Series 3 Episode 14: Farah O’Regan and Matt Johnson. Down syndrome and very young onset diabetes

Released 15 April 2025

Farah O'Regan talks about how her son who had Down syndrome and a severe congenital heart condition needing surgery diagnosed in pregnancy and then developed Type 1 diabetes on day 2 of life. In early childhood he was diagnosed with 2 more autoimmune conditions, coeliac disease and hypothyroidism. Researcher Matt Johnson explains his research which has established that Down syndrome directly results in very early-onset autoimmune diabetes.

Farah O’Regan’s son, Sam, was diagnosed before he was born as having Down syndrome, a condition caused by having 3 copies (Trisomy) of chromosome 21. He was found in utero have a congenital heart condition associated with Down syndrome and this required heart surgery after birth. He also developed Type 1 diabetes needing insulin on day 2 of life and later developed coeliac disease and hypothyroidism which are autoimmune conditions like Type 1 diabetes. Despite these many physical conditions Sam is thriving and goes to a mainstream school.

Developing Type 1 diabetes before 6 months is incredibly rare. Diabetes researcher, Matt Johnson at the University of Exeter is working on why some patients get autoimmune conditions, especially Type 1 diabetes, much earlier than usual. Working with colleagues in Exeter and Bristol he showed that in patients with very early Type 1 diabetes, Down syndrome was much more common than expected and that in Down syndrome, very early Type 1 diabetes was much more common that expected. This enabled him to establish that Down syndrome was a cause of very early autoimmune diabetes, and this did not require the usual genetic susceptibility found in Type 1 diabetes.

More details about Matt Johnson and his research can be found here:

https://experts.exeter.ac.uk/26978-matthew-johnson

The specific paper about Down syndrome and very-early onset Type 1 diabetes can be found here:

https://pubmed.ncbi.nlm.nih.gov/30962220/