Workshop 6 - "Case study: Italian Training for MDs,"

“KNOWING TO ASSIST”

ItalianTraining for MDsRenza Barbon Galluppi

UNIAMO FIMRAmsterdam 13-14 May

UNIAMO Italian Federation of Rare Diseases• UNIAMO FIMR is an association committed in the Social promotion, founded in 1999

upon the initiative of a small group of associations. Its mission is the improvement of the quality of life of people suffering from a rare disease, through the activation, the promotion and protection of fundamental rights of rare disease patients in research, bioethics, health, health and social policy.

• Today the Federation has two sites: Rome and Venice, a Board of Directors with seven members, a pool of more than 95 member organizations (representing over 600 diseases) and is supported by member fees, contributions, donations and projects funded by the Ministry of Labour and Social Solidarity

• UNIAMO FIMR non-profit organization works not only in the interests of patients but also doctors, researchers and their institutions through an indispensable critical activity

RD Associations’skills RD Association

Knowledge Experience

ability to read the context, to manage relationships with institutions or bodies and with other social actors in the territory, to adopt appropriate strategies

Public Health Priorities

Rare diseases have been identified as a priority of public health action

The public health programs aim to provide all citizens with appropriate and timely diagnosis to promote scientific knowledge available to support basic research and clinical research

Awareness and projects

Following the First RDD UNIAMO asked Farmindustria to support an important strategic action capable of addressing

the cross-cutting need for training on Rare Diseases of GPs and paediatricians

thanks to a Covenant of Understanding with Farmindustria , signed in 2000 and based on fundamental principles

for Rare Diseases

Needs and projectA strategic action transformed into a project ideaA project idea born from a careful analysis aimed at:

Development of diagnostic suspicionDevelopment of a global health and social careDevelopment of procedures for the handover of the

daily care from pediatric age to adult age

The care is the set of actions that allow, in every period of life, modulation and implementation of social and health

interventionsThe care takes into account the individuality

of the person, activities and relationships that give significance to his daily life

Legge 328/00 - art. 14

Legge 328/00 - art. 14

First step of the project• Farmindustria was asked to bring together the presidents of the most important

scientific federations of general practitioners (GPs) and paediatricians (PLS).

• They liked project idea and a second meeting was held with several representatives of each federation:

Italian Federation of Family Doctors FIMMG Italian Federation of Paediatricians FIMP Italian Society of Pediatrics SIP Italian Society of General Medicine SIMG

Knowing to assist

• Together we established the path and the development of the project

• together we defined the name of the project "Knowing to assist"

• Together it was decided the procedure to be used: sharing every step since the outset of the project development and,

as for the Theme of THE SECOND RARE DISEASES DAY

RDD Feb. 29,2009

Patient’s care,

a public affair!

The Master Educational Course

“ Knowing to assist”

was held in Rome on Feb 26/28 - RDD

Training of medical staff on Rare Diseases

in collaboration with the Medical Societies

Pilot Course

• The Pilot Course was attended by 45 physicians and 45 pediatricians

• one for each Medical Society in each region with the aim to become trainers for local regional courses that would be developed within three years

• The course was supported by FARMINDUSTRIA

Pilot Course

• Trainees have been recruited by the societies amongst their members and 'forced' to attend/participate.

• However, eventually they were happy to have attended the training and they realized they might have patients suffering from rare disease

www.malatirari.it• At the same time the Federation has worked to create a database

www.malatirari.it that could be helpful in gathering information for health professionals

• The initiative was funded for 80% by the Ministry of Labour and Social Policy

• a simple and comprehensible database meets the daily needs of the patients and their families and the operative needs of the health professionals

2010-2011 ProgramThree-year training project funded by FARMINDUSTRIA:

