The University of Exeter’s world-leading diabetes research team has asked for donations to continue a global genetic testing program that can dramatically improve the lives of babies born with diabetes.
In the University of Medical Research’s first crowdfunder, the team plans to raise £ 100,000 to run the genetic testing program for 500 children with newborn diabetes who will be diagnosed with diabetes within the first six months of life. To achieve the goal, funding raised will be matched by a donor on a pound-for-pound basis up to a value of £ 50,000.
The genetic test will result in the cause of diabetes being identified in over 80 percent of children. Knowing the cause as soon as possible is important so that the child can receive the best treatment and care for their diabetes and other related medical problems.
For half of these children, finding the genetic cause of their diabetes means replacing insulin injections with sulfonylurea tablets, a cheaper and easier treatment that allows them better sugar control.
In low- and middle-income countries where insulin is expensive and scarce, this genetic diagnosis can be life-saving.
For the past 17 years, the Exeter Genetics team, using research funding from the Wellcome Trust, has provided a genetic testing service to anyone diagnosed with diabetes before the age of six months.
The purpose of the funding was to identify genes that cause the disease, which was successful. Now the team needs a new source of funding to continue the diagnostic service. While this is offered for free on the NHS in the UK, it would be out of the reach of more than 3,000 patients from over 100 countries who have so far received a genetic diagnosis from Exeter.
The program builds on a breakthrough discovery made in 2004-2006 when research led by Professor Andrew Hattersley, CBE at the University of Exeter found that approximately half of people with neonatal diabetes had causes related to tablets could be treated more effectively than with the previous standard treatment of regular insulin injections.
Professor Hattersley said, “Switching from regular insulin injections was life changing for these people who had been on insulin their entire lives – many described it as a ‘miracle treatment’.
“The genetic testing service that we provide in Exeter is absolutely essential to ensure that these children born with diabetes, anywhere in the world, are receiving the best possible treatment. Nobody should be denied these tests, regardless of where they are born.
“By supporting this crowdfunding campaign, you will have a huge impact on children’s lives. Those who can switch to pills have much better control over their glucose, preventing dangerous complications in children. “
Newborn diabetes is a genetic form of diabetes. By testing blood samples, the genetic cause of diabetes can be identified in 82 percent of all people.
This informs about treatment decisions, determines the risk of future children in families having the condition, and shows whether additional complications such as liver disease are likely to develop.
The cost of a blood test is £ 200, which means the experts can tell a family which gene is causing their newborn diabetes.
If the test shows that the child is more likely to be treated with tablets than insulin, the child can be transferred from insulin to tablets immediately.
Sarah Flanagan, Associate Professor of Genomic Medicine and Sir Henry Dale Research Fellow at the University of Exeter, said analyzing the samples collected through the genetic screening program also provides important insights into how insulin is excreted, which may help that Advance research for both type 1 and type 1 type 2 diabetes. Most importantly, it helps children who are directly diagnosed with neonatal diabetes.
Professor Flanagan said, “In lower-income countries, access to insulin is often limited and too expensive, and limited economic resources make it difficult to control blood sugar.
“It would make such a big difference and save many children’s lives if they could switch to pills instead of insulin injections, and we really hope that together we can fund tests for at least 500 children in our program.
“Every donation, large or small, is greatly appreciated and will make a huge difference in the lives of these children.”
To donate, please visit https://exeter.hubbub.net/p/diabetes/
Jack’s story
Exeter team “saved Jack’s life”
Sister Emma Matthews experienced a 24/7 nightmare of fear for her son’s life until he switched treatment for his newborn diabetes in 2004.
Emma had feared that her beloved five-year-old, Jack Neighbor, would not live to see his sixth birthday.
He was prone to regular attacks known as hypos that caused him to collapse on the ground. He had never spoken a word or communicated with his family through picture cards.
That changed when analysis by the Exeter University Medical School team found the genetic misprint that caused his neonatal diabetes.
Just six weeks later, after changing treatments, he delighted his family with his first words: the simple phrase “Hello, Mom”.
Emma of Leigh-on-Sea, Essex said: “I can honestly say that the correct diagnosis of Exeter saved Jack’s life. It was absolutely transformative. We’ve moved from being a horror movie to being in a rom-com.
“I am so grateful and really want to encourage people to donate to continue this incredibly important life-saving work.”
Since he was a baby, doctors had assumed that Jack should be treated with insulin because his body was no longer making its own.
The Exeter group tested the exact cause of this insulin deficiency and found that he had a mutation in a potassium channel and was therefore able to switch to tablets, which was an easier and more effective treatment.
Breakthrough treatment at Exeter made it much easier to control Jack’s diabetes and family life turned from a “living nightmare” to a home of laughter. 21-year-old Jack no longer has to prick his finger up to 15 times a day to check his volatile blood sugar levels.
Mrs. Matthews remembered her agony.
“We woke up manic at night with Jack because his blood sugar level was so high or with cramps on the floor because he was so low.
“We couldn’t take part in normal activities because we had to take so many medicines and bags of sugar to cover all contingencies. It was a living nightmare and we were all absolutely shaken.
“Within a few weeks it became clear that Jack’s blood sugar levels were really stable. He had stopped collapsing on the floor and suddenly started smiling and laughing. He became a really happy little guy.
“Jack will always have severe special needs, but now his diabetes just isn’t a problem. It really was a miracle for us.”
Newborn 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 that affects insulin. This means that blood sugar levels in the body are rising dangerously high.
Today Jack’s diabetes is treated so well that Emma hasn’t had to worry about his condition since he changed treatment. Emma said, “The Exeter team helped my son develop into the wonderful young man he is today. By funding this program, you are directly changing young life. “
Sophie’s story
The diagnosis helped Sophie lead a more independent life
Nick and Jackie Tasker, who live near Taunton, Somerset, were first told that their daughter Sophie had diabetes when she was only three months old. Life became a carefully planned cycle of insulin injections and blood tests that left her thighs bruised, and family fun like eating out or taking a vacation was out of the question.
Sophie said, “I had to be very careful about what I ate and I was always hurt. I felt confident 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 pills has made a dramatic difference to her health. Now 32 years old and a social worker at a school for special needs children, she said life has gotten much better.
Sophie said, “It’s fantastic – I feel a lot more relaxed and I can be a lot more independent because I don’t run the risk of breaking down with low blood sugar.”
Mr. Tasker, a retired lecturer, said, “We have never looked back since that first diagnosis. Our lifestyle is much 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 wants.
“I would really encourage people to donate to this research. It changed our lives tremendously and enabled Sophie to be far more independent. Supporting this research really helps young people reach their potential. “
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