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pediatric healthcare.
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This webinar, hosted during the early phase of the COVID-19 pandemic, brings together Dr. Christina Lampe, Prof. Maurizio Scarpa, Dr. Dafne Horovitz, and Dr. Heather Lau to discuss the unique challenges Mucopolysaccharidosis (MPS) patients face in the context of a global health emergency. Each expert shares perspectives from Europe, Brazil, and the United States on how MPS care and management were impacted and adapted during the crisis.
Prof. Scarpa begins with a medical overview of COVID-19 and its pathophysiology, noting the virus's ability to infiltrate multiple organs due to widespread ACE2 receptor expression. He explains that while initial data suggested children were less severely affected, increasing cases of Kawasaki-like inflammatory syndromes highlighted the need for caution. Scarpa emphasizes that rare disease patients, especially those on enzyme replacement therapy (ERT), were not necessarily at higher risk from the virus itself, but their access to care and therapies was significantly disrupted. He details how treatment regimens had to shift rapidly, with some hospitals switching to home infusions and reorganizing infusion centers to ensure safety.
Dr. Dafne Horovitz provides the Brazilian perspective, describing how patients across Brazil faced varying degrees of disruption due to regional differences in COVID-19 severity and healthcare capacity. She underscores the difficulty in maintaining ERT, transportation challenges, and patient fears around hospital visits. Horovitz discusses the implementation of national guidelines for rare disease management, including individualized decisions on continuing treatment. She highlights several real-world cases of MPS patients contracting COVID-19—with surprisingly mild courses—and emphasizes the importance of telemedicine and social support for families navigating the crisis.
Dr. Heather Lau shares her experience from New York, then the pandemic’s epicenter. She discusses how her team proactively contacted all lysosomal storage disorder patients, flagging MPS patients as high-risk due to their airway, cardiac, and neurological vulnerabilities. Lau details logistical barriers such as overwhelmed emergency rooms, home infusion challenges, PPE shortages, and psychological stress among families. She emphasizes individualized care decisions, the role of remote learning and therapies, and the urgent need for advocacy and preparedness tools—including emergency medical documentation.
The webinar concludes with a collaborative discussion on lessons learned, such as the value of community support, need for telemedicine infrastructure, and improving awareness of rare diseases among general healthcare providers. The panel stresses the importance of using this crisis as a learning opportunity to strengthen systems for future challenges.