| Description |
Introduction: There are over 7,000 known rare diseases, with over half having a childhood onset. Although rare diseases are singularly uncommon, collectively 6-10% of the population is affected. The sheer number of rare diseases and infrequent prevalence create a difficult challenge for health care providers. Pediatric providers express difficulties due to a limited personal knowledge of specific rare diseases and problems accessing relevant, valid information on diagnosis, treatment, and management. They also have trouble finding resources that allow them to provide appropriate care. The result may be misdiagnosis, diagnostic delay, inappropriate treatments and detrimental consequences to the child. Additionally, providers are often unaware of available community resources that may be of benefit to the families and children with a rare condition. In this context, Fabry disease is a typical rare disease. Patients with Fabry often face years of misdiagnosis, ineffective treatments, and resultant delay in treatment. The consequence can be damage to many organs including the heart, kidneys, and brain. Families of children with Fabry and their health care providers need information and resources to provide appropriate care. Problem: Pediatric health care providers cannot be knowledgeable about every rare disease and need a reliable, readily-available source of information and resources. Additionally, parents and families need a place to turn for information, resources, and support. The Medical Home Portal (MHP) is a valid, evidence-based source of information and resources. The portal can be easily accessed over the internet by health care providers and families of children living with rare disease. Objectives: The objectives of this project are to (a) develop modules for pediatric health-care providers and families with information on one rare disease, Fabry disease; (b) increase awareness among pediatric health care providers that the MHP is a valid and readily available source of information on rare diseases by developing educational materials for dissemination in pediatric academic settings; and (c) disseminate information about the availability of the Fabry module on the MHP to the Fabry disease community through websites, email, and newsletters. Implementation and Evaluation: After a thorough literature review and examination of existing clinical guidelines and practices, the modules for Fabry disease were written to conform to the guidelines for the MHP. The modules were evaluated for content and accuracy by content experts and the MHP staff. Families of children living with Fabry were surveyed to evaluate the module for Fabry patients and their families. Fifty-five surveys were returned with a large majority indicating they found the modules helpful for themselves and their primary health care provider. Feedback from content experts and Fabry families were integrated into the module revision and the final versions were submitted to the portal staff on March 6, 2015. Presentations on the MHP were given at two pediatric health care provider conferences and at an academic setting where future pediatric health care providers are instructed. The presentation given to the students was evaluated via an in-person survey. Conclusion: The MHP is a resource that can help to meet the needs of children with rare disease, their families, and their health care providers. |
