Think Rare in Every Consultation: Mucopolysaccharidosis (MPS) 

The Excellence in Pediatrics Spot The Early Signs program aims to empower frontline pediatricians and GPs with the knowledge and skills to recognize symptoms of under-diagnosed or late-diagnosed conditions. This initiative underscores the profound impact of early detection and treatment on patients' development, quality of life, and survival.

Mucopolysaccharidosis (MPS) is a rare metabolic disorder characterized by a deficiency or malfunction of specific lysosomal enzymes, leading to an abnormal accumulation of complex carbohydrates in the body. This buildup causes progressive damage to cells, tissues, and organ systems. Early diagnosis is critical, allowing for timely interventions that can significantly alter the disease's progression and improve the patient's quality of life and survival.

EIP has introduced the MPS Resource Centre to address misdiagnosis and delayed treatment. This centre provides education programs from leading academics and experts to increase awareness among medical communities. It trains frontline pediatricians and GPs on when to suspect MPS, recognize its symptoms, and correctly refer patients to specialty centres. The Resource Centre promotes collaboration and interaction, offering access to vital information and educational resources.

 
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