Reference centers are entities labeled by the Ministry of Health, bringing together the highly specialized medical and paramedical skills for the management of rare diseases and answer the patient’s needs.
- To improve access to diagnostic services
- To define a comprehensive care strategy for the provision of medical treatment, psychological care and social support.
- To ensure that the patient and family have all the information that they need
- To supervise and coordinate the non-specialist health care professionals responsible for the everyday care of patients; ensuring they are well-informed and trained in the care of the patient’s pathology.
- To take part in epidemiological surveillance and research promotion and conduct therapeutic trials.
- To be involved in establishing professional best practice benchmarks as regards the disease in collaboration with other groups working in the same field both nationally and internationally
- To be involved in the broad dissemination and follow-up of rare disease treatment options and orphan medicinal products.
- To engage in dynamic coordination with other centres providing services caring for the same pathology group.
- To represent the administrative authorities and the rare disease patient associations in an effort to improve service provision and enhance the quality of life of patients and families living with a rare disease.
To facilitate the overall comprehensive and ongoing care of patients and their families
Within the centre of reference
- To liaise with the various medical professionals (doctors, electrophysiologists, laboratory physicians, radiologists, etc.) in order to ensure a coordinated strategy providing optimal care
- To provide ongoing support for families and patients (support, information, education)
Follow-up care after hospitalisation
- To ensure that the care plan proposed during the consultation (health cover, functional reeducation, educational guidance, medical follow-up) translates to the patient's practical every day reality, through working with representatives of relevant aspects of the care network.
A. Take on any preparatory work for the multidisciplinary consultation
- Ensure that patient information (information concerning the patients and their families) is up to date so that the consultation can best target real needs
- Medical history previous to the consultations, update case histories
- Patient records
- Evaluation of the patient's current situation (degree of impairment)
- Plan care program for consultations, outpatient hospital care or day care, facilitate the patient's visit to the Centre of Reference
- Take care of administrative files
- Organise any help with transport/ transport costs
- Organise accommodation for accompanying family members, possibly outside the hospital
B. Be present at consultations and specific medical examinations
- Be present at key moments (reception, information)
- Oversee any examinations - the taking of samples, blood tests and also medical tests like lumbar puncture or muscle, nerve, skin biopsy etc.
C. Ensure patient follow-up over the course of care provision
- Collect test results
- Care plan follow-up
- Attend case conference meetings
D. Take care of any problems specifically connected with the pathology or disability
- Provide information regarding possible financial assistance available at diagnosis and as the disease progresses
- Resource management (available or possible resources)
- General guidance, in response to the patient request
The coordinator should also ensure continuity between the specialist consultation and follow-up consultations:
- Ensuring that the patient has full understanding (of the diagnosis and expected interventions)
- Ensuring that the established care plan is properly implemented (in terms of adequate information, prescriptions and the coordinated overall care service provided by the various care professionals) , and other networks likely to provide services to the patients and their families
And finally, the care coordinator is expected to participate in national meetings and facilitate interactions at meetings between the families and relevant associations, always working as a partner.
The Reference Center for Leukodystrophies brings together highly specialized medical and paramedical skills for the global care of leukodystrophies.
The Reference Center for Leukodystrophies is divided in two locations:
Le Kremlin Bicêtre, France
Coordinator : Pr. Patrick AubourgBicêtre Hospital,
Addressed leukodystrophies : All leukodystrophies and in particular, adrenoleukodystrophy (ALD), adrenomyeloneuropathy (AMN), metachromatic leukodystrophy (MLD), Krabbe disease (GLD) and Canavan disease.
Hôpital Bicêtre Sud
Service de Neurologie et d'Endocrinologie Pédiatriques
78, avenue du Général Leclerc
94 275 Le Kremlin Bicêtre, France
Medical secretary: +33 1 45 21 31 12
Consults in Neurology or Pediatric Neurology:
- with Drs. Sevin, Bellesme and Lagneaux : +33 1 45 21 31 32 / +33 1 45 21 37 17
- with Pr. Aubourg : +33 1 45 21 31 12
Consults in Endocrinology: +33 1 45 21 78 31
Hospitalizations and emergencies: +33 1 45 21 32 34 / +33 1 45 21 32 35
EEG appointment: +33 1 45 21 32 25 / +33 1 45 21 32 26
The team :
- Neuropaediatricians: Pr. Patrick Aubourg, Dr. Céline Bellesme, Dr. Caroline Sevin, Dr. Céline Lagneaux
- Nurse: Fabienne Rousseau
- Medical secretary: Geneviève Leclerc
- Hospital secretary: Adèle Opheltès
- ELA Psychologist: Marie-Claude Blondeau
- Neuropsychologist: Clémence Lalande
- Social worker: Marie-Claude Lupter
- Dietitian: Brigitte Merle
Robert-Debré Hospital, Paris, France
Coordinator : Pr. Odile Boespflug-Tanguy
Addressed leukodystrophies : All leukodystrophies and in particular Pelizaeus-Merzbacher disease (PMD), hypomyelinating leukodystrophies, CACH syndrome, megalencephalic leukodystrophy with subcortical cysts (MLC), Alexander disease and cavitary leukodystrophies, Aicardi-Goutières syndrome, vascular leukodystrophies, lamin B and dominant leukodystrophies.
Groupement hospitalier universitaire Nord
48, boulevard Sérurier
75019 Paris, France
Phone information :
- Mondays through Wednesdays (8 AM - 8 PM) : +33 (0)1 40 03 40 20
- Thursdays through Sundays : +33 (0)4 73 71 53 05
- HOTLINE: +33 (0)6 31 73 93 52
Fax : +33 (0)1 40 03 47 74
E-mail : [email protected]
- Neuropediatricians: Pr Odile Boespflug-Tanguy, Dr Sandrine Passemard
- Paramedical coordinator: Marie Louise Vendeville
- Secretary: Christelle Lanista
- Nursery: Véronique Maestracci
- Neuropsychologists: Jessica Save, Marion Barget
- Social worker: Sandra Lecerf
- Physiotherapy: David Marteil, Emilie Soulier, Christine Hamel
- Opthalmology: Dr Eliane Delouvrier, Dr Hélène Dallens
- Orthoptics: Marie Solé
- Neurophysiology: Dr Catherine Delanoe, Dr Tarif Masri
- Imaging: Dr Monique Elmaleh, Dr Bogdana Tilea
- Otolaryngologist: Pr Thierry Van den Abbeele