Blog Archives

Eric Dube Ph.D. of Retrophin

30/6/2020

Eric Dube Ph.D., understands the fear and uncertainty that can come with a rare disease diagnosis, and it is this personal insight and understanding that he brings to the role of CEO of Retrophin. He talks to RARE Revolution about the unique contribution the rare disease patient makes, and about his company's mission to support diversity and ensure all patients have the same access to information, clinical trials and treatments

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 then specifically Retrophin and what did that journey look like?

I’ve had the opportunity to work in a number of therapeutic areas including oncology and respiratory with some exposure to rare disease in both, and I have found my mission in rare disease.

Earlier in my life, I was diagnosed with two rare cancers that had no approved therapies. Fortunately, the cancers were caught early, but I felt the fear of not having a treatment. This gave me an understanding of this industry’s purpose.

It also took me a long time to feel comfortable being my authentic self, so I show up to work as real as possible and encourage others to do the same. Part of my authentic self is a driving desire to help patients and their families—this is one of the many reasons why Retrophin is such a good fit.

Our culture is founded on Our Why which strives to connect each person’s purpose for being in this industry, with our company mission of delivering treatments to people living with rare disease. Importantly, it enables me to discuss at every level of our organisation the impact our decisions and actions have on patients.

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

I believe that one of our biggest challenges is also one of our greatest opportunities. At Retrophin, many of our employees, including myself, come to work each day because we are rare disease patients, survivors, caregivers or have in some way been touched by rare disease. This gives us a unique insight into the needs of patients within our communities. One of the challenges that we have identified is the lack of equitable access to information, clinical trials, diagnosis and treatments for diverse patients in the rare community.

This is also where our opportunity lies. We are advancing Phase 3 clinical programs for rare kidney diseases that affect a high proportion of Black, Latinx and Asian patients. As we continue our efforts to understand every patient’s journey and build upon our efforts to have our organisation reflect our patients, we have an exciting opportunity to not only raise awareness of these inequities, but also provide improved access to information and medications, if successful.

We will also take the opportunity to build momentum behind collaborations that champion diversity and inclusion in our broader industry, so that all patient voices can be heard.

3.	What is your proudest moment in your career thus far?

Earlier in my career, I moved from the US to my first international assignment in Japan. I had to quickly learn the language, culture, marketplace and diagnose the reasons for performance gaps for a declining business. After facing early failures, I had to reset my expectations and what I thought it took for business success and learn from the ground up. After suspending my judgement about work culture and customer insights from the US, and spending countless hours learning Japanese, I helped lead the organisation to one of the most successful launches in the company.

However, my proudest career moment to-date has been taking the opportunity to lead Retrophin into its next phase of growth. We have an incredibly strong organisation with a deep, purpose-driven culture. We are set apart by our unique understanding of the patients we strive to help each day, and by the way we collaborate with the rare disease community to make decisions.

Joining advocacy leaders from IgA Nephropathy Foundation of America, International Cystinuria Foundation, and NephCure Kidney International in Washington, D.C., for Rare Disease Week on Capitol Hil

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

I continue to be inspired by my grandparents. They taught me so much about the importance of education, giving back to your community, and embracing the differences of others. Much of who I am as a person and as a leader is a reflection of how they helped to raise me. My grandmother is also one of the funniest people I know, so I am always reminded to laugh.

5.	What advice would you give someone considering working in the rare disease space?

My advice is, actively seek out and listen to patients, and make sure you have a strong sense of resilience. Often, there is no clear path laid for drug development, clinical trial design, or reaching the patients who might be affected. Working in rare disease very much echoes the uncertain path that many rare disease families are on. There are few answers and many uncharted paths. It requires persistence, patience, and a tremendous amount of hope.

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?

