Mucopolysaccharidoses (MPS) Patient And Family Needs

Dr. Lampe begins by emphasizing that MPS comprises a group of rare, multisystemic, chronic, and progressive genetic diseases—often life-threatening and highly variable. While MPS I, II, VI, and VII tend to be associated with “stiff” joints, MPS IV types are marked by hypermobility, and MPS III is primarily a CNS disorder. This wide phenotypic variability complicates diagnosis, especially in the absence of hallmark features like coarse facies or cognitive decline.

She highlights that diagnostic delays are common—averaging three years, but often exceeding ten. Early symptoms such as recurrent infections, hernias, hearing loss, and macrocephaly are often misattributed to common childhood illnesses. Undiagnosed families face frustration, emotional stress, and difficulty accessing appropriate care, support services, or even correct medical interventions.

Dr. Lampe stresses that MPS care must be multidisciplinary and holistic, involving pediatricians, metabolic specialists, surgeons, anesthetists, ENT and cardiac experts, and importantly, psychosocial professionals. Patients often require multiple surgeries, but with high anesthesia risks due to airway abnormalities, cervical spine instability, and respiratory compromise. She strongly advocates for surgeries in specialized centers and outlines detailed anesthesia precautions.

The psychological and social impact on families is profound. Parents report feeling overwhelmed, isolated, and chronically anxious, especially when navigating the disease without a diagnosis. The burden also extends to siblings and caregivers, with increased risk of depression, chronic stress, and physical illness. Dr. Lampe underscores the need for mental health support, which remains underprovided in most MPS centers.

She illustrates how general pediatricians—while not specialists—play a central role in coordinating emergency care, facilitating referrals, and maintaining consistent local support. Effective communication between specialized centers and local providers ensures safe, timely, and holistic management.

Dr. Lampe closes by advocating for early diagnosis, multidisciplinary treatment, and the integration of psychosocial care. She encourages engagement with patient associations for support and education. Ultimately, optimal care for MPS patients and their families depends not only on medical treatment, but on continuous collaboration, empathy, and comprehensive care planning.