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A 60-minute educational webinar with Dr Monica Lopez Rodriguez (University Hospital Ramón y Cajal, Madrid) and Ms Sophie Thomas (MPS Society UK) on the lived experience of people with alpha-mannosidosis and their caregivers — quality of life, psychosocial burden and unmet needs, drawn from recent surveys and consensus work. For paediatricians and multidisciplinary teams.
Alpha-mannosidosis places a high burden not only on patients — with mobility difficulties, physical dependence, intellectual disability, immune dysfunction and susceptibility to severe infections — but on their caregivers. Dr Monica Lopez Rodriguez sets out these comorbidities and how the European Medicines Agency increasingly values patient-reported outcomes in evaluating medicines, and presents a European Delphi consensus recommending that disease burden, functional skills, school or work performance, and both patient and caregiver quality of life be monitored routinely. A pan-European caregiver survey — in 13 languages, from 18 countries, mostly completed by parents — confirmed that pain, emotional strain and fatigue are major concerns, that caregivers often feel isolated and overburdened, and that respite and psychological support are frequently lacking, especially as patients live into adulthood. Sophie Thomas expands on supporting patients and families from diagnosis onwards. Diagnosis is only the start of a lifelong journey, often reached after a long, frustrating path, and how people are supported afterwards matters as much as the diagnosis itself. She sets out how to deliver a diagnosis well — face-to-face, with time, preparation, honest information, early linking to support, and a written summary after every appointment — and highlights overlooked burdens such as chronic pain, mental health, and the cognitive and communication difficulties that lead to social isolation. Both presenters call for a holistic, collaborative approach across clinicians, support organisations and families, with shared decision-making and access to psychological support.
After viewing this webinar, participants will be able to:
Beyond the clinical comorbidities — mobility difficulties, physical dependence, intellectual disability, immune dysfunction and severe infections — the disease places a heavy burden on caregivers, who often feel isolated and overburdened. A pan-European caregiver survey found pain, emotional strain and fatigue to be major concerns, with respite and psychological support frequently lacking, especially as patients live into adulthood.
Because in a rare, heterogeneous disease the patient's and caregiver's own experience — mobility, pain, fatigue, well-being — is central to judging care and treatment, and regulators such as the European Medicines Agency increasingly value it. A European Delphi consensus recommends routinely monitoring disease burden, functional skills, school or work performance, and both patient and caregiver quality of life.
Where possible face-to-face, with additional time, preparation (accurate, up-to-date information and knowledge of specialist centres, trials and support groups), a thorough assessment of psychological, social and emotional as well as clinical needs, and early linking to support systems. A written summary of key points and next steps should be provided after every appointment, because patients and carers remember only a fraction of what is shared.
Chronic pain (hard to predict and treat, and able to prevent walking and cause a cycle of pain and fatigue), mental health (anxiety, obsessive-compulsive behaviours, especially in young people), and cognitive and communication difficulties such as slow processing — which can lead to exclusion and social isolation. A holistic approach addressing psychological, social and emotional aspects, with access to psychologists and patient organisations, is essential.
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.