The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research.

Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy.

Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference.

Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award (The Peter Carlton Jones Memorial Award) to young professionals as an incentive to develop an interest in understanding the disease. We maintain close contact with those pharmaceutical companies who are developing therapeutic treatments for this group of diseases; this work is supported by a fully funded Clinical Research Nurse who will collect much needed data regarding clinical aspects of the disease, help with patient support and therapy development.

All activities are in support of our aims and objectives and are further supported by the Group’s Development Plan. Sub-Committees provide help, as appropriate, and progress is reviewed at each meeting of the Trustees and employees.

We hold an Annual Family Conference, comprising of adult and children’s programmes and incorporating the Annual General Meeting. The aim of the Conference is to address the needs of families caring for children and individuals affected by Niemann-Pick Disease (NPD). The presentations by specialists in the field of NPD highlight the most recent advances in research and related care issues, enabling delegates to gain a better understanding of the disease. The Conference also provides a chance to strengthen our family network, allowing families affected by NPD to meet and share their experiences. The professionals who attend value the opportunity to talk and share their skills with families and colleagues. We aim to make the Conference an enjoyable experience, one which will be of benefit to the whole family.

Financial control and governance is the responsibility of the Trustees. Capacity planning and the opportunity for personal development ensure that we have the balance of skills required to meet our duties. We constantly monitor and evaluate the services we provide by conducting surveys and encouraging feedback about our activities by post, e-mail or our e-forum.

Increasingly, we look to form alliances and seek international collaboration to strengthen our ability to make a difference and we have secured places on national committees to bring awareness of our plight and to seek support. 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. Making a difference has never been easy but it can and does happen when people work together.