Neurofibromatosis. Information Leaflet

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Noel Clarke
6 years ago
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1 Neurofibromatosis Information Leaflet

Neurofibromatosis Type 1 (NF1) is a genetic disorder causing usually benign (non-cancerous) tumour growth in the nerve tissue.

2 What is Neurofibromatosis? Neurofibromatosis (NF) is one of the world s most common neuro-genetic conditions. The effect on families can be devastating, more so because they are unlikely to have heard of NF before diagnosis and won t know where to find help. What is NF1? Neurofibromatosis Type 1 (NF1) is a genetic disorder causing usually benign (non-cancerous) tumour growth in the nerve tissue. It affects one in every 2,500 people worldwide and there are around 25,000 people living with NF in the UK. Half of those affected occur in families with no previous history of NF1. NF1 can start for the first time in any family, but if you or your partner already have the condition, there is a 50% chance your child will develop NF. What are the signs for diagnosis? Six or more coffee coloured marks (café au lait spots) on the skin in the first five years of life Confirming feature e.g. freckling in unusual places, lisch nodules Possible complications Benign (non-cancerous) skin lumps (neurofibromas) Large disfiguring benign tumours (plexiform neurofibromas) Tumour growth along optical nerves (sight may be affected) Curvature of the spine (scoliosis) Brain and spinal tumours Internal tumours, usually benign Increased risk of epilepsy Malformation of the long bones (pseudarthrosis). This can cause problems for children s leg development and may result in operations or amputation Speech problems and learning difficulties and/or behavioural problems, that can lead to social isolation Find out more at

3 NF1 or NF2? NF1 and NF2 are separate and different conditions. The severity will vary from person to person and whilst some may live a normal life, many of those with NF could have multiple medical, physical and psychological complications. What is NF2? Neurofibromatosis Type 2 (NF2) is a genetic disorder of the nerve tissue. It is rarer than NF1, affecting one in every 30,000 people worldwide. There are over 1000 in the UK and, as with NF1, an affected person has a 50% chance of passing on the altered gene to their children. What are the signs for diagnosis? Symptoms of NF2 are less distinct than symptoms of NF1. Around 90% of patients develop tumours on the nerves responsible for hearing and balance. This can cause some of the following symptoms: Gradual hearing loss, that usually gets worse over time Ringing or buzzing in the ears (tinnitus) Balance problems, particularly when moving in the dark or walking on uneven ground Other complications of NF2 can include: Benign brain tumours (meningiomas) Tumours in the spinal cord (meningiomas, schwannomas), Cataracts, affecting vision Skin tumours (schwannomas) Treatment of Neurofibromatosis There is currently no cure for NF, but complications can be managed by medication, speech & language or behavioural therapies for learning difficulties and behavioural problems. Surgery is the principal treatment for many of the symptoms for both NF1 and NF2 as well as radiotherapy to treat tumours. Our website features a detailed Knowledge Hub for all things NF!

The Neuro Foundation Our vision is to improve the lives of those affected by Neurofibromatosis. Every day a baby is born in the UK with Neurofibromatosis.

Our Work Specialist Support Our primary focus is on developing and funding a team of Specialist Advisors, who provide crucial support to patients and families.

Rosemary Ashton manages the helpline and is available on Tuesdays and Wednesdays between 9am-5pm on 07866 946334 or you can email her at Rosemary@nfauk.org.

4 The Neuro Foundation Our vision is to improve the lives of those affected by Neurofibromatosis. Every day a baby is born in the UK with Neurofibromatosis. There are over 25,000 people in the UK affected by the condition and as yet, there is no cure. Our Work Specialist Support Our primary focus is on developing and funding a team of Specialist Advisors, who provide crucial support to patients and families. They give vital support in homes, schools and hospital clinics, offering practical and emotional support. National NF Helpline We have a National Helpline that covers the whole of the UK. Rosemary Ashton manages the helpline and is available on Tuesdays and Wednesdays between 9am-5pm on or you can her at Rosemary@nfauk.org. Knowledge Hub We know that it is not just patients who need information on NF. Family, friends, medical professionals, educators and employers often need information on how best to support those with NF. We provide detailed information sheets which you can find on our website Solidarity & Research We support research into the treatment and prevention of NF. We also generate campaigns to raise awareness of the condition and the challenges it presents. Community Here at The Neuro Foundation we aim to link families and professionals together. We coordinate activities, from hosting our own awareness events, to information days, catering to both adults and children. We have an ever growing online presence on Facebook, Twitter and Instagram, an informative website, as well as a specialist website for under 18 s. The

5 Supporting The Neuro Foundation We rely on the generosity of our members and supporters in order to provide a range of services and support to those affected by Neurofibromatosis. Membership & Donation You can choose to make a one-off donation or become a member. Please choose from one of the following and complete the form below. Make A Donation: I would like to help The Neuro Foundation by donating the sum of... Become A Member I would like to become a member of The Neuro Foundation and enclose payment of... Individual Membership 15 Family Membership 22 Other membership types including concessions and Overseas Membership are available on request. Payment To pay by credit or debit card, please fill in the information below. Alternatively, cheques can be made payable to The Neurofibromatosis Association. Card Number: / / / Issue Number (if applicable) Start Date: / Expiry Date: / Security Code Date: / / First Name:... Surname:... Full Address: Postcode:... Tel no If you are a UK taxpayer, under the Government s Gift Aid scheme, the Neuro Foundation caa claim the tax you have already paid on your gift. This means that your donation can increase in value by 25% at no extra cost to you. You must pay UK income tax or capital gains tax equal to the tax we can claim on your donations. Please tick if applicable: I declare that I want Gift Aid to apply to my donation Signed... Date...

Designed to be appealing to young people, the site offers tailored information on NF as well as many downloadable resources.

others their own age. The Neuro Foundation Website - www.nfauk.

for parents, teachers and health professionals. It is also the place to keep up to date with the latest news & events.

6 Visit Our Websites The Neuro Foundation has two websites, a main site and a brand new website exclusively for under 18 s. My NF Website - We now have a new website exclusively for under 18 s. Designed to be appealing to young people, the site offers tailored information on NF as well as many downloadable resources. The site hosts the MyNF Wall where members can share their photos, videos, links and blog posts with other members, helping to expand the online NF community with others their own age. The Neuro Foundation Website - On our revamped site you can find information about the services we provide, a range of resources and research reports on Neurofibromatosis, as well as advice for parents, teachers and health professionals. It is also the place to keep up to date with the latest news & events. We also have an events gallery where we post photos of your fundraising events and activities! The Neuro Foundation is the working name of The Neurofibromatosis Association Registered Charity Number /SC The Neurofibromatosis Association is a Company limited by guarantee. Registered in England and Wales, No The Neuro Foundation HMA House (Suites 7-10) London SW20 0TL Telephone: info@nfauk.org

THE CHILD WITH NEUROFIBROMATOSIS TYPE 1 (NF1) A GUIDE FOR

THE CHILD WITH NEUROFIBROMATOSIS TYPE 1 (NF1) A GUIDE FOR HEALTH CARE PROFESSIONALS Neurofibromatosis is actually a term that encompasses at least two distinct disorders, Neurofibromatosis Type 1 (NF1)