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This webinar, co-presented by Dr. Monica Lopez Rodriguez (University Hospital Ramón y Cajal, Madrid) and Sophie Thomas (Senior Head of Patient Services at the MPS Society UK), focuses on the lived experience of individuals with alpha-mannosidosis and their caregivers. It highlights findings from recent surveys and consensus studies that explore quality of life, psychosocial burden, and unmet needs in patient care.
Dr. Lopez Rodriguez opens with an overview of the common comorbidities in alpha-mannosidosis, including mobility challenges, physical dependence, intellectual disability, immune dysfunction, and susceptibility to severe bacterial infections. She discusses how the European Medicines Agency (EMA) is increasingly valuing patient-reported outcomes (PROs) in regulatory science, underlining the need to consider patients’ own experiences in treatment evaluation.
She also presents findings from a European Delphi consensus study, emphasizing that monitoring disease burden, functional skills, school/work performance, and both patient and caregiver quality of life should be standard practice. A pan-European caregiver survey, conducted in 13 languages with responses from 18 countries, confirmed that pain, emotional strain, and fatigue are significant concerns. Caregivers often feel isolated and overburdened, and many lack access to psychological, physiotherapy, and respite support—especially as many patients now live into adulthood.
Sophie Thomas expands on these points, highlighting that frequent hospital visits, surgeries, and therapies can overwhelm families. While early treatment can improve long-term outcomes, managing chronic pain, mental health, and mobility loss remains a central challenge. The survey also revealed overlooked symptoms like obsessive-compulsive behaviors, anxiety, and emotional withdrawal, especially in adolescents and young adults.
Both presenters advocate for a holistic approach to care that includes emotional, educational, and social support. They stress that diagnosis is only the beginning of a lifelong journey. Effective communication, active listening, and face-to-face delivery of diagnosis are essential to fostering trust. They also call for consistent follow-up documentation to ensure families retain vital information from clinical visits.
The session concludes with a call for improved collaboration between clinicians, support organizations, and families to address these multidimensional challenges. Practical examples of support, such as educational advocacy and respite care options, are shared as models for wider implementation across Europe.