NiemannPick UK Louise Metcalfe and Steve Neal Breaking

NPUK What is Niemann-Pick Disease? § A group of rare, metabolic conditions that are pan-ethnic and affect all age groups § Autosomal recessive inheritance § § Part of the group of Lysosomal Storage Disorders. § Three commonly recognised forms; Types A, B and C. § Types A and B are a continuum of the same disease, known as Acid Sphingomyelinase Deficiency (ASMD), prevalence estimated as 1: 250, 000 § Type C is genetically and biochemically different prevalence estimated at 1: 100, 000 in Western Europe § Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

NPUK Who is NPUK? Making a difference for the Niemann-Pick community © 2016 Niemann-Pick

NPUK What do we do? § Care, support and advocacy § Accurate, up to date information § Expert advice - dedicated Clinical Nurse Specialist § Practical and Emotional Support § Reduce social isolation § Families Officers (non-clinical support) § NPUK Central Office Team: 24 Hour Help-line § Awareness § Interactive Support, strong social media presence § Mutual support networks and opportunities § Annual Family Conference Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

NPUK Facilitating Research o Promote, encourage and facilitate research o Develop and nurture relationships: - Research and clinical institutions - Industry - Like-minded patient groups - Stakeholders and influencers o Interactive Workshop on Niemann-Pick Disease o Annual Trustee Memorial Award o Small seed grants and bridge funding o Projects funded at Oxford, Cardiff, Sheffield and UCL o Key role in many NPD research collaborations Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

NPUK International Niemann-Pick Disease Registry o Global NPD Network o 14 Member countries o 4 Associate members o o o o NPD Specific Registry Patient owned and led Developed over a three year period Collaboratively Funded Patient Reported Data Clinical Dataset Retrospective Data Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

NPUK Working Collaboratively

Shaping our Future Together 1. 5 Year Big Lottery funded grant for £ 447, 108 allows us to help more people affected by a NP diagnosis, especially the increasing number of adults diagnosed with NP-C after our ‘Think Again, Think NPC’ campaign. 2. On-going practical and clinical work and support. 3. Reach out to the newly diagnosed. 4. Understand the needs of the BME community, Dads and Siblings. Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

Shaping our Future Together Our 4 Outcomes 1. The mental wellbeing of adult, newly diagnosed and hard to reach patients and families will be improved. 2. Patients and families will benefit from increased emotional resilience in coping with the impact of disease progression. 3. Patients and families will have increased knowledge and self -confidence when dealing with health and statutory services. 4. Families in crisis will have greater access to statutory services through the intervention and support services provided by NP-UK. Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

Shaping our Future Together Who will we help? • • • 58 affected patient children 116 parents and carers 84 siblings 63 adult patients 32 children of adult patients 225 other family members 578 people in total Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

Understanding our BME Community • We want to build relationship and trust from diagnosis onwards so more BME families to attend our events and use our support services – reducing isolation. • We want to develop community specific literature, devise video resources – including genetic and bereavement counselling. Making a difference for the Niemann-Pick community © 2016 Niemann-Pick UK (NPUK)

Louise Metcalfe Project Team Leader, NPUK T. 0191 415 0693 Email: louise@npuk. org Steve Neal Project Families Officer, NPUK T. 07787 818885 Email: steve@npuk. org Niemann-Pick UK (NPUK) Suite 2, Vermont House Washington Tyne and Wear NE 37 2 SQ, UK © 2016 Niemann-Pick UK (NPUK) T. 00 44 (0)191 415 0693 info@npuk. org Registered Charity: England Wales (1144406) Scotland (SCO 45407) Please visit npuk. org For the most up-to-date information Making a difference for the Niemann-Pick community