There has been progress at the federal level that will make a difference for rare patients. The 21st Century Cures Act, Advancing American Kidney Health Executive Order, the CARES Act, public-private research collaborations, proposals to provide a caregiver tax credit, and expansion and standardisation of newborn screening are steps in the right direction. We must continue to work with policymakers to improve access to care for all people facing rare disease, and to dissolve the systemic health disparities faced by diverse populations in the US. The COVID-19 pandemic has made it even harder for rare patients and caregivers. While we can be cautiously optimistic about some legislative changes, we will not pause in advocating for our patients and their caregivers. There is so much work to be done on a policy level to ease the diagnostic journey for rare patients, to advance treatments for rare diseases and to improve access to care.

7.	What would you say are some of the biggest motivators for your employees?

Retrophin team members get excited and find great purpose when people living with rare disease come to our office and talk to us about their experience and share their incomparable insight and expertise.

Rare disease advocates from NGLY1.org, National Center for Advancing Translational Sciences, and R&D team members from Retrophin

Grace Whiting of National Alliance for Caregiving with Lillie and Carrie Enicke, rare kidney disease advocates, showing their stripes on Rare Disease Day 2019 at Retrophin

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

One of the toughest parts of being a CEO is dealing with a setback when it means that a treatment may not get to a patient community with significant unmet needs. Last year, our lead development candidate for a severe rare disease with no approved treatment unfortunately did not meet its expectations in a clinical trial. Making the exceptionally difficult decision to discontinue further development was one of the toughest things we have had to do as an organisation, as it meant we could no longer offer hope of a treatment for this community.

I believe great cultures are best understood in the face of failure or setback. I believe our organisation went above and beyond to further support these families and contribute to the understanding of this disease. This included setting a plan to donate the full Phase 3 dataset to academic experts in the hopes of improving the probability of success for other medicines in development for this condition.

9.	What would be your one wish for Retrophin for the year ahead?

My hope is that we can work swiftly to advance treatments for patients living with rare kidney and liver diseases. And that we can help bridge the gap for those who need support and treatment but may not have the access they deserve.

Marc Coronel at Retrophin sharing his experience living with rare kidney disease

Dana Perella, founder of Cookies4Cures, visits Retrophin at Thanksgiving 2019

10.

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

One of my passions is learning and personal growth. Years ago, I wanted to be a professor with a focus on developmental psychology, and the resilience of marginalised communities. My upbringing instilled in me the value of making a difference in society.

To find out more about the work of Retrophin, visit;
www.retrophin.com

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Thomas Ogorka of Orphan Reach

26/6/2020

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Nearly a decade on from when he first founded the CRO Orphan Reach, CEO Thomas Ogorka, recognised the opportunities in orphan product development and made this his company's mission from then on. He talks to RARE Revolution about the challenges faced in developing new products and how supporting rare disease patients is a huge motivator for him and his team

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 then specifically go on to found Orphan Reach and what did that journey look like?

I set up QED Clinical Services back in 2002 as a functional CRO before it was later rebranded to Orphan Reach. From 2011 we noticed that clinical trials were coming in that had not been taken care of very well. When more of these so-called rescue projects came our way, we thought this is not a comfortable situation neither the sponsor nor the patient should find themselves in. Taking over a clinical study in mid-swing from another CRO service provider usually means delays to the study with a cost impact for the company, and other potential downsides, particularly for patients who just don’t have the time to wait. All these rescue projects involved rare disease indications where conventional CROs found it difficult to cope.

We then carefully analysed the gaps, looked at the market and concluded that there was an opportunity for us to make orphan product development our mission from then on. At that point already, around 90% of our trials took place in orphan indications, so it was not too much of a stretch for us to go all the way. However, with no additional investment on board and having to finance our growth using our own means, our journey to where we are today took longer than anticipated.

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

We need to be making sure that we adapt to the ever-increasing demands, regulations, data protection rules, etc. for clinical trials which can potentially all have a negative impact on the speed of which new products can be developed and then made available to patients in need.

On the other hand, we are learning on a daily basis and can implement changes, answering with adequate solutions quickly as long as we are staying as dynamic as we are now. There is a great source of talent out there who want to join companies with more than just business in mind. Being able to support unmet medical needs, to visualize the affected patients and how we can help our clients to bring new therapies to them is a great motivator.

