Children around the world with neonatal diabetes have had their lives transformed after University of Exeter research found they can have excellent blood sugar control with tablet treatment instead of insulin injections.
Work by Professors Andrew Hattersley and Sian Ellard revealed that more than 50 per cent of patients with permanent neonatal diabetes have mutations in a potassium channel that regulates insulin secretion.
The research used state-of-the-art molecular genetics to find the causal genes, and involved performing the first ever studies that showed patients previously facing a lifetime of insulin injections could be treated with tablets.
After a new diagnostic test was introduced relevant patients were switched from insulin injections to oral therapy.
Diagnostic genetic testing is now available for all patients diagnosed with neonatal diabetes, with multiple laboratories in Europe and the USA. The Exeter laboratory provides rapid testing at no cost to the patient or their parents (funded by the Wellcome Trust) for patients in countries without genetic testing laboratories or for whom the cost of testing is prohibitive. As a result youngsters from 77 countries across five continents have benefited from improved care, a better quality of life and reduced healthcare costs.
Before this research a child diagnosed with diabetes in the first six months of life would be treated with four to five insulin injections a day for the rest of their life, normally having their eyes, kidneys or nerves affected by early adult life.
Professors Hattersley and Ellard showed that better control of blood sugar achieved with anti-diabetic drugs reduces the future risk of diabetic complications. In addition, since using the new treatment many of the 20 per cent of patients with neurological impairment have seen an improvement in their motor skills, cognitive function, speech, concentration, sleep and behaviour.
The move to tablets also improves the quality of life of patients by stopping pain at injection sites and removing the many restrictions on life that are imposed by multi-injection or insulin pump therapy. The regulation of insulin secretion in response to ingestion of food means that the patients’ diet is no longer tightly restricted and they also experience fewer hypoglycaemic episodes.
This work has also helped raise awareness of the condition. In July 2009, the Royal Society hosted the first Neonatal Diabetes Open Day for families whose lives have been changed by this research with 45 families attending from across the world to celebrate the life-changing transformations they have experienced. Colleagues in Chicago (USA) were inspired to create a US registry and held their first Neonatal Diabetes Family Meeting in June 2010. Facebook groups have also been created by parents and parent-led meetings have followed.