For Patients
Webinars
Patient education and patient empowerment go hand in hand, and the former leads to the latter. The Patient Therapeutic Education Programme (PTEP) is set up with and for patients and aims to educate and help patients with inherited metabolic disease (IMD), family carers of individuals, and patient advocacy representatives to learn more about the diseases and everything they entail.
As part of the PTET, these webinars provide an opportunity to draw attention to the challenges faced by patients and their families in different countries and help learn lessons on how to improve the quality of life for patients. They serve as a platform for sharing best practices, spotlighting patient organisations’ initiatives and creating networking opportunities that could enhance collaborations and unify the efforts of the IMD community. The programme also aims to raise awareness about rare metabolic diseases and associated emergencies among healthcare professionals.
- Young Patient Advocacy – A Call to Action for Transition!
- Smith-Lemli-Opitz syndrome from a holistic family perspective
- Think Ammonia! Test and Diagnosis of Hyperammonaemia in time
- SanFilippo Webinar 3 – Feeding & Nutrition Emergencies
- SanFilippo Webinar 2 – Neurological/Psychiatric Emergencies
- SanFilippo Webinar 1 – Urgencies & Pain Management
Young Patient Advocacy – A Call to Action for Transition!
The webinar aims to promote and raise awareness of the vital role of Young Patient Advocacy (YPA) in rare metabolic diseases. It also highlights the importance of effective transition strategies for patients moving from paediatric to adult care a critical step in ensuring the proper management of these conditions and improving patients’ quality of life.
Organized in collaboration with the Greek patient organization Krikos Zois.
Main speakers: Dr. Mireia del Toro, Dr. Karolina Stepien, Dr. Persephone Augoustides-Savvopoulou, Eirini Daskalopoulou and Konstantinos Karathanas
Smith-Lemli-Opitz syndrome from a holistic family perspective
This webinar focused on Smith-Lemli-Opitz syndrome (SLOS), a rare metabolic disorder caused by a defect in cholesterol biosynthesis. The webinar was made available in collaboration with healthcare professionals and patient representatives, aiming to disseminate information about SLOS and thereby increase knowledge and understanding of SLOS symptoms from a holistic perspective for patients and their families.
Main speakers: Prof. François Eyskens, PD Dr. Dorothea Haas, Karin Mossler.
Think Ammonia! Test and Diagnosis of Hyperammonaemia in time
Webinar organised in collaboration with Metabolic Support UK aiming to highlight the impact of hyperammonaemia for at-risk communities, and provide expert guidance on diagnosis, testing, and treatment. Main speakers: Prof. François Eyskens, Dr. Dries Dobbelaere, Dr. Gavin Mercer-Smith, Jonathan Gibson.
SanFilippo Webinar 3 – Feeding & Nutrition Emergencies
Webinar organised in collaboration with Sanfilippo Fighters aims to address topics of importance related to managing urgent situations in Sanfilippo and related conditions. Main Speakers: Dr. Nolanda van Well van Haare and Dr. Sofie Cocquyt
SanFilippo Webinar 2 – Neurological/Psychiatric Emergencies
Webinar organised in collaboration with Sanfilippo Fighters aims to address topics of importance related to managing urgent situations in Sanfilippo and related conditions. Main Speakers: Dr. José Pedro Vieira, Prof. Florian Lagler and Dr. Simon Moser.
SanFilippo Webinar 1 – Urgencies & Pain Management
Webinar organised in collaboration with Sanfilippo Fighters aims to address topics of importance related to managing urgent situations in Sanfilippo and related conditions. Main Speakers: Dr. Serena Gasperini and Dr. Lucia De Zen.
