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Rare Disease Day – why it’s important to show your stripes

Nucleus Global's EU Strategy Director, Amanda Henkel, writes about the importance of continuing to raise awareness of rare diseases

Rare Disease Day (https://www.rarediseaseday.org/) on 28 February is intended to raise awareness among policymakers and the public about rare diseases and their impact on the lives of patients and their families. If you’re active on social media, you can’t have failed to notice the splashes of pink, blue and green accompanying posts of the annual event. In the US, the zebra is the official symbol of rare diseases (due to the uniqueness of the black and white stripes) and the National Organization for Rare Disorders (NORD) are using the hashtag ‘Show Your Stripes’ to promote Rare Disease Day – but what does it mean, and why should we get involved?

The European Commission for Public Health defines rare diseases as life-threatening or chronically debilitating diseases, which are of such a low prevalence that special efforts are needed to address them. A standardised definition for rare diseases is currently lacking, with incidences typically defined by regional legislations developed to incentivise drug development (termed ‘orphan medicines/drugs’ by the FDA and EMA). In the US, a rare disease is considered as one affecting fewer than 200,000 individuals, whereas in the EU it’s defined as affecting fewer than 1 in 2000. These numbers are low, but the non-profit organisation Global Genes Project (https://globalgenes.org/) estimates that collectively ~350 million patients are affected by a rare disease worldwide. The total number of rare diseases is estimated at 7–8000, but the true number could be substantially higher.

More than half of those affected by rare diseases are children. For a parent or caregiver, a rare disease means living with uncertainty. A schedule full of appointments, procedures and follow-up visits. Hours spent in front of a screen trying to research what is wrong with your child. Then there’s relief to finally receive a diagnosis, to put a name to the disease; followed by shock and worry to find out there is frequently no treatment available. And for a patient – what no doubt feels like a lifetime of not being heard or believed, learning how to cope with the fear of not knowing anything about the future and accepting to live life one day at a time. Only someone facing this situation can know what it really means; the rest of us can only guess at the rollercoaster of emotions and challenges they must face.

Thanks to a slew of initiatives such as Rare Disease Day, and a significant push from patients and patient advocacy groups (PAGs), awareness of rare diseases is at an all-time high, with both NORD and the European Organisation For Rare Diseases (EURORDIS) playing pivotal roles in elevating the patient voice and driving legislative changes. In addition, regional programmes such as the European Joint Programme on Rare Diseases (EJP RD; https://www.ejprarediseases.org, which brings together more than 130 institutions from 35 countries) have been created to address common challenges through research, care and medical innovation. Despite this, most rare diseases still lack approved treatments, with disease management frequently focused on symptomatic relief. Prompt diagnosis and effective treatments are desperately needed – and only an integrated approach and broad knowledge-sharing will enable this.

It’s been reported that a correct diagnosis in rare diseases can take 6–8 years, involving visits to more than seven different physicians. But there is hope – an ever-growing number of pharmaceutical companies and biotechs are conducting clinical trials in rare diseases; furthermore, the role of PAGs is expanding, with an increasing focus on accelerating the research and development of potential treatments. One notable example is the Castleman Disease Collaborative Network (CDCN; www.cdcn.org), which was co-founded by Dr David Fajgenbaum and Dr Frits van Rhee in 2012. The CDCN is a global initiative dedicated to improving the survival of patients with Castleman disease (CD), taking a novel approach to crowdsource and prioritise research questions, identify top researchers and then fundraise to support their clinical research. This collaborative model has proved highly successful, as demonstrated by the natural history registry ACCELERATE (recently published in Cell Reports Medicine); the patient-powered design enabled high enrolment and increased the amount of data collected, revealing that more than 40 off-label treatments are used in CD. As well as being a physician, Dr Fajgenbaum is a patient, describing himself as ‘survivor, physician-scientist, disease hunter’ – if you’re looking to understand the impact of a rare disease and want to be inspired, then I can highly recommend his 2019 memoir ‘Chasing my cure’ (https://chasingmycure.com/).

What does rare disease mean to me, personally? To be involved in supporting the rare disease drug development and commercialisation process in any way is both humbling and motivating. Discovering the impact of a rare disease on a patient’s quality of life, particularly when it comes to young children, can’t fail to draw at the heart strings. It makes you grateful that your own children are healthy – but more than that, it brings about a renewed sense of purpose. Work has always been more than just a job but focusing on rare diseases is fulfilling and brings even more value. Pharma and biotech companies often state that they’re patient-centric; nowhere is that truer than in rare disease. It’s a privilege to work with collaborative teams of clients and agency partners who are truly committed to transforming patient care.

The challenges in rare disease are clear. Identifying patient needs is critical, as is a comprehensive understanding of the patient’s and physician’s journey and ecosystem – including the access and reimbursement pathway. The stakeholder community is highly connected, and it’s essential to not only build a full picture of this, but to engage with all stakeholders early in the drug development process. Education and consistency of message are of course central to success, targeting GPs, specialists, nurses, pharmacists, patients/caregivers, PAGs and the extended teams involved in patient care, as well as regulatory authorities, healthcare policymakers and payers.

But the first step in all of this is awareness – so get your stripes on and get involved. Rare Disease Day is only one day – but it’s a start. So, let’s make it count.

Amanda Henkel, EU Strategy Director at Nucleus Global

23rd February 2021

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