Challenges faced by patients with NF when planning to have children - Health Care Professionals 

Dr Gardiner is a Clinical Genetics and Genetics Research Fellow at the Royal North Shore Hospital in Sydney with combined clinical and research responsibilities. She is a member of the team behind the NFSURE project led by Dr Jane Fleming and Associate Professor Yemima Berman. In her presentation, she presented the complexity of reproductive decision-making by people with NF and highlighted need for better patient-centred care, tools and supporting resources.

Adults with NF who want to start a family are concerned about a range issues, like the 50% risk of genetic inheritance of NF, the impact of a pregnancy on the their own health and access to specialised care providers who understand their needs. The NFSURE Study aimed to specifically explore the reproductive experiences of adults with NF to better understand the challenges they face.

Initially, the research team met face-to-face with 16 focus group participants with NF1 or NF2-SWN to discuss their thoughts on planning a family and what barriers they felt complicated reproductive decision-making. Semi-structured conversations on the topic (Phase 1) with these participants divided into 3 groups revealed key themes, which were further explored in a larger online survey (Phase 2) completed by 126 more individuals with NF1 or NF2-SWN. This 2-step mixed methods approach is a validated approach to combine qualitative and quantitative data and capture the type and degree of burden of real life hurdles faced by adults with NF wishing to start their own family.

Thematic analysis of the focus group discussions revealed the following factors as the most prominent influences on reproductive decision-making by people with NF:

· Lack of accurate information and insufficient professional support

· Financial concerns and emotional burden

· Uncertainty about the future health of offspring

· Cultural and/or familial expectations

The survey responses supported these concerns and even identified additional fears that a pregnancy could worsen neurofibroma growth in women with NF1, and worries around the effects of medication withdrawal in women with NF2. Nearly half of the survey respondents (47.1%) pointed to a lack of adequate information to help with reproductive decision making, as well as a demand for more detailed information on genetic risk and reproductive technology options to make educated choices.

Interestingly, most survey participants also indicated a preference for early reproductive education during face-to-face meetings with health professional. As a result, the NFSURE study recommends health discussions on the topic to become standard of care when patients transition to adulthood, including greater focus on genetic & fertility counselling and patient-specific pregnancy medication adjustments.

Not wasting any time, the research team has collaborated with NF-experts and patients to develop a new educational brochure “Thinking about having Children: For People with Neurofibromatosis” and updated website content on reproductive options in NF.

A follow -up study called NFSURE+ has started to address the specific concern that a pregnancy could worsen neurofibroma growth in women with NF1. This ongoing research will examine how pregnancy and hormonal changes more broadly during the life span impact on neurofibroma growth in NF1.

If you have NF1 and of reproductive age, you are either pregnant or planning a pregnancy, you are invited to join this important new research project – for more information please click here or contact NSLHD-GeneticsResearch@health.nsw.gov.au