Neurofibromatosis 2--a family journey
Neurofibromatosis 2 (NF2) is a complex autosomal dominant genetic disorder, now recognized to occur as a result of a mutation on chromosome 22. It is estimated to affect one in every 40,000 individuals worldwide. NF2's clinical manifestations of bilateral vestibular schwannomas and multiple other nervous system tumours have far-reaching implications for patients and families diagnosed with this challenging disorder. Management of these families should occur at specialty centres with the ability to provide treatment of these tumours, if necessary, as well as to have access to genetic testing and counselling. Decisions should be made with the quality of life of each individual as the cornerstone of care: knowing when to and when not to intervene is essential. The Atlantic Lateral Skull Base Clinic in Halifax follows approximately 400 patients with unilateral vestibular schwannomas and other skull base lesions. Twelve NF2 families are followed in this clinic. Several of their amazing stories will be shared in this presentation. Much can be done to effectively manage NF2 and help patients and families live healthy, happy and productive lives.