Shining a light on ‘lesser known’ disability

A Wodonga mother hopes lighting up the water tower on Wednesday evening will bring awareness to a genetic disease that affects her two children.

Vanessa Engel says despite being more common than Cystic Fibrosis, Multiple Sclerosis and Huntington's Disease, few people have heard of Neurofibromatosis (NF).

The condition, which affects one in every 2500 Australians, can be invisible with (often benign) tumours growing behind the skin causing nerve pain, but it can also result in visible tumours and a range of other symptoms.

Ms Engel thinks the condition is less well-known because when people see Neurofibromatosis sufferers, it’s not a traditional looking disability.

“I want to raise awareness of this condition in our community and make it a safe place for my children and others living with this,” she said.

The water tower will light up blue on Wednesday for Neurofibromatosis Awareness Month.

Ms Engel has been on a big health journey with her children Sage, 13, (diagnosed at age two) and Liam, 11, (diagnosed at five months old).

“Sage has had four operations and Liam has had one but they are both in and out of hospital appointments regularly and they are both preparing for upcoming surgeries,” she said.

Trips to Melbourne for medical appointments are frequent but Ms Engel always looks for ways to make the longer trips fun like visiting the beach, zoo or aquarium.

There are three main types of NF and they each come with their own set of common symptoms.

Both Sage and Liam have NF1, characterised by brown skin spots called café-au-lait marks, freckling and benign tumours known as neurofibromas.

Ms Engel said when the kids were four and five years old, she found a local paediatrician who saw them regularly throughout the year.

The family was fortunate to be linked in with the NF clinic at Royal Children’s Hospital Melbourne, funded by the Children’s Tumour Foundation, for their treatments and specialist appointments.

Sage has been diagnosed with scoliosis, an optic pathway glioma (OPG), bowing of the tibia, pre-precocious puberty (at correct age now), anxiety and experiences learning difficulties.

Sage had surgery in late 2020 to remove two plexiform neurofibromas.

The surgery went well, but recovery was harder than anticipated. The two growths were sent off to pathology for testing, but thankfully nothing more serious was detected.  

Liam has also been diagnosed with scoliosis, ADHD and Autism, as well has learning difficulties, neurofibromas and experiences gastrointestinal issues.

Ms Engel and her family look forward to seeing the water tower light up and hope it raises much-needed awareness in the community.