Niemann-Pick UK (NPUK)

Proud to be part of this campaign!

Our Clinical Nurse Specialist, Laura Bell, has been an integral part of our team and a cherished presence in our community for over 12 years. Her dedication, compassion, and expertise have touched the lives of so many and provided vital support as we navigate life with Niemann-Pick diseases ❤️ Therefore, with mixed emotions, we share the news that Laura will be moving on to a new chapter at the end of this month. We realise this may come as difficult news. We understand that Laura has been an important part of your lives, and that she will be greatly missed. “…it is with a heavy heart that I write this after a wonderful and amazing 12 years with NPUK, the time has come for me to bid farewell. It has been an incredible journey caring for each and every one of you, and I am grateful for the trust and confidence you have placed in me…” - Laura Bell This change coincides with the end of NPUK’s long-term partnership with the Northern Care Alliance (formerly Salford Royal Foundation Trust), which has brought significant and multiple benefits for patients and families affected by Niemann Pick diseases. We have greatly valued this collaboration and the decision to end it was not taken lightly. It follows a comprehensive review of our strategic priorities and considers the provision of nurse specialist services at each of the designated NHS England Highly Specialised Centres providing care for our patient community. You can read the full statement at the NPUK website here: https://lnkd.in/ebwX3_2d Laura has also personally penned a heartfelt message to both patients and families in the community, which you can ready here: https://lnkd.in/eCHU5Pdd... Laura has brought so much warmth and professionalism to our team, and we encourage everyone to join us in celebrating her many contributions. We are forever grateful for the care, compassion and kindness she has shown. If you have any questions or concerns during this time, please don’t hesitate to reach out to us by email [email protected] or telephone 0191 415 0693. #staffteam #clinicalnursespecialist #support #community #progress #NiemannPickUK #NPUK

"...NPUK offers care, support and information to families affected by Niemann-Pick diseases from diagnosis to bereavement and beyond and raises awareness in the hope of facilitating research and potential therapies. Their vision is a world where the burden of these diseases is minimised, where those affected have access to effective therapies, can meaningfully participate in society, reach their full potential, and achieve the best possible quality of life..." Thank you to LDA Research Ltd for showcasing some of our recent work in the following article which includes an overview of our charity's history, an insight into the National Institute for Health and Care Excellence (NICE) appraisal of Xenpozyme (Olipudase Alfa), and information on our upcoming awareness piece "Beyond the Stigma". You can read the article in full at the link on this post - we encourage our community to share widely ❤ #awareness #raredisease #charity #NPUK

Colin Farrell Opens Up About His Son With Angelman Syndrome | Rare Genetic Conditions Awareness ❤️ In the following video Colin Farrell opens up for the first time about life with his 20-year-old son, James, who has a rare debilitating disorder called Angelman syndrome. He also talks about why he's starting a foundation to help adult children with similar disabilities prepare for greater independence. The Colin Farrell Foundation will provide support for adult children who have intellectual disability through advocacy, education and innovative programs. Of course this is not related to Niemann-Pick, but Angelman does share some characteristics (developmental and speech delays, ataxia, seizures etc.) with NPD. We think it's fantastic that Colin is opening up to raise broader awareness on this level, after all he's a public figure but a Dad first and foremost...this is what we need as a community! #raredisease #rarecondition #awareness

Here's a little sneak peek at what we've been up to earlier this week...namely recording footage for our upcoming short documentary piece, 'Beyond the Stigma' (TBC), which looks to challenge negative labels surrounding rare disease and disability. We thank Ebony for being so open and honest on this challenging topic - we look forward to sharing it with the world, and seeing the conversations it may create ❤️ Director: John Lee Taggart Featuring: Ebony Samuda & Amarii Newland Interview by: Steve Neal Assistant Producer: Rares Danciu Voiceover Agency: Sue Terry Voices Narrated by: Francis Lovehall #community #collaboration #shortdoc #doc #stigma #labels #support #family #raredisease #niemannpickuk #npuk

We are looking for a new Treasurer! ❤ NPUK (Niemann-Pick UK) is dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases & their families, from diagnosis to bereavement & beyond. Niemann-Pick diseases (NPD) are rare, progressive, inherited genetic conditions for which there is no specific treatment or cure. We are a small but agile organisation, globally recognised for our world class communications, strong advocacy networks, and high impact partnerships with relevant stakeholders. Our vision is a world where the burden of these diseases is minimised, where those affected have access to effective therapies, can meaningfully participate in society, reach their full potential, and achieve the best possible quality of life. We are seeking a new Trustee Treasurer to join our supportive and engaged Board. The Treasurer will oversee the financial matters of the charity in line with best practice and in accordance with our governing document, plus relevant statutory and legal requirements. Further information and details of how to apply can be found at the link below: https://lnkd.in/eyhXFJyi #trustee #community #NiemannPickUK #NPUK

