28th February 2019 : Rare Disease Day

Show your Rare, Show you care

28th February will be the International Rare Disease Day.

The 2019 theme will be “Bridging health and social care”. This special day will focus on bridging the gap between medical, social and support services in order to tackle the challenges encountered by people living with rare diseases and their families.

Paris Dermatological Days (JDP)

13th December 2018 in Paris, we ended the year on a high note, with Paris Dermatological Days (JDP).

It was a great opportunity for the French Federation for Skin to go back to work with a new Board of Directors,

new Committee

and new projects that are common to all dermatological diseases.

A great energy to lead us and carry patients’ voice high and strong.

UN Special Rapporteur calls for support for Rare Disease community

UN Special Rapporteur calls for support for Rare Disease community in report to UN General Assembly

Catalina Devandas, UN Special Rapporteur for the Rights of Persons with Disabilities, presented her report to the UN General Assembly. In particular, it states that the lack of accurate diagnosis and effective treatments for the majority of rare diseases is a global challenge. It calls on states to develop and implement policies and practices that target the most marginalised groups of people with disabilities (for example, people with multiple or severe disabilities and rare diseases) in order to improve equity in term of access to care.

(© Orphanews 2018.12.04)

Cross-border care : 10 patient errors

European Commission publishes 10 patient errors in cross-border care

This follows the European Commission’s recent report on cross-border care, which showed that there is still room for improvement in patient awareness of the existence of cross-border care and especially of national contact points. This top 10 includes:

  1. Not being informed on their rights to treatment abroad under EU law
  2. Not planning their trip thoroughly
  3. Leaving without prior authorisation
  4. Not being informed on the financial implications
  5. Traveling without first contacting the National Contact Point
  6. Traveling without the transfer of medical records
  7. Not taking possible language barriers into consideration
  8. Not arranging suitable medical follow-up
  9. Not presenting the required documentation needed to obtain reimbursement
  10. Not being informed on where and how to file a complaint

(© Orphanews 2018.12.04)

4th Conference on European Reference Networks (ERN)

21st-22nd November : The 4th Conference on European Reference Networks (ERN) was held in Brussels (Belgium). To resume the founding concept of the ERNs, suffice to say : «  Get the expertise to travel, rather than patients ». The main thing being that all patients should equally benefit from expertise.


The online consultation platform (CPMS) has already allowed over 250 patients to benefit from this tele-expertise in 2018. However, financing this tele-expertise time is an issue and solutions should be found based on the Cross-border Healthcare Directive.


Those days, shared with two other patient representives of ERN-Skin – Ingrid Jageneau (Belgium) and Ingrid Holzer (Austria) – provided, in plenary and side sessions, an overview of successes and those issues that remain pending.


For instance, the need for information and communication from and about ERNs to be widely developed, in all languages, so that the role of ERNs is known by all, practitioners and patients. In this respect, patients’ associations will have to play a major role.

Likewise, the sustainability of the ERN model was one of the hot topics at the conference. National engagement as well as public-private funding models for some activities, without compromising ERN’s independence, need to be high up on the agenda in the coming months and years. Improving health outcomes and wellbeing for European Patients suffering from rare diseases depends on that.

3rd FIMARAD National Day

In Paris, on 16th  November 2018,  the 3rd (Rare Dermatological Diseases  Channel) National Day allowed to take stock of the work done during the year and projects in progress.

The opportunity to meet again with the Chairs of other French support groups for dermatological disorders members of FIMARAD and  talk about the possible common work we can do locally. A friendly working day.


EURORDIS-Rare Barometer Voices

EURORDIS-Rare Barometer Voices (24.10.2018)

Results of the survey on sufferers’ participation in research

 3213 patients answered, from 42 different countries

It is mentioned that no treatment is available for the great majority of disorders or few are accessible.

For research respondants, the 3 main obstacles for research are :

  • Lack of funding, essentially public
  • Lack of private funding…..also
  • Low number of patients

For patients, the 3 priorities are :

  • Developing therapies
  • Improving diagnosis
  • Identifying the causes and mechanisms of the disorder

1/3 of patients have already taken part in research projects such as:

  • Development of treatments and therapies
  • Quality of life
  • Development of gene therapies

The most important factors for patient participation are:

  • Helping science and other disorders
  • Receiving clear information on the research project
  • Having a good relationship with researchers

Alabama Rare Diseases Advisory Council

Alabama Rare Diseases Advisory Council held its first meeting

The Alabama Rare Diseases Advisory Council, headquartered at the University of Alabama at Birmingham School of Medicine, aims to advise the governor and legislature on research, diagnosis, treatment and education regarding rare diseases. Its duties include collecting data on rare diseases and coordinating diseases collaborations between stakeholder organisations. The collaboration between legislators and rare disease advocates of the state worked to create the Alabama Rare Diseases Advisory Council in the hopes that the state would take a leadership position and provide policies that will benefit the residents of the state affected by rare diseases.

(© Orphanews 2018.10.10)

Improving life journey for children suffering from rare disorders

The partnership signed, 3 years ago, between Fondation Groupama and Hospital Necker for Sick Children aimed to give families the means and necessary autonomy to build a real life journey for their children. The main aims of the project were :

  • To Identify the breaks in the child’s life journey and find answers and actionable levers to improve their quality of life;
  • To Increase awareness of the social issues raised by rare disorders ;
  • To Work out a specific method to promote families’ autonomy.

A group of 50 families with children aged between six months and 18 was thereby established and a portrait of the quality of life for families with a child suffering from a rare disorder was drawn. Based on this portrait, a method and new tools were created by social workers who support families of young patients suffering from rare disorders. Two main tools will help improve those children’s life journey :

  • A standardized conversation chart to harmonize practices and take into consideration the context, widely speaking, (environment, family situation, etc ) of the child’s and family’s life which will help anticipate the potential breaks in social support ;
  • A communication book which allowed the 55 families to coordinate the various healthcare providers caring for the child, identify important documents and become actors in their child’s global care.,.

According to the press release published earlier this year « new challenges will be taken up in 2018 so that the tools conceived and tested during these past three years  do not remain « Necker tools » but become national helps ».

(©orphanews 2018.01.25)

Funding the French Centers of Reference

From several months and continuing, the Public Authorities have been warned about the difficulties the Centers of Reference are facing to access their dedicated funds.

On one hand, in 2017, important amounts were withdrawn from the Centers of Reference and on the other, the Assistance Publique Hôpitaux de Paris (the Organisation managing hospitals and Centers of Reference) is not distributing the Centers of Reference the whole amount of the funds due to them.

After an emergency meeting on 14th May, which gathered 42 patient organisations and 80 coordinators from Centers of Reference, a letter has been sent to the Minister of Health, Mrs Agnès Buzyn, calling for a meeting with delegates to discuss the following proposal :

  1. To provide, at the national level, clear orders for an urgent release of the funds due to the Centers of Reference accompanied by the necessary audit trail ;
  2. To abolish the contradiction implicit in the moratorium dictated by certain hospitals and to allow the use of dedicated funds to recruit the staff needed to sustain expert missions ;
  3. To establish an evaluation of the consequences of the new calculation rules for endowment that seriously threaten question the survival of some centers ;
  4. To define priorities and the officials with whom we will continue to work.


We hope this request will be heard because the difficulties the Centers are facing have serious consequences for patients, healthcare providers and research teams.