On May 14th and 15th OIFE was well represented at the online European Conference on Rare Diseases (ECRD) with 5 representatives, including OIFE president and OIFE Youth Coordinator. In addition 3 people from the OIFE-community attended the event on behalf of other stakeholders. The ERCD conference was originally planned to take place in Stockholm. 1,500 people from 57 countries registered for the conference, which is recognized globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

The conference was divided into 6 themes and we tried to spread out, so we had people from OIFE attending all themes:

  • Theme 1 – The future of diagnosis: new hopes, promises and challenges
  • Theme 2 – Our values, our rights, our future: shifting paradigms towards inclusion
  • Theme 3 – Share, Care, Cure: Transforming care for rare diseases by 2030
  • Theme 4 – When therapies meet the needs: enabling a patient-centric approach to therapeutic development
  • Theme 5 – Achieving the triple A’s by 2030: Accessible, Available and Affordable Treatments for people living with a rare disease
  • Theme 6 – The digital health revolution: hype vs. reality


OIFE was also well represented among the speakers. Rebecca Tvedt Skarberg, who is also an ePAG in ERN BOND, gave one of the opening talks about future scenarios for rare diseases connected to the Rare2030 project, which got a lot of positive feedback. She also contributed as a speaker in two of the sessions later in the program. See another post about the Rare2030 scenarios.

One of the other opening speakers besides Rebecca were David Lega, who is a member of the EU Parliament, living with a rare condition himself.
See his opening talk through this link.

All 29 ECRD sessions are available on demand for you to access via the same online platform for one year after the conference! If you didn’t already register for ECRD, you can register now at new preferential rates to access all session recordings.






Are you affected by a rare disease or a caring for someone affected by a rare disease? Then we strongly encourage you to share your experience on how the #COVID19 pandemic is having an impact on your life by completing this survey.

The survey is developed by the rare disease umbrella EURORDIS – European Rare Diseases Organisation and is available in 23 languages and open to rare disease patients, family members and carers around the world.

The main objectives of the survey are:
– Evaluate the impact of COVID-19 on rare disease patients’ medical care, social care and well-being.
– Identify measures and facilities that are helping rare disease patients to cope with the pandemic
– Identify aspects that may have a negative impact on rare disease patients care and well-being
– Identify potential long-term consequences of the pandemic

If enough people with OI answers worldwide – the OIFE can get useful data on consequences for people with OI specifically, which we can use in our policy work.





Discrimination in Critical Care Guidelines

The rare disease community raises alert over discrimination in #CriticalCare guidelines during COVID-19 pandemic. Read the statement from EURORDIS to see proposals for healthcare practitioners on how to avoid discrimination against people living with a rare disease and provide optimal care during #COVID19

OIFE supports EURORDIS in their view that critical care guidelines must be non-discriminatory and should be respectful of fundamental ethical principles and based on “clinical appropriateness and proportionality of the treatments”1 . They should be aligned with international law, notably the UN Convention on the Rights of Persons with Disabilities (article 11 & 25) and the UNESCO Universal Declaration on Bioethics and Human Rights, as well as disaster medicine ethical guidelines.



OIFE at EURORDIS Winter School

EURORDIS launched Winter School with the aim of deepening patient representatives’ understanding of how pre-clinical research translates into real benefits for rare disease patients. The training equips participants with knowledge and skills so they are empowered to effectively participate in discussions with the researchers, policy makers and companies responsible for research or research infrastructures. The 2nd edition of training was planned held from 9-13 March 2020 in Paris. The event was moved to Zoom and Claudia Finis from Germany represented the OIFE. The course covered topics including the history of genetics, diagnostics, new technologies in gene therapy and drug repurposing.


Rare Disease Day events in Brussels

EURORDIS ’Reframe Rare’ Policy Event

On February 18th at the European Parliament EURORDIS – European Rare Diseases Organisation was relaunching the Network of Parliamentary Advocates for Rare Diseases, made up members of parliament (MEPs) advocating to improve the lives of the 30 million people with rare diseases in Europe.

The EURORDIS ’Reframe Rare’ Policy Event was held to mark the occasion of Rare Disease Day, the global campaign with events in 100+ countries around the world.

Participants heard from event co-hosts MEPs Tanja Fajon, Stelios Kympouropoulos and Frédérique Ries, as well as MEPs Kateřina Konečná and Tomislav Sokol, who hosted conversations with patient representatives from across Europe including Rebecca T. Skarberg from OIFE, on topics including research and innovation, access to medicines, holistic care and cross-border health are and access to specialized care. OIFE Vice President Dace Liepina was also present as one of the participants.

Black Pearl Awards Ceremony

Later in the evening Rebecca T. Skarberg, Knut Erik T. Skarberg and Dace Liepina attended the Black Pearl Awards as invited guests by EURORDIS. Read more about this year’s awardees and see a recording of the event here.


CEF-meeting in Brussels

Céu and Yann Le Cam (CEO of EURORDIS).

On November 8th Céu Barreiros (treasurer) represented OIFE at the Council of Federations-meeting in Brussels hosted by EURORDIS. The Council of European Rare Disease Federations (CEF) provides a platform for the exchange of experiences and information across federations working for different diseases or group of diseases.

