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Families unite to celebrate diabetes breakthrough

By Western Morning News  |  Posted: April 17, 2014

Sophie Tasker, pictured with her mother, Jackie, was one of the first people to be diagnosed by the Exeter team

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The lives of diabetes sufferers and their families across the world are being transformed by treatment pioneered at one of the South West’s leading universities.

For five years Emma Matthew’s life was a stressful cycle of blood tests and insulin injections as she cared for her son Jack, who suffers from a rare form of neonatal diabetes.

Jack frequently experienced hypos – low blood glucose levels – which caused him to collapse and would often result in seizures. Further diabetes-related developmental delays left Jack unable to speak and reliant on picture cards to communicate with his family.

“Life revolved around Jack’s diabetes and making sure he was safe,” Emma said. “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.”

This all changed when a breakthrough at the University of Exeter medical school introduced a new method of treating Jack’s form of diabetes.

In 2004 a team of scientists led by Professors Andrew Hattersley and Sian Ellard discovered that in some patients with neonatal diabetes the genetic mutation responsible for impairing their body’s insulin production also caused abnormalities in channels in the pancreas.

The researchers found they could correct the defect using a medication called sulphonylurea. The drug enables cells in the pancreas to release their own insulin – the hormone responsible for controlling blood glucose levels – removing the need for insulin injections.

Emma contacted the team at Exeter after she came across an article about the treatment in a national newspaper.

“Within a week Jack was tested and diagnosed [with the defect],” she said. “Within three days on the new medication he started showing signs of not needing insulin.

“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.

“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.”

Neonatal diabetes affects around 1 in 100,000 babies and results in epilepsy and developmental delays such as learning difficulties and muscle weakness in around 20% of cases.

About half of patients diagnosed with the illness will have the pancreatic abnormalities that can be treated by sulphonylurea tablets.

Sophie Tasker was 18 when she became one of the first people in the country to get diagnosed by researchers at Exeter and said the change to tablets made a “dramatic difference” to her life and her health.

“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,” the now 25-year-old welfare officer said.

“[Before] 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.”

On Monday, April 14 Sophie and her parents joined Emma, Jack and 32 other families from around the world at an event organised by Exeter Clinical Research Facility to bring together individuals who had been affected by the medical breakthrough.

Ms Matthews described the day as “astounding” and “uplifting”.

“For the first time we were able to meet children like Jack,” she said. “I found it incredibly emotional to hear from the young people themselves how much better they felt after switching to the treatment.”

Professor Ellard said the university was “delighted” to welcome the families.

“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,” she said.

“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.”

The Exeter team’s discovery has prompted changes to international guidelines on treating neonatal diabetes. All people diagnosed before nine months of age can now get a free genetic test to identify which treatment they need.

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