3.	What is your proudest moment in your career thus far?

When we had our Christmas event with the team at the end of last year, giving a presentation, I realised how much we had grown and what wonderful people we have on board. Maybe this moment now comes more to mind as we have not met each other for some time due to the restrictions currently in place. I do really miss the face to face contact.

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

Professionally I am very much driven by my curiosity and desire to improve things where I believe they can make a difference to someone. Also, I do believe in Karma and that whatever good you do in this world will eventually come back to you.
On a personal note, my father always inspired me as in his tough job as a police officer he made sure that the streets were safe and that people in need received the help they needed. The ability to help those in need is something I’ve strived to emulate in my own life, especially through Orphan Reach.

5.	What advice would you give someone considering working in the rare disease space?

Expect the unexpected! We know that clinical trials can be extremely complex involving a lot of different stakeholders who are all working towards one goal: to provide effective therapies to patients with rare diseases. So, if you enter the world of rare diseases, be open to surprises and prepare for a lot of lessons to be learned. As long as you are prepared to learn and adapt, you will feel at home.

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?

There should be earlier and more frequent interactions between regulatory agencies and drug developers including scientific and ethical considerations of clinicians and the patient community. This could help to accelerate the design of non-clinical and clinical programs.

We have seen conditional marketing approvals in the past, but this route should be made broader, so that more drugs with an established safety profile can be conditionally approved to reach patients with rare and rapidly progressing conditions. Patients could benefit from new drugs sooner while post-approval safety and efficacy monitoring will continue to provide the required data.

7.	What would you say are some of the biggest motivators for your employees?

Our employees find their biggest motivation in team collaboration, achieving deadlines and celebrating their achievement together. This all happens on the understanding that patients with rare diseases are much more visible and everyone working at Orphan Reach knows what sometimes is easy to forget: behind the data that we collect to test new therapies are personal destinies, very often children, with little or no hope. If we all work a bit harder, we may help save lives or make life easier for patients and their families.

Nazira Maruf (Our Director of Clinical Operations), Georgia Rose (Marketing Manager) and Thomas at the World Orphan Drug Congress in Barcelona last November.

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

Orphan Reach is a service provider, and as a team we are only as good as our weakest link. It is sometimes tough to say goodbye to someone who we get on with very well, but who may not be the right fit for us.

On the other side it’s great to see team members thriving in their roles and to see them reaching their full potential is a very rewarding feeling.

9.	What would be your one wish for Orphan Reach for the year ahead?

I am sure that I am not the only one wishing that we will hopefully find effective treatments and vaccines for COVID-19, and soon. We have done amazingly well during this crisis but naturally also needed to find workarounds to make things happen in this different world. Once we can manage COVID-19 properly, I can see us working with more innovative biotech companies and serving more patients with devastating diseases and their families, supporting them.

10.

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

I would probably have become a music producer, as firstly I like music and secondly, I like to create something out of nothing. For me seeing the parts coming together one by one, arriving at something which sounds beautiful, fills me with joy and happiness.

To find out more about the work of Orphan Reach please visit;
www.orphan-reach.com

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Jamie O'Hara of HCD Economics

15/6/2020

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Jamie O'Hara founded HCD Economics to combine his career ambitions with his passion for advocacy. He talks to RARE Revolution about the importance of evidence based advocacy in ensuring all rare disease patients have access to the appropriate healthcare, and his drive to establish equity in the healthcare system

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 then specifically HCD Economics and what did that journey look like?

My professional background is in life sciences and health economics. Early on in my career I worked on economic evaluations in areas such as diabetes, rheumatoid arthritis and psoriasis. Looking into the pipelines and evidence generation for haemophilia, it quickly became apparent that the real-world insight into the burden and unmet need was poorly studied and quantified and there was very important work to be done in haemophilia and also in other rare diseases. Consequently, evidence-based advocacy for access to improved medical care in rare diseases required focus and investment.

