Rationale

Cystinosis is a rare disease that requires lifelong multidisciplinary care for managing kidney disease and progressive extra-renal complications. Adolescents with cystinosis and their families often face profound psychological distress and significant social challenges, particularly during the critical period of transition from paediatric to adult care.

Due to the rarity of cystinosis, most psychosocial professionals lack expertise in addressing the unique needs of these patients.
This webinar aims to bridge this gap by offering insights into the psychosocial burden and transition challenges during transition and providing expert guidance on psychological support and adherence to therapy.

Learning objectives

After watching this webinar, participants will:

  • Familiarize with the psychological and social burden of adolescents with cystinosis.
  • Recognize situations requiring psychological support.
  • Understand how to address challenges during transition, including treatment adherence.

Faculty: Meet the experts

Moderator

Dieter Haffner

Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany

Biography:
Dieter Haffner is a professor of pediatrics and Head of the Department of Paediatric Kidney, Liver, Metabolic and Neurological Diseases and is coordinating the Center for Congenital Kidney Diseases at the Center for Rare Diseases at Hannover Medical School. His main interests are the genetic and mechanistic exploration of rare kidney diseases and mineral and bone disorders in children with chronic kidney disease (CKD-MBD). He is President of the European Society for Paediatric Nephrology (ESPN), IPNA Executive Councilor, Associate Editor of the IPNA Journal Pediatric Nephrology and co-chairman of the Workgroup Immune Glomerulopathies of the European Network for Rare Kidney Diseases (ERKNet). He is former chairman of the IPNA Best Practices and Standards committee, the IPNA Publication Committee, the ESPN CKD-MBD working group, and the ERKNet – Guidelines & Pathways Task Force. He has led, or been heavily involved in, several randomized controlled clinical trials, patient registries, and national, European and international Clinical Practice Guidelines (AWMF, ESPN, ERKNeT, and IPNA). He has also published more than 300 original scientific articles, reviews, editorials and book chapters.

Discussants

Dirk Bethe

Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany

Biography:
Dirk Bethe is a clinical and paediatric psychologist and licensed psychotherapist. He works with the Division of Paediatric Nephrology, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Germany. For many years, he has been supporting and caring for children and adolescents with chronic kidney disease, as well as their families. This also includes families with a child suffering from cystinosis. Dirk Bethe has given many lectures on the psychosocial aspects of chronic kidney disease. He is also a co-author of several articles and textbook chapters. He has been particularly involved in the topics of ‘adherence’ and ‘transition to adult medicine. Dirk Bethe is actively involved in the coordination group of the European Working Group on Psychosocial Aspects of Children with Chronic Kidney Disease (EWOPA).

Lore Willem

Department of Child Nephrology and Organ Transplantation, Leuven University Hospital, Leuven, Belgium

Biography:
Lore Willem (PhD) is a clinical child and adolescent psychologist and licensed Cognitive Behavioral Therapist (CBT). She works in the Department of Paediatric Nephrology and Organ Transplantation of the University Hospitals Leuven. She specialises in paediatric psychology and has written several articles related to this topic. In daily clinical practice, she offers CBT to patients with Chronic Kidney Disease and to patients with a kidney and/or liver transplant. For many years, she has worked with children and adolescents with cystinosis and has offered lectures about the psychological impact of this illness on patients. Lore Willem is actively involved in the coordination group of the European Working Group on Psychosocial Aspects of Children with Chronic Kidney Disease (EWOPA).

Maria Fourikou

3rd Department of Paediatrics, Aristotle University Thessaloniki, Hippokratio Hospital, Thessaloniki, Greece

Biography:
Maria Fourikou is a Pediatrician interested in the Paediatric Nephrology. She currently serves at the Paediatric Nephrology Unit of the 3rd Department of Paediatric, Aristotle University Thessaloniki, Hippokratio General Hospital. As a paediatric nephrology trainee, Maria is involved in the care of patients with rare diseases including X-linked Hypophosphatemia, Primary Hyperoxaluria type 1 and two siblings with Nephropathic Cystinosis. From her experience, clinicians supporting patients with rare chronic diseases cope with the disease and its complications, but also with the bureaucracy in delivering medication, the adherence to therapy and the transition to the adult medical unit. A collaboration of a multidisciplinary team is pivotal for managing rare diseases such as cystinosis.

Stella Stabouliu

1st Department of Paediatrics, Aristotle University Thessaloniki, Hippokratio Hospital, Thessaloniki, Greece

Biography:
Stella Stabouli is a Professor of Paediatrics-Paediatric Nephrology at Aristotle University of Thessaloniki, Greece. She cares for patients with CKD and transplantation as well as patients with rare kidney diseases. She has a profound scientific and research interest in paediatric CKD-MBD, hypertension and cardiovascular disease. She is currently serving as an IPNA councilor. She is also a chairwoman of the European Society Hypertension working group on Blood Pressure in Children and Adolescents and she is participating in the Core Group of the HyperChildNET Cost Action a multidisciplinary European network on BP in children and adolescents. She is a member of the Editorial Board of scientific journals in the field of paediatric nephrology and hypertension and has authored several book chapters and more than 150 scientific articles.

Agenda

Welcome and Introduction
Dieter Haffner

Consensus on Psychosocial Challenges in Patients with Cystinosis
Stella Stabouli
An overview of the key psychosocial challenges faced by adolescents with cystinosis and reccomendations based on clinical consensus.

Patient’s Journey – Part 1*
A short, personal story from a patient, highlighting the real-life challenges and emotional journey of living with cystinosis.

Panel Discussion
Moderation by Dieter Haffner. Discussants: D. Berthe, L. Willem

Patient’s Journey – Part 2*
Continuation of the patient’s story, focusing on adherence to therapy, support from other patients and advocacy groups

Panel Discussion
Moderation by Dieter Haffner. Discussants: M. Fourikou, S. Stabouli, D. Berthe, L. Willem

Conclusions
Dieter Haffner

* The clips shown are part of a longer video that was kindly provided by Chiesi.

Highlights

  • Real Patient Perspectives: Explore personal experiences through the “Patient’s Journey” video segments.
  • Expert Insights: fruitful discussions with leading professionals addressing psychosocial challenges in cystinosis.
  • Collaborative solutions: gaining practical strategies for managing the transition to adult care effectively.

This program is supported by Chiesi Farmaceutici S.p.A. in the form of an unrestricted financial support.
The scientific program has not been influenced in any way by its sponsor.