Rare Disease Day: Celebrating an empowered community

On Rare Diseases Day, EUCOPE is delighted to host an interview with Laurence Woollard, patient expert and rare disease advocate, to discuss with him the importance of an engaged community and the opportunities and challenges new treatments can bring.

Hi Laurence, thank you very much for accepting to meet with us. First of all, can you tell us a bit more about yourself, and why you have decided to become such a vibrant patient advocate?

“I’m really honoured to have been asked to feature as someone living with a rare condition!

My involvement in patient advocacy is two-fold. To begin with, I’ve lived with severe haemophilia all of my life and notably, during the period from entering adolescence through to early adulthood, my care needs escalated significantly. Because of this, I was not only confronting the legacy of past bleeding episodes but also having to navigate multiple disciplinaries to support my needs to live independently; like any young professional trying to keep up with the frenetic pace of London life!

On reflection, my clinical profile – one of severe joint arthropathy – is symptomatic of growing up in the ‘90s into the millennia with treatment guidelines and practice of the day. Moreover, relevant, age and developmentally appropriate educational experiences were few and far between, if any. Certainly, by the time of transitioning into adult care, my ‘normal’ was far from what I should have expected had I been more self-aware at the time.

A lingering sense of frustration even now turning 30, and where I’m still confronting barriers to optimal care, gives me extra motivation and drive to ensure patient-targeted support, particularly in haemophilia, are having a sustainable impact on people’s lives through activation, education and knowledge-sharing that’s equal, inclusive and accessible for everyone!”

Why is it so important to have an informed and engaged patient community?

“It’s a big question! I think, undoubtedly, there is immense value to having a motivated, knowledgeable and empowered patient network, to create significant benefit to the whole healthcare ecosystem. From the very beginning of the medicines lifecycle, when providing patient insights to improve targeted drug discovery and shaping the clinical trial experience for themselves, to the post-approval setting of guaranteeing access and being best-equipped to make informed and personally relevant decisions about their care; ideally, culminating in better overall health outcomes and cost-effectiveness.

However, underpinning this enhanced “state” of engagement – whereby individuals, their families and caregivers are actively participating in research and engaged in their own healthcare needs – is the critical importance of health literacy.[1] Without the core knowledge, skills and capability to interpret and act upon health-related content, as well as being able to determine their own personalised goals of care and future prospects, the success of any intervention could be undermined and be less meaningful to the end user or community as a whole. Hence, I believe effective educational strategies led by healthcare providers and/or patient advocacy groups designed to strengthen engagement should embed improving health literacy at its core.

As I see it, this is a catch-22. On the one hand, without community input and insight, research and/or interventions can be easily misdirected, and be focused on issues that are not priorities or necessarily pertinent in eyes of those impacted or affected by a particular health condition. Then again, to achieve higher levels of engagement with validity and reliability, and avoid the possibility of tokenism, a community mobilised into action has to be well-informed. Stakeholders have to tap into and harness the psyche and motivations of those concerned, and support and encourage enough self-belief and confidence in everybody to speak up. This is especially poignant for those living with, or caring for someone with a rare disease, who are naturally in a minority and facing barriers within a system that isn’t necessarily designed or catered for their needs across different life-stages, coupled with the idiosyncrasies that go hand-in-hand with that.

I align with the fundamental ethos that is widely quoted saying, ‘Nothing about patients, without patients!’”

We see a wave of innovation in treatment for rare diseases, including some revolutionary gene and cell therapies. What’s your perspective? What could this mean for your patient community?

“Well, let me just say, it is widely acknowledged that people living with rare diseases tend to be underserved both clinically and scientifically. It would seem that researchers and industry face many obstacles in discovering new therapies, not least the cost-benefit challenge faced in bringing novel drugs to market for small patient populations. Most rare diseases have no approved treatment and the average standard of care is likely to be suboptimal, impacting greatly on the health and wellbeing of those affected as well as national health budgets and society more broadly.

Saying that, I know for a fact that drug repurposing is one strategy and pathway already being utilised to identify and deliver clinic-ready treatments new to rare disease populations from existing, market-approved drugs. A patient-driven success story local to me in Cambridge, UK is that of the AKU Society; over a decade-long collaboration with clinicians and scientists to repurpose a medication for the ultra-rare genetic metabolic disorder, alkaptonuria.[2] Moreover, there are really innovative biotech-patient partnerships happening in this city and elsewhere, using artificial intelligence platforms via rare disease accelerator programmes, for more rapid identification of promising repurposing drug candidates.[3] It will be exciting to follow the clinical progress that comes from these.

