For further information about the precision medicine approach at Exeter, please contact Brooke Sing (B.L.Sing@exeter.ac.uk).
A mother's story
Nurse Emma Matthews believed her five-year-old son, Jack Neighbour, would not survive beyond his sixth birthday, because his health was so volatile. He had never spoken a word, and communicated with his family through picture cards.
It all changed when analysis by the team at the University of Exeter Medical School pinpointed the genetic misprint which caused his neonatal diabetes. Just six weeks later after switching treatment, he delighted his family by uttering his first words: the simple phrase "hello, mummy".
Since he was a baby, clinicians had assumed that Jack should be treated with insulin because his body no longer produced its own. The Exeter group tested for the precise cause of this lack of insulin, and found that he had a mutation in a potassium channel and so could switch to tablets, which was an easier and more effective treatment.
The treatment, pioneered in Exeter, made Jack’s diabetes far easier to control, and family life was transformed from a “living nightmare” to a home filled with laughter. Jack, now 14, no longer has to have his finger pricked up to 15 times a day to check his volatile blood sugar levels.
"Within just a few weeks of switching treatment, it became obvious that Jack’s blood sugar levels were really stable. He had stopped collapsing on the floor and he suddenly started smiling and laughing. He turned into a really happy little chap. Jack will always have severe special needs, but now his diabetes just isn’t an issue. For us, it really was a miracle."
Emma Matthews, mother of Jack Neighbour
Ms Neighbour recalled her anguish. “We’d wake up in the night with Jack completely manic because his blood sugar level was so high, or in convulsions on the floor because it was so low. We couldn’t take part in normal activities because we had to take so much medication and bags of sugar, to account for any eventuality. It was a living nightmare and we were all absolutely shattered.”
“Within just a few weeks of switching treatment, it became obvious that Jack’s blood sugar levels were really stable. He had stopped collapsing on the floor and he suddenly started smiling and laughing. He turned into a really happy little chap. Jack will always have severe special needs, but now his diabetes just isn’t an issue. For us, it really was a miracle.”
Neonatal diabetes is diagnosed within the first six months of life, and can be associated with complications such as severe learning difficulties or epilepsy. It is caused by a change in a gene which affects insulin. This means that levels of blood glucose (sugar) in the body rise dangerously high.
The treatment breakthrough came when the Exeter-based scientists discovered that genetic mutations which lead to neonatal diabetes sometimes caused abnormalities in a channel within the pancreas. They realised that the abnormal channels could be corrected by taking sulphonylurea tablets to allow the patient’s pancreatic cells to release their own insulin and that injections were no longer needed.
To date, more than 1000 people have been successfully treated across the world. The team’s discovery has changed international guidelines, so that all children with neonatal diabetes should now have a genetic test, to see if they too can switch to tablets.