Vanessa Martin
Founder and CEO, Childhood Tumour Trust
Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. Yet, the condition remains under-diagnosed and often mismanaged, according to a children’s charity.
Although classed as a rare disorder, NF1 is one of the most common genetic conditions. Despite its prevalence, approximately one in 3,000,1 NF1 remains largely under-recognised and under-diagnosed, which can lead to medical complications.
Range of NF1 symptoms
NF1 affects everyone differently and can cause a range of symptoms, including learning difficulties, brain tumours, bone issues, autism spectrum disorder (ASD), nerve tumours and a higher cancer risk. Multiple café-au-lait marks are often one of the earliest signs of NF1. Another key feature is Lisch nodules, which are small growths on the iris. Both help diagnose NF1, especially in early childhood, allowing for proper monitoring, support, access to educational resources and informed family planning due to the genetic risk. Lack of diagnosis and no standardised guidelines means care for those with NF1 remains a hit-and-miss.
NF1 needs lifelong support
NF1 is a complex condition that needs life-long monitoring. Vanessa Martin, Founder and CEO of the Childhood Tumour Trust, discusses raising awareness. “When my daughter was diagnosed at three [years of age], we felt completely alone. There was little support and no clear guidance,” explains Martin. “This charity was founded to bridge that gap.” Whilst there are two specialist centres in the UK, they can only see a limited number of cases, leaving many individuals without the knowledge or support they need.
Everyone with NF1 deserves to be
seen by a healthcare professional
(HCP) who understands the condition.
Expert care required
Everyone with NF1 deserves to be seen by a healthcare professional (HCP) who understands the condition, no matter where they live or how NF1 affects them. Up to 60% of children with NF1 have learning difficulties. They often struggle with coordination, focus and social skills. Around 15% develop an optic pathway glioma, making early monitoring essential.
NF1 also increases the risk of certain cancers. Malignant peripheral nerve sheath tumour (MPNST) — a type of sarcoma — is linked to NF1, and women with the condition face up to a fivefold higher risk of breast cancer between 30 and 50. Many are unaware they qualify for potential life-saving screening from the age of 40.
Campaign for NF1 care
The Childhood Tumour Trust is championing change; their ‘One degree of separation’ campaign is set to remind HCPs of the importance of early diagnosis and coordinated care.
[1] Orphanet. 2014. Neurofibromatosis type 1.