2010 1 Trentino 13-mar-10 Trento

2 Lombardia 20-mar-10 Milano

3 Liguria 18-set-10 Genova

4 Lazio 04-dic-10 Roma

5 Campania 04-dic-10 Napoli

2011 1 Sardegna to be defined Cagliari

2 Puglia 08-ott-11 Bari

3 Abruzzo/Molise 22-ott-11 Pescara

4 Emilia Romagna 22-ott-11 Bologna

5 Calabria 29-ott-11 Catanzaro

6 Sicilia 03-dic-11 Palermo

Metodology of development• Each trainee then became a trainer with the responsibility for developing

and promoting the same format of the course at the local level

• The format is developed in two parallel sessions and two plenary sessions

• The outset is a plenary session based on the theoretical and practical concept of "network "

• followed by two parallel sessions (pediatric / adult) on the suspected diagnosis and care

• to end with a plenary session on the transition from pediatric to adult age

Goals 1- a new diagnostic sensitivity

2- to address, in a concrete and direct way, all the cross-cutting issues care (nutrition, gastroenterology, pulmonology, cardiology etc..) that the pediatrician and / or the general

practitioner have to face in the daily life of these patients and their families. These issues are dealt with either through lectures of competent specialists in the field of complex

disability and through a session of interactive clinical cases where the participants can measure themselves with concrete examples with the guidance of specialist

3- to lay the groundwork for the establishment of a handover protocol which allows the RD patients and their family to benefit from a real continuity of care

4- to create trainers able to transfer this knowledge and these messages in different contexts, at first regional and then provincial, through the organization of local educational courses as part of the required upgrading of the different health professionals

.

Focus groups• Six focus groups have been carried out with the

objective of bringing out the needs of knowledge of the family doctors

• The outcomes updated the database www.malatirari.it

First outcomes

• PRE-DIAGNOSIS:

The attention to rare diseases usually develops after a Paediatrician has a first experience in managing a child suffering from rare disease;

• ARISE THE SUSPECT:

Need to promote a professional culture which covers rare disease between heuristic hypothesis

. DIAGNOSTIC SUSPICION

Means are needed to reach a timely suspected diagnosis and to properly address the patient and his family to a diagnosis

First outcomes

Open Educational Needs:

Communication

• How to communicate to parents / patients the diagnostic suspicion ?

• How to communicate to parents / patients the diagnosis?

• How to manage anxiety / worry / despair of their parents?

Awareness of Paediatricians / GPs on RD

• Development of a culture which covers rare disease as "ordinary" heuristic hypothesis

• Action aiming at raising awareness and motivation (to feel like his own the rare patient and not delegate some other health professionals)

• Prediction of mandatory training on the specific issue of RD

First outcomes

Open Educational Needs: • The management of the patient with rare disease (especially on

how to behave both in cases of urgency or in cases of trivial problems, but that , being RD patients, could have complications )

