ERN-Skin Activities

19th February : First ERN-Skin Scientific Day

114 doctors and researchers attended. Each thematic group presented the work done on the disorders they are concerned with.

For the Heritable Connective Tissue Disorders (HCTD), a study is taking place in the Netherlands to evaluate prevalence and severity of fatigue, pain, disability and global health for children and teenagers suffering from the most common HCTD.

Other topics were presented such as interconnections between nervous system and skin system, and also innovative methodologies

 

8th June : ERN-Skin Executive Committee

During this meeting  the agenda was very fully.

Marie-Claude Boiteux presented the epags’ work on « Patient Journeys » for each disorder concerned by ERN-Skin,

And then the Patients Satisfaction Survey, Registries,

e-learning,

the SPOT application,

Exchange programme,

Results of 2020

and organising, in Paris in 2022, the next Rare Skin Diseases World Congres –

these wide ranging questions showed ERN-Skin’s dynamism and how it implements concrete projects.

workgroups, training and information for Patient Representatives (ePAGS

On 18th March

« Good Practice : How to measure results, What is Quality of Life, How to build up a survey, …»

On 9th June 

ePAGS Steering Committee meeting

The first half of the year was quite busy with Eurordis

On 12th May : Annual Members meeting

on 10th June : Annual General Meeting

Setting up RDI (Rare Diseases International), editing surveys on a regular basis (Rare Barometer), helping patient representatives in the European Reference Networks (ePags), European Conference on Rare Diseases (ECRD), advocating at the European (EC) and international (UN, WHO) levels, etc…

The actions led by Eurordis have changed, change and will continue to change the quality of life and care for people living with a rare disease in Europe and worldwide.

There is no lack of work.

Globalskin (International Organisation for Skin Disorders) held two events early this year

On 25th February : Webinar : « The Power of the Patient Community in the Rare Diseases Movement » with a great presentation from Dr Ségolène Aymé, first CEO of Orphanet.

On 3rd March : Structuring the European Community for Skin Disorders inside Globalskin.

 

Rare 2030 conference update

On 23rd February : The European Commissioner for Health and Food Security, the French and Czech Republic Ministers of Health and Members of the European Commission opened the RARE 2030 Conference, gathering almost 590 attendees together. After two year of continuous work, Eurordis and the European Community annouced the 8 recommendations arising from this work. The future of rare diseases over the next 10 years starts now, comprising :

  • A European policy framework ;
  • Earlier, faster and more accurate diagnosis;
  • A highly specialised healthcare ecosystem ;
  • Guarantee the social and economic integration of people living with a rare disease;
  • Encourage the meaningful participation, engagement and leadership of people living with a rare disease;
  • Rare disease research is maintained as a priority;
  • Data is used at its maximum ;
  • Improve the availiability, accessibility and affordability of rare diseases treatments.

RARE 2030

On 23rd February 2021, celebrating 2021 Rare Disease Day, Eurordis held the “Rare 2030 Final Policy Conference”.

Over 1100 participants representing all stakeholders groups of the rare disease community took part in this event, learning, exchanging and celebrating together.

Find here the Rare 2030 Recommandations

Have a look at Rare 2030 website

Rare Disease International (RDI) Activities

Rare Disease International (RDI) organised several events in the first half of 2021:

On 14th January , Webinar : Key Issues for a UN Resolution for Rare Diseases :

Inclusion and Human Rights, Appropriate Care, National Stategies, Rare Diseases in the UN System, Monitor Progress and Implementation.

 

 

On 4th February, Webinar : « World Health Organisation Collaborative Global Network for Rare Diseases » (WHO CGN4RD) :

Implementation of  Universal Health Coverage from care to treatments; Expertise; Structured Activities under thematic « Programmes of care »; Exploit advancement in technology and innovation; Collaboration Plateforms ; Sharing networking expertise and global knowledge ; Research, clinical trials and registries.

 

 

On 25th and 26th May : RDI members meeting and Annual Report :

In 2020 RDI’s activities were equally internal, with webinars for its members and external with outreach to Permanent Missions to the UN in New York.

 

The aim is to promote Rare Diseases as a priority in International Policy and work towards a UN General Assembly Resolution for Rare Diseases with sustainable development goals.

“Hacking Health” Challenge in Lyon (France)

During three days (14th, 15th and 16th January 2021) we took part in a Health Projects Contest to “Bring Innovation to Healthcare”.

The name of our Challenge was “Rare Disorders : How to reduce the diagnosis odyssey”

 

 

 

 

 

 

 

We presented an application called “Unknown but Recognized” and even if we finish last, it was the occasion to meet young computer scientists willing to developp a diagnosis application.

We are still working with them and sincerely hope that they will succeed.

20 YEARS AGO ……

Cécile was diagnosed in 1992.

8 years later, she appeared for the first time on TV screens.

On 11th November 2001 we set up Cutis Laxa Internationale. But there was no research programm. We knew of 9 patients.

One month later,  we appealled on TV screens during the Telethon (Fudraising event). We needed a 10th patient for a research programm to be launched.

Annie Moissin, who was responsible for relationship with patients for orphan disorders at that time, heard our call. She tells here (in French) what happened next.

Thanks to you Annie,

Thanks to Solhand of which you are now the Chair.,

One can do nothing alone, Together we are stronger, we go further.

Marie-Claude Boiteux

Chair of Cutis Laxa Internationale,  Cécile’s mother

Patients Representatives’ (EPAGs) work in 2019-2020 in the European Reference Network-Skin (ERN-Skin)

During the 5th annual meeting of the French Health Network FIMARAD (Network for Rare Cutaneous Disorders), Marie-Claude Boiteux presented the ePAGs’ work for Patients in ERN-Skin (in French at 9:57)

Here is how you can get subtittles in your own language :