(European Journal of Human Genetics : “ Patient Journeys” : improving care by patient involvement

Rare Skin Disorders are gathered together in the European Reference Network-Skin. Those disorders have multiple common points: late diagnosis, none or few treatments, difficulties facing other people’s gaze, etc. The burden those difficulties represent is not always known by healthcare professionals. The Patient Journey is too often an Assault Course.

In order to help healthcare professionals better understand that burden, better manage it and thus give patients a better quality of life, patients must, themselves, evaluate their journey and make it known.

This is why patient representatives in all ERNs will circulate an evaluation grid to all patients.  This « Patient Journey » grid gathers together the different stages that are inherent to each disease. Then each stage is described in 3 levels : Clinical presentation, challenges and needs identified by the patient, goals to improve care. The grids are then reviewed by both patients and professional experts.

Finally, this grid of the “Patient Journey” will allow patients to discuss their individual needs with only one aim : to improve care and quality of life. The “Patient Journey” will also be an important element in sharing knowledge from both patient’s and healthcare professional’s points of view.

WHO (World Health Organisation) signs a memorandum of understanding with Rare Disease International (RDI).

WHO (World Health Organisation) signs a memorandum of understanding with Rare Disease International (RDI).

According to this memorandum, the activities carried out as part of this agreement to collaborate will include goals and actions timed around WHO 13th Programme of Work that runs until 2023.

In the first year, they will focus on harmonising the way rare diseases are defined internationally and on laying the ground for the development of a global network of centres of excellence for rare diseases

(© RDI newsletter 2019.12.19)

Rare Diseases are included in Universal Health Coverage (UHC)

At last Rare Diseases are included in the United Nations political declaration on Universal Health Coverage (UHC)

On 23rd September, two years of active advocacy by Eurordis and Rare Disease International were crowned with succes as the 193 member states of the United Nations adopted a historical political declaration on UHC including rare diseases.

The principles of UHC state that all individuals and all communities must have access to the health services they need without any financial hardship.

(©eurordis newsletter 2019.12.11)

Report on “Disability and rare disease: towards person centered care for Australians with rare diseases”

AUSTRALIA : Report on “Disability and rare disease: towards person centered care for Australians with rare diseases”

The recommendations of this report, commissioned by Rare Voices Australia, on behalf of partner organisations and people living with rare disease, were launched at the Parliament.

They are focused on reforms which would deliver integrated care for those with health and disability care needs, improve the understanding of rare diseases by health and disability care workers and ensure that the systems can respond to the changing needs of people with rare diseases that are complex and sometimes difficult to predict.

(© orphanews 2019.12.06)


03rd  December  First Conference on Skin and Annual Meeting of the French Federation of Skin during the Dermatology Days of Paris.


The presentation of Pr Andrew Y Finlay from Cardiff  University highlighted the questionnaire on Quality of Life for patients with skin disorders, may they be rare or not.

This questionnaire should be proposed to patients by all dermatologists.

After this Patient Organisations took stock of their activities and difficulties.


26 – 27th November  Leadership School organised by Eurordis.

After several online  courses throughout the year, patient representatives in the ERNs met in Barcelone for the last two training days in Leadership.

We will be issued with a Diploma at the end of the course.

Even if the Catalan setting tasted like summer vacation, it was two days of real and hard work during which we increased our natural capacities and skills to become more efficient when interacting with health professionals in the ERNs.



The aim of this Leadership school has been reached as we gained the competences required to improve the way we bring patients’ voice forward where it matters most.


World population affected by a Rare Disease

New evaluation of the world population affected by a Rare Disease :

In an article published by Orphanet, Orphanet Ireland and Eurordis, the prevalence of rare diseases is of 3,5 to 5,9 % of the worldwide population.

Rare cancers, infectious diseases and poisoning are excluded from this prevalence.

Thus there is an approximate average number of people affected by a rare disease of 300 million worldwide.

(©orphanews 2019.10.08)

ERN-Skin Board Meeting 2019

ERN-Skin Board Meeting in Necker Hospital in Paris.

Two days of intense work, whether in plenary session or in thematic groups.


Patient representatives could express their wishes and dialogue with doctors and researchers to establish together the roadmap for the coming years.

There is a huge amount of work to do but our will and synergy will allow diagnosis, care and treatment for patients to improve at the European Union level




An article published in Bioscience Trends acknowledges the great recent advances in the area of the needs of patients affected by rare diseases, but also highlights the recurrent difficulty in diagnosis and misclassifications.

As a whole they emphasise the need for a more comprehensive and complete healthcare and social care system and advise the implementation of regional plans.

(© orphanews 2019.09.18)

Helplines for Rare Disorders worldwide

Helplines for rare disorders worldwide
Country Organisation      Helpline & other modes of contact
Canada Rare Disease Information and Resource Centre +385 12441393  –
Croatia   * Croatian Help Line for Rare Diseases +385 12441393  –
Facebook group
Denmark * Rare Diseases Denmark +45 33140010  –
France * Maladies Rares Info Services (MRIS) + 33 156538136  –
Germany ACHSE Betroffenen- und Angehörigenberatung +49 3033007080  –
Hungary * Lifebelt +36 617904533  –  –
Ireland * National Rare Diseases Office (NRDO) +353 1800 24 03 65 or + 353 18545065  –
Italy * Università di Padova, Coordinating Centre for Rare Diseases, Veneto Region + 39 049 82 15 700  –
Italy * Telefono Verde Malattie Rare +39 800896949  –
Italy * Centro di ascolto malattie rare +39 800 880101  –
Italy * Centro di ascolto per le malattie rare del Piemonte e della Valle d’Aosta +39346.1059486  +39339.5203554 –
Mexico AcceSalud
Norway Norwegian National Advisory Unit on Rare Disorders Oslo University Hospital +47 23 02 69 75  –
Portugal * Linha Rara +351 300505700  –
Romania * Romanian National Alliance for Rare Disease (NoRo Help Line) +40 260611214  –
Romania * Romanian Myasthenia Gravis Info Centre +40 744704399  –
Serbia * NORBS +381 800333103  –  –
Spain * SIO Feder +34 918221725  –
Switzerland * Infos Maladies Rares +41 848314372  –
Switzerland * Seltene Krankheiten +41 442663535  –  –
USA GARD Genetic and Rare Diseases Information Center +1 8882052311
Wolrdwide ThinkGenetic

medical advice from Genetic counselors :