• Needs for training on some treatment / technology / aids

THANK YOU FOR YOUR ATTENTION

UNIAMO FIMR www.uniamo.org

• A.L.T. Ass. Lotta alla Talassemia di Ferrara - A.T.D.L. Ass. Talassemici Lombardi - A.MA.PO. Onlus Ass. Malati di Porfiria - Ass.VISUS Retinite pigmentosa e ipovisione - AISAC Ass. per l'Informazione e lo Studio dell'Acondroplasia. - A.F.A.D.O.C. Ass. Famiglie di soggetti con Deficit dell'Ormone della Crescita e altre patologie - A.I.C.I. Ass. Italiana Cistite Interstiziale - A.P.M.M.C. Ass. Prevenzione Malattie Metaboliche Congenite - PXE ITALIA Ass. PseudoXantoma Elastico - A.I.P. Ass. Immunodeficienze Primitive - LES Gruppo lotta al Lupus Erimatoso Sistemico - A.I.L.U. Ass. It. Leucodistrofie Unite - A.S.T. Ass. Sclerosi Tuberosa - AIMEN Ass. Neoplasie Endocrine Multiple Tipo 1 e 2 - A.M.R.I. Ass. per le Malattie Reumatiche Infantili - Ass. Naz. ALFA 1 AT - I.A.G.S.A. International Aicardi-Goutières Syndrome Association - I.A.L.C.A. Italian Association Leber Congenital Amaurosis - A.R.D. Toscana Ass. per la Ricerca sulla DISTONIA - ANIDI Ass. Naz. Diabete Insipido - UNITI Unione Italiana ITTIOSI Ass. It. Sindrome di WILLIAMS - UNITASK Unione Italiana Sindrome di Klinefelter - A.I.LAM Ass. It. Linfangioleiomiomatosi - G.I.L.S. Gruppo Italiano Lotta alla Sclerodermia - AS.IT.O.I. Ass. It. Osteogenesi Imperfetta A.I.M. Ass. It. Miopatie Rare - AT Ass. Nazionale Davide De Marini - A.N.A.N.A.S. Ass. Nazionale Aiuto per la Neurofibromatosi, amicizia e solidarietà - I.R.I.S. Ass. Siciliana Malattie Ereditarie Metaboliche - A.I.S.M.E. Onlus Ass. It. Studio Malformazioni Epilessia - LAGEV Libera Ass. Genitori ed Emofilici del Veneto "Antonio Valiante" - AIdel 22 Ass. It. Delezione del Cromosoma 22 - A.I.M.A.R. Ass. It. per le Malformazioni Anorettali - Ass. It. Sindrome di Rett - Ass. It. FAVISMO - KOROS Ass. per la ricerca e la prevenzione delle malattie Oculari infantili - U.M.A.R. onlus Unione Malattie Rare - Ass. RETE MALATTIE RAREonlus - AIST Ass. It. Sindrome di Tourette - AISP Ass. It. Sindrome di Poland – Ass. It. Malattia di Niemann Pick - Ass. FOP Italia Fibrodisplasia Ossificante progressiva - AISNAF Ass. It. Sindromi Neurodegenerative da Accumulo di Ferro - AIFP Ass. It. Febbri Periodiche - AISMME Ass. It. Studio Malattie Metaboliche Ereditarie - Fondazione Italiana HHT Onilde Carini - ASNIT Ass. Sindrome Nefrosica Idiopatica onlus - ACAR Ass. Conto Alla Rovescia onlus D.E.B.R.A. It. Ass. per la Ricerca sull'Epidermolisi Bollosa onlus - Progetto Alice lotta alla Sindrome Emolitico Uremica Ass. Sindrome di Crisponi e Malattie Rare - A.S.C.E. Ass. Sarda Coagulopatici Emorragici - Angeli Noonan onlus Ass. It. Sindrome di Noonan - Ass. IL CIGNO Sindrome Craniostenosi - ANAA Ass. Nazionale Alopecia Areata - Ass. Estrofia Vescicale onlus - A.I.B.E.D. onlus Ass. It. Bambini con ernia Diaframmatica congenita - Ass. LA VITA E' UN DONO Acidemia Propionica - AMEI Ass. Malattie Epatiche Infantili – ASIMAS Ass. It. Mastocitosi - AEL Ass. Emofilici del Lazio - SOD Italia Ass. Displasia Setto-ottica e Ipoplasia del nervo ottico - Ass. Amici dell'Emofilia - ANFISC Ass. Nazionale Fibromialgia, - CFS, Encefalomielite Mialgica – Ass. It. Sindrome X Fragile onlus - Ass. CISTINOSI - L'A.P.E. onlus Ass. PKU - Comitato It. Progetto Mielina - BA.CO.DI.RA.ME Ass. del Bambino con disordini rari del metabolismo - AISC Ass. It. Sindrome di Costello - LA GEMMA RARA onlus Malattie genetiche rare - A.Ma.HHD onlus Ass. Malattia di Hailey Hailey Disease - LA NUOVA SPERANZA Lotta alla Glomerulosclerosi Focale - AID onlus Kartagener Ass. It. Discinesia Ciliare Primaria – ASMARA onlus Sclerodermia “E. Giuffrè” – AIMW Ass.it. Wowat Wilson – SOFT Italia Trisomie 13-18 – A.I.S.M.A.C. onnlus Siringomieilia e Arnold Chiari – A.I.G. GIST – Ass. It. EEC - A.I.M.A. CHILD Malformazioni Arnold Chiari – A.I.V.I.P.S. Ass. it. vivere la Paraparesi Spastica Ereditaria – A.S.M. 17 Ass. It. Smith Magenis Italia onlus – LAM Italia Ass. It. Linfagioleiomiomatosi – A.I.P.Ad – Ass. It. Pazienti Addison – C.D.L.S. Ass. Naz. Di Volontariato Cornelia de Lange – A.S.A.A. ASS. Sostegno Alopecia Areata Onlus – A.I.C.H. Neuromed Ass. it. Corea di Hungington – MITOCON onlus Insieme per lo Studio e la cura delle malattie mitocondriali – A.I.S.S. Ass. Sindrome di Shwachmann – A.I.P.I.T. Onlus Ass. It. Porpora Immune Trombocitopenica - A.T.I.E.E. Ass. It. Taleangectasia Emorragica Ereditaria – A.M.A.S.T.I. Ass. Malati e Amici Sindrome di Tarlov –

