Supporting reproductive decision making in neurofibromatosis
A team of clinical geneticists at Royal North Shore Hospital are behind a nationwide survey to better understand how people with neurofibromatosis make important decisions around having children.
Adults with neurofibromatosis face considerable challenges when making decisions about having children, with their offspring having a 50 per cent chance of inheriting the disorder from an affected parent, but no certainty as to how severely their children may be affected.
As part of this study we hope to raise awareness of all available options.
RNSH’s Clinical Genetics Head of Department Associate Professor Yemima Berman said there was little data on neurofibromatosis in pregnancy to assist families in reproductive decision-making.
“Neurofibromatosis is a complex disorder, involving the development of tumours affecting different parts of the body. It is a progressive condition where symptoms tend to develop and worsen over time, but the severity can vary greatly, even within families” she said.
“People living with the condition can develop debilitating disfigurement due to the development of skin neurofibromas;, affecting their mental health, social functioning and the ability to seek employment.”
With funding support through the Flicker of Hope Foundation, researchers are hoping to create resources and recommendations to help people with neurofibromatosis with reproductive decision-making.
The RNSH Clinical Genetics Department provides a national neurofibromatosis skin treatment clinic, a statewide complex management service for adults, and also cares for children in the Northern Sydney and Central Coast local health districts with the condition.
“The Australian government has recently released funding to support pre-implantation genetic testing. It has been recommended women with neurofibromatosis (or women whose partners have it) should be offered access to in-vitro fertilisation (IVF)/pre-implantation genetic testing , but there are no specific tools to assist families with neurofibromatosis with this process despite the considerable complexity involved,” Yemima said.
The study is open to people with neurofibromatosis and their partners, living in Australia who are aged over 18.
The study can be accessed