I am also a severe haemophilia A patient, and am committed to evidence-based advocacy, specifically in support of access to medicines and healthcare provision for patients, like me, who have rare diseases. I set up HCD Economics, eight years ago, so I could dedicate my career ambitions with my advocacy ambitions. We have grown to be a multi-disciplinary Real-World Evidence (RWE) team of 36 excellent colleagues, working across a number of rare diseases, engaged in dozens of types of RWE research and consultancy assignments.

Jamie O’Hara delivering a presentation at the world federation of haemophilia conference in 2018

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

I am passionate to have the opportunity to be involved in establishing equitable healthcare access.
A large part of the cost to our healthcare systems is born out of failed public health policy and in many cases moral hazard. There is a real opportunity to reassert the difference between equity and equality.
All too often rare disease patients are denied appropriate access to health resources due to the confusion between the two concepts.
The challenge is that budgets supporting evidence-based advocacy in the rare disease space will be further constrained moving forward, there is a real risk that rare diseases patients could suffer.

Equality and Equity often get confused, but you can see they are actually two very different things.
Photo: Interaction Institute for Social Change | Artist: Angus Maguire interactioninstitute.org and madewithangus.com

3.	What is your proudest moment in your career thus far?

Aside from this interview… I have enjoyed watching HCD Economics grow, and mentoring staff members who often come to us as graduates, to develop and grow into balanced and respected senior consultants who are able to lead on complex projects and support the communities in which we work.

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

Personal inspiration: my wife and children who have been very supportive during what has been an intense period of development and growth of HCD Economics.
Professional inspiration: I’ve had the pleasure of working with many top-level professionals, from whom I always try to learn to develop a composite of professional principles. These include lecturers from university, previous managers, and patient community leaders and of course the great team I work with day to day at HCD (and Steven Gerrard).

5.	What advice would you give someone considering working in the rare disease space?

Understand that this area works differently from more common diseases, there just isn’t the same evidence and knowledge via the same conventional pathways in rare disease
To properly serve the rare disease communities there needs to be a much more targeted approach to fully understand the complexities of each individual rare disease
Take a more pragmatic approach to truly understand the unmet need and burden of a rare disease as conventional research approaches may leave the story only half told.

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?

It’s clear that for many therapy areas things have improved, however there is still evidently room for improvement.
Health Technology Assessment (HTA)—which is the main point of access into a system for drugs to be accessed by patients, is currently a very rigid framework that doesn’t necessarily fit alongside rare disease complexities. Often rare diseases are life-long which can result in the emergence of a disability paradox. In effect patients and caregivers don’t know of a different reality and are unable to give an objective assessment on the impact of the condition. This is a problem particularly in the UK where we use Quality Adjusted Life Years (QALYs) which can significantly undervalue the benefit of an intervention because of the described paradox.
It would be great to see initiatives that more explicitly utilise Multiple-criteria decision analysis (MCDA) to incorporate rarity/equity paradox.

Jamie O’Hara presenting to patients at the Haemophilia Society conference in 2019, explaining about the disability paradox—the concept that patients with haemophilia perceive their quality of life to be better than externally is it

7.	What would you say are some of the biggest motivators for your employees?

Aside from the monthly pay check….
Working in a research consultancy and having a close relationship with many charities/patient advocacy groups makes the job emotionally as well as professionally rewarding. Each colleague gets to see up close, the impact our research has on these underserved communities.
The technical challenge and the workload are intellectually stimulating (Burden of Illness, time trade off methodology, various technical analysis, discrete choice experiments etc).

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

It never stops but I wouldn’t have it any other way.
The team and the collaborators (University of Chester, Patient representatives and clients), have been based on fun productive solid relationships, as in any business nothing is perfectly smooth, but for the best part it’s a lot of fun and I’ve made many friends along the way.

9.	What would be your one wish for HCD Economics for the year ahead?

For all the staff to be able to get together before the end of the year and enjoy one of our team building days, a nice activity and a curry and beer afterwards.

