ࡱ> "$ !'` "bjbj 48 RRRRRRRf84f"(JJJJ%%%$ph)R%%)RRJJ>jRJRJRRJ Y6oj T0|d||R/%D/3%%%))=R%%%fffJDfffJfffRRRRRR  The Niemann-Pick Disease Group (UK) The Niemann-Pick Disease Group (UK) is a charitable organisation. It offers support and information to families affected by any type of Niemann-Pick disease and to associated professionals. The organisation was formed in 1991, as the 'Niemann-Pick Support Group', by parents, Susan and Jim Green, following the diagnosis of Niemann-Pick Disease Type C in two of their three children. Contact a Family ( HYPERLINK http://www.cafamily.org.uk www.cafamily.org.uk) provided initial support and a small starter grant. In 1993, the Research Trust for Metabolic Diseases in Children (now Climb) ( HYPERLINK http://www.climb.org.uk www.climb.org.uk) also gave their support to help the group form a Management Committee. Jim Green was elected as the first Chairman of the newly formed 'RTMDC Niemann-Pick Group'. The Group flourished under the umbrella of the RTMDC and in 1996 was granted charitable status as an independent charity 'The Niemann-Pick Disease Group (UK)'. What is Niemann-Pick Disease? Niemann-Pick disease is a group of rare, inherited, metabolic conditions most oftenaffecting children, for which there is currently no treatment or cure. There are three recognised forms of Niemann-Pick Disease, Niemann-Pick TypeA, Type B (NPA, NPB) and Niemann-Pick Type C (NPC). NPA and NPB are caused by an enzyme deficiency, causing a build up of toxic materials in the body's cells. In NPA this accumulation occurs very quickly, an affected child will usually die before reaching three years of age. NPB does not affect the brain, and, although growth may be slow, those affected will survive into adolescence or early adulthood, but not without experiencing health problems NPC is not caused by an enzyme deficiency, but the end result is the same; an accumulation of materials (cholesterol and other fatty acids) in the body's cells. The brain and other organs are affected, leading to progressive intellectual decline, loss of motor skills, seizures and dementia. Speech can become slurred and swallowing problems may develop,in the later stagesthe child will be bedridden and tube-fed. Affected children do not usually survive into adulthood. The Board of Trustees The NPDG (UK) is managed by a Board of Trustees consisting of parents of affected children and their friends. The Trustees volunteer their time to achieve the aims of the organisation. The NPDG (UK) provides support in the three main areas of Care, Information and Research. Our objectives are: to provide a support and advice service to families affected by NPD to disseminate and share relevant information to provide support for a national clinical centre for Niemann-Pick Disease to promote national and international collaboration in the field of NPD to promote relevant research into Niemann-Pick Disease and its treatment The Group also has a number of distinguished Patrons who lend their support to our work. The Central Office of the NPDG (UK) is based at 11 Greenwood Close, The Pastures, Fatfield, Washington, NE38 8LR. A 24-hour contact number is also situated here. The Office is staffed by our Executive Director, Toni Mathieson and our Administration Officer, Sue Lowe. Medical Adviser to the Group is Dr Ed Wraith, Consultant Paediatrician, Genetics Unit, St Marys Hospital in Manchester. The Group funds the salary of a Clinical Nurse Specialist for Niemann-Pick Disease, Jackie Imrie and a Clinical Research Nurse, Liz Jacklin. Jackie and Liz work alongside Dr Ed Wraith at St Marys Hospital. Members of the NPDG (UK) have assisted in the formation of other Niemann-Pick Disease Groups in the USA, Germany, France, Italy, Spain and Poland. In addition to giving support via the NPDG (UK) Central Office, we publish various information leaflets, a Family Directory, an E-News Bulletin and a regular Newsletter. 1,000 copies of the Newsletter are circulated to families, friends, funders and professionals. An Annual Conference is held, as well as a number of Clinic Days per year at the Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital. Funding The Group relies solely on membership fees, voluntary donations, fundraising events and charitable grants for its income. In 1999 we successfully applied for a grant from Children in Need to fund the salary of a Specialist Niemann-Pick Nurse- now our Clinical Nurse Specialist In 2000 we received funding from the National Lottery Charities Board to fund research at Addenbrookes Hospital, Cambridge into the possibility of gene replacement therapy for Niemann-Pick Disease Type C. Also in 2000 the Alzheimer's Society gave us our first partnership grant for Core Funding to enable us to employ a part-time administrative assistant to aid the work of the Group. This initially covered set up costs, running costs and salary for one year. The Alzheimer's Society very kindly agreed to continue this funding until 2005. In 2003 the NPDG (UK) received core funding from the Department of Health to employ a Development Manager to take forward the work of the Group; the funding was for a three year period. In 2005 we received continuation funding from Children in Need, to part fund the post of our Clinical Nurse Specialist for three years. In 2007 we successfully secured grant funding from The Foyle Foundation, to part fund the posts of Clinical Nurse Specialist, Executive Director and Administration Officer. In 2008 and 2009 the travel expenses of the Clinical Nurse Specialist will be part funded by a grant from The Roald Dahl Foundation. In 2009, the work of our Clinical Research Nurse will be supported by a grant from the London Law Trust, and we are very pleased to receive further funding from Children in Need to part support the post of our Clinical Nurse Specialist until 2012. We are grateful to all of the above organisations for their support of our work. As you can see, NPDG (UK) has enjoyed some success through community and informal fundraising and we have a proven track record of partnership funding with other grant-making trusts. An element of work for the Executive Director, in partnership with the Board of Trustees, is the development of a succession and forward strategy, as well as a robust funding strategy, which will include the diversifying of income and increasing of informal fund-raising. If in the future there continues to be a need for support towards costs, then it will be the role of the Executive Director to seek new grant funding, from other sources, to reflect the needs of the organisation at that time. We have come a long way since the Group began, but we still have a distance to travel before a cure for Niemann-Pick Disease will be found. We have made many friends along the way and treasure them all! 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