PANDAS Italia – ELA Italia Onlus Ass. Europea contro le Leucodistrofie – A.S.R.O.O. Ass. Scientifica Retinoblatoma ed Oncologia Oculare.

• A.L.T. Ass. Lotta alla Talassemia di Ferrara - A.T.D.L. Ass. Talassemici Lombardi - A.MA.PO. Onlus Ass. Malati di Porfiria - Ass.VISUS Retinite pigmentosa e ipovisione - AISAC Ass. per l'Informazione e lo Studio dell'Acondroplasia. - A.F.A.D.O.C. Ass. Famiglie di soggetti con Deficit dell'Ormone della Crescita e altre patologie - A.I.C.I. Ass. Italiana Cistite Interstiziale - A.P.M.M.C. Ass. Prevenzione Malattie Metaboliche Congenite - PXE ITALIA Ass. PseudoXantoma Elastico - A.I.P. Ass. Immunodeficienze Primitive - LES Gruppo lotta al Lupus Erimatoso Sistemico - A.I.L.U. Ass. It. Leucodistrofie Unite - A.S.T. Ass. Sclerosi Tuberosa - AIMEN Ass. Neoplasie Endocrine Multiple Tipo 1 e 2 - A.M.R.I. Ass. per le Malattie Reumatiche Infantili - Ass. Naz. ALFA 1 AT - I.A.G.S.A. International Aicardi-Goutières Syndrome Association - I.A.L.C.A. Italian Association Leber Congenital Amaurosis - A.R.D. Toscana Ass. per la Ricerca sulla DISTONIA - ANIDI Ass. Naz. Diabete Insipido - UNITI Unione Italiana ITTIOSI Ass. It. Sindrome di WILLIAMS - UNITASK Unione Italiana Sindrome di Klinefelter - A.I.LAM Ass. It. Linfangioleiomiomatosi - G.I.L.S. Gruppo Italiano Lotta alla Sclerodermia - AS.IT.O.I. Ass. It. Osteogenesi Imperfetta A.I.M. Ass. It. Miopatie Rare - AT Ass. Nazionale Davide De Marini - A.N.A.N.A.S. Ass. Nazionale Aiuto per la Neurofibromatosi, amicizia e solidarietà - I.R.I.S. Ass. Siciliana Malattie Ereditarie Metaboliche - A.I.S.M.E. Onlus Ass. It. Studio Malformazioni Epilessia - LAGEV Libera Ass. Genitori ed Emofilici del Veneto "Antonio Valiante" - AIdel 22 Ass. It. Delezione del Cromosoma 22 - A.I.M.A.R. Ass. It. per le Malformazioni Anorettali - Ass. It. Sindrome di Rett - Ass. It. FAVISMO - KOROS Ass. per la ricerca e la prevenzione delle malattie Oculari infantili - U.M.A.R. onlus Unione Malattie Rare - Ass. RETE MALATTIE RAREonlus - AIST Ass. It. Sindrome di Tourette - AISP Ass. It. Sindrome di Poland – Ass. It. Malattia di Niemann Pick - Ass. FOP Italia Fibrodisplasia Ossificante progressiva - AISNAF Ass. It. Sindromi Neurodegenerative da Accumulo di Ferro - AIFP Ass. It. Febbri Periodiche - AISMME Ass. It. Studio Malattie Metaboliche Ereditarie - Fondazione Italiana HHT Onilde Carini - ASNIT Ass. Sindrome Nefrosica Idiopatica onlus - ACAR Ass. Conto Alla Rovescia onlus D.E.B.R.A. It. Ass. per la Ricerca sull'Epidermolisi Bollosa onlus - Progetto Alice