because he can’t see well.’
However, Lynda said Tom hasn’t let his flaws 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 everyone, so he’s a very affectionate little boy. He’s a bundle of joy and he’ll talk to anybody. He’ll talk to the person in the box, he’ll just chat to anybody. He’s not afraid,’ she said.
What worries Lynda most is the unpredictability of Tom’s condition, but she said he hasn’t let his flaws affect his positive outlook on life.
‘The children come up and ask: “What’s wrong with you?” and I can see them looking at it. But he says: “I’m normal, I don’t see anything wrong with me.” ‘He’s an incredibly resilient boy.’
Lynda is most concerned about the unpredictability of Tom’s condition and has been working with the team at Westmead Hospital in Sydney.
“Every time we go to an appointment, sometimes there are like six people sitting in the room, from different parts of the hospital, wanting to study Tom’s case because it’s quite interesting to see the symptoms he shows,” he said.
“The simple answer for Tom is that no one can tell me what his future holds. That’s been the hard part, the unknown and the uncertainties.”
Lynda is working with him Foundation for childhood tumors to raise awareness about NF1 and raise funds for much-needed research.
Last month was World Neurofibromatosis Day, when more than 115 buildings across Australia were lit blue and green to show solidarity with the 13,000 children and adults in Australia living with the condition.