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471 Care for the Child with a Rare Disease: a Joint Venture
  1. L Siderius1,
  2. S Beacher2,
  3. W Goossen3
  1. 1Icare, Meppel
  2. 2OSCAR, Amstelveen
  3. 3Results4Care, Amersfoort, The Netherlands


Novel digital communications and data registration add to a collaborative management approach for chronic diseases. Primary health care (PHC) providers, patients, and families can effectively prevent many major contributors to the disease burden. Patients need information, motivation, and skills in prevention and self-management. Prevention measures should be provided by professionals. This study aims at establishing opportunities for PHC to detect children with rare and chronic conditions and provide PHC with tools for personalized prevention for children.

Methods 931 newborns where followed in the Dutch youth health records, during 2 years to detect children with a rare condition. The preventive scheme includes registration of pregnancy and delivery information, neonatal and vision screening, growth-, development and physical evaluation.

Results 12 children had been diagnosed because the child’s obvious congenital anomalies recognized at birth or presenting with an acute illness. In another 10 children, the first signs and symptoms were recorded at the PHC. Of all 22 children, 5 children have a condition suitable for a coordinated care program with help of e health. We developed a system based on clinical “Detailed Clinical Models”, for self management and continuous preventive care for children with a rare condition in primary care.

Conclusion Rare diseases can be detected in primary care and after proper diagnosis primary care can again be involved in collaborative management.

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