EXCLUSIVE Our little boy was happy and healthy until we found out his ‘normal’ birthmarks were a sign of a devastating disease described as a ‘ticking time bomb’
- Grayson was diagnosed at 16-months-old; the disease is incurable
- Mum Jennifer, 40, said it could worsen at any moment
- READ MORE: Sydney dad discovers his genetic disease at 44
When Jennifer Pearsall took her youngest son Grayson to hospital after an allergic reaction to eggs, doctors were far more concerned about the ‘birthmarks’ on his back.
The one-year-old’s marks appeared after he was born and, like most parents, they assumed they were completely normal.
However, that was far from the case, with those small brown patches actually the sign of an incurable genetic disorder described by his mum as a ‘ticking time bomb’.
Jennifer, 40, from Brisbane, recalled the moment she opened a letter in late January 2018 explaining Grayson had Neurofibromatosis Type 1 (NF1). They’d gone through a lengthy testing process and an MRI a few weeks prior.
The condition causes flat dark patches to appear on the skin and the growth of benign tumours just under the skin. These tumours can grow in the nerves near the spinal cord and the brain, and can turn cancerous at any moment.
Jennifer took Grayson to the hospital after a reaction to egg, but doctors raised concerns about the spots on his back (pictured). Jennifer thought they were ‘birthmarks’ but instead they’re were café au lait spots – a main indicator of the disease
Grayson Pearsall was diagnosed with a genetic disease at age one in January 2018. His mum Jennifer says the incurable condition is a ‘ticking time bomb’
‘We had no call – just a letter,’ she told FEMAIL.
‘In that situation, you pretty much have to absorb the information in front of you. There’s nothing you can do about it. You grieve, you’re angry and think “Why us? Why Grayson?” but this will not define him.’
Neurofibromatosis Type 1 (NF1) is the most common type of the condition; it affects an estimated one in 3,000 people in Australia.
The ‘birthmarks’ on Grayson’s back are known as ‘café au lait spots’ – and the main indicator of the disease.
Now he has hundreds of the spots on his body and they keep appearing.
‘When I saw the paediatrician at the hospital the first time, he said: “You need to act on this now, he needs to see a genetic specialist, this is something not to ignore”. That’s when I started to panic,’ Jennifer said.
As Grayson grew, he had a larger head circumference than normal which was another indicator of NF.
Now he has occupational therapy, psychology, speech therapy and physiotherapy. He’s also been diagnosed with ADHD and ASD; research has found both are more prevalent in children with NF1.
Neurofibromatosis Type 1 (NF1) is the most common type of the condition; it affects an estimated one in 3,000 people in Australia
Now aged seven, he’s been constantly in and out of hospital. He has countless tumours on his spine and in his brain but they haven’t caused any side effects yet. While the tumours are benign, they could turn cancerous at any moment
Grayson, now seven, has countless tumours on his spine and in his brain but thankfully they haven’t caused any side effects yet.
While the tumours are benign, they could turn cancerous at any moment – something Jennifer described as a ‘ticking time bomb’.
‘His tumours are pressing against his spine and brain – only some can be removed but we can’t prevent them from growing back,’ she said. ‘The biggest battle is the fact that he has it for life – there’s no cure – and it breaks my heart as a parent.
‘A few weeks ago in the car he asked my husband Tim a question and said, “Dad, why can’t my tumours disappear?”.’
The biggest one is on his spine at 13cm. There are also tumours in his brain behind his eyes and a 6.5cm one next to his heart.
He has a few tumours in his brain and behind his eyes (pictured). The biggest tumour on his spine is 13cm
‘The biggest battle is the fact that he has it for life – there’s no cure – and it breaks my heart as a parent,’ Jennifer said. Grayson now has two MRIs a year to monitor any changes to his brain and optic nerve
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Grayson now has two MRIs a year to monitor any changes to his brain and optic nerve.
‘It’s just a monitoring game. Every MRI is a horrible experience – waiting for the results and not knowing what it could be,’ Jennifer said.
‘My assumption is that it’s a ticking time bomb – you don’t know when it’s going to change or when things are going to get so serious to the point where he’s going to be living a lot of his days in a hospital.
‘There’s no prevention for these kids or adults diagnosed with NF. It’s just sitting there waiting to take its toll on their bodies. We will try to make it as normal we as can and advocate for some kind of NF awareness out there.’
Grayson loves football but can’t play the sport because his parents are worried any type of rough movement might impact one of his tumours and cause further damage.
‘We asked him if he wanted to be a referee because then he can still play the sport, no one can touch him and he can boss everyone else around,’ Jennifer said with a laugh.
‘I don’t think he’ll ever be able to have a massage either, which is an odd thought, because you shouldn’t touch tumours.’
‘It’s just a monitoring game. Every MRI is a horrible experience – waiting for the results and not knowing what it could be,’ Jennifer said
Jennifer and Tim do not have NF, but the disorder is passed through genetics and can pop up ‘spontaneously’.
If Grayson were to have children later in life he has a 50 per cent chance of passing it onto his kids.
Jennifer said there’s one ‘life-long’ drug that stops the disorder from worsening but it would cost the family $2,500 a month.
Other common symptoms of NF1 include benign swelling of the nerves known as Neurofibromas, freckling in unusual places like the groin and armpits, and freckles within the iris (lisch nodules).
Earlier this month the family attended the Colour Run to raise money and awareness about NF.
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What is Neurofibromatosis Type 1 (NF1)?
Neurofibromatosis (NF) is a group of genetic disorders: NF1, NF2 and schwannomatosis (shwon-oh-ma-toe-sis).
NF1 (also known as von Recklinghausen disease) is the most common type, affecting an estimated one in 3000 people in Australia.
NF1 is a variable disorder, which means that it can affect children in many different ways. It usually causes freckles or spots, most often on the skin or eyes, and benign (not cancer) swelling or lumps around the nerves.
Many children with NF1 have no or very few medical problems, but about four in 10 children will have some complications. Treatment for NF1 depends on the particular medical problems your child develops.
NF1 is something you are born with and it is not contagious. Some of the signs of NF1 do not appear until later in life, often around puberty.
Café au lait spots: These are flat coffee-coloured patches on the skin. It’s common to have one or two of these spots, but people with NF1 always have six or more of these birthmarks, which are always present before the age of five years. The number of café au lait spots is not related to the severity of the disease and they cause no problems or symptoms.
Freckling: People with NF1 often have freckles in unusual places such as the armpit or the groin. They also tend to appear later (between ages three and five). Skin freckles are smaller than café au lait spots.
Neurofibromas: These are benign swellings around nerves, which are usually seen as small lumps in or under the skin. Neurofibromas are not normally seen in young children, but tend to increase in number and size around puberty and in adult life. They are usually small and generally cause no physical symptoms.
Lisch nodules: These are small freckles within the iris (the coloured part of the eye). Lisch nodules develop by puberty in people with NF1. They are usually seen only on examination with a special lamp, and never affect vision or cause other symptoms.
Source: Royal Children’s Hospital Melbourne
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