The Neurofibromatosis Association was founded in 1982 by Clare Webb and Trish Green.
The Head Office is based in Kingston Surrey with a new regional office in Scotland. We have a national dedicated helpline which is manned four days a week and nine regional Nf specialist Advisors. We also run a summer camp every year.
We were fortunate in the early stages to have the interest and cooperation of Dr Susan Huson, now one of the world's leading experts in Neurofibromatosis and, with her encouragement and assistance, in 1987 we were in a position to hold an international Symposium, bringing together leading specialists from around the world.
This Symposium played a major part in the development of research into Neurofibromatosis as the various specialists who attended went away having agreed to cooperate and to discuss their findings prior to publication (thereby limiting duplication of effort).
Brothers Adam and Neil Pearson who recently appeared on the BBC1 programme "When your face doesn't fit"
The Neurofibromatosis Association now has six main aims:
- provide help, support and advice to those affected by either form of Neurofibromatosis, their families and the professionals working with them. To do this we employ a team of hospital based professional Neurofibromatosis Specialist Advisors around the UK.
- provide relevant, up to date information on both forms of Neurofibromatosis for professionals, families and individuals.
- fund research into both types of Neurofibromatosis.
- provide activity holidays and breaks for children and adults with either form of Neurofibromatosis
- encourage the establishment of local groups and volunteers throughout the UK
- raise awareness of the Neurofibromatoses amongst the general public through fundraising activities
Nf SPECIALIST ADVISORS
It was decided early on that, while funding research would help future generations, those affected today also needed support. In 1991, with the backing of a Core Grant from the DHS, our first Neurofibromatosis Specialist Advisor was employed. Based in Oxford, under the auspices of Dr Susan Huson, who was a Consultant Geneticist at the Churchill Hospital at that time, Jo Castle began a revolution in the care and support of those affected by either type of Neurofibromatosis.
Whether attending clinics, visiting people at home, talking to them on the telephone or, indeed, speaking to healthcare professionals or teachers, Jo helped publicise the problems of Neurofibromatosis and make them more widely known. As a result of her success, The Association has, over the years, expanded the team and now employs Neurofibromatosis Specialist Advisors (NSAs) in eight centres throughout the UK - and, when finances permit, the team continues to expand. The latest addition is a national telephone helpline which operates on Mondays and Thursdays 9 am - 4 pm, staffed by one of our Specialist Advisors.
FUNDRAISING
This all costs money and Core Grants do not last forever. Our search for funds becomes ever more pressing as the number of known cases increases weekly and we still do not have the country fully covered. We organise both national and local fundraising events and are reliant on the support of our members and friends.
In order to steer away from constantly trying to raise funds through strenuous activities, together with Epilepsy Action we have come up with a novel event entitled 'National Doodle Day'. This is an event for everyone, of whatever age or drawing ability. In both 2004 and 2005 we had around 300 doodles from celebrities - from the Tweenies and Teletubbies to the more venerable Sir Jimmy Savile with many in between. They came from the worlds of pop, of sports and of stage, screen and television. After the event, we auctioned some of these and raised over £16,000 in 2004 - over £13,500 in 2005. Find out more about of National Doodle Day here.
On a local level, groups and individuals around the country organise activities, many of which are announced and reported in local newspapers. Anyone can raise money through all sorts of interesting and original ways - just contact our Events Co-ordinator to see what is going on.
INFORMATION
We provide relevant, up to date information not only for those affected, their families and the professionals working with them but also to anyone who, for whatever reason, wishes to know more about the conditions we represent. We produce fact sheets and booklets concerning different aspects of both types of Neurofibromatosis; for our members we also publish a Newsletter three times a year.
Even though we send out more than 14,000 Fact Sheets a year, there are still many doctors and consultants who know little about the disorders. In the past few years, Neurofibromatosis has been put down to:
- too much flying in World War II.
- being frightened by a cat, and
- not washing frequently enough
to name but three of the more ridiculous diagnoses.
We have also heard reports of doctors who say they have been in practice for more than 30 years and there is nothing they don't know about Neurofibromatosis.
Judge the accuracy of that kind of opinion by considering the following:
- it is just 20 years since specific learning difficulties and behavioural problems have been definitely association with Nf1.
- it is less than 20 years since Nf1 and Nf2 were definitely found to be separate disorders. Until then, many in the medical profession thought that both Nf1 and Nf2 were caused by the same defective gene, it just affected you differently since the two conditions have a number of overlapping symptoms.
- identification that the Nf1 gene was on chromosome 17 came in 1987.
- it was not until 1991 that the gene for Nf2 was found on chromosome 22.
- cloning of the Nf1 gene did not take place until 1990.
- the Nf2 gene was cloned only in 1993.
You will see from the dates mentioned that, in fact, many of our current General Practitioners qualified long before these facts were known and they do not necessarily know everything there is to know about Nf. As yet, we are barely scratching the surface. Much more will be discovered about Nf in the years to come.
Although we produce most of these Fact Sheets in house, they still cost the Association money and it is estimated that, including postage and together with our Newsletter, this sum is now running at close on £30,000 a year. This money comes from our funds as we have not yet managed to attract a sponsor who will bear the cost - though we keep trying!
RESEARCH
We also aim to sponsor research. However, research is very expensive; not only are there salary costs but also lab costs, material costs and travel costs if papers are written and presented at scientific meetings which may take place not only in the UK but also overseas.
In the past, we have offered grants of £56,000 to cover two or three years work by a researcher. This pays only for a young person's salary by the time the costs of other necessary research materials are taken into account. If we are to really make a worthwhile impression in the field, we need to raise a minimum of £100,000 for each grant so we can offer £30,000 a year for three years for a Post-Doctoral research grant and also pay some of the costs for materials. For this amount, we could attract quality applicants, hopefully at the start of a career based on work involving Neurofibromatosis.
We have also funded seminars into different aspects of Neurofibromatosis which were attended by renowned experts in their respective fields from around the world. The seminars resulted in the pooling of experience which, in turn, has lead to better clinical practice and we hope to continue with at least one seminar into Nf1 each year with another into Nf2 every second year.
ACTIVITY HOLIDAYS
We have been involved in activity holidays since 1996 when we were hosts for the 3rd international summer camp for children with Neurofibromatosis. It was such a success that we held a second in 1997 - and it has become more than an annual event. We have run a holiday for children between 12 and 15 years of age, another two for the 16 - 18 age group and a third for young adults. The aim of these is to offer a safe environment in which young people can learn more about Nf, talk about any problems they may have at school or at home while also enjoying playing football or swimming - or any of a number similar activities that might be on offer.
We have been fortunate in bidding successfully for money from the BBC Children in Need Appeal who have been generous sponsors of the junior events. Approaches are also made to companies, individuals and organisations such as Lions Clubs to help fund each child's place, though, of course, those whose families can afford the fee are expected to pay in full. On the whole, people are very generous.
Through all our projects, we aim to raise awareness not only about both types of Neurofibromatosis but also the work we do to support those affected, their families and the professionals working with them. We are working hard and, with the support of our members and our friends, we hope to achieve our goals.
