EURORDIS-Rare Diseases Europe

New to this year’s EURORDIS Black Pearl Awards, the Raising Awareness Award celebrates an individual or group raising awareness of rare diseases through a broad spectrum of channels.

The award acknowledges excellence and innovation in utilising traditional and digital landscapes – including blogs, podcasts, online video series, public relations, events, educational initiatives, and interactive digital tools – to inform, educate, and mobilise the public for our community. ✨

Do you know someone worthy of this prize? Nominate them now!
👉 https://go.eurordis.org/Nominate

At a meeting today in Brussels, EURORDIS President Avril Daly, CEO Virginie Bros-Facer and Public Affairs Director Valentina Bottarelli handed the Open Letter, with over 2,000 signatures from across our community, to Stella Kyriakides, European Commissioner for Health and Food Safety.

They emphasised the unified appeal from Europe’s rare disease community for detailed policy actions from the European Commission and Kyriakides' eventual successor at DG SANTE.

🗣️ “Our calls for EU action have long been echoed by EU institutions and Member States. The President of the European Commission, Ursula von der Leyen, and her future Health Commissioner must prioritise health in the next EU Strategic Agenda and establish a true European Health Union, including a plan for rare diseases.” - Virginie Bros-Facer, EURORDIS CEO

Read the full statement from the meeting: https://go.eurordis.org/s2FDEr

In this month’s episode of 10 Minutes With ‌Rhiannon Walls, we’ll be talking to Paralympian and rare disease researcher Sofie Skoubo!

After her keynote speech at , Sofie sat down with us to talk about how her rare disease journey started, how she first got involved in sport and the journey that has taken her from there to competing at for the Danish wheelchair rugby team!

Don’t miss this truly inspiring conversation! Join us over on EURORDIS LinkedIn at 5pm CEST on 6 August, 2024.
⏰ https://go.eurordis.org/u8xU8R

Clinical Practice Guidelines (CPGs) are sets of statements that include recommendations for clinicians about the care of patients with specific conditions. How can we go about creating high-quality CPGs? 🍳 An essential ingredient is patient involvement.

This toolkit is designed to help you plan and deliver a face-to-face workshop for patient representatives and clinicians, so that they can learn in an interactive manner about how CPGs are developed and how the patient voice can be incorporated throughout the development process.

The toolkit is comprised of three documents:
🖥️ A summary of the workshop’s stages
🗣️ A Facilitator’s Guide
📄 An Information Sheet for Participants

Start using the toolkit and contribute to effective patient-centred care today:
👉 https://go.eurordis.org/omm5zw

Over the past decade, rare disease recognition and diagnosis have increased, expanding knowledge within specialised clinical teams and centres, as exemplified by the European Reference Networks (ERNs). The challenge now is to apply this expertise to improve diagnosis, care, and treatment through disease-specific measures.

How can we do this? Let’s find out together! Our upcoming Patient Partnership Webinar will explore examples of these measures and the crucial role of patient representatives can play in maximising their impact!

💬 Patient Partnership Webinar – Unlocking ERN Potential: Disease Specific Measures
🗓️ 24 July 2024
⏰ 3PM – 4:30PM CET
➡️ https://go.eurordis.org/events

The Executive Summary of the 12th European Conference on Rare Diseases and Orphan Products is now available!

Weren’t able to attend ? Were present but want a reminder of the main highlights? The report covers everything from the pre-conference session summaries to key quotes and policy outcomes.

These key policy outcomes also form the basis of our Open Letter, calling on European policymakers to move us towards a more inclusive and effective health union. There are only a few days left to add your voice to the call and sign the letter before we meet with Commissioner Stella Kyriakides on 23 July.

🖋️Read the full report and sign now: https://go.eurordis.org/JBbhW7

Over the years, the EURORDIS Black Pearl Awards have hosted some extraordinary people, but it is far more than “just a fancy dinner”. From fundraising, to education, to acting as a political platform, the evening serves a variety of functions.

