David Ross, a RARE revolutionary

In its issue N°15, april 2020, Rare Revolution Magazine publishes an interview with David Ross, one of our members.

COVID-19 PANDEMIA

PATIENTS WITH RARE CUTANEOUS DISORDERS ASSOCIATED WITH  RECOGNISED PULMONARY SYMPTOMS AND/OR MANIFESTATIONS ARE AT RISK

i.e. patients with abnormalities of the connective or elastic tissue, patients with severe denutrition, patients with severe scoliosis and respiratory insufficiency, etc.

HAVE THE SAME RECOMMANDATIONS AS ALL AT RISK PATIENTS SUFFERING FROM A RARE DISORDER.

AND REMEMBER TO :

  • Wash your hands as often as needed
  • Sneeze and/or caugh in your elbow and use a disposable tissue
  • avoid shacking hands and huging
  • Keep a one meter distance from others

 

 

Welcome

New Contacts, Families’ News

A warm welcome to the CL patients who joined us in 2019 :

Lilah, Angie, Nathan, Jessie, Cassius, Akim, Felicity, Kofi, Kollin, Grace, Ashley & Janet, in the U.S.A,

Fernanda in Brazil,

Olive in Australia

Qamar in Egypt,

Moctar’s son,  the first patient we know of in Senegal.

River,  Meagan & her mother, in Canada

Tina, Rhian in Great-Britain

Zeynep in Turkey

Anaaya in India

Welcome to all of you. We now are 413 patients worldwide that are not alone

Does “Gaston Lagaff”, cartoon character, have Ehlers-Danlos Syndrom ?

Humorous, but very serious

Pr Mickaël Dinomais, Professor in Physical and Readaptation Medicine, at the University of Angers (France), published a very interesting article.

He studied the famous French cartoon character “Gaston Lagaff” and, considering all the clinical features and symptoms, could diagnose that he suffers from Ehlers-Danlos Syndrom.

This is a very interesting and entertaining way to describe a disorder.

Read the all article, in French, at :

http://theconversation.com/gaston-lagaffe-a-t-il-un-syndrome-delhers-danlos-130907

 

FIMARAD VIDEOS

YOUTUBE CHANNEL FOR RARE DERMATOLOGIC DISEASES

 

The French Network for rare dermatologic diseases has launched its youtube channel wher are posted videos about various issues (French talking):

Aesthetic Disability  

https://www.youtube.com/watch?v=WO0FlVQ1B2k

 

Local Houses for Disabled People (MDPH)

https://www.youtube.com/watch?v=WO0FlVQ1B2k

 

Corrective Make-up

https://www.youtube.com/watch?v=US7frbb9atw

THE GOSPEL CHOIR SINGS FOR CLI

Shortly before lockdown, the Gospel choir had organized a masterclass and we were given the benefits. Cécile, together with her brother and her sister took part in this singing and joyfull afternoon.

Dill Extract Induces Elastic Fiber Neosynthesis

Dill Extract Induces Elastic Fiber Neosynthesis and Functional Improvement in the Ascending Aorta of Aged Mice with Reversal of Age-Dependent Cardiac
Hypertrophy and Involvement of Lysyl Oxidase-Like-1

Wassim Fhayli 1, Quentin Boëté 1, Nadjib Kihal 2, Valérie Cenizo 3, Pascal Sommer 4,
Walter A. Boyle 5, Marie-Paule Jacob 6 and Gilles Faury 1,*
1 Univ. Grenoble Alpes, Inserm, CHU Grenoble Alpes, HP2, 38000 Grenoble, France;
wassimfhayli@gmail.com (W.F.); boete.quentin@gmail.com (Q.B.)
2 Laboratoire de Phytochimie et de Pharmacologie, Département de Chimie, Université de Jijel, Jijel 18000,
Algeria; nadjib.kihal@icloud.com
3 L’Occitane en Provence, 04100 Manosque, France; val.cenizo@gmail.com
4 Institut de Biologie et Chimie des Protéines UMR5305—LBTI, CNRS, 69367 Lyon, France;
pascal.sommer@univ-amu.fr
5 Department of Anesthesiology and Critical Care Medicine Division, Washington University School of
Medicine, St Louis, MO 63110, USA; boylew@wustl.edu
6 INSERM, U1148, and Hopital Bichat-Claude Bernard, 75018 Paris, France; marie-paule.jacob@orange.fr
* Correspondence: gilles.faury@univ-grenoble-alpes.fr; Tel.: +33-4-76-63-75-39

 

The only article describing the stimulation in vivo of the protection and synthesis of elastic fibers.

Full article : http://www.cutislaxa.org/wp-content/uploads/2020/02/Fhayli-et-al-2020-biomolecules-Dill-mice1.pdf

 

THE PATIENT JOURNEY

THE PATIENT JOURNEY

(European Journal of Human Genetics : “ Patient Journeys” : improving care by patient involvement https://www.nature.com/articles/s41431-019-0555-6)

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)