Ketotic hypoglycemia in patients with Down syndrome: an example of extreme citizen science in biomedicine

Ketotic hypoglycemia (KH) is an often-overlooked disorder with low blood sugar and accelerated fat burn, sometimes in association with a syndromic disease. The Facebook support group for members of the patient organization Ketotic Hypoglycemia International became the platform where a mom of a child with a hitherto unseen combination of Down syndrome and KH identified more families with stories similar to her own. This resulted in a citizens-initiated and citizens-driven project, where scientific experts from the organization's Scientific Advisory Board were invited in to participate. It was preliminarily estimated that 7% of children with Down syndrome have KH. The first scientific paper on the topic has been published, an animation video of the findings was produced, and the first pilot project is about to start, investigating in detail the prevalence of KH in a cohort of 70 children with Down syndrome in Denmark. This project is an example of parent-organization-driven research, where novel observations may arise, not firstly caught by the health care system. Acknowledgment of such observations by presentation and subsequent further research in co-production between parents in a patient organization and health care professionals is an example of co-produced health research or extreme citizen science in biomedicine.