Mitochondrial disease and Type1A

[worcesterwoman]

Hi everyone

I have just received results of a muscle biopsy that puts me in the mitochondrial disease 'box'. This is a relief, in that I now have a reason for the dizziness/co-ordination/mobility problems I suffer with.
However, I have been advised that I probably don't have type 2 diabetes (as previously diagnosed), but in fact type !A and therefore should not be touching Metofrmin SR because of the risk of Lactic Acidosis in mito patients. I've been off it for four days and have seen some quite alarming changes in my overall health, mostly good except for raised blood glucose levels. Mitos are also advised to have a bolus plus three additional injections per day rather then the twice daily Nonmix30 that I am on.

I am a bit stuck now as I am still waiting to see a consultant for guidance regarding the mitochondrial issues, and my GP is happy to say that I now have a medical problem that falls outside of general practice. I waited 9 months for the biopsy result to come through and have no idea how long a possible hospital appointment would take, there are only three centres in the UK for this problem.

At this point I am at a loss as to what to do regarding increasing my existing insulin in an attempt to bring my bg down, one of the problems mitochondrial patients have are periods of raised bg for no apparent reason which then drop unaccountably. I am in such a period and have also got the extra problem of having dropped the Metformin SR.

Does anyone else have experience of this and how to up dosage of insulin? I feel, at this rate, that by the time I get to see a consultant I'll be three quarters dead.

 

[phoenix]

Hi, I can understand your doctor not knowing anything about Mitochondrial Diabetes as it's fairly rare ( I assume that it is what you mean, sorry if I've got it wrong) The big problem is that there is a lot of information about the mechanics and genetics of it but very little about the treatment.

I think that you mean that you should be taking a basal insulin plus injections of rapid with food . This regime is far more flexible than the mixed insulin that you are on. (I found one source that confirmed this http://www.diabetesbible.com/condition/mitochondrial-diabetes/management )
The mixed insulins really do need a fairly fixed regime and that in turn relies on the body acting in a fairly predictable way.

Whilst you are waiting for a specialist hospital appointment, I wonder if you could get an appointment to see a specialist diabetes nurse who could initiate a change of treatment . The basal bolus regime is probably the main method used by most T1s today (most of use prefer not to have a rigid daily regime! ) There is quite a lot of educational material to help develop your skills in it's use.

Your GP or DSN might also be able to get some information to help you whilst waiting for the appointment, by contacting one of the specialists direct. http://www.diabetesgenes.org/content/genetic-diabetes-nurses-locations-map

Having said that, there are some T1s on here that have used mixed insulins successfully in the past and hopefully they can give you some advice.

 

[kesun]

Hi worcesterwoman,

I too have mitochondrial diabetes. My understanding is that it varies enormously and can form a part of several different mitochondrial syndromes. Mine was first thought to be MELAS (Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes) without the encephalomyopathy but is probably MIDD (Maternally Inherited Diabetes with Deafness) without the deafness!

I have insufficient insulin production, especially overnight basal insulin, and co-enzyme Q10 deficiency. You can scare yourself with descriptions of the various mito syndromes here: http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934629/k.4C9B/Types_of_Mitochondrial_Disease.htm, but my experience is far less severe than any of them. I expect your consultant will try with you to work out which syndrome you have - remembering that there are probably many more as yet undiscovered.

As to insulin, I used to inject it but since going low-carb-high-fat and starting co-enzyme Q10 supplements I no longer need it, though I've been told that the condition is progressive, so chances are I will need to go back on insulin at some point.. But I do currently still have a reasonable level of insulin production - my blood glucose was consistently around 12-14 when I was diagnosed, fasting and post-prandial. So my experience may not completely apply to your situation. However, I would strongly advise you to try LCHF and Q10 - get the latter over the counter if your GP won't prescribe it. 100mg a day worked for me for a couple of years, thought I now need 200mg. But not the massive 1000+mg doses you read about in the studies.

If you are on statins, you should stop taking them. I know this is controversial, but if there's any chance you have Q10 deficiency then statins are definitely contra-indicated. I'm one of the few people who've been told by a consultant to avoid statins despite high cholesterol, and this is the reason.

