01 November 2018
Charity rebrands to drive awareness and action for those with nerve tumours
From today, following a major strategic review, the Neuro Foundation charity will be known as Nerve Tumours UK. A key conclusion of the review was that the charity’s name was confusing and did not reflect the work of the organisation or the people that it represents, all of whom have one of the neurofibromatoses - genetic disorders that have a major impact on the nervous system and lead to tumour formation.
Every day in the UK, a child is born with neurofibromatosis – some inherit the condition, others are affected by a random mutation. Nerve tumours can affect anyone: any ethnicity, class or sex. Nerve Tumours UK is the authoritative voice of over 26,000 people in the UK who are born with one of the neurofibromatoses. The charity seeks to expand knowledge of nerve tumours and advance the care for those with them.
Nerve tumours occur in three genetic disorders of the nervous system: Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis. Each of these conditions has its own range of complications, which can be life-limiting and impairs the quality of life. For example, Neurofibromatosis Type 1 involves the nervous system, skin, eye and bone. It predisposes people to many complications, including tumours of the brain and spine; malignant peripheral nerve sheath tumours and breast cancer.
In addition to the physical impact of nerve tumours, many people experience social and economic disadvantages. It is a particularly isolating condition because it is often met with prejudice and bullying. Evidence suggests that the condition leads to severe financial hardship in the third generation.
Sadly, many health care professionals in the UK have little knowledge of nerve tumours and the manifestations of the neurofibromatoses. Obviously, this impacts on early diagnosis. NHS provision is patchy, support depends on location. Some years ago, the charity launched a scheme in partnership with the NHS, to provide regional specialist nurse advisors, but due to a lack of funding, this is not yet available throughout the UK.
The rebrand is also marked by the appointment of Michael Fry as the new chair of the charity, who will lead it towards its 40th anniversary in 2022. Michael takes over from Dr Tim Corn, who is standing down from his position as Chair of The Board of Trustees after five years of dedicated service to the charity. Tim will continue to serve as a trustee for the foreseeable future.
Michael Fry – Chair, Nerve Tumours UK says, “As a parent of a child with neurofibromatosis, I am acutely aware of the challenges faced by those who look to our charity for support. This change of name is not just a rebrand - it is the launch of a revitalised mission to raise awareness and improve outcomes for people affected by nerve tumours. We represent over 26,000 people, their families and friends who deserve greater support and greater understanding.”
Professor Rosalie Ferner - National Complex Neurofibromatosis 1 Lead; Trustee and Medical Advisory Board Member, Nerve Tumours UK adds, “Enhancing awareness of Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis amongst all healthcare professionals is vital. The ultimate aim is early diagnosis and holistic, multidisciplinary care for people with the neurofibromatoses and their families.”
Visit our new website www.nervetumours.org.uk
For further information and interviews, please contact Lionel Salama on 020 3793 2360 or 07957 206 236 or email firstname.lastname@example.org
NOTES FOR EDITORS
Neurofibromatosis Type 1 (NF1) is a genetic disorder causing usually benign (non-cancerous) tumour growth in the nerve tissue. The “spelling mistake” in the gene is found on chromosome 17 and occurs in 1 in 2,500 of the population. It is therefore more common than Muscular Dystrophy and Huntington’s disease, with approximately 25,000 people in the UK diagnosed with NF1. Half of those affected occur in families with no previous history of NF1.
It causes people to develop multiple nerve tumours: most often on the skin but also on the major nerves and spinal roots. The first sign of NF1 to develop in childhood are flat brown birthmarks called café au lait patches. The significance of these may not be realised and the child not diagnosed until much later.
NF1 predisposes people to many complications which affect most of the body systems. Their occurrence is unpredictable. They include disfigurement caused by plexiform neurofibromas, brain tumours, sarcomas, breast cancer epilepsy, scoliosis, rare causes of hypertension. Children with NF1 have an IQ approximately 10 points lower than their peers. In addition, problems with working memory and coordination make schooling a real challenge. Approximately 50% of NF1 children have ADHD and 25% ASD.
Neurofibromatosis Type 2 (NF2 ) is a rare genetic disorder that is caused by a “spelling mistake” in a single gene on chromosome 22. The misprinted gene will be present at birth, but signs of the condition do not usually appear until the teenage years, twenties or later. NF2 can be passed on from a parent or it can start in a family with no previous history of the disorder. It is rarer than NF1, affecting one in every 30,000 people worldwide.
People develop nerve tumours, typically in the brain and spine. These tumours are mainly benign, but they can cause hearing loss, deafness, and mobility problems due to the pressure built up on key nerves. NF2 is very different to NF1 in that virtually all people with NF2 will need operations or other treatments for NF2-related brain or spinal cord tumours at some time. A person who has NF2 has a 50% chance of passing on the condition to each of his/her children. NF2 is a variable and unpredictable condition affecting different people in different ways. It is usually diagnosed by MRI scans.
Schwannomatosis shares some features of NF2 but not hearing loss. What distinguishes Schwannomatosis from NF2 is that people with this diagnosis rarely, if ever, develop vestibular schwannomas, the hallmark tumour of NF2. It is also very unusual to get any other tumours such as meningioma which are quite common in NF2.
With Schwannomatosis, patients don’t get schwannomas in the skin itself, but these develop on the nerves as they leave the spinal cord, or in the major nerves supplying the arms and legs. There are no eye problems associated with Schwannomatosis.
Unless a person comes from a family with definite Schwannomatosis, the diagnosis is only considered after the more likely possibility of NF2 has been excluded. Patients with suspicious symptoms are usually referred to one of the specialist Neurofibromatosis Centres or reviewed by consultants working within a regional genetics service skilled at differentiating this diagnosis.
Legius Syndrome is a condition that is characterised by changes in skin pigmentation (colouring). Almost everyone with Legius Syndrome has multiple café au lait patches on their skin. People with Legius Syndrome also have freckling in the armpit and groins. They tend to have a larger than average head and mild learning difficulties. These characteristics are also seen in NF1.
Legius Syndrome has some similarities with Neurofibromatosis Type 1, but as molecular genetic testing has developed, it became apparent that this is a separate and different condition. The main difference between Legius Syndrome and NF1 is that patients do not develop neurofibromas. Nor do they have any of the health complications that are linked to NF1. Legius Syndrome is a dominant condition which means there is a 50% chance of an affected parent passing it on to each of their children.