A framework to assess impacts associated with diagnosis, treatment, support, and community integration that can capture changes along the rare disease patient and family journey


This research project builds upon the work of the IRDiRC Working Group on Goal 3 who produced a framework of the patient journey identifying key areas for developing methodologies to assess the impact of diagnoses and therapies on rare disease patients and families. While there are some studies on the impacts of living with a rare disease and some that chronicle the natural history, there has been relatively little research measuring the impacts of “diagnosis/no diagnosis/misdiagnosis” as well as “availability/no availability” of therapeutic interventions and their efficacy. 


The objectives of this Task Force are to (1) Develop, operationalize, and test a comprehensive framework of holistic, multidimensional, and evolving life-long experiences of patients and families living with a rare disease; (2) Develop, operationalize, and validate multidimensional indicators and measures (qualitative and quantitative) of impacts associated with diagnosis, treatment, support, and community integration that can be used to capture changes along the patient “journey”; and (3) Investigate qualitative case studies to represent a number of parameters that could inform on impacts. 


  • Assembly of the Task Force Group in Q1, 2023


  • Durhane Wong-Rieger – Rare Diseases International (RDI), Canada (Co-Chair)
  • Samuel Wiafe – Rare Disease Ghana Initiative, Ghana (Co-Chair)
  • Ana Maria Rodriquez – Nicklaus Children’s Hospital, USA
  • Evan Sarantinos – Thomas J Watson, USA
  • Hadley Smith – Harvard Medical School, USA
  • Ioana Streata – University of Craiova, Romania
  • Janine Lewis – BLH Technologies, USA
  • Jida El Hajjar – CORD/Loeys-Dietz Syndrome Foundation, Canada
  • Josie Godfrey – JG Zebra Consulting, UK
  • Lisa Sarfaty – NORD, USA
  • Ludger Schoels – University of Tubingen, Germany
  • Manuel Lubinus – Myositis Support and Understanding Foundation, USA
  • Manuel Posada – Institute of Health Carlos III, Spain
  • Maria Gogou – Great Ormond Street Hospital for Children, UK
  • Maureen Lyon – George Washington University, USA
  • Melissa Heidelberg – Takeda, USA
  • Monica Ferrie – Genetic Support Network of Victoria (GSNV)/GUARD Collaborative Australia, Australia
  • Patrizio Armeni – SDA Bocconi School of Management, Italy
  • Sue Baker – Perth Children’s Hospital, Australia
  • Trudy Nyakambangwe – Child And Youth Care Zimbabwe, Zimbabwe
  • Vanessa Ferreira – CDG (Congenital Disorders of Glycosylation)/Allies PPAIN, Portugal