Become a Trustee

My daughter, Hollie, was diagnosed with NPC ) in July 2007 at two years of age. From the very beginning the support and advice my family received from NPUK was invaluable and it became the driving force behind my commitment to supporting the charity’s work.

In 2008 as a family we launched the Hope for Hollie campaign to raise awareness of NPC and generate vital funds for NPUK. In 2014, the campaign evolved into The Hollie Foundation, a registered grant giving charity dedicated to providing financial support to families affected by NPC. Through the foundation, we funded specialist equipment, home adaptions and direct grants to NPUK and NPC research. Over the years, The Hollie Foundation raised more than £200,000. Due to challenges of sustaining fundraising income during the COVID-19 pandemic we made the difficult decision to close The Hollie Foundation in 2021. However my commitment to the Niemann Pick community remains strong. 

I have been a Trustee of NPUK since 2009 and was honoured to take on the role of Co-Chair with Joella Melville in 2022. I see myself as a parent advocate first and foremost; someone who can understand and empathise with the families who are affected by Niemann-Pick diseases. As a co-Chair my aim is to help shape the direction of the charity ensuring we always strive to provide the best possible support for those affected by Niemann-Pick diseases and ensure that nobody feels alone on their journey.

I’ve worked with NPUK in a professional capacity since 2009 and joined as a Trustee in March 2016. In 2022, I became joint Chair with Helen Carter, and in this role, I will be particularly focused on raising the profile of Niemann-Pick diseases both in the UK and at an international level by representing NPUK and our community at scientific conferences, meetings with pharmaceutical companies, drug regulators and other rare disease charities alongside Helen. As well as writing articles and giving presentations to the rare disease community families affected by NPC, doctors, nurses and scientists. Raising the profile of NPUK will speed up the time to diagnosis and allow earlier access to care, support, and treatment, which can have a huge impact on quality of life.

My background is in healthcare communications and I will bring this experience and skill set to the role of Chair, which alongside my enthusiasm to help in anyway I can, I hope will make a true difference to those affected by Niemann-Pick diseases.

I have over 30 years’ association with Niemann-Pick diseases and NPUK. It has always been my primary interest to understand the medical science behind the disease(s), keep abreast of progress and seek effective treatment. It is important to me to have some understanding of what the professionals are doing, to understand the limitations of what is possible and to advise the charity trustees on how best to invest research funding. Having had a daughter with Niemann-Pick diseases, I am acutely aware of the challenges facing other families in relation to the disease.

I have learnt about the significant challenges associated with early diagnosis and treatment of neurological diseases and the need for research into preventative measures. One of these is newborn screening which in the UK, has fallen well behind other nations with similar medical science capacity. This area of research is a parallel activity to development of treatment and will enable treatment to be administered at a time when it has the best chance of success.

In my working career I was involved in engineering and project/programme management, which required considerable exposure to organisational and project management needs in military and commercial environments.

I live in Leeds with my wife, Miriam, and our three children; Sam, Jack and Ellie. My eldest son, Sam, was diagnosed with NPC in 2008 when he was just a few months old, and we have been incredibly well supported by NPUK ever since. As a way of giving back something and to help ensure that others have the opportunity to access the same support that we do I joined the charity’s board in 2010 and in 2016 I became Chair, a role which I carried out for six years until 2022.

The six years that I served as Chair were such a privilege, and it was a huge honour to represent NPUK and our community at community events and rare disease meetings and conferences. I loved getting to know so many of our incredible NPUK community and being a part of creating a positive future for our amazing small charity.

I stepped down from Chair in 2022, with the role being filled by Helen Carter and Joella Melville who I am sure will be incredibly capable in guiding NPUK in our new chapter. I am very pleased to continue to be a part of NPUK as a member on the Board of Trustees.

