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Watch this Wellcome Trust video to find out more about neonatal diabetes, and how lives can be transformed through genetic discovery.
Amongst the diabetes known as monogenic diabetes, there are two groups. There are ones that run in families that typically come on later or there’s one known as neonatal diabetes which comes on in the first six months of life. Somewhere around six weeks or so, she developed a very high fever. Our paediatrician asked us to take her into the emergency room and they tested her blood work and her urine and her spinal fluid and found very high levels of glucose in those. And at that point in time, she was considered to be a diabetic. I was actually diagnosed with type 1 diabetes on the first of January, 1961. 25 years ago we discovered a protein that’s extremely important for insulin secretion.
And the name of this protein is the KATP channel. The key thing was to go and look in human patients with diabetes to see if they had any genetic changes. And the person who found those was my wonderful friend and colleague Andrew Hattersley. And I’ve never forgotten the day when he rang me up and he said, Fran I think you should sit down. I’ve got something exciting to tell you. And he told me that he’d found the first genetic changes. We took blood from people who had neonatal diabetes, and by a series of chemical process were able to extract DNA. And what we were able to show was that there were changes within the KIR6.2 gene.
And the people who had those changes had neonatal diabetes. In 2006, I got a phone call out of the blue from a Dr. Ewan Pearson from Ninewells Hospital asking me to come up for some genetic testing because there’d been a breakthrough made in the type of diabetes known as neonatal diabetes. On the 8th of May 2007, I was given a diagnosis of permanent neonatal diabetes with a mutation of the SUR1 gene. We were given an endocrinologist who came to us and at first was kind of baffled over the fact that she was so young. He had never seen a child so young with diabetes. But he had read an article a week or so previously by Dr.
Hattersley describing a type of neonatal diabetes. So he contacted Dr. Hattersley by email, and within a few hours had a response that said I think this may be what your daughter has. Send blood samples to the UK and we will test her blood. And so we did that and sure enough, she has the potassium channel defect that causes neonatal diabetes. As soon as the mutations were found, the possibility of treatment was there. And that was because of all the research that had happened prior to what we discovered. Because we already knew that this channel was key in the beta’s help. Importantly, we knew that this channel was the place where the sulfonylurea drugs bound.
Patients with neonatal diabetes have lots of beta cells and they have lots of insulin. They just don’t release it when the blood sugar level goes up. And because it was thought these children had a type 1 diabetes, they were given insulin injections from birth. But now we knew that they didn’t need to have them and they could actually have sulfonylurea drugs. I was gradually started on glycoside to try and get me off of insulin. Over a 23 month period, I’ve been transferred from insulin to glycoside. I’m now on 640 milligrammes of glycoside twice a day. What we started to find was that indeed as we slowly increase the dose of the sulfonylurea tablets that the dose of insulin came down.
And then, remarkably, they were able for the first time in their lives to stop taking insulin because now the tablets controlled it. And it’s been like night and day. I feel a lot better and the diabetes seems to be a lot better controlled now than it’s ever been. I’ve noticed it. She’s really cheered up. She’s totally different from what she used to be. She’s absolutely, like she says, night and day. I don’t know what the pills are, but they’re obviously great. I said it’s treated by a pill and that we were going to, as soon as possible, start the transition from the insulin pump to her glyburide. And so we did that. We went in, saw him and did it.
Near the next two days– Within two days, she was off of insulin when she started the pill form of the medication, within 24 hours. That changed her life absolutely.

Watch this Wellcome Trust video to find out more about neonatal diabetes, and how lives can be transformed through genetic discovery.

This video has been reproduced by kind permission of the Wellcome Trust, and is included on their Big Picture website.

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Genomic Medicine: Transforming Patient Care in Diabetes

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