THE BIG PROBLEM Getting to know your team, the Big Problem and its - PowerPoint PPT Presentation

PHASE 1: SYSTEM CHANGE JOURNEY THE BIG PROBLEM Getting to know your team, the Big Problem and its Systemic Root Causes Dorica Dan’s team working for rare diseases

CLARIFYING THE BIG PROBLEM 2. Consequences if problem is not solved (relevance) 2a, Poor oor quali quality ty of of life for or pa patie tients ts and nd fam amil ilie ies 2b 2b, Severe econ onomic ical bur burden for or fam amili ilies and nd soc socie iety 2c 2c, He Heavy y emot otio ional l bur burden for or car aregivers • • • 1.000.000 patients with RD in Romania suffer without > 4h/da /day spent ent by by avrg. caregi giver er on treatment related tasks 58 58% of of caregi giver ers lost st their relat ation onshi hips ps, fam amily or or frien ends ds diagnose or treatment , ~20% of population • 85 85% of of aff ffec ected ed families fac ace high or or very high gh cost of care • 35 35% of RD patient ents die e befor efore age ge of f 5 • • 63% of 63 of car areg egiver ers repo eported ed limited ed jo job opt ptions ns, affecting the economies 80% of 80 of caregi giver ers suff uffer from om ment ntal al heal alth issu ssues workforce 1. Big Problem statement + scale More th than 90 90% of of th the rare diseases pati tients ts in in Romania are undiagnosed and struggle to access the services and the support they need, about 50 50% are ch children. 65 65% of of pati tients have to to visit at at least 7 different physici cians before diagnosis, 40 40% pati tients are misdiagnosed at at least once. The waiti ting ti time for ge gett tting tr treatment is is at at least 4.8 years from th the first sympto toms which means that many children die before the age of five. Altogether, this significantly affects the quality of >1.000 000.000 000 undiagn gnosed pati tients ts in in Romania and approx. 4.000 000.000 people who are th their family members/ ca caregi givers, which ch co constitu tutes 20 20% of of th the to tota tal pop population of of Rom Romania. 3. Systems that drive the big probem System B : The system of diagnosis and care for rare System A: The system of education System C: The system of funding diseases in Romania Onl nly 70 70 genet eneticist sts in in Ro Roman ania and 6 genet enetic cent nter ers; There is no no Car are pa pathw hway ays for for RD RDs in in Ro Roman ania ar are not not st structur ured ed or don't exist and No pr No prop oper er fun unding ng of of the NPR PRD and not enough investment on a med edical al sp special alty for rare diseases and it requires collaboration patients often struggle to access the services and the support they need; integrated care. National programs for care of RDs are not holistic and and multidisciplinarity. No No curricul ula for RDs in the universities. Fr Frag agment entat ation of of the he few ew ex exist sting ng car are ser services es & lac ack of of coo oordi dinat ation on cover only the drugs. No No regi gistries, s, no no accurat ate data. (different ministries, different coordination, budget, etc.). No No common http://insp.gov.ro/sites/cnepss/date-statistice-boli-rare/ visi sion of of heal alth and and social car are for RDs. http://www.mmuncii.ro/j33/images/buletin_statistic/dizab_2019.pdf Our focus: System of diagnosis and care for rare disease patients in Romania

TARGETED SYSTEMS CHANGE: PLOTS In the system of diagnosis and care for rare diseases in Romania there is a need to: Plots 1. Make the Case 2. Spot & Refer 3. Diagnose & Treat Primary healthcare Secondary & tertiary institutions healthcare institutions 4. Connect & Coordinate This would lead to structuring of care pathways for patients with rare diseases in Romania would enable them to have access to services and the support they need, at the right time and in the right place, and thus improved quality of life of patients and their families.

TREATMENT PATHWAY: STATUS QUO 3A 1 2 Geneticist/ genetic conseling Pediatrician/ Patient/Family 3B Family doctor Treatment Specialist 1 (if exists) 3C Specialist 2 4A Pharmacy Case responsible (community nurse) 4B Hospital Ambulatory Designate 6 5 Social services Local Authorities Disability assessment (DGASPC)

TREATMENT PATHWAY: VISION 3B Geneticist/ 1 2 genetic 3A conseling Pediatrician/ Patient/Family Family doctor Specialist 1 Centre of expertise Case manager= Specialist 2 doctor/expert VCM Tool 4A Case responsible= community nurse Treatment Pharmacy (if exists) 4B 5 VCM Tool Hospital Ambulatory Disability assessment (DGASPC) For newly diagnosed

TARGETED SYSTEMS CHANGE: MILESTONES In the system of diagnosis and care for rare diseases in Romania there is a need to: MS Prioritized milestones 1. Make the Case MS 1 : Report showcasing problems & consequences MS 2 : Report showcasing pilot results 2. Spot & Refer 3. Diagnose & Treat MS 1 : Incentivize MS 1 : Centers of primary healthcare 4. Connect & Coordinate Expertise (CoE) accredited workers to spot & refer for each RD cluster MS 1 : Convenient MS 2 : On-the-job MS 2 : 50+ case managers mechanism for data training for 1000 nominated in CoE sharing enabled community nurses & MS 2 : Coordinated committee 500 GPs established MS 3 : Introduce RD MS 3 : Transfer of international training in curriculum best practices into national healthcare system

for review Connection and coordination between the Primary and purposes work-in-progress Secondary/Tertiary Healthcare facilities and social services Community Care Primary Care Secondary Care Tertiary Care (Case responsible) A coordination committee established A convenient mechanism for sharing Transfer of best practices from ERNs between designated representatives of data on RD patients is enabled & RareResourceNet into the of Primary, Secondary and Tertiary between Primary, Secondary and national healthcare system is in Healthcare facilities and social Tertiary Healthcare facilities and place services on the topic of implementing social services in line with necessary the RD structured care pathways regulations. 7