The council also allow federations to work together on strategies that might influence policies makers. Usually representatives from the rare disease federations meet in Brussels or Paris once every autumn.

CEF-topics in 2019

Among the topics of the meeting of the 2019-meeting were status on European Reference Networks (ERNs), funding for rare disease research through Horizon Europe, news about the European Union and access to new therapies for people with rare diseases in Europe.

Anja Helm (contact person for CEF in EURORDIS) and Céu.

The Council enables European federations like OIFE:

  • to share information and experience relevant to activities and issues they have in common across their specific  rare diseases at the European level,
  • to discuss and implement common activities within EURORDIS,
  • to enhance or build their capacities as European Federations gathering patient groups from different countries for their specific disease or group of diseases,
  • to foster their voice at the European level for their respective diseases,
  • in order to –directly or indirectly- fight against the impact on the lives of people living with the rare diseases these European federations are specifically addressing.

You can find reports from all the CEF-meetings at the webpage of EURORDIS.




This is not a person

Mr. Pablo Ostarek from Spain has OI himself and is a film maker by profession. Now he has a new project, with the topic of overprotection, something many people with OI can relate to.

We have asked him to tell us a little bit about his project and his intentions behind the film Esto no es una persona (This is not a person), which is an investigative piece on the overprotection that people with rare diseases suffer in their close family and social circles.

Can you tell us the story behind the title?

Our title This is not a person alludes to the concept of stripping someone of their humanity by not treating them, or even seeing them, as a human being because of a physical disability. People see the wheelchair, but they don’t think twice about the person using the chair.

Are you aiming at an international audience?

As we are filming in Spain we decided to present our Indiegogo campaign in Spanish, but we quickly decided to make an English translation as well. We do believe that the film has a worldwide appeal, so we will be creating subtitles in as many languages as we can, so it can reach as many people as possible. At the moment we don’t have enough funding to finish the movie, but if you feel strongly about the topic overprotection, we are grateful to receive your support.

Why overprotection?

In This is not a person we are going to tell the story of Elisenda Carballo, a 44 year old woman with OI that has never truly gotten over the overprotection she went through at the hands of her parents. We are not only going to tell her story – as this is an investigative film, we are going to analyse the consequences and reasons behind this “overprotection”. We want to understand in what way it affected Elisenda and the people close to her, as well as why this stigma surrounding rare diseases exists and why it constantly repeats itself.

And why overprotection? It is actually quite simple. I have found that anyone I speak to, that finds themselves in a similar situation as mine, usually agrees:

The hardest thing about having osteogenesis imperfecta (OI) was never the pain of breaking a bone, or the physical discomfort one has to go through during the weeks or months that follow. The worst part has always been the social exclusion. The feeling of not belonging to the rest. One forgets the acute pain of a fracture. We are all built that way; but the other type of pain might last forever.

Below you can find the trailer of the film with English subtitles.




OIFE in Barcelona

Today OIFE is represented by vice-president Dace Liepina at the 28th EURORDIS Round Table of Companies Workshop in Barcelona – “A New PARADIGM of Meaningful Patient Engagement in the Life Cycle of Medicines”. The event is an annual seminar for representatives from industry (pharma) and from EURORDIS and their member organizations.

This year, the workshop will provide information to its participants with the following objectives:

  • Understand which good practices EURORDIS promotes and implements for working with patients to develop therapies for rare diseases
  • Understand the objectives of PARADIGM and how to enable meaningful patient engagement in the product life-cycle as a whole
  • Reflect on the return on engagement as a win-win process between developers and patients
  • Learn about patient expectations with regards to the value of patient engagement (financial value, quality, representativeness)
  • Learn how to implement a Monitoring and Evaluation Framework in your patient engagement activities
  • Understand and use metrics for evaluating Community Advisory Boards (CABs)
  • Reflect and raise awareness on the management of competing interests in a multi-stakeholder environment

You can read more and download the full programme and the concept paper from EURORDIS here.



Registries in Rome

OIFE’s honorary member Taco van Welzenis recently attended the International Summer School on Rare Disease Registries and FAIRification of Data in Rome, Italy from Sep. 23rd – 27th 2019. It was a part of a series of training activities proposed by the European Joint Programme on Rare Diseases (EJP RD). You can download the agenda of the course here.

The Course was made up of 5 days of residential training organized by Istituto Superiore di Sanità (ISS) in close collaboration with other stakeholders.

Registries are key resources in order to increase timely and accurate diagnosis, improve patients management, tailor treatments, facilitate clinical trials, support healthcare planning and speed up research.

This course was composed of two training modules:

Module 1:
“Rare Disease Registries” where the participants learned
(a) what resources are needed for the establishment / maintenance of a high quality registry
(b) the features of successful strategies to ensure long-time sustainability of the registry, quality, legal and ethical issues in compliance with the EU General Data Protection Regulation and FAIR principles.

Module 2
“FAIRification of data” enabled the participants to work with IT-trainers learn more about the FAIR principles. The potential of a FAIR registry, as the basis for cross resource questions, were demonstrated by executing a query across the use cases that become FAIR. A time slot was allocated to discuss FAIR data management and FAIR project planning.

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