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Skip to 0 minutes and 7 secondsSo about nine months after I was diagnosed, I had the genetic test done. So some blood was taken and sent to Exeter. And the diagnosis came back pretty soon afterwards that I had MODY3 diabetes. And it was completely different, really. That very day when we got the diagnosis, we decided to stop the insulin, and I felt completely different. Completely different straightaway, and it was brilliant, actually. It was a really, really good day. I can't remember very much about the day, but I remember getting out on my bike and going for a long bike ride, and having just a wonderful time. It was a nice, sunny day. I think it was in May. It was just brilliant.

Skip to 0 minutes and 41 secondsI was so pleased that I didn't have to stab myself in the stomach anymore, and I didn't have to pass out anymore. So it was brilliant. It was a really, really good day. When I got to my A-levels, I was really struggling through my AS-levels. It even got to the point that the teachers wrote it off. They said to me, you won't be-- with those AS grades, you won't get into vet school. So once I was diagnosed correctly with a MODY, I had to resit all my AS and A levels in one year. And I got the grades, which is good.

Skip to 1 minute and 9 secondsAnd I ended up-- I farmed again for a year, then I was a herdsman on a farm nearby, and then went to vet school and had a great time and everything. And now turned out I end up wrestling cows all day, every day, and I love it. I love it. When I'm not wrestling cows I like to spend as much of my time outside as possible, and I like going out into mountains for long trips, climbing, and other sports, like mountain biking and paragliding and everything. So I do really, really enjoy my active lifestyle, and it's something that I really struggled with when I was on insulin. I really had it taken away. It was difficult.

Skip to 1 minute and 47 secondsIt was very difficult to deal with.

Misdiagnosis

Dan explains in the video how getting a genetic diagnosis and coming off insulin changed his life.

Around 80% of patients with monogenic diabetes are initially misdiagnosed as having type 1 or type 2 diabetes. This is usually a consequence of unfamiliarity with monogenic diabetes. For example, a diagnosis of type 1 diabetes may be made in a young person where the family history of diabetes is not considered relevant or a diagnosis of type 2 diabetes may be made in a patient who is older or overweight. Taking a thorough family history noting particularly ages of diagnosis, treatment and BMI can help identify those families with autosomal dominant inheritance which would be worth investigating further.

Misdiagnosis can impact on treatment with patients taking unnecessary insulin injections or tablets which are sub-optimal for the subtype of MODY or patients with Glucokinase MODY being given treatment which is not needed at all. In the UK there is a national network of Genetic Diabetes Nurses who raise awareness of monogenic diabetes and discuss local cases. They are also trained in supporting patients through genetic testing and treatment change. Some patients who have previously been told they have ‘type 1’ diabetes find it initially hard to adjust to a life without insulin injections and need support in transferring to tablets.

Misdiagnosis can also impact on advice regarding the risk of other family members developing diabetes. If an individual has a monogenic cause of diabetes, the risk to their children of inheriting the same genetic change and developing diabetes is 1 in 2, or 50%, in contrast to around a 30% lifetime risk to children of a parent with type 2 diabetes or 2-6% to children of a parent with type 1 diabetes.

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This video is from the free online course:

Genomic Medicine: Transforming Patient Care in Diabetes

University of Exeter