Best of luck,
Kate

 

[debbiiee]

Type 1A is idiopathic type 1 diabetes, also known as ketosis prone diabetes type2 or flatbush diabetes??? The thread title makes me think so

Sent from the Diabetes Forum App

 

[phoenix]

It's normally classified as an 'other spe cific' type because it has a known genetic cause (rather than 1a autoimmune or 1bidiopathic ; T1 of unknown cause) http://care.diabetesjournals.org/content/27/suppl_1/s5/T1.expansion.html

 

[debbiiee]

Thankyou phoenix

Sent from the Diabetes Forum App

 

[worcesterwoman]

Thanks for those replies everyone. I have started Co enzyme Q10 at 300mg, along with vitamin E and B complex and have felt some benefit. At the moment I have no consultant assigned, the last one was happy to hack a bit of muscle and send it off to Newcastle, but is now way out of his area of expertise.
I'll get a telephone consultation with my GP and see if the Diabetic Nurse can be authorised to change my insulin regime, sounds like the besy way forward while I wait to see a consultant for more specific guidance.

 

[worcesterwoman]

Hi, I can understand your doctor not knowing anything about Mitochondrial Diabetes as it's fairly rare ( I assume that it is what you mean, sorry if I've got it wrong) The big problem is that there is a lot of information about the mechanics and genetics of it but very little about the treatment.

I think that you mean that you should be taking a basal insulin plus injections of rapid with food . This regime is far more flexible than the mixed insulin that you are on. (I found one source that confirmed this http://www.diabetesbible.com/condition/mitochondrial-diabetes/management )
The mixed insulins really do need a fairly fixed regime and that in turn relies on the body acting in a fairly predictable way.

Whilst you are waiting for a specialist hospital appointment, I wonder if you could get an appointment to see a specialist diabetes nurse who could initiate a change of treatment . The basal bolus regime is probably the main method used by most T1s today (most of use prefer not to have a rigid daily regime! ) There is quite a lot of educational material to help develop your skills in it's use.

Your GP or DSN might also be able to get some information to help you whilst waiting for the appointment, by contacting one of the specialists direct. http://www.diabetesgenes.org/content/genetic-diabetes-nurses-locations-map

Having said that, there are some T1s on here that have used mixed insulins successfully in the past and hopefully they can give you some advice.

I've just checked for a specialist diabetic nurse and the West Midlands (and East Midlands ) don't have one. The nearest is Oxford but she doesn't cover us, I checked the list to be sure if she might be filling in or something.

 

[CeeJ]

Hi,

I have also just this week had the results of genetic testing and found out that I have MIDD. To be honest I am in a bit of shock. I have had slightly raised BG for 2.5 years (started age 32) and have been controlling it with diet and exercise. Hats off to my consultant for recognising I had a genetic type and getting me tested but he confessed he didn't know a huge amount about MIDD. I've been reading up about it on net and it's got me quite worried, I can handle going onto insulin but the deafness blindness kidney failure and muscle wastage are concerning!
What are your experiences of MIDD? The only other people I know with Midd are my mum, aged 62, diabetic since 27, metformin for 19 years, now on insulin, just got hearing aids, no other complications. My uncle, on insulin from age 25, deaf, no other complications but died of heart attack aged 47, grandmother, diagnosed as type 1 in late 1940 in her late 30s. Died of heat attack in mid 50s. My sister has hearing aids but no diabetes (she is 33). Is it just a matter of time before I go deaf and my sister gets diabetes. And what about the other common symtoms of Midd, are they enviable too are is each family/person different?

Sorry if I seem pessimistic, it's been a lot to take in and the only real source of info has been the net/my family history. Hopefully some if you guys have some more positive info.

Also I have seen that members called Sirzy and oldeboy and Csharp also have MIDD but I could work out how to tag them to this post. Olds boy and CSharp also don't seem to have been on forum since 2012.

I've read that MIDD accounts for 1% of all diabetics in the UK, that's at least 20000 people. Surely there must be more if us on these forums or more info on MIDD

Chris

 

[Brunneria]

Hi, I can't help you at all with your MIDD queries, but I can tell you how to tag people!