lotta alla Sindrome Emolitico Uremica Ass. Sindrome di Crisponi e Malattie Rare - A.S.C.E. Ass. Sarda Coagulopatici Emorragici - Angeli Noonan onlus Ass. It. Sindrome di Noonan - Ass. IL CIGNO Sindrome Craniostenosi - ANAA Ass. Nazionale Alopecia Areata - Ass. Estrofia Vescicale onlus - A.I.B.E.D. onlus Ass. It. Bambini con ernia Diaframmatica congenita - Ass. LA VITA E' UN DONO Acidemia Propionica - AMEI Ass. Malattie Epatiche Infantili – ASIMAS Ass. It. Mastocitosi - AEL Ass. Emofilici del Lazio - SOD Italia Ass. Displasia Setto-ottica e Ipoplasia del nervo ottico - Ass. Amici dell'Emofilia - ANFISC Ass. Nazionale Fibromialgia, - CFS, Encefalomielite Mialgica – Ass. It. Sindrome X Fragile onlus - Ass. CISTINOSI - L'A.P.E. onlus Ass. PKU - Comitato It. Progetto Mielina - BA.CO.DI.RA.ME Ass. del Bambino con disordini rari del metabolismo - AISC Ass. It. Sindrome di Costello - LA GEMMA RARA onlus Malattie genetiche rare - A.Ma.HHD onlus Ass. Malattia di Hailey Hailey Disease - LA NUOVA SPERANZA Lotta alla Glomerulosclerosi Focale - AID onlus Kartagener Ass. It. Discinesia Ciliare Primaria – ASMARA onlus Sclerodermia “E. Giuffrè” – AIMW Ass.it. Wowat Wilson – SOFT Italia Trisomie 13-18 – A.I.S.M.A.C. onnlus Siringomieilia e Arnold Chiari – A.I.G. GIST – Ass. It. EEC - A.I.M.A. CHILD Malformazioni Arnold Chiari – A.I.V.I.P.S. Ass. it. vivere la Paraparesi Spastica Ereditaria – A.S.M. 17 Ass. It. Smith Magenis Italia onlus – LAM Italia Ass. It. Linfagioleiomiomatosi – A.I.P.Ad – Ass. It. Pazienti Addison – C.D.L.S. Ass. Naz. Di Volontariato Cornelia de Lange – A.S.A.A. ASS. Sostegno Alopecia Areata Onlus – A.I.C.H. Neuromed Ass. it. Corea di Hungington – MITOCON onlus Insieme per lo Studio e la cura delle malattie mitocondriali – A.I.S.S. Ass. Sindrome di Shwachmann – A.I.P.I.T. Onlus Ass. It. Porpora Immune Trombocitopenica - A.T.I.E.E. Ass. It. Taleangectasia Emorragica Ereditaria – A.M.A.S.T.I. Ass. Malati e Amici Sindrome di Tarlov –

PANDAS Italia – ELA Italia Onlus Ass. Europea contro le Leucodistrofie – A.S.R.O.O. Ass. Scientifica Retinoblatoma ed Oncologia Oculare.

Ente con personalità giuridica

Iscrizione n. 102 Del Registro nazionale A.P.S.

Associazioni di Promozione Sociale

Fondata a Roma il 3 luglio 1999www.uniamo.org

Affiliata al CnAMC di CITTADINANZATTIVA La FEDERAZIONE ITALIANA delle associazioni di pazienti affetti da patologie rare

da sempre impegnata nella tutela dei diritti e nel miglioramento della qualità della vita del paziente e della sua famiglia

Associazioni federate