“Miracle treatment” families gather at Exeter centre of excellence

Family life was transformed from a “living nightmare” to a home filled with laughter, after Jack, now 14, was given a genetic diagnosis by the team at the University of Exeter Medical School, based at the Royal Devon & Exeter NHS Foundation Trust. He switched to the treatment that the research team pioneered, meaning his diabetes was far easier to control. He no longer had to have his finger pricked up to 15 times a day to check his volatile blood sugar levels.

Jack’s mother, Emma Matthews, told her story while taking part in an event, organised by the National Institute for Health Research (NIHR) Exeter Clinical Research Facility, which brought together 34 families from across the world who have benefitted from the Exeter group’s research into genetic causes of neonatal diabetes, with support from the Wellcome Trust and Diabetes UK.

She recalled how her son’s fingers were “black and blue” from constant pricking. “It was just hideous,” she said. “I’m a nurse, and I had to work nights and my husband had to work days, so Jack always had someone with him who knew how to manage his diabetes. We had no family life. 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.”

The turning point came when a relative spotted a newspaper report about a boy whose life had been transformed by his diagnosis by the Exeter researchers, and by switching treatment. Ms Matthews, from Essex, contacted the Exeter team, and soon had the diagnosis that changed everything. “At that point, Jack was still in nappies. He was often very whingey and whiney, and he never spoke. He made sounds and we communicated through a system of picture cards. 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. Six weeks later, he came out of school and all the staff were grinning from ear to ear. He came up to me with this big smile on his face and said ‘hello mummy’ – the first words he had ever spoken. Now he never shuts up! Jack will always have severe special needs, but now his diabetes just isn’t an issue. For us, it really was a miracle.”

Ms Matthews said she values the family days organised by the Exeter group, as they give families the chance to hear about the latest advances in neonatal diabetes research. But equally as importantly, they offer the opportunity for them to come together in support. “Jack now has the mental ability of a four-year-old, so he’ll never be able to articulate the change in him, although it’s obvious to us,” she said. “I find it incredibly emotional to hear from the young people themselves how much better they felt after switching to the treatment. It made it easier for me to understand how Jack was feeling, too.”

Nick and Jackie Tasker, who live near Taunton in Somerset, were first told that their daughter Sophie had diabetes when she was just three months old. Life became a carefully scheduled cycle of insulin injections and blood tests which left her thighs covered in bruises, and family pleasures such as eating out or taking a holiday were out of the question.

Sophie said: “I had to be really careful about what I ate, and I was always bruised. I felt self-conscious about taking my insulin - if we were in public, I’d inject myself under the table.”

At 18, Sophie was one of the first people in the country to be diagnosed by the Exeter team. Switching from insulin to tablets made a dramatic difference to her health. Now 25 and a welfare officer at a school for children with special needs, where mother Jackie is a teaching assistant, she said life was much improved. Sophie said: “It’s fantastic – I feel much more relaxed and I can be far more independent because we don’t have a risk of collapsing with low blood sugar.”

Mr Tasker, a lecturer at Bridgwater College, said: “We’ve never looked back since that first diagnosis. Our lifestyle is far more flexible. When Sophie was a baby, we had to weigh her food to the nearest gram – now she can eat what she likes, when she likes. We’re really proud to be part of this research, and particularly that a change in international guidelines means young children around the world will never have to go through what Sophie endured.”

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 300 people have been successfully treated across the world. Thanks to the partnership between the Medical School and the RD&E, which brings together scientific innovation with the best clinical practice, Exeter is an international centre of excellence in the field. 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. Professors Andrew Hattersley and Sian Ellard, of the University of Exeter Medical School, have funding from the Wellcome Trust to continue this work until at least 2020.

Professor Sian Ellard said: “We’re delighted to welcome these families from all over the world to Exeter. It’s always extremely gratifying and humbling to see first hand that research by the team at the University of Exeter Medical School is yielding real benefits to families. In many cases, their diagnosis and the switch from insulin injections to tablets has significantly improved blood sugar levels and allows them to eat a normal diet. Some have seen better muscle strength, concentration and sleep patterns. This family day is a chance for us to learn from them about how clinical care can be improved, as well as to follow their progression. It’s also a valuable chance for families to get together and support each other.”

Dr Alasdair Rankin, Diabetes UK Director of Research, said: "It’s really important to know if your child has neonatal diabetes so that they can start getting the tailored treatment they need. We’re proud to have funded research that has led to a better understanding of the genetic causes of this rare condition, providing answers for parents and improving the lives of children affected.”