How We Can Help

NPUK provides a unique care and support service to families affected by Niemann-Pick disease. The service has been developed over a number of years and is closely monitored to ensure that each activity is of value and benefit to the community we support.

Our staff team are available to offer advice and support regarding all aspects of Niemann-Pick disease, to provide reassurance or just a friendly voice at the end of the phone. Some of the services we provide include:

• A 24-hour helpline – 0191 415 0693
• Access to advice on all aspects of Niemann-Pick disease
• Our Clinical Nurse Specialist (Laura Bell) who provides expert care and practical advice, plus home visits whenever necessary
• Our Senior Families Advocate (Elizabeth Davenport), and Project Families Officer (Steve Neal) who provides non-clinical advice and information, offering an individual advocacy service which includes home visits and assistance at clinic appointments.
• An Annual Family Conference providing networking opportunities for families and professionals
• Regional family meetings, events and fun days throughout the year (some of our past events include trips to Chester Zoo, Longleat Safari Park and Legoland)
• The organisation of clinic days for children and adults
• Counselling and advocacy services for individuals and families
• Bereavement support and counselling

Learn more about ‘Our Care and Support Services’ in our official brochure below, available for download in full here.

NPUK recognises the need to provide current and relevant information regarding all aspects of Niemann-Pick disease.  We produce a wide range of informative materials and educational resources to assist families and professionals in dealing with all aspects of the Niemann-Pick disease.  These are regularly updated to reflect the changing needs of those we support:

• Information packs specific to each type of the disease
• Regular newsletters and e-bulletins
• Educational information booklets regarding all aspects of Niemann-Pick disease
• Website hosting information, films and downloable content and resources
• Specialist information for health and social care professionals

NPUK’s Board of Trustees is made up of people who have family members or friends directly affected by this group of diseases. We understand the urgency to find effective therapies and the fact that progress never seems to be fast enough. This understanding is at the heart of our research strategy. Facilitating progress towards therapeutic interventions for Niemann-Pick diseases is central to everything we do at NPUK and has been since the organisation formed in 1991.

We actively encourage Niemann-Pick disease research through the relationships we foster and the networks we contribute to. By sharing knowledge and expertise and by working together, we believe progress will be even faster. In addition, we actively pursue opportunities to facilitate research and clinical trials here in the UK.

• We facilitate the collection of much-needed data regarding clinical aspects of the disease
• We maintain links with pharmaceutical companies and researchers regarding the development of therapies and treatments for this group of diseases
• We provide a Trustee Memorial Award for scientific submissions by young professionals showing an interest in Niemann-Pick diseases
• We collate and distribute current research news and developments
• We support and encourage Niemann-Pick research by making grants available to laboratories working on this group of diseases

Every year we hold an Annual Family Conference which offers you the opportunity to hear the latest developments from around the world, with presentations by experts in the field of Niemann-Pick diseases providing an overview of the latest information regarding research, therapies and related care issues, plus breakout sessions and workshops tailored to your needs. It also provides an opportunity to network with other families and professionals from around the world – here is just a small glimpse into the atmosphere that makes it so special:

We are pleased to announce that registration for our first virtual event, the NPUK Annual Family Conference & Interactive Workshop on Niemann-Pick Disease 2020, is now open. Despite the disappointment we all understandably feel about not being able to hold the meeting in person, we are confident that the programme we have developed will be a worthwhile experience for our community; with the same world-renowned speakers, the same dynamic content, and many of the same opportunities for interaction between families and professionals that we have offered for over 25 years. You can register for the event at the link, here.

Big Lottery Fund Grant Success for Niemann-Pick UK

We are pleased to announce that we have been awarded a grant from the Big Lottery Fund Reaching Communities Programme – a great achievement for us as an organisation! Our focus is to ensure that our project, ‘Shaping our Future Together’, is delivered with positive impact and has lasting benefits for those we support.

We would like to thank the Big Lottery Fund for choosing to support our organisation with the grant, which covers a period of five years and gives us the fantastic opportunity to enhance our current support service with this new project.

Building on a previous grant from the Big Lottery Fund Reaching Communities Programme for our “Family Care and Interactive Support Project”, we will further develop our services for those affected by Niemann-Pick diseases, their families and the wider community, from diagnosis and beyond.

The grant will enable us to develop our support and outreach services for the increasing number of adults diagnosed with NP-C arising from our ‘Think Again, Think NPC’ campaign, to further enhance support for newly diagnosed patients and their families, engage more effectively with dads, siblings and BME members of our community and also to continue to develop our genetic and bereavement counselling services. In addition, we will be able to expand use of interactive technology, such as iPad’s, to our adult community, helping to improve access to advice and information from our Clinical Nurse Specialist and their own health care team. In particular, we have found that this helps those who may feel isolated, or who are struggling with the challenges associated with Niemann-Pick disease.

To support the delivery of the Project, we are pleased to introduce a new member of staff, Louise Metcalfe, who is assisting in the positive delivery of the project aims.  Louise has taken on the role of Project Team Leader and tells us: “It’s been great to get to know my new colleagues, NPUK trustees and of course our community, as well as contributing to the on-going success of this incredible charity.” Louise brings with her a range of skills gained from a varied background working in social policy, child poverty and most recently with young homeless people.

Louise adds: “Having two disabled children of my own has made me very familiar with the myriad of challenges faced on a daily basis and the impact this can have on every aspect of family life. I hope to bring this understanding to my role”

The Project will help us to increase our overall focus on advocacy work, provide greater geographical coverage and offer wider access to bereavement counselling.

NPUK Executive Director Toni Mathieson said: “It is fantastic as a small organisation, to have our work recognised and supported by the Big Lottery Fund. The grant will enable us to further develop our services to meet the needs of families and individuals affected by the rare and life-limiting condition Niemann-Pick Disease, bringing hope and encouragement to this community.”

If you or your family members are interested in participating in this project, or in learning more about it, you can contact the NPUK Central Office by email at: info@npuk.org, or by phone on: 0191 415 0693 or contact Louise direct louise@npuk.org