Understanding routine health surveillance & transition of care in NF1 

Dr Yemima Berman is a Clinical Associate Professor and Head of Department of Clinical Genetics at the Royal North Shore Hospital. Her department includes the NF Clinic in Sydney, where NF treatment and management is supported by a team of clinical geneticists, neurologists, dermatologists, genetic counsellors and clinical nurse specialists working together to deliver a multi-disciplinary approach to NF patient care. 

Dr Berman attended the 2026 NF Conference in person and we thank her for the recommendation to cover two inspiring presentations with a focus on research & development of improved health services for NF patients in this series. 

Both presentations were part of the ‘Clinical Care Program’, a session organised by NF specialist clinicians for clinicians at various stages of their career and an interest to learn more about NF.                               

Better routine health surveillance for people with NF1 in primary care

A health services researcher improving routine health surveillance- what does this mean?

Dr Vanessa Merker is a health services researcher at Harvard University and she is interested in NF1 support in primary care, where GPs and local health care professionals are the patient’s first point of call.  

She delves into how new knowledge on best practice in NF1 can be best incorporated in primary care. She does not just want to know whether best practice advice is followed, but also how widespread and accessible any new approaches to better care are. Can all patients with NF1 across the US get the same level of quality care?

Investigating whether all NF1 patients receive high-quality, safe and affordable NF1 care

Dr Merker set out to study where the gaps were in equal levels of NF1 care across all states of the US. She noted that only about 29% of NF1 patients attended NF clinics with wide-ranging screening programs. It was clear that those patients who had not visited a NF clinic as part of their care missed important examinations to keep track of NF1 progression.

Her research team then designed a digital tool called ‘My NF Guide’. Its main aim was to achieve the same level of quality NF1 care for all NF1 patients, no matter how far away they would live from a specialist NF1 centre or hospital. Then they needed to make sure ‘My NF Guide’ would work in real life.

How does ‘My NF Guide’ for NF1 patients in the US work?

 ‘My NF Guide’ is a free online tool that can teach NF1 patients as well as their local GPs about up-to-date best practice in NF1 care. It was developed with input from patients, parents and primary care practitioners to make sure that many different needs and preferences were included.

The patient completes an online intake form with important personal information related to one’s medical history. These details are stored and any update from future examinations is added. It basically is a secure and up to date digital NF1 record for the patient.

This is helpful when a new (annual) check-up is scheduled. At that time, ‘My NF Guide’ can produce two letters for the patient to take to the appointment:

• A simple overview for the patient indicating what examinations should be considered by the doctor at this particular time according to best practice
• A separate letter for the primary care practitioner (often the local GP) with a checklist on what is recommended to look for, to do and what to follow up.

How well did the ‘My NF1 Guide’ work in real life?

The study findings showed an increase in NF1 surveillance. This means that the personalised guide to stay on track according to best practice in NF1, improved the level of care of the patient. This was certainly the case for patients not living within reach of a specialised NF-clinic.

‘My NF Guide’ also boosted confidence in the care received, even if the primary care practitioner was not a NF1 specialist. The 2nd letter made sure this doctor knew what was expected according to best practice advice.

Good to know for NF1 patients in Australia!

Similar guides are available in Australia, which helped shape the development of ‘My NF Guide’ in the US. The NF clinic at the Royal North Shore Hospital provides freely available online review checklists for children and adolescents with NF1, while the Nord Sydney Local Health District provides a review checklist for adult NF1 patients.

They also help NF1 patient in Australia with what to look out for and what medical follow up examination may be required. But they lack the valued personalised touch incorporated by Dr Merker in the US.  

The benefit of a ‘Transition of Care’ program in NF1 seems unmistaken

What is ‘Transition of Care’ in NF1?

NF1 care of children and adolescents differs greatly from adult care in the clinic.  The paediatric model of care includes involvement of the family in check-ups and decision-making. In the adult model of care, patients are expected to manage all aspects of their condition themselves.

Around 18 years of age NF1 patients have to make the switch and this can pose serious challenges if the child is not prepared. Special ‘Transition of Care’ programs in NF1 can help teenagers to become more independent. They will need to self-manage the many aspects of their care in the clinic as adults, which previously may have been offered as a ‘one-stop shop’ in the paediatric clinic. 

Conference discussion on the importance of ‘Transition of Care’ in NF1

Dr Angela Hirbe (Washington University in St Louis) and Dr Tena Rosser (The Children’s Hospital in Los Angeles) led an important discussion by experts at the conference.  These two women lead ‘Transition of Care’ programs at their institutions. They used anonymised patient cases to illustrate the benefits and barriers to successful transition of NF1 care from the paediatric to the adult clinic.

This is an area of interest to the NF community in Australia and it was exciting to hear about similar issues faced and some novel approaches debated by US specialist clinicians.

What are the challenges for teenagers with NF1?

One of the most difficult aspects of transitioning into adult care is to change over to new doctors in the adult care system. Another challenge is to deal with the expectations of taking responsibility for their own continued care.

What helps and what doesn’t?

Different scenarios which young people with NF1 may find themselves in where discussed by the panel.

A successful example of transitioned care included a start to talking about transition early in adolescence. This way young patient with NF1 can be introduced gradually to the upcoming change. Preparation for transition includes:

• Better understanding their own medical history, therapies and treatments
• Learning step by step to self-manage their care
• Personal goal setting over time to make a transition plan with support where needed
• Looking for an opportunity to meet the adult care specialist before the transition

The panel raised concerns when transition of care was left too late. The window of opportunity to prepare well may have passed.  Patients run the risk of slipping through the cracks as young adults by missing out on regular follow-ups.

Are there ‘Transition of Care’ programs in Australia?

The ‘Transition of Care’ model presented by Dr Hirbe and Dr Rossen showed many similarities with transition models at the NF clinics in Sydney and Melbourne. Details of the ‘Transition of Care’ program at the Royal Children’s Hospital in Melbourne were presented by Kylie Clark, at the 2025 NF Specialist Day in Sydney.

Good to know for teenagers with NF1 Australia!

It was interesting to hear that the success of Dr Hirbe’s program included events focussed on community building. To nurture a sense of belonging, the NF Clinic coordinator of their ‘Transition of Care’ program organises activities like ‘Camp NF’, ‘Club NF’, a ‘Totally Teen’ online platform and ‘NF Family Day’.

These are familiar activities organised by CTF for our young NF patients in Australia. In a similar way they stimulate feeling part of a supportive community. During adolescence they are firmly believed to add to many positive influences on life with NF1. They may also help readiness for transition of care.