I qualified as a paediatric nurse in Leeds back in 1981 and since then I have worked in many areas as a senior nurse including; general paediatrics, oncology, bone marrow transplant unit, cystic fibrosis unit, and neonatal intensive care. I completed my honours degree in biochemistry, genetics, and related subjects and hold an MSc in genetic counselling. At the Royal Manchester Children’s Hospital, I became the first nurse for families with Niemann-Pick diseases. Despite retiring at the end of 2011, I continue to support NPUK as a trustee.

Since 2013 I have been actively involved with the International Niemann-Pick Disease Registry and currently lead on recruitment as Clinical Research Manager.

I joined the Board of Trustees as a family member in 2005, and since then I have been committed to supporting NPUK for the benefit of our families and community. I’ve seen, first hand, the positive effect this charity has on people’s lives and I am passionate about further developing the charity by building on our strengths to achieve our goals and meet the challenges of the future.

I was appointed Chair of NPUK in 2011 and since then have worked with the Chief Executive to strengthen the organisation and put in place policies and procedures that support the Good Governance of the Charity. In 2016 I handed over the reigns to the Chair Will Evans but continue as a driven member of the Board of Trustees.

I am extremely proud to be part of NPUK and my background as a senior manager across various operational and strategic development programmes complements the skills of other Trustees. Now retired, these combined skills help to ensure that we make decisions in the best interests of the Charity and in accordance with our aims and objectives for the benefit of our members. I hope you will be inspired by the work we do and be able to create awareness of these life-limiting diseases.

I’ve been a supporter of NPUK for many years and a trustee for most of these. I first became involved with this charity when my grandson was diagnosed with Niemann-Pick Disease Type B (NPB) at three years of age. Ever since I have been working hard to further the work of NPUK in providing care and support for those affected by the disease – this includes my own grandson who is now nineteen years old and off to university!

In 2007 I took on the rather challenging position of Conference Coordinator, which followed on from my role as Fundraising Coordinator – both of which put my excellent organisational ability and communication skills to good use.

I work for the Pharmacology department at the University of Oxford and joined NPUK in order to further the charity’s understanding of medical research that could potentially have a huge effect on the lives of those affected by Niemann-Pick diseases.

In fact, the studies my laboratory does in understanding and treating lysosomal storage diseases has already had a direct impact on how we understand and treat lysosomal storage diseases such as Niemann-Pick diseases. An example of such an instance can be found in our pioneering of a novel approach to treating inherited metabolic diseases, which led directly to the development of an approved drug (miglustat) for type 1 Gaucher disease.

Currently our lab is focused on N-C, with ongoing studies on the pathogenic cascade, mechanisms of immune activation, biomarker identification and the trialling of therapies in a mouse model of the disorder. We are of course hoping for a positive breakthrough, which will ultimately help every individual affected by Niemann-Pick diseases.

I first became aware of the Niemann-Pick diseases as part of my PhD-project (ca. 2007) where I tried to understand the interplay of heat shock proteins, lysosomes, acid sphingomyelinase and cell death. As part of these efforts, I collaborated with Prof. Konrad Sandhoff and Prof. Ed Schuchmann, but it wasn’t until after the publication of the data in 2010 and an invitation by a certain Professor Frances Platt to present these findings at a Biochemical Society meeting in London, that I became aware of how close the patient organizations, academics and clinician worked together in this field.

We are all in this together. I might not have a relative affected by Niemann-Pick, but since my first NPUK meeting, I have admired and respected the astonishing efforts being done by the NPUK at all levels. The hospitality, the openness, the passion and the perseverance by patients, caregivers, academics and clinicians involved and associated with the NPUK is something very special – it is something that has deeply affected me and kept reminding me of what is important in life. This is a special thing, and I would therefore like to give back to the community as best I can.

I hope that we stay open and keep the culture of helping and supporting each other, whatever our lot in this may be. I hope, and trust, that we together can aid in the development of not one, but several treatments for the Niemann-Pick diseases in the years to come.