The Excellence in Pediatrics Spot The Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients. 

Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central and peripheral nervous systems, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions, confusing non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment significantly affect the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome.

To assist, EIP has launched the Spot the Early Signs Resource Centre to spread education in local medical communities and further develop and expand the trained on MLD frontline healthcare professionals network. The Resource Centre allows members to collaborate, engage and interact, providing easy access to information and educational resources when needed. This facility is available for members themselves and for sharing with colleagues. All recorded webinars are available to view without charge via the Resources Section of the site, along with further information on the Faculty, the Upcoming Live New Webinars and how you can Join Us to make your colleagues ‘think rare’ at every opportunity.