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In this practical and experience-rich webinar, Dr. Simon Jones and Clinical Nurse Specialist Jane Roberts from Manchester Children’s Hospital explore pediatricians' vital role in managing children with Mucopolysaccharidoses (MPS) beyond specialist interventions. Their core message is clear: MPS care is a marathon, not a sprint, and pediatricians are essential long-term partners in multidisciplinary care.
Dr. Jones begins by framing the complexities of MPS care. These progressive, multisystem disorders require input from numerous specialists, but no single provider can manage all aspects. With many patients living far from specialist centers, the support of local pediatricians is critical in ensuring accessible, ongoing care. Pediatricians are not expected to replace metabolic specialists but to work alongside them, delivering acute and routine care, supporting families emotionally, and coordinating local health and community services.
Jane Roberts shares a compelling case study of Jack, a young man with MPS II. His story illustrates how local pediatric involvement enabled successful management of severe airway complications that culminated in a complex tracheostomy procedure. She describes the extensive coordination needed—local blood gas testing, sleep studies, psychological support, hospice access, and post-operative care—all facilitated by the pediatrician. Without this collaboration, timely and safe discharge would not have been possible.
The speakers stress the need for early and continuous involvement of local pediatricians. They play a key role in identifying and managing infections, coordinating vaccinations, monitoring growth and development, and recognizing evolving complications. Equally important is their ability to liaise with schools, physiotherapists, hospices, and community nurses. They can also advocate for families, helping them navigate healthcare systems that are often not designed for rare diseases.
Communication is highlighted as the cornerstone of effective care. Dr. Jones and Roberts advocate for frequent, transparent updates between specialist centers and local providers to avoid over-investigation, appointment fatigue, or risky procedures performed in inappropriate settings. Pediatricians also need support in understanding the boundaries of what they can and should manage locally—especially around anesthesia and surgical planning.
The webinar concludes by encouraging pediatricians to embrace their role, develop confidence in rare disease care, and view themselves as key members of the MPS care team. With trust, training, and open communication, they can dramatically improve outcomes and quality of life for these medically complex children and their families.