In our latest article, we look back on the history of this flagship EURORDIS event to see how it began and how far we’ve come! We spoke to some of the earliest awardees and the people who have been responsible for making it happen to get a peek behind the curtain.

Do you want to become part of the Black Pearl Awards history? Nominations are now open for the ! Don’t miss your chance to have your say in who joins our incredible lineup of past awardees! ⭐

Read the full article: https://go.eurordis.org/zrfVe7

Are you living with a rare disease and disability? 💬 We want to hear from you!

The latest survey focuses on the impact of rare diseases on daily life, including experiences with disability recognition and support.

Share your story to help us drive positive change in the rare disease community. Available in 25 languages until 8 September.

✅ http://tiny.cc/RB_DailyLife

There is still time left to register for our upcoming webinar on the role of patients in the design of rare disease care pathways.

In healthcare systems, a 'care pathway' is a comprehensive care plan that outlines each step for a specific patient population to ensure they achieve the best outcomes and quality of life safely and efficiently. These pathways form the foundation of our healthcare systems by translating clinical guidelines into practical actions!

By sharing best practices from real-world case studies, this webinar will discuss the best ways that patients and their representatives can get involved in the design and development of these pathways.

Register now! ➡️ https://go.eurordis.org/vVa9MQ

This is the final call for anyone wishing to submit their application to join the EURORDIS Digital and Data Advisory Group (DAG)!

The group’s mandate is to provide expert advice to EURORDIS on all aspects of digital health policies and procedures, based on your personal experience as a member of the rare disease community. The group has contributed to several influential EURORDIS positions in past and will continue to play a key role in shaping patient engagement and patient-centric approaches in numerous European projects such as FACILITATE, JARDIN, and Screen4Care!

Applicants must:

🧠 Have a strong interest in digital health

🗣️ Have a high level of fluency in English

🤝 Be an active member in the EURORDIS network

🎓 Have attended at a data and digital training organised by a patient organisation (desirable)

Answer the call! ➡️ https://go.eurordis.org/yfuFoK

Thank you to the European Economic and Social Committee for inviting our Director of Public Affairs, Valentina Bottarelli, to speak to today’s hearing on their upcoming Opinion "Leaving No One Behind: European Commitment to Rare Diseases”.

Ágnes Cser, the EESC Rapporteur, opened today’s first panel by reminding the room of the our community’s high level of unmet needs.
🗣️"Early diagnosis is something that is very important. Families are losing their jobs, they have financial problems and preventable diagnosis can already be achieved in a prenatal stage. I ask you to help us with this opinion." - Ágnes Cser

The panel rounded out with contributions from Csaba Kontor, from the Hungarian Presidency of the Council of the EU, and Fulvia Raffaelli, Head of Digital Health at DG SANTE promising continued commitment to rare disease policy advancements. Most notably, Enrique Terol, Health Attaché from the Spanish Permanent Representation to the EU, stressed that there’s a long way to go towards an EU Action Plan on Rare Diseases, but we still need a structured roadmap - “a plan to build The Plan.”

The second panel opened with our own Valentina Bottarelli reiterating Mr Terol’s sentiments and underlining the urgently needed actions detailed in our priorities.

The discussion concluded with Victoria Hedley, Rare Disease Policy Manager, highlighting the importance of national-level plans to progress, and Anne-Sophie Lapointe presenting some best practices from France.

🗣️ “The rest of the world look at the EU for national plans.” - Victoria Hedley

We now eargerly await the EESC Opinion! 🤝

Are you aware of any innovative approach to patient partnership in your expert centre? Do you want to showcase an example of patient-clinician collaboration in your European Reference Network (ERN)? 🙋

To help foster peer learning on patient partnership in the ERNs, we are excited to be launching a contest to select six patient partnership good practice case studies to take part in our Patient Partnership Webinar series in 2025!

All the practices will be presented in a dedicated webinar and the three receiving the highest scores be awarded with the chance to have their printable material(s) created by a professional graphic designer. A Selection Committee will be established to review the good practices and score them against the Patient Partnership Good Practices Criteria (available on our website).

