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In January 2025, RARE Revolution hosted a RARE Rev-inar, supported by the Childhood Tumour Trust (CTT), with grant sponsorship from Alexion Astra Zeneca. CTT is a UK based charity that provides support and a community for those affected by neurofibromatosis (NF1), supporting vital research and raising much-needed awareness. Having Identified a gap in knowledge among healthcare providers (HCPs) about the multi-systematic nature of NF1, the aim of the Rev-inar is to engage medical professionals, exploring the challenges and best practices in the management of NF1 and to highlight that everyone within a medical, educational and social work capacity can be just one degree of separation from someone living with NF1

By Emma Bishop

Café-au-lait spots (light brown coloured skin lesions) are perhaps the most well-known feature of neurofibromatosis (NF1), however the presence of these are not exclusive to the NF1 community—they can be a common skin feature more generally. As Dr Will Evans explains, it is the size and number that is important when considering their diagnosis significance. “Most people who have café-au-lait spots do not have NF1. The diagnostic criteria for NF1 involves having two or more features of the condition—one being six or more café-au-lait spots that are larger than half a centimeter in children or larger than 1.5cm in post-pubertal children and adults.” Importantly, young children with NF1 will typically have more than six café-au-lait spots by the time they are two years of age.

Other dermatological features of NF1 are auxiliary and groin freckling (small freckles that cluster in the groin and armpits), and neurofibromas, which are benign tumours that can grow on nerve cells that typically appear in puberty and adulthood.

Sal Athey’s son, William, didn’t receive his diagnosis of NF1 until he was seven years old. Sal explains that William has quite a complex health picture and that initially doctors were trying to find a reason for his persistent hearing loss and glue ear. His audiologist referred him for genetic testing to check for branchiootorenal (BOR) syndrome. The geneticist, however, rejected this diagnosis and instead recognised signs of NF1 in William. Sal describes going into “instant meltdown” upon receiving the diagnosis as she had some prior knowledge of NF1, having taught a child with the condition, and understanding the potential for developing tumours.

Following the appointment, Sal recognised that both she, and her daughter, Isabelle, had similar hallmark symptoms to William, all pointing to a likely diagnosis of NF1. Despite this it would take a further seven months to receive a formal diagnosis for all. The nature of the delivery and timing of these diagnoses completely floored Sal—in the space of one afternoon, she and her two children, had acquired a rare genetic condition with no meaningful support made available to help process the immediate aftermath.

“It was a really hard time for us. I couldn’t talk about it at first and it took me about a year, to talk to anybody about it. It’s different now, but at the time, I grieved the life we had before the diagnosis, because I felt that we had this whole new reality to deal with.”

A further frustration for Sal was the many missed opportunities to diagnose both her, and William. Sal was consulting with an ophthalmologist for persistent eyesight problems and was being monitored for freckles on her eye, which she now knows were Lisch nodules, another hallmark of NF1. William’s café-au-lait spots were often questioned by medical professionals with Sal being told to keep an eye on them with no explanation as to why. “We only recently discovered that someone had queried NF1 years previously, and written it in William’s notes, but it was never followed up. William was seen by lots of different professionals—presenting as having ADHD, a large head and short stature—all the signs were there, but they were missed.”

Mary Thomas, an NF lead nurse at the complex case centre, in London, explains that alongside skin manifestations, people with NF1 may also experience issues with bone development, endocrine related problems, vision complications and learning and neurodevelopmental difficulties that can cause behavioural issues. She emphasises that the complexity of NF1 requires a multidisciplinary approach, with involvement from paediatricians, neurologists, orthopaedists, endocrinologists, ophthalmologists, and other specialists, to comprehensively manage the diverse range of symptoms.

Mary recounts how, sadly, Sal’s experience is all too common and is something she would like to see changed. “Our ideal would be that health visitors are aware of the café-au-lait spots and would be examining babies’ skin, alongside increased awareness among GPs and school teams. We work closely with teachers and SEN departments and the work of the CTT is amazing in raising awareness, particularly with theirred book campaign and body map”.

The importance of this awareness in improving patient experience is seen first had in Catherine Hickman’s story, and that means the ability to look beyond skin presentations. Receiving a diagnosis of NF1 for her son, Alfred, when he was very young, means that Catherine’s experience has been very different to that of Sal. Alfred’s first hospital referral was at just three weeks old, when he was found to have “a cloudy eye”, and which led to a diagnosis of glaucoma. His pediatrician, however, suspected an underlying condition and referred him for further testing. Specialists were initially convinced he did not have NF1, as he only had one café-au-lait spot and no other typical NF1 symptoms. However, genetic testing eventually confirmed NF1.

Speaking about managing Alfred’s condition, Catherine says, “we’ve never known any different. He’s our only child, and essentially, we’ve been in the medical space since he was three weeks old. Lots of people say, ‘you’re so brave, and I don’t know how you cope’. But the reality is, you don’t have much choice.”

Both Catherine and Sal say CTT has played a vital role in supporting them, allowing them to connect with other families who truly understand what they are going through—a lifeline in the difficult times.