Huge thank you to our friend from the National Niemann-Pick Disease Foundation, Inc., Gail Capp, for sending this photo from the Johnathan’s Dreams 2024 Fundraiser - The 15th Annual Fight NPC "Childhood Alzheimer's" ❤ Featuring Mum Nadia Slatch's words, this placard remembers her beautfiul son, Zayn (28/10/12 - 10/04/17, NPC) and joins several others in a touching tribute that keeps memories alive as well as our hopes for the future. Learn more about the event at the link below: https://lnkd.in/eb-58HS8 #awareness #raredisease #alzheimers #niemannpick #NPUK #NNPDF

Such a proud moment as Niemann-Pick UK community member and INPDR International Niemann-Pick Disease Registry Ambassador, Graham Kirk (NPC), scoops the ‘Best Education Film’ award for his short documentary ‘Invisible Interviews: Graham’s Story’, at last night’s Cannes Film Awards 2024 🥇 Despite being made on a limited budget in-house we are pleased to see Graham’s film continues to make waves and raise awareness, thanks in no small part to the small team involved; Shiela Reid, Lingxi Zhang, Stephen Perryman, John Lee Taggart, and of course Graham Kirk, as well as many others. Well done all and thank you Cannes Film Awards! You can check out the other winners, honourable mentions and nominations at the link below: https://lnkd.in/ejp4x3_y For those who haven’t watched the short yet, you can view it on our YouTube channel below (along with three more episodes in this interview series): https://lnkd.in/eFxMqhP6 We hope Graham and Ciara enjoy the rest of their trip, they deserve it! We expect to see some great pics as the main Cannes Film Festival sets up 📸 #cannesfilmawards #cannesfilm #cannes #shortdoc #film #awareness #raredisease #careaboutrare #sheilareid #NiemannPickUK #NPUK

DID YOU KNOW? Rare Diseases affect approximately 3.5 million people in the UK. "...rare diseases are those affecting less than 1 in 2,000 in the population. Although rare diseases are individually rare, they are collectively common with one in 17 people being affected by a rare disease at some point in their lifetime. Approximately 3.5 million people in the UK are living with one of over 7,000 rare diseases, such as muscular dystrophies or Huntington’s disease. People living with rare diseases often face challenges with the health and care system. The National Conversation on Rare Diseases received nearly 6,300 responses and helped us to identify the four priorities of the 2021 UK rare diseases framework: faster diagnosis; increased awareness of rare diseases among healthcare professionals; better quality of care; and improved access to specialist care, treatment and drugs..." England Rare Diseases Action Plan 2024 Volume 746: debated on Thursday 29 February 2024 https://lnkd.in/enKxgcQ8 With so many people collectively affected by rare diseases, we often wonder why we seemingly face such an uphill struggle to gain support, raise awareness, and make positive progress on behalf of our shared patient community. But then we also think of the strides we HAVE made since our charity was founded over 30 years ago...all of which has only happened due to the tireless advocates, volunteers, and fundraisers who have supported us...who despite the above challenges carried on. Then we get back to work ❤ Thank you to everyone who supports us #togetherwearestronger #raredisease #awareness #support #NiemannPickUK #NPUK

Last weekend, our CEO Toni Mathieson travelled to Fulda in Germany at the kind invitation of Niemann-Pick Selbsthilfegruppe (NPS) ✈️ Toni said "I was delighted to be asked to speak at the NPS Family Conference, it was wonderful to meet families from Germany, Switzerland and Croatia, to spend time with old friends and to make so many new ones. Huge thanks to the NPS team for organising not only a fantastic event but for the sun to shine down on us all too!" Through our collaborative work with both INPDA International Niemann-Pick Disease Alliance and INPDR International Niemann-Pick Disease Registry, of which Toni is a leading figure, we push both nationally and internationally for positive progress and accelerate towards our shared goals. Learn more about International Niemann-Pick Disease Alliance (INPDA) here: www.inpda.org Learn more about International Niemann-Pick Disease Registry (INPDR) here: www.inpdr.org #support #community #progress #NiemannPickUK #NPUK