A Sydney father told how he found out he had neurofibromatosis after his daughter’s diagnosis

A Sydney man told how he found out he had a genetic neurological condition after his young daughter was diagnosed.

Nathan Coughlan, 44, had no idea he had neurofibromatosis (NF), and had suffered from migraines, depression, learning difficulties, sleep disturbance, occasional visual disturbances and ringing in the ears his whole life.

It wasn’t until his 2-year-old daughter Chloe was diagnosed with a genetic and incurable condition that doctors turned their attention to Nathan and decided he had the same disease.

Nathan Coughlan, 44 (pictured right) had no idea he had neurofibromatosis (NF) until his 2-year-old daughter Chloe (pictured left) was diagnosed with a genetic and incurable condition.

Nathan Coughlan, 44 (pictured right) had no idea he had neurofibromatosis (NF) until his 2-year-old daughter Chloe (pictured left) was diagnosed with a genetic and incurable condition.

The father-of-two and his wife, Pam, took 1-year-old Chloe, who was severely constipated, to the emergency room where doctors noticed some strange birthmarks on her body.

“One of the doctors noticed birthmarks all over her body and indicated neurofibromatosis,” Nathan told FEMAIL.

Both Chloe and Nathan had what are known as café au lait marks which are flat areas of dark or brown skin that can occur anywhere on the body and, while harmless, can be indicative of a genetic condition.

Khloe also missed some important developmental milestones that led doctors to believe there might be something more sinister at play and she was diagnosed with NF1 when she was two years old.

Khloe also missed some important developmental milestones that led doctors to believe there might be something more sinister at play and she was diagnosed with NF1 when she was two years old.

Chloe also missed some important developmental milestones that led doctors to believe there might be something more sinister at play and began looking for a diagnosis.

Over the next few months, Chloe had test after test and referral after referral, during which time her development began to decline and she stopped speaking.

Both Chloe and Nathan had coffee with milk marks which are flat areas of dark or brown skin that can occur anywhere on the body and, while harmless, can be indicative of a genetic condition

Both Chloe and Nathan had coffee with milk marks which are flat areas of dark or brown skin that can occur anywhere on the body and, while harmless, can be indicative of a genetic condition

“She would go up to the other kids and point them out and maybe say some kind of kid babble but she stopped doing that,” Nathan said.

When she was two years old, she was determined to have Neurofibromatosis 1 — one of three forms of the genetic condition in which noncancerous tumors grow in the brain, spinal cord and nerves.

Symptoms vary, but generally include bone deformities, learning difficulties, high blood pressure, and unfortunately there is no cure.

“The diagnosis was a bit of a relief now that we knew what was going on and that we could finally come up with a plan of action on how to manage my kidneys,” Nathan said.

After asking Nathan a few questions on another date with Chloe, doctors began to suspect that he might also have NF.

They started asking me questions and then came to the conclusion that I had it all my life without knowing it, and unfortunately I passed it on to Chloe.

Nathan was no surprise that he also had NF1 after he did a little research during Chloe’s trip and said the confirmation was bittersweet.

“I have answers for why I am the way I am,” he said.

Nathan (right) pictured with Chloe, his wife Pam (second left) and six-year-old daughter Madison (far left) said the diagnosis gave him answers to their

Nathan (right) pictured with Chloe, his wife Pam (second left) and six-year-old daughter Madison (far left) said the diagnosis gave him answers to “why he is the way he is.”

After doing a bit of research on the condition and reading all the symptoms kids with this have, it made a lot of sense with a lot of hardships I had at school.

I struggled with math and making friends and social interaction with other kids.

Nathan believes he was not diagnosed due to a lack of awareness when he was young and the fact that his symptoms were less obvious.

“Maybe there wasn’t much knowledge about it with the doctors at the time or maybe they didn’t think it was severe enough,” he said.

Nathan recently discovered he had osteoporosis – a lifelong condition in which bones become weak and brittle and can easily break – which is common in people with NF1 disease.

Nathan said it's 'difficult' not knowing what will happen to Chloe, and she is nonverbal, but she is hopeful that with modern medicine, her outlook may improve quickly.

Nathan said it’s ‘difficult’ not knowing what will happen to Chloe, and she is nonverbal, but she is hopeful that with modern medicine, her outlook may improve quickly.

What is neurofibromatosis?

Neurofibromatosis (NF) is a group of three complex genetic conditions that lead to tumors forming on nerve cells throughout the body, including the brain and spine.

  • Neurofibromatosis type 1 (NF1) – the most common form that affects 1 in 2,500 people in Australia
  • Neurofibromatosis type 2 (NF2) – a rare form that affects 1 in 25,000–40,000 people in Australia
  • Schwannoma – is the rarest of the three with an incidence of 1 in 40,000 people

NF can lead to a range of important health problems including deafness, blindness, paralysis, physical differences, bone deformities, cancer, learning disabilities, and chronic pain.

NF can affect anyone regardless of age, race, gender, or family history and causes tumors (known as neurofibromas) to grow around the body’s nerve cells, including the spine and brain, under the surface of the skin or deep in the body.

It is impossible to predict whether someone with mild or severe NF will be affected, and nearly half of all cases appear in families without a history of NF.

Approximately 20 percent of children with NF1 will develop optic pathway glioma (brain tumor).

About 50-80 percent of children with NF1 will have learning or behavioral difficulties.

Approximately 20 percent of children with NF1 will be diagnosed with autism spectrum disorder or ADHD.

The incidence of breast cancer is significantly increased in women with NF1 disease.

Up to 90 percent of people with NF2 will develop vestibular schwannomas (benign tumors of the auditory nerves) and spinal tumors appear in 60-80 percent of people with NF2.

Anxiety, depression, and social isolation are common among those living with NF, with the suicide risk for people in their twenties four times higher compared to the general population.

source: Children’s Oncology Foundation

“For Chloe, it’s hard to know what she’s going through because she’s not able to communicate with us at this point,” he said.

“It means pretty much the same thing to me, regular checkups with her GP but with a little support from allied health professionals to get her where she wants to be in her stage of life.”

The family is currently applying for NDIS support for a kidney that will need speech and function therapy as she grows.

Nathan said it was “difficult” not to know what would happen to Chloe, but she hopes her view of modern medicine will improve quickly.

We just have to manage the symptoms and other things as they appear. We won’t know how bad or good it will be,” he said.

“Medicine is constantly advancing, so I hope that by the time it reaches my stage, there may be a better treatment for it.”

May is Neurofibromatosis Awareness Month – to learn more about NF or to donate to the cause, visit the Children’s Oncology Foundation website here.

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