Entries should be submitted by 31 October, 2024, as per the instructions. Only properly formatted applications can be considered.
👉 https://go.eurordis.org/QqpE2f

📢 Make your voice heard!

We are delighted to announce the launch of the survey, focusing on the impact of living with a rare disease on everyday life.

From today until September 8, this global survey is available in 25 languages, inviting individuals living with a rare disease and their family members to share their stories.

The survey aims to gather insights into social participation and the challenges encountered in daily activities such as education, employment, and leisure, as well as preferences for independent living.

Your participation will empower EURORDIS and its members to advocate for improved policies and enhanced support for the entire rare disease community. Join us in making a difference!

🌍 http://tiny.cc/RB_DailyLife

You can also use our communication toolkit, also available in 25 languages, to help spread the word and make your voice even louder!

In health systems, a ‘care pathway’ is a detailed care plan, charting each step for a specific patient population to make sure they safely and efficiently reach the best outcomes and quality of life. They are the foundation of our healthcare systems. They put clinical guidelines into action.

The European Reference Networks (ERNs) are collaborating with national authorities under the new EU Joint Action for Integration (JARDIN) to develop ERN care pathways, that can be tailored and adopted locally in national healthcare systems.

But what is the role of patients and their representatives in the design and development of rare disease care pathways?

This webinar will provide an introduction to care pathways and share the best practice methodology for care pathway development based on real world experiences!

Find out more ➡️ https://go.eurordis.org/vVa9MQ

Our thoughts are with our friends and colleagues at Ohmatdyt Children’s Hospital in Ukraine (БФ "Охматдит - Здорове дитинство"), which was targeted by a missile attack this morning. At least 24 casualties have been reported so far.

For over 15 years, Ohmatdyt has been home to the Centre for Rare Diseases and Gene Therapy, providing essential care to children from all over Ukraine. The centre specialises in diagnosing and treating metabolic and neuromuscular diseases, cystic fibrosis, and other rare conditions.

In response to the growing needs of the rare disease community, since 2022, the hospital has also housed the "Rare Disease Hub Ukraine." This hub provides critical assistance to displaced Ukrainians living with rare diseases, supported by Ukraine’s Ministry of Health, EURORDIS, and the European Commission.

Moreover, our partners at Ohmatdyt have been instrumental in fostering EU-Ukraine collaborations in the field of rare diseases. The EU Joint Action on Integrating ERNs into National Health Systems (JARDIN) includes Ukraine as an associate partner, facilitating the exchange of knowledge and expertise between Ukrainian patients and clinicians and their EU counterparts.

We are closely monitoring the situation and hope for the safety and wellbeing of all patients and healthcare providers during these difficult times. If you would like to support the hospital’s efforts during this challenging period, please use the link below:

🔗 https://www.ohmatdytfund.org/en/rare-diseases-hub-ukraine

📸 Photo of EURORDIS colleagues visiting Ohmatdyt hospital in February 2024 to mark Rare Disease Day.

There are just two days left to respond to our call for tender and submit your proposals for the upcoming EURORDIS brand refresh and development.

Do you or someone in your network know of an innovative creative agency or freelancer who is up to the task of elevating our brand identity to ensure it aligns seamlessly with our goals, embodies modern design standards, and effectively reaches a broad audience?

⏰ Deadline for submission: 10 July 2024
📑 Full brief: https://go.eurordis.org/apply

🌟 Final call! 🌟

It’s not too late to join our upcoming webinar on 10 July to discuss the launch of the new survey on the impact of rare diseases in daily life. This survey, available in 25 languages, aims to gather invaluable insights from the rare disease community worldwide.

How does your rare disease affect your school life, work, and hobbies? Do you have a disability? Do you feel it is adequately recognised? Share your experiences with us! We want to hear about your day-to-day life.

