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A 40-minute webinar with Dr Simon Jones and clinical nurse specialist Jane Roberts (Manchester Children's Hospital) on the paediatrician's essential, long-term role in managing children with mucopolysaccharidosis (MPS) beyond specialist interventions — illustrated by a detailed case of a young man with MPS II. For paediatricians and multidisciplinary teams.
MPS care is a marathon, not a sprint, and no single provider can manage every aspect — so the local paediatrician is an essential long-term partner. Dr Simon Jones frames the challenge: these progressive, multisystem disorders need input from many specialists and a lead clinician or centre to coordinate care, yet many patients live far from their specialist centre and depend on local services for acute and routine care. The local paediatrician is not there to replace the metabolic specialist but to work alongside them — delivering everyday care, recognising evolving complications, coordinating community services and schools, and advocating for families who may attend more than sixty appointments a year. Good, transparent communication between centre and local team is the cornerstone, preventing over-investigation, appointment fatigue and risky procedures in inappropriate settings. Jane Roberts illustrates this with Jack, a young man with MPS II whose severe multi-level airway disease led to a complex, permanent tracheostomy. Local paediatric involvement made the extensive coordination possible — local blood-gas testing, sleep studies, psychological support, hospice access, community nursing and post-operative care — so that timely, safe discharge could happen 200 miles from the specialist centre. The speakers stress early and continuous local involvement from diagnosis, mutual trust and respect between teams, clarity about which procedures can be done locally (especially around anaesthesia), and keeping the child — not just the disease — at the centre. The Q&A covers who coordinates care after transition (a role the GP can take), full vaccination with pneumococcal boosters where needed, the notably low renal involvement in MPS, and the early red-flag pattern (recurrent ear infections, hernias and the combination of soft signs) that leads to diagnosis.
After viewing this webinar, participants will be able to:
To be an essential long-term partner alongside the specialist centre — not to replace the metabolic specialist, but to deliver acute and routine care close to home, recognise and manage evolving complications and infections, coordinate community services, schools, physiotherapy and hospice care, support the family emotionally, and advocate for them. Because many families face more than sixty appointments a year and live far from their specialist centre, engaged local paediatric involvement markedly improves care and quality of life.
Because MPS is multisystem and no one provider can manage all of it, so there must be a lead clinician or centre coordinating care; without it, patients can stall with no one making key decisions, or different centres can act without regard to one another, sometimes with catastrophic results. Frequent, transparent communication between the specialist centre and local providers prevents over-investigation, appointment fatigue and risky procedures — for example a routine operation that is safe in most children may be too dangerous locally for a patient with challenging airways.
That local involvement makes complex specialist care possible. Jack, with MPS II and severe multi-level airway disease (including a 90% collapse of the upper trachea), needed a complex permanent tracheostomy; local paediatric coordination provided the pre-operative work-up, sleep studies, blood-gas monitoring, psychological support, hospice access, community nursing and post-operative care near his home, 200 miles from the specialist centre — without which timely, safe discharge would not have been possible.
It is usually the combination of soft early signs — recurrent ear infections, glue ear and hearing loss, persistent rhinorrhoea with speech delay, and hernias, sometimes with failed newborn hearing screening — rather than any single sign, so it is often the generalist who pieces the picture together. A child already under several specialists by 18 months is itself a red flag. The kidney is the one organ system not clinically involved: although GAGs are stored in the renal tubules (and urinary GAGs are used for diagnosis and monitoring), there is no progressive renal disease.
This content is intended for healthcare professionals only. The views expressed are those of the presenters and do not necessarily reflect those of Excellence in Pediatrics; their inclusion does not imply endorsement. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.