Ru Kovvuri explains about her battle to get a diagnosis and support for her daughter who had multiple medical problems and learning difficulties as a result of a deletion of the HNF1B gene. Rhian Clissold discusses her research to improve the diagnosis of the HNF1B syndrome and recognise the associated learning difficulties seen with loss (deletion)  but not the spelling mistakes (mutations) in the HNF1B gene.

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Grant King talks about his diagnostic journey where his low birth weight, childhood kidney disease, diabetes, liver dysfunction and infertility were at 32 years finally recognised as all being due to a change in the HNF1Beta gene. Dr Coralie Bingham explains how her research during her PhD in Exeter led to HNF1Beta being established as the commonest cause of inherited kidney disease and all the key parts of the HNF1Beta syndrome being recognised.

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Natalie Raphael was diagnosed as having glucokinase MODY at the end of her first pregnancy. In her second pregnancy she had a recently introduced blood test that showed her fetus had not inherited her change in the glucokinase gene so was at risk of growing large. As a result of this she was given long-acting insulin to lower her glucose.  Alice Hughes is the researcher who did the key study that proved the new blood test was both practical and accurate in glucokinase pregnancy.

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It was a great surprise for Gill Preston, who was active and slim, when she was diagnosed with gestational diabetes in her first pregnancy. Her raised fasting glucose did not come down with tablets or insulin. Luckily she met Andrew Hattersley in the diabetes pregnancy clinic, who recognised she had glucokinase MODY. Gill Spyer, working for her PhD as a research doctor showed that in glucokinase pregnancy the size of the baby depended on whether they inherited the genetic change from the mother and was not altered by insulin treatment. When the baby had the mutation it would grow normally and no treatment of the mother was needed. Ali Chakera continued research into glucokinase pregnancy; his research showed that slim women ( BMI <25) with a raised fasting glucose of above 5.5mmol/l had a 1 in 3 chance of having GCK MODY and should be tested. He also looked into genetic testing the fetus directly rather than trying to infer from fetal growth on ultrasound.

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In this episode we talk to Andrew Lotery about how he was found to have a raised fasting glucose on an insurance medical. He was treated as Type 2 diabetes but he questioned this as he was young. slim and physically fit. A chance reading of a research funder’s newsletter led him to the Exeter team and a diagnosis of glucokinase MODY.  

Amanda Stride worked as a research registrar in Exeter.  She showed that in glucokinase MODY the fasting glucose was raised from birth and remained stable and regulated throughout life with treatment not changing the blood glucose. 

Anna Steele showed in her PhD that patients with glucokinase MODY did not get complications affecting the eye or kidney even after 50 years of raised glucose.  So in glucokinase MODY treatment with insulin or tablets is not needed and does not work; patients should be discharged and not followed up.

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In this episode we talk to Janette and her daughter Alice who were both correctly diagnosed with HNF4A MODY having been initially told they had Type 1 diabetes. The diagnosis not only allowed them to stop insulin but also explained the mystery of two of Jeanette’s children that were born as large babies and collapsed soon after birth with low blood sugar. Andrew explains how it was discovered that babies that inherited the HNF4A genetic change were on average over 800g heavier and were at high risk of low blood glucose around birth

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Mary Lee was thought to have Type 1 diabetes for over 3 decades; she was finally diagnosed with HNF1A MODY and was able to stop her insulin injections and get excellent blood sugar control with a sulphonylurea tablet.  We hear from Ewan Pearson how sulphonylurea tablets were found to be excellent glucose lowering treatment when Andrew’s clinical observations of his HNF1A MODY patients were followed up by Ewan with a clinical trial.

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Kevin Colclough describes how the genetic testing in diabetes has improved over the 2 decades he has worked in the Exeter NHS diagnostic lab.  His work means now over 60 types of single gene diabetes are looked for in one sequencing test. Bev Shields talks about how she developed the amazing MODY calculator that uses common clinical characteristics to work out how likely a person with diabetes is to have maturity onset diabetes of the young (MODY).

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Mary Humphries tells how her son Dan was diagnosed with diabetes aged 16 and it was assumed he had type 1 diabetes and treated with insulin.  On insulin he had terrible problems with low blood sugars frequently losing consciousness and not managing to concentrate at school or at home.  Mary was very worried that he was getting worse on the insulin and asked about genetic tests because she had recently been diagnosed with Type 2 diabetes and there was diabetes in all generations of her family.  She was not listened to; the insulin was continued, and Dan got worse.  Searching the internet for answers she found the Exeter diabetesgenes.org website which led her to talking to Andrew and Maggie. 

They were able to rapidly diagnose that this was Maturity-onset Diabetes of the Young (MODY), subtype HNF1A . with a genetic test.   Maggie  helped Dan to stop his insulin and get excellent control on a quarter of the sulphonylurea tablet called gliclazide.  Dan rapidly improved off the insulin and passed his A levels with flying colours going to Bristol where he achieved his life’s ambition to become a large animal vet.  

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Dr Nick Thomas talks about Type 1 diabetes in the older adult. In an iconoclastic study he showed most cases of Type 1 diabetes occur in adults rather than children. In older adults it is very hard to recognise as 98-99% of people with diabetes have Type 2 diabetes. Older adults with Type 1 diabetes have just as rapid a decline in their own insulin and need all the expert care offered to children. 

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