Complex NF1 centres were established to recognise that there are specific NF1-related physical complications, impacting various body systems, that require specialised expertise for effective disease management. These centres provide comprehensive, coordinated care with access to a multidisciplinary team of specialists, which allows for holistic assessment and care management. Mary explains that someone visiting her centre will have access to at least 10 different specialties: a neurologist to check whether any nerve-related tumours are affecting nerve function; an orthopaedist to check for any bone or spinal complications; and an ophthalmologist to monitor eye health. They may also be assessed by a physiotherapist to manage mobility issues, an educational psychologist to support and address learning difficulties and even a plastic surgeon who can help manage pain or visible differences caused by tumours.

For patients under the care of the centres, they receive a consistent point of contact and care coordination, even as their needs change over time. However, while this is seen as the gold standard in care for complex rare disease cases, not everyone with NF1 will have access to a complex centre in their lifetime. Mary notes that while the centres cannot see every NF1 patient in the country, they still serve as a resource and referral hub, especially for patients with more involved or difficult-to-manage NF1-related issues.

While Sal acknowledges that her family are in the early stages of their journey since diagnosis, she hasn’t yet experienced true co-ordinated care. “Our view so far is that all the different specialities work separately. We have had three appointments and we’ve seen a different doctor each time— re-explaining everything each time.” She also feels like she has had to take the initiative to request the appropriate services, be it ophthalmology appointments for the children or a dermatology appointment for herself.

Catherine, on the other hand, has experienced good care coordination, and recognises that they have been fortunate. She says that in the early days Alfred was seen at their local hospital and children’s hospital and that everything changed when his care was transferred completely to the children’s hospital. Being seen by a range of specialists, all under one roof, allowed for better continuity of care, with all departments operating under the same hospital system. It has also meant that Catherine and her family have been able to see the same doctors and nurses over time, building a strong rapport and understanding of Alfred’s case. This familiarity has been immensely reassuring and has facilitated better communication and care management. “Minor things that might concern parents, such as a sickness bug, you look at through a different lens with NF1, and so we are lucky that we can contact the hospital and they are very responsive. The knowledge that we feel well looked after definitely makes us feel more at ease with the situation we are in.”

Will recognises that care can be a postcode lottery to some extent, making it vital to identify those complex NF1 cases who need referral to complex centres versus those who can be effectively managed by local teams. He expands to say it’s important to ensure that those not under complex services can still access expertise if complications arise and that GPs are aware of other specialties that may need to be involved. “Patients need to be seen by someone with disease knowledge who knows what is pertinent and where to go if problems arise.”

For Will, a way to address this is through education for HCPs and resources available at the point of care targeted for the professional and the setting that the patient is seen in. For example, he says that while a GP knows how to treat hypertension generally, there may be nuances for an adult with NF1 that require further investigation. “That is uniquely different to other patients,” Will explains. “Most GPs will not know this, and unless the patient knows, it is highly unlikely it will be adequately investigated.” He believes greater information should be delivered to primary care in a succinct way, prompting doctors to question ‘what are the things I should be doing differently because the patient has NF1?’

To ensure HCPs can provide the best possible care, Will believes it is important to have the technology in place to support medical professionals, “removing duplication of work and improving the communication between different specialties.” He also supports working with existing models of care and adapting for the needs of the NF1 patient, to optimise any work that has already been done.

Mary echoes the importance of having the right systems in place saying, it’s a common misconception that all services and settings in the NHS are connected. “I wish they were but they’re not and so we see patients who may have had scans at a different hospital but we don’t know or can’t access these.” Mary is hopefully that ongoing updates to infrastructure will remove this barrier in time. “As technology has improved, this joined up way of working in the NHS is going to improve.” She also wants the learning to continue among HCPs and says there are a wealth of online courses and resources available including theCTT continuing professional development (CPD) training module for HCPs. Her hope is that people no longer say, ‘my local healthcare team say my condition is so rare, they’ve never seen anyone with it before.’

For Catherine and Sal their hope very much centres around the need for improvement in diagnosis. “Once I’d got my head around my diagnosis, I felt like the last 42 years of my life made sense, because I had a lot of physical limitations, which I didn’t understand. I had a lot of cognitive differences to other people, which I’d learned to mask and get through life with, which is absolutely exhausting, but for the first time, I understood why I was the way I was. I don’t want my children to go through what I went through and so I hope that adult services will continue to support them throughout their lives.”

And as they look ahead to their children’s futures the topic of improved access to support services and transition pathways is front and centre. All this reinforces the vital need for more work in driving increased awareness—paving the way for a more supported and coordinated future for those living with NF1 and their loved ones.

This article is just a small insight into a much wider conversation and campaign which aims to show the mere one degree of separation professionals within a medical, educational and social work capacity may be from someone living with NF1 and how we can all play a role in improving outcomes. To watch the full interview with Sal, Catherine, Mary and Will please clickhere

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We are delighted to work with Childhood Tumour Trust on this One degree of separation campaign, to raise awareness of the many different healthcare disciplines involved in the care of those with neurofibromatosis (NF1) and the importance of multi-disciplinary care. For more information visit https://www.childhoodtumourtrust.org.uk and download the factsheets below.

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