HCD Economics team on a white water rafting away day

HCD Economics team enjoying a team building afternoon in the North Wales countryside

10.

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

The plan B was to be a university professor in economics and my 10-year-old self-wanted to be a footballer at Liverpool Football Club.

To find out more about the work of HCD Economics please visit;
www.hcdeconomics.com

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Rob Long of Uplifting Athletes

3/6/2020

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Having received life-saving treatment himself, for a rare form of brain cancer, Rob Long very much sees his position as CEO of Uplifting Athletes, as paying it forward to the RARE disease world. He talks to RARE Revolution about the incredible opportunities for research his organisation provide and the challenges, and indeed possibilities, the current worldwide pandemic is offering

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 then specifically Uplifting Athletes and what did that journey look like?

Like many of us, I was unwittingly thrust into the wide world of rare disease with my diagnosis. In December 2010, I was diagnosed with a rare aggressive form of brain cancer. My MRI revealed a mass nearly the size of a tennis ball. My teammates on the Syracuse University football team rallied in support of me and established the Syracuse University Chapter of Uplifting Athletes in my honour. After almost a year and a half of treatment, I had my first clean MRI. In that time, I had become fully involved in supporting the Syracuse Chapter of Uplifting Athletes. In 2016, I reached out to our Founder Scott Shirley and he provided me with an opportunity to join the Uplifting Athletes organisation full-time. In October 2018, I was selected as the next Executive Director of Uplifting Athletes.

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

It’s amazing how quickly things change. The challenge that we are facing now is how effectively we can pivot from cornerstone fundraising events, and their reliable revenue, being cancelled to establish a new way to engage our audience and donors. We were on a tremendous growth trajectory when the COVID-19 pandemic hit and we would like to find a way to maintain that.

I also believe that these challenges provide opportunities to explore and try things that we may have not otherwise attempted to do. We have been forced out of our comfort zone as an organisation and it is inspiring some new creative ideas that will stick around long after the pandemic passes.

Davidson college Lift for Life fundraiser, raising over $12.k

3.	What is your proudest moment in your career thus far?

Every day is really rewarding for me. I truly love what I do and know that I am in a position to have a positive impact on other human lives and I am so fortunate to have that opportunity. One of the highlights for me has been watching the evolution of our Young Investigator Draft initiative that elevates, and funds, up and coming researchers in the rare disease space. In May, we received word that one of the researchers that was selected through the Young Investigator Draft, Dr. David Fajgenbaum and his team, had used funding from our grant to discover parallels in the body’s immune response in Castleman Disease and COVID-19. I was so proud to be able to support timely and impactful work. It was also proof of that by funding rare disease research, the discoveries that we make translate in so many ways for those affected by more common diseases.

The 2019 Young Investigator Draft, grant recipients
A hugely successful initiative to support up and coming researchers

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

There are a lot of people who have helped me tremendously along the way. One of the people that we work with here at Uplifting Athletes is John Trzeciak. John is a volunteer business advisor for us and has been a mentor from a business standpoint. Jean Campbell on the rare disease side has been a mentor with engaging the rare disease community. Jean is a 30-plus year veteran of the rare disease space and has worked with NORD and several advocacy organisations. Personally, I have countless people that have shaped the person I have become but it all started with my parents. I am lucky to have had their guidance and support from day one.

5.	What advice would you give someone considering working in the rare disease space?

Do it. Simply put this community is incredible. I have met more uplifting and inspirational people in just a couple of years than most people have the chance to meet in a lifetime. The motivation for progress is constant and the opportunity to have an impact is endless.

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?

I do believe that the government has supported and driven progress in the rare disease community. If you are asking if it is enough? I don’t think we can do enough until we find therapies and cures for the more than 95% of rare diseases that do not have an FDA approved treatment. They are doing something, but I think there is always the desire for more until we can help all those affected by rare diseases.

