By Liz Fowler

AN ANGUS woman who suffers a rare and severe form of diabetes is celebrating a leap forward in her campaign to have the cost of genetic testing for the condition met by the NHS.

Caroline James (48), of Brechin, took her case for the urgency of highlighting the condition, monogenic neonatal diabetes, to health minister Nicola Sturgeon—she is determined others will be spared the life-threatening complications she has suffered through a lack of diagnosis and treatment.

The minister assured Caroline there will be liaison with Dr Ewan Pearson, her consultant at Ninewells Hospital in Dundee, and it will be on the agenda of a working group advising the Scottish Government.

Its recommendations will be included in a national diabetes action plan.

Caroline has also been appointed UK spokesman for sufferers and, after a Courier story highlighted her battle earlier this year, has been invited to speak at an international conference in Chicago.

Caroline was diagnosed with monogenic neonatal diabetes only two years ago, after taking part in a research project sponsored by the Wellcome Trust and led by Professor Andrew Hattersley and Professor Frances Ashcroft.

They found neonatal diabetes is caused by a genetic mutation disrupting a critical potassium channel involved in the insulin secreting pathway, and that sulphonylurea drugs can restore the channel’s normal behaviour.

The discovery has transformed the lives of many patients like Caroline, with pills replacing daily injections.

She no longer requires insulin, but her blood sugar levels are within the range expected in a healthy person thanks to sulphonylurea which she takes as tablets.

The pills, which mimic the pancreas and produce insulin, only work in patients who were diagnosed with diabetes in infancy.

Tragically for Caroline, the disease had already taken a huge toll—she is registered blind and is in the final stages of kidney failure.

She said, “It’s too late for me. I have to get on with my life and make the best of it.

“I am just so relieved the cause has been found now and it can be treated. I never thought in a month of Sundays a cause would be found.”

She added, “The final step is to have it recognised and brought into the scope of the NHS. At the moment funding for the genetic testing is provided by the research organisation Diabetes UK.

“A vial of insulin for an injection pen costs £100 and the pen £80, whereas a pack of 28 sulphonylurea tablets costs just over £1.”

Caroline was barely a month old when she was diagnosed with type 1 diabetes and started on insulin.

She has since suffered numerous complications related to the condition. First, she was believed to have epilepsy.

Then she suffered strokes and had a blood clot which left her weak.

Caroline is registered blind due to diabetic retinopathy and has had several related operations.

Despite missing a great deal of school she earned a place at Dundee University and graduated with a BSc in nursing, but was forced to take early retirement from Dundee’s Royal Liff Hospital.

Her mother, brothers and daughter are incompatible kidney donors, so testing has begun on her partner John and his family.

In the meantime Caroline is awaiting delivery of a home dialysis machine.

She has also suffered diabetic neuro-pathy or nerve damage in her hands, arms, feet and lower legs, leaving her without feeling.

She has gastroparesis, which means her abdominal muscles don’t work properly and she has difficulty digesting food.

She is being given botox injections to paralyse the muscles but if these don’t work the only alternative is to be fitted with a stomach feeding tube.

Caroline said, “All of this could have been prevented if my diagnosis had come to light 10 years ago. I don’t want the right treatment to be so late for others.”