Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott and APSU Rare Diseases Impacts on Families Study group; Orphanet Journal of Rare Diseases201712:68 DOI: 10.1186/s13023-017-0622-4; Published: 11 April 2017
Parents of children living with rare chronic and complex diseases have called for better education, resourcing of health professionals to prevent avoidable diagnostic delays, and to facilitate access to early interventions and treatments. Access to psychological support and genetic counselling should be available to all parents receiving a life-changing diagnosis for their child.
The most common perceived reasons for delayed diagnosis reported by parents participating in our study was the lack of knowledge among health professionals.
Receiving a diagnosis of a rare chronic and complex disease for their child is a life-changing event for many families, and most require support at or near the time that diagnosis is made. Almost all parents in our study believed that psychological support should always be offered at the time of diagnosis.
Parents believe that health professionals’ knowledge about rare diseases needs to improve to enable more timely diagnosis, treatment, and provision of accurate information about the implications of the disease to families who are stressed, frustrated and anxious. The integration of genomic medicine into the health system, the establishment of multidisciplinary specialist clinics, and clear referral pathways may improve the timeliness and accuracy of diagnosis for children with rare diseases. The ultimate aim should be to improve patient and family experiences, and it is therefore imperative that patients are involved in development and evaluation of such programs.
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