THE PATIENT’S STORY
Sophie Reymbaut was diagnosed with Type 1 diabetes on 10 August in 1990 when she was eight years old. She was put on insulin and stayed on it for 27 years and four months. Then, on 11 December 2017, she was un-diagnosed with Type I diabetes. This is her story.
“Type 2 diabetes ran in the family, or so we thought – my dad’s mother had it, then my dad himself was diagnosed with it too. However, neither of them were stereotypical Type 2 diabetics and my Dad certainly did not respond to Type 2 medication management as was expected. Due to this he was tested to see if he had maturity onset diabetes of the young (MODY) – a rare form of genetic diabetes, it turned out he he had a very rare form called ABCC8 However, just then at the age of 34 I fell pregnant. During the pregnancy I was also tested for ABCC8 and it was confirmed that I too had this type of genetic Diabetes. My granny passed away a couple of years ago so she was never tested but it is assumed she also had this type. Talking to my consultant we decided it was best to continue as we were, on insulin, throughout the pregnancy. I’ve since had a baby girl and we did not know for sure until she was born and tested whether she would carry this gene also, that she would be clear of any diagnosis of diabetes. She was clear and is now nearly two years old. I was using an insulin pump and had reasonable control, but as soon as I stopped breastfeeding I came of the insulin. Now I am only on tablet medication.
“Having lived with Type I diabetes – or should I say as Type 1 diabetic as I did not actually have it – I had all the risks that other people face who have the condition. I do have retinopathy and experienced some significant retinal bleeds when I was pregnant. I still have all the co-morbidities of Type I diabetes with the higher risks with some diabetes complications, but my control is entirely more stable and therefore I should be at a lower risk going forward. I can still get some low-ish blood sugars but I just need a little sugar boost and I’m fine.
“I lived as a Type I diabetic on insulin for 27 years and four months. Every now and then I suddenly remember how much easier my life is now. As a family we love to go camping and I no longer need to pack in a second suitcase full of my diabetes supplies, nor experience that panic of having to go through security when travelling overseas. I have almost forgotten my life as a Type I diabetic. I’ve never been to a water park and now I want to, a spa day even, with no pump to worry about.
“Looking back I feel that the biggest moment in my life as a Type 1 diabetic was the move from multiple daily injections (MDI) to an insulin pump – I really felt that that change my life. Oddly, moving from an insulin pump to just tablets was a less dramatic experience. I don’t miss it, but going on a pump when I thought I had Type I diabetes really did revolutionise my life at the time. I did not go on the pump until after I got married and settled down. I was less conscious of my body image by then. I’d been offered a pump several years earlier but I was not ready for the commitment. As I said we love camping, we do it a lot and that used to be a real faff to have to sort the pump out in the dark in a field, but being in a pump helped me achieve far greater control, letting me sort out doses on the run, I could dose on the bus and not have to get an injection out.
“I was devastated to learn that my baby had a 50-50 chance of being diagnosed with the same thing; as prior to that it was only a one-in-200 of passing on Type I diabetes to my children. Now, if had another baby, I would be less worried as ABCC8 is not so hard to deal with as Type I diabetes.”
Sophie Reymbaut is a paediatric nurse and thinks that her interest in this as a career may have been due to her experience in hospitals as a result of her diabetes from an early age.
THE DOCTOR’S STORY
Professor Mark Strachan, consultant in diabetes and endocrinology at the Western General Hospital, Edinburgh, has called for every patient with Type 1 diabetes of at least 3 years duration to have a C-peptide blood test. The test costs ~£6 a time and can help identify people who need further investigation to establish the cause of their diabetes. He says, “If we identify that somebody has a genetic type of diabetes, it can have a transformative effect on their life. Also, if we can establish that an individual has another form of diabetes, such as Type 2 diabetes, again there may be alternative treatments to insulin that we can offer them. So I think it is a very important and potentially transformative test.”
Explaining further, Professor Strachan says, “The C-Peptide blood test shows how much insulin a person with diabetes is making. This can help make the diagnosis more accurate. Much research has been done into this in recent years, especially by Dr Angus Jones and Professor Andrew Hattersley at Exeter University, yet it is not integrated into many mainstream NHS practices. Our catalyst here in Edinburgh was one of our own patients, Sophie, who had been in our care for many years as someone we believed had Type 1 diabetes. A colleague working in another centre informed us that her father had recently been diagnosed with a rare form of genetic diabetes, so we thought we ought to test Sophie for it too, just in case…. When we did, it turned out that she too had that rare form of genetic diabetes. It meant that she was not Type 1 and could therefore stop taking insulin.”