People living with rare diseases tend to be underserved both clinically and scientifically

To your point, considering the majority of known rare diseases are genetic, gene-based approaches which address the root cause of the condition – specifically ones that involve a single-gene mutation like haemophilia – have the potential to be therapeutically transformative. This is particularly essential where there are currently few or no real treatment alternatives, or where there is a risk to life in infancy. It is quite remarkable that there are more than 1000 clinical trials of gene and cell therapies, and tissue engineering, ongoing worldwide that are targeting multiple indications, including many rare diseases.[4] Market approval has already been achieved with products for the likes of a rare form of inherited blindness – the first patients were reported being treated on the UK’s NHS only last week[5] – and this year could mark the first gene therapy entrant for haemophilia.[6]

Whilst this might represent a momentous step forward in the management of haemophilia, from a patient perspective, we should proceed with cautious optimism and carefully handle individual and collective expectations around the profile and characterisations of these modalities. To date, trials have only been conducted in adults and I have heard first-hand from healthcare professionals that, whenever there is any media exposure, the phone hasn’t stopped ringing by parents and caregivers eager to put their children forward; only to be disappointed! Similarly, I’m aware not everyone will be eligible should they already have pre-existing immunity to the viral vector technology being utilised, to deliver the functional copy of the clotting factor genes into the relevant target cells. Also, there are further immune challenges described in the literature that are not yet fully understood and other risks and uncertainties associated with gene transfer, including durability of expression,[7] which will require extensive interpretation through multi-channel education campaigns to guide decision-making and the consenting process. The value of such a therapy – encompassing patient-centric outcomes – will hopefully be cemented during long-term, real-world follow-up.”

How do you see the future in haemophilia? What do you expect the most?

“As the saying goes, “the view of the future is shaped by the past.”

The devastating tragedy of plasma-derived clotting factor concentrates (CFC) and transfusion-related viral infections in the late 1970s and early to mid-1980s,[8] fuelled research on the development of safer and more effective treatments in haemophilia. Since then, I’ve been exposed to continuous improvement and refinement of recombinant protein replacement therapies. More recently, bioengineering innovations have led to modified, extended forms of these conventional products, with the aim to increase bleed protection and improve quality of life.[9]

There’s been a dramatic shift change with the introduction of a novel agent that mimics the biological activity of clotting factor VIII for type haemophilia A and can be delivered subcutaneously,[10] rather than normally intravenously which for some people is a barrier to adhering to prophylaxis i.e. repeated infusions several times a week.[11] There are other ‘non-factor non-gene therapies’ in the pipeline that are manipulating the coagulation system in different ways to reduce or eliminate bleeding events and overcome the clinical needs of a subpopulation with inhibitors to CFC.[12]

Stronger advocacy is paramount for increased access

Considering these advances, I’d be lying if I didn’t sometimes feel like the ‘elephant in the room’ when I’m meeting colleagues living and/or involved with other rare and orphan diseases with no viable options, as aforementioned. Still, to conceive of having the pick and choose of this ‘buffet spread’ of prospective haemophilia therapies, with their different modes of action, in reality, is anyone’s guess. Globally, many developing regions still do not have ready access to factor replacement for a multitude of reasons and are having to rely on donations for basic survival.[13] Only the other week, a specialist physician practicing in the Balkans expressed her concerns to me about treatment running out to cover her paediatric patients alone and/or any urgent surgeries – humanitarian assistance might be their only lifeline!

Closer to home, the focus has to be on stimulating discussion in the community around people’s “acceptance” of bleeding, which may have been self-conditioned and never challenged over time. This is considering a growing consensus that preventing spontaneous bleeds today is feasible with current therapies, to afford freedom of lifestyle choices and protect their future welfare.[14] In terms of wider care needs, I believe more can be done around assessing and helping those trying to manage chronic and recurrent pain from joint damage as a result of historic bleeding. Related to this is the self-recognition of the need for psychosocial help, and stronger advocacy is paramount for increased access and support to these type of services as part of the comprehensive care package.”

