Finding the cure for our children: Exploring parent-led transformations of biomedical knowledge production, distribution, and consumption

This paper explores active engagement of publics in the development of science and technology, taking the parent-led construction of a rare disease biomedical collective as its case. The syndrome ANDP was first described in 2014 as a genetic mutation linked to a complex range of clinical characteristics found in children. Since then, about 300 children have been diagnosed worldwide through genetic testing. Many of their parents are connected in an online community that share experiences and struggles with the disease while also working towards increased awareness, advocacy and research funding. Several parents have also developed scientific expertise and have taken part in constructing new knowledge related to the syndrome. One parent embarked on systematically collecting patient-based evidence leading to the development new biomarker in 2017, early stage teeth development. Another parent developed an AI tool to search medical literature for possible new treatment ideas or drugs that could be repurposed leading to a clinical trial initiated in 2020 to test the drug ketamine on 12 children recruited through the community. Based on analysis of online material, the paper explores the building of legitimate authority on the illness of one’s child and the making of a biomedical collective cutting across science-public divides.