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.