It's not always easy to identify which type of diabetes someone has. But misdiagnosis can lead to the wrong treatments and poorer outcomes. So getting it right is critical.
In the 1990s, little was known about rare forms of diabetes caused by mutations in a single gene. These forms are known as monogenic diabetes. Too often, people were misdiagnosed with the more common type 1 diabetes or type 2 diabetes.
A key discovery on rare forms of diabetes
In 1995, we supported the first research projects in the then-new Exeter Genetics Lab. This led to the discovery of the genetic basis of different types of monogenic diabetes. As well as how to test and treat these conditions.
A key discovery found certain forms of monogenic diabetes didn’t need to be treated with insulin, meaning people could stop insulin injections and have much safer blood sugar levels.
Today this lab is a world-class genetic testing facility helping thousands of people with rare forms of diabetes get the right diagnosis and treatment.
Emma’s son Jack had been incorrectly diagnosed with type 1 diabetes. Thanks to genetic testing at Exeter it was discovered he in fact had neonatal diabetes. He was able to come off insulin and switch to sulphonylurea tablets.
Emma said:
“It was like a living hell before Jack got the right diagnosis. We were constantly monitoring him 24 hours a day – we didn’t sleep.
“Within just a few weeks of switching treatment, it became obvious that Jack’s blood sugar levels were really stable. He stopped collapsing and he suddenly started smiling and laughing.
“If it wasn’t for Diabetes UK and those incredible researchers, I’m sure that Jack wouldn’t be here. For us, it really was a miracle.”
Professor Maggie Shepherd, University of Exeter, who leads the National Genetic Diabetes Nurse project said:
“It’s so rewarding to see the progress in recognition and awareness of monogenic diabetes over the past 25 years and to see the real benefit this has for patients and their families.”
We're getting people the right diagnosis
Telling the difference between more common types of diabetes, like type 1 diabetes and type 2 diabetes, can also be difficult, especially in older adults. But our research has been key here too.
We helped Exeter researchers develop a cheaper, more accurate way to measure C-peptide - a molecule our body makes when it produces insulin. By measuring it, we can tell how much insulin someone’s pancreas is making.
People with type 1 diabetes have very low C-peptide levels, whereas people with type 2 have higher levels.
These tests are now available in nearly every hospital in the UK. And our research has shown how C-peptide testing is helping to prevent misdiagnosis.
Today, we’re funding research to develop more accurate diagnosis ‘calculators’. These combine biological and health information to predict which type of diabetes someone has, helping doctors make the correct diagnosis right from the start.