7.	What would you say are some of the biggest motivators for your employees?

The biggest motivators are seeing the results of the work that we do. Whether it is getting a chance to empower an athlete with the knowledge of how they can support the rare disease community, meeting the researchers who we are fortunate to fund, or seeing the look on a patients face when they get to visit their favourite NFL team, it is the people that motivate them.

NFL Seattle Seahawks' wide received Malik Turner
The Uplifting Experience initiative launched in 2018

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

The toughest decision is to stay completely focused and committed to our mission and strategy so that we can use our core competencies as an organisation to provide the biggest benefit to the rare disease community as a whole. It is hard to not jump at opportunities as they arise, but we need to stick to the plan and process that we have developed. Unfortunately, that means not always being able to help everyone all the time which can be frustrating.

The most rewarding part is that I am a product of the research that we aim to support through the Young Investigator Draft. I am alive today because of the time, resources and money that were directed at finding a therapy years before I was ever diagnosed. I won’t be able to meet all the people that made that research possible, but I can wake up every day and pay it forward in hopes of having a similar impact one day in the future.

9.	What would be your one wish for Uplifting Athletes for the year ahead?

With all the uncertainty amid the global pandemic, my wish is that Uplifting Athletes can remain on its growth trajectory that we were on prior to the global pandemic. I think this organisation has so much potential to have a significant and lasting impact on the Rare Disease Community.

10.

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

As much as I would never change my past because it has shaped the person that I am today, I would have loved the opportunity to have played in the NFL just for the experience of it. I came so close, but the timing of my diagnosis couldn’t have been worse for my prospects of becoming a professional athlete.

To find out more about the work of Uplifting Athletes please visit;
www.upliftingathletes.org

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Toni Mathieson of Niemann-Pick UK

1/6/2020

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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.

Toni with her beautiful daughter, Lucy, who along with her other two children, remain her inspiration and driving force

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?

Our Annual Family Conference & Interactive Workshop is the highlight of our year, bringing together patients, families and professionals from the UK and across the world. This is the largest event focussed on Niemann-Pick disease in Europe, having grown from just a few families getting together almost 30 years ago.

My proudest moments are looking around the room at these events, seeing everyone together, greeting old friends, making new ones, sharing their stories, forming new networks, supporting each other. I feel proud of what we have created and of the sense of community we offer, which is underpinned by the warmth of the interactions between patients and families and the lasting friendships that stem from these.

Toni, with her mum Val and John Lee Taggart, Communications and campaigns manager, at the Annual family conference 2017

Toni speaking at the Annual family conference in 2018, with NPUK Chair, Will Evans looking on

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.

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.

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.

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.

The NPUK team in 2017

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?

I have no Plan B, I hope that once my time as CEO of NPUK is up, I will be able to support this organisation and its inspiring community in other ways. My ten-year-old self wanted to be a midwife, a profession I continue to have great admiration for following the challenging circumstances we faced with our children and the sensitive and compassionate way in which we were supported.

To find out more about the work of Niemann-Pick UK please visit
www.npuk.org

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CEO
Series

Eric Dube Ph.D. of Retrophin

Thomas Ogorka of Orphan Reach

Jamie O'Hara of HCD Economics

Rob Long of Uplifting Athletes

Toni Mathieson of Niemann-Pick UK

Author

Archives

Categories

Rare Revolution is published by NRG Collective, a not-for-profit media company specialising in rare disease content
Contact Us
rstewart@rarerevolutionmagazine.com

CEO​Series

Eric Dube Ph.D. of Retrophin

Thomas Ogorka of Orphan Reach

Jamie O'Hara of HCD Economics

Rob Long of Uplifting Athletes

Toni Mathieson of Niemann-Pick UK

Author

Archives

Categories

Rare Revolution is published by NRG Collective, a not-for-profit media company specialising in rare disease contentContact Us​rstewart@rarerevolutionmagazine.com

CEO
Series

Rare Revolution is published by NRG Collective, a not-for-profit media company specialising in rare disease content
Contact Us
rstewart@rarerevolutionmagazine.com