Meet the NPUK team who are responsible for the day-to-day running of the charity and providing the much-needed care and support, you can also learn more about them here.
I became involved with NPUK back in 2003 after receiving the news that my beautiful daughter Lucy, then just five weeks old, had Niemann-Pick Disease Type C (NP-C). I received amazing support from the charity during those difficult months, and in the following years when Lucy’s brother and sister, Hannah and Samuel, passed away from the same condition. In my role as Chief Executive, I use the empathy and compassion from my personal experiences to provide hope for other families affected by Niemann-Pick disease.
As Clinical Nurse Specialist for Niemann-Pick diseases, I am always available to offer support and advice to you and your family regarding any aspect of Niemann-Pick disease, plus home visits whenever necessary.
You can contact Laura using the details below:
Laura Bell (BSc Hons Nursing) Email: email@example.com or firstname.lastname@example.org
Tel: 0161 206 0228
Mobile: 07791 499 555
As Senior Families Advocate, I offer non-clinical advice, information, and support to suit each and every person’s individual needs. I understand the struggles of families who are dealing with Niemann-Pick disease and am here to support you and your family.
or telephone: Landline: 01904 438589
Mobile: 07896 197576
NPUK recently received a 5 year grant from the Big Lottery to deliver more support to, and strengthen the resilience of, patients, parents, siblings, carers and other family members affected by Niemann-Pick disease. In my role as Project Team Leader I ensure we keep on track with the grant project so that everyone is better equipped, both emotionally and practically, to deal with the challenges a diagnosis of a Niemann-Pick disease brings.
I help define the charity’s content writing and social media strategy, as well as designing and producing our printed and online publications. It feels incredible to part of a group who are completely devoted to helping those affected by Niemann-Pick disease. I am hoping through my work we can reach a far wider audience so that more people are aware of these conditions.
I've been working for NPUK for almost five years and in that time I have witnessed firsthand the direct impact that our charity has had on people’s lives. From fund-raising events to research grants, we are always striving to do as much as we possibly can.
My family and I have been a part of the NPUK community for a number of years as my mother is affected by NP-C. Knowing someone is there to call and talk to when trying to manage the challenges of this condition makes a massive difference. This has given me a great passion to help other families, and in my role with NPUK I will be dedicated to offering care, support and guidance.
Mobile: 07787 818 885
Kim Stratton, Chief Executive Officer at Orphazyme, commented, “We are delighted with FDA’s decision to grant Breakthrough Therapy Designation to arimoclomol for NPC. Arimoclomol has been shown to have a clinically meaningful effect on disease progression in NPC that is further supported by a biomarker effect indicating an effect on the biological underpinnings of the disease and a favorable safety and tolerability profile. We are committed to bringing this product to patients as soon as possible. Breakthrough Therapy Designation is designed to expedite the development and review of products for serious diseases with the direct involvement of senior staff and we look forward to working closely with the FDA to further advance arimoclomol. Our preparations for filing in the US are underway and we are on track to submit a New Drug Application in H1 2020.”Read more