[Nursing Experience of a Child With Difficulty Breathing With End-Stage Niemann-Pick Disease Type C]

Area of Science:

• Pediatric Nursing
• Rare Diseases
• Genomic Medicine

Background:

• Niemann-Pick disease type C is a rare genetic disorder characterized by lipid accumulation.
• This condition leads to progressive organ damage, including hepatosplenomegaly, dyspnea, and neurodegeneration.
• Limited global cases present challenges in medical and nursing care expertise.

Observation:

• A child diagnosed with Niemann-Pick disease type C required comprehensive end-of-life care.
• Key nursing-care problems identified were dyspnea and caregiver role strain.
• The disease's unpredictable progression complicated care planning and caregiver support.

Findings:

• A multidisciplinary team approach was crucial for integrating discharge planning, symptom management, and resource allocation.
• Continuous nursing care from hospital to home was provided.
• This integrated care model enhanced care quality, strengthened family cohesion, and alleviated caregiver burden.

Implications:

• Sharing this nursing experience offers a valuable reference for discharge planning and end-of-life care in rare pediatric diseases.
• This case underscores the importance of a coordinated, family-centered approach in managing complex chronic conditions.
• Improved caregiver support and home-based care can significantly enhance the quality of life for children with rare genetic disorders.