A Sydney dad has told of how he discovered he has Neurofibromatosis after his daughter was diagnosed
A Sydney man has 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 struggled with migraines, depression, learning difficulties, sleep problems, occasional visual disturbances and ringing in the ears all his life.
It wasn’t until their two-year-old daughter, Chloe, was diagnosed with the incurable, genetic condition that doctors turned their attention to Nathan and determined he suffered from the same affliction.
Nathan Coughlan, 44, (pictured right) had no idea he had neurofibromatosis (NF) until his two-year-old daughter Chloe (pictured left) was diagnosed with the genetic condition and incurable.
The father of two and his wife, Pam, took Chloe, then a year old and suffering from severe constipation, to the emergency room where doctors noticed some strange birthmarks on her body.
“One of the doctors noticed café au lait birthmarks all over his body and mentioned 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 appear anywhere on the body and, while harmless, can be indicative of a genetic condition.
Chloe had also missed some important developmental milestones that led doctors to believe something more sinister might be at play and she was diagnosed with NF1 when she was two years old.
Chloe had also missed some important developmental milestones that led doctors to believe there might be something more sinister at play and began searching for a diagnosis.
Over the next several months, Chloe was subjected to test after test and referral after referral, during which time her development began to regress and she stopped speaking.
Both Chloe and Nathan had café-au-lait marks, which are flat areas of dark or brown skin that can appear anywhere on the body and, while harmless, can be indicative of a genetic condition.
“He would walk up to other kids and point at them and maybe verbalize some kind of baby babble, but he had stopped doing that,” Nathan said.
When she was two years old, it was finally determined that she had Neurofibromatosis 1, one of three forms of the genetic condition in which non-cancerous tumors grow in the brain, spinal cord and nerves.
Symptoms vary but generally include bone deformities, learning disabilities, and high blood pressure, and unfortunately there is no cure.
“The diagnosis was a bit of a relief now that we know what’s going on and can finally come up with a plan of action on how to manage Chloe,” Nathan said.
After asking Nathan a few questions at yet another appointment for Chloe, the doctors began to suspect that he, too, might have NF.
“They started asking me questions and then they came to the conclusion that I had had it all my life without knowing it and unfortunately passed it on to Chloe.”
It was no surprise to Nathan that he also had NF1 after doing some research during Chloe’s trip and he said the confirmation was bittersweet.
“I had answers about why I am the way I am in a certain way,” he said.
Nathan (right) pictured with Chloe, his wife Pam (second left) and their six-year-old daughter Maddison (far left) said the diagnosis gave him answers to “why he is the way he is.”
“After doing some research on the condition and reading all the symptoms kids have with it, it made a lot of sense with a lot of the struggles I had in school.
“I had trouble with math, making friends, social interaction with other kids.”
Nathan believes he went undiagnosed due to a lack of awareness when he was young and the fact that his symptoms were less obvious.
“Maybe there wasn’t as much awareness about it with doctors back then or maybe they didn’t think it was serious enough,” he said.
Nathan recently found out that he has osteoporosis, a lifelong condition in which bones become weak and brittle and can break easily, which is common in people with NF1.
Nathan said it’s “hard” not knowing what will happen to Chloe, who doesn’t speak, but is hopeful that with rapidly progressing modern medicine, her outlook can improve.
What is Neurofibromatosis?
Neurofibromatosis (NF) is a set of three complex genetic conditions that cause tumors to form on nerve cells throughout the body, including the brain and spine.
- Neurofibromatosis type 1 (NF1) – the most common form affecting 1 in 2,500 people in Australia
- Neurofibromatosis type 2 (NF2): a rare form that affects 1 in 25,000 to 40,000 people in Australia
- Schwannomatosis: the rarest of the three with an incidence of 1 in 40,000 people
NF can cause a variety of major health problems, including deafness, blindness, paralysis, physical differences, bone abnormalities, cancer, learning disabilities, and chronic pain.
NF can affect anyone regardless of age, ethnicity, gender, or family history, and causes tumors (known as neurofibromas) to grow around nerve cells in the body, including the spine and brain, below the surface of the the skin or deep in the body.
It is impossible to predict how mildly or severely someone with NF will be affected, and about half of all cases arise in families with no history of NF.
About 20 percent of children with NF1 will develop an optic pathway glioma (brain tumor).
About 50-80 percent of children with NF1 will experience learning or behavioral difficulties.
Approximately 20 percent of children with NF1 will be diagnosed with Autism Spectrum Disorder or Attention Deficit Hyperactivity Disorder
The incidence of breast cancer is significantly increased in women with NF1.
Up to 90 percent of people with NF2 will develop vestibular schwannomas (benign tumors on the auditory nerves), and spinal tumors are seen in 60-80 percent of people with NF2.
Anxiety, depression, and social isolation are common among people living with NF, and the risk of suicide for people in their twenties is four times higher compared to the general population.
Source: Childhood Tumor Foundation
“As for Chloe, it’s hard to know what she’s going through as she can’t communicate with us at the moment,” he said.
“It means more or less the same as it does for me, regular check-ups with her GP but with a little more support from allied health professionals to get her where she needs to be in her stage of life.”
The family is currently applying for NDIS support for Chloe, who will need speech and occupational therapy as she grows older.
Nathan said it’s ‘hard’ not knowing what will happen to Chloe, but he is hopeful that with modern medicine advancing rapidly, her outlook can improve.
“We just have to manage the symptoms and other things as they manifest. We’re not going to know how bad or how good he’s going to have it,” she said.
“Medicine is constantly advancing, so I hope that by the time I reach my stage, there may be a better treatment.”
May is Neurofibromatosis Awareness Month: To learn more about NF or to donate to the cause, visit the Children’s Tumor Foundation website here.