The LCRD will take a holistic and multidimensional approach to examine visibility and make specific recommendations through five working groups:
- Visibility for human rights.
- Visibility for social justice.
- Visibility in data and metrics.
- Visibility within the healthcare system and other sectors.
- Visibility for clinical pathways.
Vision: Rare disease is visible globally.
Mission: Rare disease is a priority in health, education, society, and research globally.
WG1: Visibility for Human Rights
Lead: Bartha Knoppers
Academic secretariat: Taila Hartley
Members: Sharon Terry
Visibility: This working group will focus on understanding the fundamental rights and entitlements of PLWRD through a human rights lens. Rights to be discussed include:
- The right to science
- The right to health
- The right to self-determination
- The right to non-discrimination
WG2: Visibility for Social Justice
Chair: Lucy McKay
Members: Kirsten Johnson, Juan Francisco Cabello Andrade
Visibility: This working group will examine the barriers that PLWRD face in achieving equitable opportunity to live well and attaining social justice. Highlighting societal requirements that could facilitate the improvement of social justice to enable PLWRD and their communities to live well.
Background:
Living with a rare condition is almost universally challenging. Rare conditions most frequently start in childhood, cause disability and can run in families. However, a lack of recognition of how PLWRD are impacted leads to additional, preventable challenges, in all areas of life. Leaving PLWRD and their loved ones at a greater societal disadvantage to living well when compared to those with conditions that are more widely recognised, understood and accommodated for. People with rare conditions need to be supported to live well within the context and parameters of their own health. This is the natural follow on from WG1 because without services that are able to support PLWRD they are more likely to have their human rights breached e.g. discrimination, loss of education and preventable loss of health.
WG3: Visibility in data and metrics
Chair: Ana Rath
Members: Helen Malherbe, Sharon Terry, Jose Elias Garcia Ortiz, Ada Hamosh, Yong Chen
Visibility: This working group will collect and analyze data to accurately recognize rare diseases and count PLWRD
Goal: Governments, healthcare systems, and researchers recognize and prioritize rare diseases and PLWRD
Background: A consensus on how to count rare diseases has not been reached (e.g., they are invisible at many levels, including economic)
WG4: Visibility within the healthcare system and other sectors
Chairs: Gareth Baynam
Academic Secretariat: TBD
Members: Giuseppe Remuzzi, Lama Al Abdi, Chung Hon Yin, Carmencita Padilla, Ratna Dua Puri
Visibility: This working group will highlight opportunities to identify PLWRD (red flags; think rare) within the healthcare system and society.
Goal: Reduce diagnostic odysseys and shorten the path to informed care for PLWRD
WG5: Visibility in clinical pathways
Chairs: Anneliene Jonker
Academic Secretariat: TBD
Members: Durhane Wong-Rieger, Anna Somuyiwa, Holm Graessner, Susan Horton, Ignacio Zarante, Shuyang Zhang, Kimihiko Oshi
Visibility: This working group will explore how to care for PLWRD within “treatment” pathways
Goal: Shift the conventional paradigm of treatment and understand the full spectrum of therapeutic care