Driving research, providing support and improving outcomes for rare disease patients and their families



The Myrovlytis Trust and BHD Foundation attended RAREsummit21 on 7th October 2021. Organised by Cambridge Rare Disease Network, this one-day event brought together patients, advocates and experts to discuss the challenges facing the rare disease community.

The first session focused on equality, diversity and inclusion (EDI) in rare diseases and featured a panel discussion in which individuals shared their personal experiences of EDI barriers, particularly on the journey to diagnosis. Your ethnic background, gender and where you live can all be a barrier to diagnosis and an individual affected by a rare disease often has to persist to be listened to compared to those without such barriers. The lack of diversity in clinical trials was also spoken about, and the need to identify ways to increase trial participation among ethnic minorities. There was also a discussion on health literacy, and the need for patient advocacy groups to create resources that are suitable for the target audience.

The discussion of health literacy led nicely into the second session entitled “Rare Disease Health Information Delivered Well”, which underlined the importance of providing clear reliable knowledge to enable informed decisions. Getting a rare disease diagnosis can be an extremely overwhelming situation. Individuals or their carers are often given a lot of information which is not always related in the most accessible format, for example the use of very technical or medical language. It has been shown that 40-80% of information discussed in a medical consultation is immediately forgotten and therefore a great deal of thought needs to go into providing this information in the most sensitive and accessible formats. There is also the additional complication of accessing high quality, reliable information due to increasing amounts of information available on the internet, some of which will be outdated or incorrect.

Following on from the discussion on delivering health information, was a session on amplifying the patient voice through patient voice publications. It was agreed that this is extremely important to better understand the disease and burden on the community and that it is the patient voice that can drive engagement with other stakeholders e.g. industry. It was noted that needs outside of healthcare are often unheard and unmet, and a patient voice publication can help address this issue. It is not just other stakeholders that can benefit from a patient voice publication, they can be useful for other individuals affected by rare diseases and provide a reassuring voice that you are not alone in your rare disease journey. However, there needs to be a considerate strategy for how and where to publish a patient voice publication. For example, publication in a medical or scientific journal is probably not the best approach as some of them are not accessible to the public, and even if they are, there are still barriers to finding them in the first place. It is also not sufficient to just create a public voice publication without an appropriate strategy of how to effectively use it and engage with other patients, industry and healthcare professionals.

Engaging with industry can be a challenging task for a small patient advocacy group. The afternoon session entitled “Patient Group and Industry Partnering: What are the right ingredients to help catalyse new treatments?” gave an excellent overview of what a successful industry partnership looks like. The discussion focused on being ‘industry ready’ and that partnering with industry is a long-term goal. The first steps towards this include raising an awareness and having an in-depth understanding of the condition. A clear goal and outcome for patients is required and industry need to understand the immediate benefits to patients. Partnering with industry can be a long road, but persistence from the patient group is key, and making those connections is important. Most conversations can be beneficial, even if it is not appropriate to form a partnership, patient groups are raising awareness and representing their community through these conversations. Additionally, it may open doors for other opportunities with different companies, and an opportunity to have another discussion in the future.

The day ended by featuring a successful partnership with the rare disease patient organisation Ring20 which provides support for an ultra-rare form of epilepsy, and their partnering with the company Illumina. This was a really uplifting way to close RAREsummit, and demonstrated that hard work and persistence, along with an engaged patient community and voice can make a real difference to the lives of individuals affected by Ring Chromosome 20 Syndrome.

Take home messages

The underlying theme of the day was that patients are central to, and critical for, the success of a patient advocacy group. The mission of the Myrovlytis Trust and BHD Foundation is to improve the quality of life for individuals with rare conditions. To enable us to do this, we need to raise awareness of BHD, drive research and engage with industry, all of which require a strong patient voice. Going forwards we would like to further engage with the BHD community and create more patient-centred resources to raise awareness among clinicians. We would also like to take steps towards partnering with industry such as creating a patient registry to increase our understanding of the full range of symptoms associated with BHD.