Disorder in the spotlight

AT FIRST glance Alex Nascimben looks like a typical six-year-old boy constantly on the go and wearing a cheeky grin.

But, as his parents Erin and Robert have discovered, looks can be deceiving.

Alex suffers from Neurofibromatosis type 1 (NF1), which despite being a common genetic condition, few people have ever heard of.

NF1 is a genetic disorder that can affect multiple systems of the body.

It is characterised by the presence of skin changes, such as cafe au lait spots, Iris Lisch nodules (benign growths on the coloured part of the eye), and skeletal abnormalities, including scoliosis and bowing of the legs.

Those affected are also at increased risk of developing certain benign tumours of the nervous system.

Mrs Nascimben wanted to share her son's story during NF Awareness Month.

"I only know of one other in Griffith," she said.

"I want to raise awareness because it's not something you can see.

"It might not be obvious but it does have a huge impact on Alex and on us.

"When you read about NF1 it's a common genetic condition yet no one knows about it.

"My husband and I don't suffer from it.

"We've just been told it's a case of bad luck."

Mrs Nascimben said she realised very early on that something wasn't right with Alex, but it took two-and-a-half years for a diagnosis.

"He wasn't a normal kid," she said.

"I have an older son Cristiano and he was so different.

"Alex never slept and was constantly on the go.

"He developed spots on his neck which I thought were just birthmarks until we went to paediatrician Dr Maxwell Hopp, who told us they were something more.

"Around this time he lost complete bowel and bladder control so they sent us to Sydney for tests.

"He had a chiari malformation where his brain had dropped off the base of his skull and was pressing on his spinal cord and had to have painful nine-hour brain surgery.

"Doctors think he may have had it from birth and probably would have had headaches and that's why he never wanted to sleep.

"It is a daily struggle and his condition is controlled by different medications.

"We also travel to the Westmead Children's Hospital in Sydney twice a year for check ups."

NF Australia and the Children's Tumour Foundation of Australia provide care and support to those impacted by Neurofibromatosis.

To find out more or to make a donation go to http://www.ctf.org.au/.

Erin Nascimben with her son Alex, 6.

Erin Nascimben with her son Alex, 6.

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