PRIOR-RH A Regional Centre for People Living with Rare Diseases Dominique Bonneau Department of Genetics University of Angers, France

EURORDIS Membership Meeting , Madrid May 30th

PRIOR – RH • Regional Centre • Information • Guidance • for Rare Diseases • and Rare Handicaps • Pilot Experiment

PRIOR (2009) • 1st National Plan for RD 2005 – 2008 • To Recognize the Specificity of RD • To Provide Information for Patients, health professionals and general public • National Reference Centres (Expertise) • To Respond to Specific Accompaniment (health/social) Needs of People Living with RD

Pays de la Loire (Region of the Loire River) • 3.6 Million Inhabitants • 5.6 % of the Population of France (65.8 M) • 180 000 People Living with Rare Disease in this Region

180 000 People Living with Rare Disease in Pays de la Loire • What can we do for them? • In their Everyday Lives • In their Close Environment – Family – Healthcare professionals – Social care services

• Regional Partners • Common thread : Subsidiarity

The aims of PRIOR • To Improve Care (Health) Pathway and Life Course • To Improve the Networking of Professionals (health/social) • To Improve the Access to financial support, School, Employment • To Reduce the Waiting Time in Social Cares

Who is PRIOR For? • People Living with Rare Disease • Family Caregivers (“Natural Helpers”) • Professionals – Health care – Social care – Education – Career Guidance

• Patient Organisations

How does PRIOR work? • Information : Disseminate and Share Skills and Knowledge • Guidance : Draw-up an Inventory of (RD) Expertise in Pays de la Loire • Social Accompaniment : to Support PLWRD in their Life Course • Organisation of Meetings: to Encourage Exchanges between Health/Social Professionals, Patient Organisations and Families • Principle of Subsidiarity

Human and Financial resources A Multidisciplinary Mobile team : • Health Manager (1 FTE) • Genetic Counsellor (0,5 FTE) • Social worker (1 FTE) • Psychologist (1,2 FTE) • Occupational Therapist (0,5 FTE) • Secretary (2 FTE) • Operating Budget – Human Resources (6,2 FTE) : – operating expenditure :

320 000 € / y 45 000 € / y

Results (2010-2014) • 750 PLWRD have contacted PRIOR • Numerous categories of requests • 30 coordination meetings with health/social professionals • 5 regional conferences • 850 professionals involved

2013

• Phone Calls • Mails • Interviews • Home Visits • Coordination Meetings

Demandes et besoins des enfants - 0 à 16 ans Demande exprimée en première intention

Action de première intention

Nombre de demandes

30 25 20 15 10 5 0

I s n e e ) t e p s té s s e tés / PA ta nt ca tio p ost tiq ue men t ifié e bil ier cie o lai r da p i que dica ia tion Rare e rch giq u ain e p a a n s a é o o e n h is u c c l t e m n d s o m t x r g c a s d o n d h o d r a n e u n i e imm g e e t e réé ent ha ti on sa ec du h ass la di Re sych s h si rs n b t a n p i / t m o é e e a d e s t i e n ê a a r e Lo u rs d n em tat io ag em che re d'h nd e n s pr pa rien t / lo g Aid e a tion d'un rt M men i en p Aid g e et o p t s n a er ctu cè te ut a O e p c i a a n é s h c r t o h x p t m i d a e s r A c n e b m pa am Rec stru éa De mp cher n tre e / T ide / ha me de 'a cco d e r ll e / e co i nt e h e n a d / ica ' e e c c d R o d e a d r i n t m ts é e al o n n tr ux nion na roi ge ch ,m Li e tio n m ela ti rd i ése a - ce fe ss na xd Re o é LD u n r o o A a a R ( C Am Li e n p r nrm ts ès cc en io Li e n fo I A m tat rse en i r u o O mb Re

National Solidarity Fund for Autonomy

Rare Handicaps 1. 2.

3. 4. 5.

6.

A severe hearing impairment associated with a severe visual impairment A severe visual impairment associated with other severe deficiencies A severe hearing impairment associated with other severe deficiencies A severe dysphasia associated or not with another deficiency Association of one or more severe deficiencies and a chronic, severe and progressive disorder such as: - A mitochondrial dysfunction - An inherited disorder of metabolism - A progressive disorder of CNS - A severe epilepsy Situations most complex

A National Network of Bridging Teams : Inter-région

EST Région

Région

ILE de FRANCE

OCEAN INDIEN

Pays de la Loire Inter-région NORD-OUEST

Inter-région OUEST

DGCS : Direction Générale de la Cohésion sociale CNSA : Caisse Nationale Solidarité Autonomie GNCHR : Groupement National de Coopération Handicaps Rares

Inter-région

Inter-région

SUD-OUEST

SUD-EST

Inter-région SUD MEDITERRANEE

Inter-région ANTILLES – GUYANE

The team involves 23 partners Prader Willi France

Voir Ensemble FAM de Terre Neuve Les œuvres de Pen Bron IEM l’Estran La Durantière Apajh 44

Voir Ensemble SERDAA

Alliance Maladies Rares Pays de la Loire Ariane Epilepsie

Pôle EJ Scolarité Formation / APAJH 72-53

Mutualité Anjou Mayenne (49-72-53 et Centre)

PRIOR

ALAHMI (lien région Centre et Sud Sarthe parcours intégré)

Les Hauts Thébaudières

AFM Téléthon Pôle Yolaine de Kepper

La Persagotière CREHPSY ADAPEI 44 APF

Association Les Récollets - La Tremblaye

ARTA TC 44-85

MAS et Foyers Les Hauts de Sèvre

CRTA et SRTA

ARIA / ADAPEI 85

Consultation HR en pédopsychiatrie

Research Projects and New Opportunities

• HuntExpert (Family Expertise in Huntington Diseases) • ICI Angers : Collective Initiative of (Social) Inclusion • RD Reference Centre Consortium

Conclusion • For RD, the Problem is not the Scarcity of the Disease but the Complexity of the Situation • Social Problems Should be Dealt with at the Most Immediate Level Consistent with their Solution • A Regional Network of Competence Both in Health and Social Cares

Thank You For Your Attention Any Questions?

PRIOR - Equipe relais Maladies Rares – Handicaps Rares Pays de La Loire