A child is born with NF every 3 days!
Neurofibromatosis (NF) is a set of complex genetic disorders (NF1, NF2, and Schwannomatosis) that affects almost every organ system, causing tumours to grow on nerves in the brain and throughout the body.
NF can lead to a range of significant health issues including deafness, blindness, paralysis, physical difference, bone abnormalities, cancer, learning difficulties and chronic pain.
NF can affect anyone regardless of ethnicity or gender. It is impossible to predict how mildly or severely someone with NF will be affected and roughly half of all cases arise in families with no history of NF.
There is no known cure, and treatment options are limited.
Neurofibromatosis Type 1 (NF1)
NF1 is the most common of the three genetic disorders, affecting 1 in every 2,500 people in Australia.
NF1 is more prevalent than Cystic Fibrosis, Duchenne Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.
The disorder is characterised by multiple café au lait (light brown) skin spots and neurofibromas (small benign growths) on or under the skin, and/or freckling in the armpits or groin.
Between 50-80% of people with NF1 will have learning difficulties.
It can extend to include more complex health issues like optic pathway gliomas (tumours), brain and spinal tumours, bone dysplasia, plexiform neurofibromas and scoliosis, amongst others.
NF1 is an extremely variable condition. While the majority of people with NF1 will never suffer major medical complications, for others the condition can be severe, debilitating and life threatening.
NF1 affects many different systems of the body, and a person with NF1 may require the involvement of multiple doctors and specialists in their care and on-going management. These include, but are not limited to, dermatologists, neurologists, neurosurgeons, ophthalmologists, orthopaedists, endocrinologists, psychologists, oncologists, cardiologists, and genetic counsellors.
Neurofibromatosis Type 2 (NF2)
NF2 is the second most common type of NF and affects approximately 1 in every 25,000 - 40,000 people.
The signs and symptoms of NF2 usually develop during late teen or early adulthood years, although around 10% of people with NF2 may develop symptoms earlier.
It is characterised by the development of tumours called vestibular schwannomas on the 8th cranial nerve, which is the nerve that carries sound and balance information to the brain.
The most common symptoms of NF2 include ringing in the ears (tinnitus), hearing loss and balance problems.
NF2 is very different to NF1 in that people with NF2 do not usually have a large number of skin changes as seen in NF1. Most people with the condition will, at some point, require surgeries or other treatments for brain or spinal cord tumours.
Schwannomatosis is the most uncommon form of neurofibromatosis and has only recently been identified as a separate disorder.
The genetic disorder affects less than 1 in 40,000 people, and causes the development of tumours - called schwannomas - usually on spinal and peripheral nerves.
Signs of Schwannomatosis usually occur between the ages of 30 and 60, though they can occur at any age. The most common symptom is chronic pain, which can occur anywhere in the body, but other signs can include numbness, tingling, weakness, headaches, vision changes, and swollen areas under the skin where tumours have formed.
Unlike neurofibromas found in people with NF1, schwannomas are typically located deeper inside the body. They are often slow-growing, causing chronic and debilitating pain and may compromise function.
Funds raised from Cupid’s Undie Run will go towards sustaining support services for people living with NF, and to promote world-class research as we work towards developments in treatments and finding a cure for Neurofibromatosis.
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