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’
When Jennifer Pearsall took her youngest son, Grayson, to the hospital for an allergic reaction to eggs, doctors were much more concerned about “birthmarks” on his back.
The one-year-old’s marks appeared after he was born and, like most parents, they considered them completely normal.
However, this was far from true: these small brown spots were actually a sign of an incurable genetic disease, which his mother called 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 had gone through a lengthy testing process and an MRI in the weeks prior.
This disease causes flat, dark spots to appear on the skin and the growth of benign tumors just under the skin. These tumors can grow in nerves near the spinal cord and brain and can turn cancerous at any time.
Jennifer took Grayson to hospital after reacting to the egg, but doctors expressed concern about spots on his back (pictured). Jennifer thought they were “birthmarks,” but they were actually café-au-lait spots—a leading indicator of illness.
Grayson Pearsall was diagnosed with the genetic disorder at the age of one in January 2018. His mother Jennifer says the incurable disease is a “ticking time bomb.”
“We didn’t have a call, just a letter,” she told FEMAIL.
“In a situation like that, you pretty much have to absorb the information in front of you. There’s nothing you can do about it. You grieve, you get angry and you think, “Why us? Why Grayson? but that will not define him.”
Neurofibromatosis type 1 (NF1) is the most common type of the disease; it affects approximately one in 3000 people in Australia.
The “moles” on Grayson’s back are known as “cafe-au-lait spots” and are a major indicator of the disease.
Now he has hundreds of spots on his body, and they keep appearing.
“When I first met the pediatrician at the hospital, he said, ‘You need to act now, he needs to see a genetic counselor, this can’t be ignored.’ That’s when I started to panic,” Jennifer said.
As Grayson grew, his head circumference became larger than normal, another indicator of NF.
He is now undergoing occupational therapy psychology, speech therapy and physiotherapy. He was also diagnosed with ADHD and ASD; studies have shown that both diseases are more common in children with NF1.
Neurofibromatosis type 1 (NF1) is the most common type of the disease; it affects approximately one in 3000 people in Australia.
He is seven years old and has been in and out of the hospital all the time. He has countless tumors on his spine and brain, but they have not caused any side effects yet. Although tumors are benign, they can turn cancerous at any time.
Grayson, now seven years old, has countless tumors on his spine and brain, but fortunately they have not yet caused any side effects.
Although the tumors are benign, they can turn cancerous at any time, which Jennifer called a “ticking time bomb.”
“His tumors are pressing on his spine and brain. Only some of them can be removed, but we cannot prevent them from growing back,” she said. “The biggest problem is that he has this disease for life – there is no cure – and that 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 tumors go away?'”
The largest is on his spine and is 13cm high. He also has tumors on his brain behind his eyes and a 6.5cm tumor near his heart.
He has several tumors in his brain and behind his eyes (pictured). The largest tumor on the spine is 13 cm.
“The biggest problem is that he has this disease for life – there is no cure – and that breaks my heart as a parent,” Jennifer said. Grayson now needs two MRIs a year to monitor any changes in his brain and optic nerve.
Grayson now needs two MRIs a year to monitor any changes in his brain and optic nerve.
“It’s just an observation game. Every MRI is a terrifying experience, waiting for the results and not knowing what it could be,” Jennifer said.
“I guess it’s a ticking time bomb: you don’t know when things will change or when things will get so serious that he has to spend most of his days in hospital.”
“There is no prevention for children and adults diagnosed with NF. It just sits and waits to wreak havoc on their bodies. We will try to make this as normal as possible and advocate for some awareness of SF.”
Grayson loves football, but cannot play the sport because his parents are concerned that any rough movement could affect one of his tumors and cause further damage.
“We asked him if he wanted to be a judge because then he could still play the sport and no one could touch him and he could boss everyone around,” Jennifer said with a laugh.
“I don’t think he’ll ever get a massage, which is a strange thought because you can’t touch tumors.”
“It’s just an observation game. Every MRI is a terrifying experience, waiting for the results and not knowing what it could be,” Jennifer said.
Jennifer and Tim do not have NF, but the disease is genetic and can occur “spontaneously.”
If Grayson has children later in life, he has a 50 percent chance of passing them on to his children.
Jennifer said there is one “lifelong” drug that will stop the disorder from getting worse, but it will cost the family $2,500 a month.
Other common symptoms of NF1 include benign tumors of the nerves known as neurofibromas, freckles in unusual places such as the groin and armpits, and freckles on the iris (lichen nodules).
Earlier this month, the family attended the Color Run to raise money and awareness for NF.
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