NHS England to train staff in all trusts to spot rare type of diabetes

[Northerner]

People with a rare form of diabetes may receive better treatment and discover whether their children are also affected under new plans from NHS England.

Monogenic diabetes is caused by a single gene mutation – although the specific gene affected can differ. The condition occurs in two types, neonatal – which can occur within the first six months of life – and maturity-onset diabetes of the young that develops later, often before the age of 25.

While about 12,000 people in England are thought to have monogenic diabetes, accounting for 1% to 2% of all diagnoses, the condition can be hard to tell apart from type 1 and type 2 diabetes, which are more common and thought to involve genetic predisposition and other factors.

Now NHS England has announced plans to improve diagnoses of monogenic diabetes by ensuring there is training and support for a designated nursing and medical lead in each NHS trust. Up to 280 staff are to be trained on how to spot the condition over the next year. Among the tools available to clinicians is an online probability calculator.

NHS England to train staff in all trusts to spot rare type of diabetes

About 12,000 people in England likely to have monogenic diabetes, which is difficult to diagnose

www.theguardian.com

 

[mikeyB]

Your headline would suffice without the words “rare type of”. Most doctors still can’t believe that T1 can occur at any age, let alone a variety that affects only 12,000 people. Out of 55 million. Or that Chronic Pancreatitis causes T2.

12,000 folk who are diabetic are ignorable if they get the appropriate treatment. It doesn’t matter what their genes are doing, as long as the diabetes is treated appropriately. It doesn’t matter what their genes are doing, it’s only of academic interest. It does not need special training.

Would that training affect treatment? If not, then this genetic testing is a waste of time and effort. And don’t forget, this question has long been answered by doctors asking the question “Anybody else in the family

They also mention it’s not always the same gene. I could have told them that before they started. Whenever you get only partial inheritance, as with T2, it’s obvious that more than one gene is involved.

And finally, how do they know it’s rare? Have they tested all 4.5m folk with diabetes?

 

[Northerner]

Your headline would suffice without the words “rare type of”. Most doctors still can’t believe that T1 can occur at any age, let alone a variety that affects only 12,000 people. Out of 55 million. Or that Chronic Pancreatitis causes T2.

12,000 folk who are diabetic are ignorable if they get the appropriate treatment. It doesn’t matter what their genes are doing, as long as the diabetes is treated appropriately. It doesn’t matter what their genes are doing, it’s only of academic interest. It does not need special training.

Would that training affect treatment? If not, then this genetic testing is a waste of time and effort. And don’t forget, this question has long been answered by doctors asking the question “Anybody else in the family

They also mention it’s not always the same gene. I could have told them that before they started. Whenever you get only partial inheritance, as with T2, it’s obvious that more than one gene is involved.

And finally, how do they know it’s rare? Have they tested all 4.5m folk with diabetes?

Indeed. I'm extremely unusual/rare, given that I don't even fall into this 'rare' category (I'm officially described now as Type?, treated as Type 1 😱 ) but there is only an academic interest in investigating the origins of my type since I am managing very well on my treatment regime 🙂 Certainly not worth anyone spending any time learning about me because it's extremely unlikely they'll ever encounter it.

I remember years ago learning about MND, in preparation for an interview with the MND Association - it was the first time I think that I had realised that some conditions, such as MND (back then, at least) were so relatively rare that it wasn't worth drug companies etc. putting resources into it

 

[mikeyB]

If you think MND is relatively rare (5000 cases in the UK, 1100 diagnosed each year) my variant of the disease (PLS) is 3 in 100 of those cases. We could all fit into one Tube carriage.

Around 15% of those 5000 have a family history of MND later in life, so in some it would appear to be genetic, but the other 85% of us I think realise that nobody is going all out to find a cure, or treatment because it’s not worth all the effort. I suspect any treatment will be discovered serendipitously. I continue my research into CBD, which certainly relieves some of the symptoms.

That should convince folk of the futility of trying to find out if you have monogenic diabetes, because the treatment is exactly the same, and for sure doctors aren’t going to waste money looking for it just for the benefit of knowledge for 12,000 people.