Prof. Christine Bodemer is the head of the department of dermatology at Hôpital Necker - Enfants Malades, in Paris, France. She is the coordinator of MAGEC a leading French and European Centre of Expertise in the field of rare skin diseases and of FIMARAD a national network gathering the centres providing high-level patient management for patients with rare skin diseases.
What role does your centre play in the treatment of genodermatoses and rare skin disorders ?
Genodermatoses are rare genetic skin disorders. Handicap, short life expectancy, exclusion make patients and families vulnerable. At present time, there is, in most cases, no cure for rare skin diseases. Treatment is symptomatic and the patients require multidisciplinary care with specially trained health care providers.
Since 2004, MAGEC provide high level medical and paramedical multidisciplinary approach for children, adults and families with rare skin diseases thanks to :
- a local and national network including partnerships between hospitals and private practice
- recommendation and guidelines for diagnosis and healthcare for professionals as well as patient and families
- therapeutic education with leading programmes for ectodermal dysplasia, epidermolysis bullosa, ichthyosis and xeroderma pigmentosum
- training of healthcare providers (workshops, practical trainings, leaflets)
- evaluation of the individual burden of diseases and the quality of life of patients
- epidemiological surveillance
- translational clinical and therapeutical research at the national and international level
- partnership with patient groups
- organisation of national and European healthcare pathways though the coordination of FIMARAD the French Rare Skin Diseases Network and the coordination of the Genodermatoses Network, the European and International network for patients and professionals with rare skin diseases
MAGEC is a leading French and European Center of Expertise in the field of rare skin diseases and a multi-site center gathering the Departments of Dermatology of 3 hospitals located in Paris area: Hôpital Necker Enfants Malades, Hôpital Saint-Louis and Hôpital Avicenne. We have a dedicated website (in French) : http://www.magec.eu
How is organised, in France, the health care and social support of genodermatoses patients?
Thanks to the French Plan for Rare Diseases, national healthcare pathways for patients with rare skin disorders are now set up. FiMARAD - FIlière des MAladies RAres en Dermatologie - is the name of our national network on rare skin disorders.
We have now a dedicated website, www.fimarad.org providing information about the 6 centers of expertise as well as their affiliated health care centres in France.
We have also very active patient groups in France providing advice and support to families.
What are your expectations regarding a ERN on rare skin diseases? According to you what is the main goal to be reached by a ERN on rare skin disease ?
I think that the main goal to be reached by a ERN on Rare Skin Disorders is that every patient may find a diagnosis and excellent care for his condition at the different ages of life. Each patient needs to know where to go...
That seems simple but that’s really challenging !
That’s ten years now that the Genodermatoses & Rare Skin Disorders Network is working to improve health care and social support for patients and families.This Rare Disease European Reference Pilot Network provides now the following services :
- an interactive directory for patients and health care providers
- live training courses
- e-training sessions
- international meetings gathering all the stakeholders involved in the management of patients and their families
- awareness campaigns on rare skin diseases
- information on resources for rare skin disorders
- advice to implement dedicated services for patients with rare skin disorders in the departments of dermatology
There is still a long way to go to provide appropriate health care to every patient with rare skin disorders all over Europe. Indeed, rare skin disorders cover around 400 hundred diseases and the care involves many specialities: dermatologists, nurses, physiotherapists, geneticists, anesthesiologists, psychologists, social workers, dentists etc.
So, the ERN should help us to structure and organize health care pathways so every patient knows where to go. This also should support a strong cooperation with every single stakeholder involved in the process: the health care providers, the patient groups, the industry (ERNs being also a great opportunity for them), the public health authorities, etc.
In a second step, once patients know where to go, receive appropriate diagnosis and care, there will be the opportunity to create clinical cohorts. That’s really important as is the basis to participate in large study including possible therapeutic trials with a good knowledge of the patient.
I really hope all of this would lead to a real improvement of the everyday life of patients ...for the benefit of all!
Why international cooperation beyond Europe is also important?
There are genodermatoses and rare skin disorders in all countries ! International cooperation in the field of rare diseases is essential and is the leitmotiv of the Genodermatoses Network. This network gathers now more than 75 medical and research teams as well as patient groups in more than 30 countries. It first developed in Mediterranean and Middle-Eastern countries and they hosted many of our yearly meetings: Algeria in 2004, Lebanon in 2005 and 2014, Tunisia in 2006, Egypt in 2007, Morocco in 2008, etc.
So, we work with many different countries but we collaborate also with major specialist and patient networks such as Geneskin, EB-clinet, the European Network for Ichthyosis, Debra International, Eurordis, etc.
As the experience and knowledge is scarce in the field of rare skin disorders, we have many things to exchange and discuss: guidelines, organisational issues, and so on...even little tips who could help patients and families in their everyday life (we made an international survey in 2011 on that specific issue).
I think that the most important is to generate interest in these diseases. Even without major funding, if you want to take care of these patients, you can manage to get organised and to gather the different specialists, the medicals and paramedicals, the nurses, the psychologists, the physiotherapists and so one. And creating this structure where everyone gather around the patient is already a success!
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