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In this powerful and moving session, Oskar Ahlberg and Michaela Weigl share deeply personal perspectives on raising children with Mucopolysaccharidosis (MPS), offering pediatricians a rare and essential view into the lived realities of affected families. Oskar, president of the Swedish MPS Association, is the father of a child with MPS III (Sanfilippo syndrome), while Michaela, president of the Austrian MPS Society, is the mother of a young adult with MPS IVA (Morquio A syndrome).
The session is structured as a dialogue, beginning with each parent recounting their child's diagnostic journey. Oskar describes early developmental delays in his son, Casper, eventually leading to a diagnosis of MPS III. Michaela recalls how subtle skeletal signs in her daughter Maria’s early years went unrecognized until she identified the symptoms herself through independent research. Both emphasize how MPS subtypes manifest in very different ways—neurological in MPS III, skeletal and physical in MPS IVA—yet share the common thread of diagnostic delay and emotional upheaval.
Their stories underscore the importance of early suspicion and proper referral, especially when symptoms like language delays, abnormal skeletal growth, or sleep disturbances are present. Oskar highlights how his son's behavioral and developmental traits were initially misattributed to autism, while Michaela outlines the physical markers—like protruding ribs and knock-knees—that were overlooked until she pushed for further testing.
Daily life with MPS is another focal point. Oskar talks about severe sleep disruption, the need for night-time assistance, and managing daily care for a non-verbal, dependent child. Michaela explains how her daughter Maria, now 27, continues to face physical challenges but lives independently with the help of customized mobility aids and surgery that corrected debilitating knock-knees. She stresses the importance of physiotherapy, hearing assessments, and orthopedic care.
Both speakers reflect on the psychological and social impact of the disease—not only on the child but on the entire family. Divorce, sibling dynamics, school inclusion, and social isolation are openly discussed. They offer practical advice to pediatricians: ask how the parents are coping, be honest and compassionate when delivering diagnoses, and encourage early connection with MPS societies.
The webinar closes with a message of hope and empowerment. While the journey is undeniably hard, support networks, proactive healthcare, and access to therapies can make a meaningful difference. Pediatricians are urged to look beyond the clinical and embrace the human side of rare disease care.