Join the webinar to learn about the survey's goals, the importance of social participation, and how you can help amplify this initiative, ensuring maximum participation and impact. By joining the Rare Barometer panel, taking the survey or spreading the word through your networks, you can make a significant difference!

📅 10 July 2024
🕒 2:30pm CEST
🔗 Register Here: https://go.eurordis.org/events

Over 2,000 people have signed the ECRD 2024 Open Letter. To build even more momentum, we've extended the deadline to 21 July!

This gives us the chance to add even more weight to our voice. Let's seize this opportunity to make a strong, united statement to the newly elected European Commission this autumn. 🗣️

Sign the letter both as an individual and on behalf of your organisation!
🖋️https://go.eurordis.org/sign

The new EURORDIS Position Paper on Mental Health and Wellbeing details the significant mental health challenges faced by people living with rare diseases and their families and, crucially, what we can do to remedy them!

The paper emphasises the need for specific actions across all policy areas to address these unique needs. The document highlights the connection between physical and mental health and calls for implementing effective programmes, as supported by the United Nations General Assembly Resolution. It advocates for the inclusion of people living with rare diseases in European mental health policies and urges EU Member States to develop national strategies that integrate psychosocial support into standard medical care.

Join our upcoming webinar for more information where ‌Matt Bolz-Johnson, our Mental Health & Wellbeing Lead, will present this blueprint for developing psychosocial programmes to meet the mental health needs of people living with rare diseases and their families.

Register now 👉 https://go.eurordis.org/events

Join4ATMP is a project aiming to accelerate and de-risk the creation of Advanced Medicinal Therapies (ATMPs) in Europe. It aims to ensure wide-spread access of ATMPs through using of real-world data solutions to define new paths forward.

But what are ATMPs?

Through seven questions this article explains the basic tenants of this innovative type of medicine through seven easy questions & answers.

📖 Read now: https://go.eurordis.org/mW15jL

The increasing recognition and diagnosis of rare diseases over the past decade has led to a growing body of knowledge within specialised clinical teams and centres. This expansion is evident in the European Reference Networks (ERNs), which connect over 1,600 clinical teams from more than 300 specialised hospitals. The challenge now is to transform this collective expertise into real-world change that enhances diagnosis, care, and treatment!

The key lies in developing disease-specific measures that reflect the effectiveness of care and treatment available for each rare condition. In the next instalment of our Patient Partnership Webinar series, we will explore examples of such measures, their development, and the crucial role of patient representatives in maximising their impact!

💬 Patient Partnership Webinar – Unlocking ERN Potential: Disease Specific Measures
🗓️ 24 July 2024
⏰ 3PM – 4:30PM CET

➡️ https://go.eurordis.org/events

EURORDIS is seeking an experienced and visionary team to help us update our look! Could it be you? Or someone in you know? 🙋

Our aim is to realign our brand identity with our evolving strategic vision. We seek a modern design that resonates with a wide audience and reflects the heart of our community!

🚨 There are only two days left to make inquiries or request clarifications! 🚨

📄For the full timeline, consult the briefing document: https://go.eurordis.org/apply

Clinical Practice Guidelines (CPGs) are documents that support decision-making in various clinical scenarios, including screening, diagnosis, disease monitoring, treatment, and long-term follow-up. Given their significance, shouldn't patients have a say in their development?

Patient involvement in CPGs' development is a fundamental requirement to achieving patient-centred healthcare. Developed by a consortium contracted by the European Commission to support the European Reference Networks in the development of CPGs, a new Handbook is now available to support the Chair and members of Guideline Development Groups to operationalise patient involvement.

Alongside fellow patient representatives, we contributed to creating this new handbook, titled, “Patients’ involvement in the development of CPGs on rare, low-prevalence and complex diseases: a guide for the chair and members of Guideline Development Groups for patients“. It provides a step-by-step guide to, and relevant considerations for, including the patient community in the process of developing CPGs.

📖 Learn more about CPGs and the new Handbook: https://go.eurordis.org/CPGs