Neurofibromatosis 1 (NF1) is a multisystem disorder that results from tumours growing along the nerves. These tumours are usually non-cancerous. However, they can cause a variety of symptoms which may develop gradually over time. NF1 is an inherited condition and is present from birth. In most cases of NF1 the skin is affected, so many patients will have the characteristic birthmarks called “café-au-lait” patches but other symptoms experienced may include learning difficulties, problems with their bones, eyes or/and nervous system.
NF1 is a complex condition therefore has a dedicated service which requires a multidisciplinary approach which is offered in London and Manchester. The service in Manchester is headed by St Mary’s Hospital and is led by Dr Grace Vassallo, a paediatric consultant neurologist.
At the clinic, patients can receive a thorough diagnostic process, including physical examinations, imaging such as MRI and CT scans, and genetic testing for a precise diagnosis and treatment plan. In addition, mutation testing can be done to look for rarer NF1 presentations. The clinic operates on a multidisciplinary care approach, involving specialists from a range of fields such as geneticists, dermatologists, neurologists, psychologists etc to provide a holistic care tailored to each patient. Regular follow up appointments are scheduled to monitor the tumour progression and address any new symptoms and concerns.
In addition to expert diagnosis and treatment, patients and their families can be referred to additional appropriate services such as counselling to address the psychological and emotional aspects of living with NF1. This service is available for both adults and children.
Credits:
Ines Djedje – University of Mancheser 5th year medical student