Toni Mathieson’s relationship with Niemann-Pick UK (NPUK) began in 2003, in a very personal capacity, before she joined as CEO two years later. It is her initial experience with the charity and the incredible support she received that she draws on now in her professional role. A dedicated advocate for Niemann-Pick diseases both in the UK and internationally, and for lysosomal storage disorders, she talks to RARE Revolution about the challenges charities such as NPUK are facing and her hopes for the future

CEO Series: meeting the beating hearts behind the RARE brands

1.

What made you want to move into the wide world of rare disease and genetics, and then specifically the charity Niemann-Pick UK and what did that journey look like?

Like many patient advocates, I came into the field of rare diseases through personal experience. Our first daughter, Lucy was diagnosed with Niemann-Pick type C in 2003 at just five weeks old, and life was forever changed. A short time later I left my career in human resources and became immersed in all things rare.

Niemann-Pick UK (NPUK) provided much needed support during those difficult first few months and in the following years when Lucy’s brother and sister were also diagnosed, and passed away, from the same condition. In fact, without the support and friendship I have received from this community, I am not sure where I would be today.

I joined NPUK professionally when Lucy was two years old, bringing not just professional skills, but also a true understanding of the challenges faced by patients and their families.
We lost Lucy in 2007, at just four and a half years old. My time and experience with my children and as part of the Niemann-Pick community, gave me the resolve to continue my work and to try to make a difference for others affected by rare diseases.

As well as my ‘day job’, I represent NPUK in their collaborative work with UK and International institutions, like-minded patient groups and industry.  I am honoured to be the UK representative for the International Niemann-Pick Disease Alliance, a network of 21 patient groups in 17 countries. As a Trustee of the International Niemann-Pick Disease Registry (INPDR), I am committed to supporting the development of this innovative, patient-empowered registry model.

I am grateful to have the opportunity to work with the CEO’s of seven other UK patient organisations as Chair of the UK LSD Collaborative. Together we support and advocate on behalf of patients and families affected by 30+ lysosomal storage disorders. This incredibly supportive network has benefitted my own professional development and I now volunteer my time to support other patient groups in reaching the next stage of their own journey.

2.

What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

One of the greatest challenges for us all at present is the uncertain political landscape and the accompanying potential implications for research, access to therapies and collaborative working. Add to that reduced social and welfare services, a changing benefit system and a lack of respite care, and the needs of our patient community have never been greater.

Patient organisations like ours are facing unprecedented challenges to their future sustainability at a time when demand for our services has never been higher.  Grant and funding opportunities are narrowing and this trend is set to continue. This offers the opportunity to consider closer collaboration and ways in which we could maximise the scarce expertise and resources that exist in this field.

3.

What is your proudest moment in your career thus far?

4.

What and who are your personal and professional inspirations and why?

My children will always be the inspiration behind my work; on tough days, their memories keep me going.
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I feel privileged to be a part of the Niemann-Pick community, to share their stories and follow their journeys. I never fail to be inspired by their bravery as we walk together from diagnosis, and too many times through bereavement, and beyond. We still have a long journey ahead, but we will make it together, one step at a time.
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Professionally, the tireless dedication of my counterparts within the LSD Collaborative and wider rare disease field, whose friendship, understanding and support has been second to none.

5.

What advice would you give someone considering working in the rare disease and genomic space?

​I would say that working in this field is not your usual nine to five, as a CEO of a small organisation you wear many hats and there is always something new to learn. Take time to truly understand the views and needs of the community you support, and to recognise that these can change over time. This field is highly rewarding and incredibly inspiring, but be prepared, as it can also be emotionally challenging.  

6.

Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

Raising interest and understanding of the challenges faced by rare disease patients, and gaining wider support, is a priority. At a local level, with changes and cuts to services and the welfare system, the scale of financial, social and emotional issues in rare communities is increasing. The Coronavirus pandemic has brought new and unexpected challenges, highlighting the desperate need for effectively resourced and consistent services.

I would like to see greater recognition for patient organisations, as professionals and experts in their specific condition. With our community knowledge and connections, we are best placed to influence the care and services available to our communities and can play a major role in the development of therapies by working to positively influence research, clinical trials and regulation.
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The slow speed of research and trials, coupled with the issue of access to new and innovative therapies is a huge frustration. It is one of the many common challenges shared by rare disease families, including delayed diagnosis, a lack of local services and difficulty accessing respite care.  This is an area where the unique experience of patient advocacy leaders could have a significant impact.  By working together and in consultation with our communities, industry and NHSE, we could influence the processes involved and improve experience and outcomes for patients.

7.

What would you say are some of the biggest motivators for your employees and volunteers? 

Working with and being part of our community. I am constantly amazed by the effort, drive and determination of our staff team, a truly dedicated and compassionate bunch who go and above and beyond for our patients and their families.  Many of our volunteers have been with us longer than I have, providing amazing support to our community year after year at events and much more. They are an important and greatly valued part of our team.

Our Board of Trustees is highly active and passionate about their work. Many have family members or friends directly affected by Niemann-Pick diseases, bringing a true understanding of the impact it can have upon a patient and their family. 

8.

What are the toughest parts of being a CEO, and conversely what are the most rewarding? 

The toughest part is not having all of the answers. I vividly remember my first conversation with Niemann-Pick UK as a parent.  I remember the desperate need for answers and the fear of what the future might hold. I wanted to know what treatments were available, what was being done to find a cure, or to prevent this disease in the future. Although there were no easy answers, I was left with a sense of hope and the feeling that we were no longer alone in coping with this rare condition.  
 
I hold these thoughts in my mind when I speak with families today. Being able to relieve anxiety and to provide a sense of community would be most rewarding and I hope we achieve this, even in a small way. 

9.

What would be your one wish for Niemann-Pick UK for the year ahead?

My one wish would be to see the unmet medical needs of our community addressed. Although I accept that this might take more than a year!
Continuing our work to influence and inform trial design and therapy development, plus support of the International Niemann-Pick Disease Registry (INPDR), will hopefully bring us closer to this goal.

10.

If you weren’t CEO of Niemann-Pick UK what was Plan B?  What did your 10-year-old self-want to do as a job?