Federazione Malattie Rare Infantili [Federation of Rare Infantile Diseases] aims to include a reference figure for children with ultra-rare diseases and their parents in the Paediatric Clinical Genetics Department of the Specialist Paediatrics Unit of the Ospedale Infantile Regina Margherita [Regina Margherita Children's Hospital] in Turin.

What the project involves

The project finances the work of a “Pathway Consultant”, a professional currently absent in the health system who will boost the Ospedale Regina Margherita Medical Genetics team. They offer customised assistance and facilitate the diagnostic, therapeutic, and care pathway for patients suffering from ultra-rare diseases, to prevent their becoming chronic, coordinating the scheduling of examinations and directly engaging with the needs of individual complex cases.

Expected Outcomes

  • Reducing lengthy “diagnostic journeys”
  • Positive impact on quality of life for children and parents
  • Greater co-ordination with medical staff

The beneficiaries

The Pathway Consultant will interface with approximately 1,000 children being treated in the Medical Paediatric Genetics unit and their parents. Patients will see their health care facilitated and improved and the time spent on treatment planning reduced. Medical staff will also benefit indirectly from the project through improved coordination, reduced time, and more efficient care.

 

Project name: Piccoli grandi guerrieri: un consulente di percorso per affrontare insieme la battaglia contro le malattie ultra-rare infantili. 
Proposing organisation: Federazione Malattie Rare Infantili ETS
Area of intervention: Health & Welfare
Country: Italy