This week, we will celebrate rare diseases day around the world. Why are such campaigns so important? What do they bring to patients and society?

“Ultimately, every year, it puts the spotlight back on the complexities and successes surrounding people living with rare diseases and galvanises public and political interest to campaign for better resources and funding to spur on innovation. Also, I feel it’s the perfect moment to recognise and celebrate all those involved in the care of people living with rare diseases, both on the frontline and behind the scenes proactively pushing the rare disease agenda to the top. If anything, I hope awareness campaigns like Rare Disease Day enable members of the community who may feel isolated, to reach out to their peers and talk and share about the issues that matter most to them.

In regards to events, I was pleased to attend a drug repurposing conference on Monday organised by a rare disease charity called Findacure, who provide necessary capacity building trainings to new and existing rare disease patient groups. I also joined various stakeholders at the annual Rare Disease Day reception at the UK parliament in Westminster on Wednesday, organised by Rare Disease UK.

I wish everyone the best of luck for the 29th February!”



[1] Coulter A. (2012). Patient Engagement – What Works? J Ambul Care Manage, 35 (2), 80-9. DOI: 10.1097/JAC.0b013e318249e0fd

[2] Zatkova A, Ranganath L, Kadasi L. (2020). Alkaptonuria: Current Perspectives. Appl Clin Genet, 13, 37-47. DOI: 10.2147/TACG.S1867

[3] Tranfaglia MR, Thibodeaux C, Mason DJ, et al. (2018). Repurposing Available Drugs for Neurodevelopmental Disorders: the Fragile X Experience. Neuropharmacology, 147, 74–86. DOI: 10.1016/j.neuropharm.2018.05.004

[4] Lambert J. (2020). Cell & Gene State of the Industry 2020 [PowerPoint presentation]. Cell & Gene Therapies State of the Industry briefing, 13 January, San Francisco. Available at: https://46ax7g7nqmq3divu13d9zsn1-wpengine.netdna-ssl.com/wp-content/uploads/2020/01/State-of-the-Industry-FINAL.pdf [Accessed 25 February 2020]

[5] NHS England. (2020). First patients begin gene therapy treatment for blindness as part of NHS Long Term Plan. 17 February. Available at: https://www.england.nhs.uk/2020/02/first-patients-begin-gene-therapy-treatment-for-blindness/ [Accessed 25 February 2020]

[6] According to various reports online in February 2020, the Food and Drug Administration (FDA) in the US has given priority review to one company for its gene therapy candidate to treat people living with haemophilia A.

[7] Miesbach W, O’Mahony B, Key N, et al. (2019). How to discuss gene therapy for haemophilia? A patient and physician perspective. Haemophilia, 25 (4), 545-557. DOI: 10.1111/hae.13769

[8] Makris M, Konkle BA. (2017). Hepatitis C in haemophilia: time for treatment for all. Haemophilia, 23 (2), 180-181. DOI: 10.1111/hae.13183

[9] Young G, Mahlangu JN. (2016). Extended half-life clotting factor concentrates: results from published clinical trials. Haemophilia, 22 (S5), 25-30. DOI: 10.1111/hae.13028

[10] Blair HA. (2019). Emicizumab: A Review in Haemophilia A. Drugs, 79, 1697-1707. DOI: 10.1007/s40265-019-01200-2

[11] Schrijvers LH, Kars MC, Beijlevelt-Van der Zande M, et al. (2015). Unravelling adherence to prophylaxis in haemophilia: a patients’ perspective. Haemophilia, 21 (5), 612-621. DOI: 10.1111/hae.12660

[12] Nogami K, Shima M. (2018). New therapies using non-factor products for patients with hemophilia and inhibitors. Blood, 133 (5), 399-406. DOI: 10.1182/blood-2018-07-820712

[13] Pierce GF, Haffar A, Ampartzidis G, et al. (2017). Five-year results of an expanded humanitarian aid programme for haemophilia in resource-constrained countries. Haemophilia, 24 (2), 229-235. DOI: 10.1111/hae.13409

[14] Skinner M, Nugent D, Wilton P, et al. (2019). Achieving the unimaginable: Health equity in haemophilia. Haemophilia, 26 (1), 17-24. DOI: 10.1111/hae.13862

February 27, 2020

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