As related in her story above, Sophie Reymbaut, was able to come off insulin and to go onto tablets after having to use injections (and later going on an insulin pump) over a period of nearly 27 years. “Now she doesn’t have to do any blood tests at all,” says Strachan, “And while she does still have a form of diabetes, it is under much better control than it has ever been.”
He then started to wonder how many others in his clinic with a diagnosis of Type 1 actually might have an different cause of their diabetes. He says, “Of course, as a team, we were shocked at Sophie’s diagnosis and thought, what if there are others in our clinic who we are treating as Type 1’s who are not in fact Type 1s? In light of Sophie’s case, and being aware of the pioneering work in Exeter on C-Peptide, we agreed that we had to offer this to all of our patients with Type I diabetes. We introduced the test into clinic in July 2017, so it’s been in place now for a year. We have screened people who had a diagnosis of Type I diabetes for at least three years. That delay is due to the fact that you can get false readings of C-Peptide in the early stages following the onset of diabetes.
“It’s been astonishing, exciting and eye-opening. It turned out that around 15% of our patients with Type 1 diabetes (who should have been making no insulin themselves) were making C-Peptide. We have confirmed that many of these people still do have Type I diabetes, but we are now seeing that Type I diabetes has more variation than we previously understood. It seems you can have had Type 1 diabetes for a long time and still be making quite a lot of your own insulin.”
It’s not just Reymbaut who has come off insulin.
“So far, 10 people in our Type I diabetes population of about 1,000 patients have come off insulin injections. As many as 5% of that 15% who are still making their own insulin in fact have Type 2 diabetes. That means that they, too, could potentially go on to alternative treatments to insulin. Some had been diagnosed with Type I diabetes as they had initially presented with diabetic ketoacidosis (DKA), but have since been found to have Type 2.
Beyond being liberated from blood tests and injections and the overall burden of living with Type 1 diabetes, there is an obvious cost saving associated with a person coming off expensive drug therapies. “One of our patients who had a diagnosis of Type 1 diabetes also had learning difficulties,” says Strachan, “A district nurse visited him daily to give him injections and blood tests. Having been tested and re-classified as having Type 2 diabetes, he is now off insulin. He is on tablets and a weekly injection and a district nurse now only has to visit once a week. The re-allocating of his diagnosis means there has been a huge saving in nursing time, plus he is now getting a safer and more appropriate treatment.
“Another patient, a 26-year-old woman, is also now off insulin as she also has been found to have a genetic form of diabetes. She could have been blood testing and using insulin for the rest of her life until we tested her.C-peptide testing is a very cost-effective investigation. For nearly all people, especially those diagnosed with diabetes in childhood, C-peptide will confirm that they do have the correct diagnosis, and that insulin is the best treatment for them, but in small a minority, it could be life changing. I firmly believe a C-peptide test should be used at least once after the person diagnosed with Type I diabetes has had it for three years, just to establish for certain that they do really have Type 1 diabetes.”
Of course we’d all like not to have Type 1 diabetes. Indicators are that 1-2% of people with diabetes may have the an alternative cause of their diabetes. Many diabetes centres are not yet able to offer C-peptide testing. Please see the sidebar on MODY and DiabetesGenes.org to pursue an enquiry on your own behalf.
What is C-Peptide
Beta cells in your pancreas make insulin and during that process C-peptide is also released. This doesn’t actually affect your blood sugar, but can be used by a doctor to measure your C-Peptide level in order to assess how much of your own insulin you are making. It is not used to diagnose diabetes, but can give an indication as to how to treat it. The C-Peptide test can tell the difference between insulin your body has made and insulin that you have injected.
Sidebar: What is MODY?
- Being diagnosed with diabetes under the age of 25.
- Having a parent with diabetes, with diabetes in two or more generations.
- Not necessarily needing insulin.
Read more here: Diabetes.org.uk/mody
Diabetesgenes.org aims to provide information for patients and professionals on genetic types of diabetes. It includes details of research, clinical care and educational opportunities along with information to aid differential diagnosis of diabetes to ensure correct diagnosis and treatment of these genetic subtypes. This website is run by the Monogenic Diabetes and Molecular Genetics teams at the University of Exeter Medical School and Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
News items and features like this appear in the Desang Diabetes Magazine, our free-to-receive digital journal (see below). We cover diabetes news, diabetes management equipment (diabetes ‘kit’ such as insulin pumps and continuous glucose monitoring equipment) and news about food suitable for a diabetic diet including a regular Making Carbs Count column. We just need your email address to subscribe you (it’s free, and you can easily unsubscribe should you wish to).