The Spot The Early Signs Education Program is designed to address the critical issue of conditions that are frequently underdiagnosed or diagnosed late despite the availability of treatments. Recognising that early detection and timely intervention can dramatically alter the course of a condition, this program emphasizes the importance of swift action to enhance both the quality of life and the survival rates of patients. At the heart of the initiative is a commitment to leveraging a Peer-to-Peer educational strategy, which seeks to refine the day-to-day practices of child healthcare professionals, including how they counsel and manage the care of the children and families they serve.

Early Diagnosis Can Make A Difference

Pediatricians and family doctors can play a pivotal role in minimising delays in diagnosis. 

Pediatricians and family doctors, often the initial point of contact within the healthcare system for children, play a pivotal role in this framework. Their position enables them to be among the first to identify potential symptoms of such conditions. The program underscores the significance of empowering these front-line clinicians with the knowledge and tools necessary to not only suspect and diagnose these conditions at an early stage but also to make timely referrals to specialised care. Doing so aims to bridge the gap in early diagnosis and ensure that affected children receive the best possible interventions at the earliest opportunity. This approach is instrumental in forging a pathway towards improved health outcomes, ensuring that healthcare professionals are well-equipped to offer the critical support children and their families need at these crucial early stages.

The Spot The Early Signs Education Program is initially centred around enhancing awareness and improving the diagnosis and management of three key conditions: Mucopolysaccharidosis (MPS), Metachromatic Leukodystrophy (MLD), and Alpha-mannosidosis (AM). However, the ambition of the program extends far beyond these diseases. With plans to broaden its scope, the initiative is set to include a wider array of conditions in the near future, further amplifying its impact on early detection and treatment within the medical community.

We invite healthcare professionals to adopt a 'think rare' mindset, thereby maximising every opportunity to spot and address rare diseases early in their presentation.

This concerted effort aims to revolutionize the approach to rare conditions, ensuring that early signs are not overlooked and that patients receive the timely and effective care they need.

To facilitate this mission, the program has established Resource Centres dedicated to each of the aforementioned diseases. These centres are designed as hubs for education and collaboration, aiming to proliferate knowledge and enhance the network of healthcare professionals trained in identifying these conditions at their nascent stages. The Resource Centres are dynamic platforms that encourage members to engage in collaborative discussions, share insights, and conveniently access a wealth of information and educational materials. This collaborative environment is not only beneficial for the members themselves but is also intended for dissemination among peers, fostering a community well-versed in recognising and responding to rare conditions. Accessibility is a key feature of the Resource Centres, offering unrestricted access to a host of resources, including recorded webinars, which are available for viewing at no cost. Additionally, each Resources Section provides detailed information on the program's Faculty, upcoming live webinars, and guidelines on how to join the program.


Visit the MPS Resource Center

  Misdiagnosis of Mucopolysaccharidosis (MPS) often leads to delayed diagnosis and treatment initiation, critically impacting long-term patient outcomes. This issue primarily arises from misinterpreting MPS symptoms, frequently mistaken for those of other conditions. Clinicians may focus on treating these symptoms in isolation, inadvertently postponing the correct diagnosis and necessary treatment. Additionally, this misdiagnosis can result in patients being referred to inappropriate pediatric specialties, further complicating and delaying the management of MPS. Such delays in the diagnosis and treatment chain not only hinder timely intervention but also significantly affect the quality of life and prognosis for patients with MPS.  

Visit the MLD Resource Center


Metachromatic Leukodystrophy (MLD) is a rare genetic disorder marked by the build-up of sulfatides, leading to the degradation of the myelin sheath, the crucial protective layer around nerves in the central and peripheral nervous systems. The erosion of this layer has severe consequences on intellectual and motor functions. The early signs of MLD are often subtle. They can easily be mistaken for other conditions, leading non-specialised healthcare professionals to misdiagnose or incorrectly refer patients, causing crucial delays in initiating treatment. These delays in diagnosis and treatment commencement have profound impacts on the progression of MLD, significantly deteriorating the patient's health and quality of life. Addressing these delays is essential for improving patient outcomes in MLD.


Visit the MPS Resource Center

  Alpha-mannosidosis (AM) is an ultra-rare genetic disorder resulting from a deficiency of the enzyme alpha-mannosidase, critical for breaking down complex sugars in cells. The variability in symptoms, severity, and disease progression among individuals complicates the diagnostic process, frequently leading to delays in recognising the condition. Swift and accurate diagnosis is crucial for providing individuals with alpha-mannosidosis and their families early access to necessary support and specialised multidisciplinary team (MDT) care. Reducing the time to diagnosis is essential for optimising health outcomes, enabling prompt intervention, and facilitating access to tailored treatments and supportive care strategies.