Type the @ sign, immediately followed by the name of the person you want to tag.
A drop down list will appear showing members with similar names.
When you see the right person, click on their name.
Their name will auto complete.
When you post your reply, their name will be a live link shown in red.

Hope that helps, @CeeJ

 

[CeeJ]

Brunneria, many thanks.

To everyone listed below I'm tagging you as having spent days trawling through the forums I believe you all either have or know about MIDD/mitochondrial diabetes and might be able to answer some of my questions (above), or at least we can start to form a MIDD community on this site.

@Sirzy @kesun @worcesterwoman @oldeboy @Ceesharp

Thanks

Chris

 

[kesun]

Brunneria, many thanks.

To everyone listed below I'm tagging you as having spent days trawling through the forums I believe you all either have or know about MIDD/mitochondrial diabetes and might be able to answer some of my questions (above), or at least we can start to form a MIDD community on this site.

@Sirzy @kesun @worcesterwoman @oldeboy @Ceesharp

Thanks

Chris

Hi Chris,

Actually, of all the diabetic diagnoses mitochondrial diabetes is the one I'd choose! Your consultant has probably explained that it's not the same as T1, where an auto-immune disease destroys the pancreas's ability to produce insulin, nor T2, which classically causes insulin resistance (you produce it but can't use it): we have an inability from birth to produce sufficient insulin, which worsens as we age. It is quite variable in how it manifests, but if you've got it now then you've had it since birth: that means it took 32 years even to get bad enough to raise your BG above normal levels.

I was a bit older than you - 39 - when I reached the same stage. 11 years later I'm still diet controlled and have no complications. There was a brief period when I followed an approved "diabetic diet" on medical advice and rapidly needed insulin, but since I switched to low-carb high-fat my daytime BG has been normal. My fasting BG remained a bit high (6.2 - 8) until a consultant told me mitochondrial diabetes often goes with a coenzyme Q10 deficiency. I now take 100mg a day and my fasting blood is normal too. However, it is creeping up, and chances are I'll have to go back on insulin one day.

Deafness isn't 100% certain - from memory it affects about 80% of people with MIDD. My mother developed tinnitus as an adult and has needed hearing aids from age 70. She has normal BG. My maternal uncle developed both high BG and hearing loss in his 60s. My grandmother's BG remained normal until her 90s, and her hearing is still good.

Something possibly to worry about: in my family's case, this syndrome is associated with stroke. However, we don't have the usual MIDD gene, nor the usual MELAS gene, so we're not typical.

Speaking of coenzyme Q10, if you find you're deficient you should seriously avoid statins: these block coQ10 uptake, so anyone with an underlying deficiency is likely to suffer harmful side-effects. My GP didn't know this, so I stopped taking them against medical advice after three horrible days; the endocrinologist said I'd done the right thing, and my file now notes that statins are contra-indicated.

I hope this helps. Do ask if you have more questions.

Kate

 

[CeeJ]

Hi Kate,

Thanks for getting back to me so quickly. I hope I do have similar progression to what you have described in your family.

My consultant didn't say what type of mutation caused my MIDD (I assumed 3243 as it's the most common - I will check) but he did say that typically patients with MIDD need to go onto insulin within 2-5 years. Having said that my mother was diet and metformin controlled for 19 years before insulin and that included two pregnancies that played havoc with her BG. I have been low carbing for 9 months and my last HBA1C was 36, but my fasting bloods are always a bit high (5-6). My uncle was in insulin from the start but that was in the late 60s so I expect he was on a traditional diabetes diet. I didn't explain fully above but he actually died of a stroke, we assumed brought on by a blot clot caused by a small heart attack he had a week before.

My mother was on metformin for 15 years without issues but since starting statins has had sporadic muscle pain in her legs, the Co Q10 link if definately worth investigating!

Do you know where the mutation that causes your MIDD is or what it is called.

I've also read that mitochondrial diabetes severity can depend on the percentage of mutant versus wild mitos, do you know anything about this? Could explain the differences in presentation in both of our families.

Thanks again for replying so quickly, it's good to know there are others out there with a similar condition. I was feeling a bit isolated.

Chris

 

[oldeboy]

Hi Chris

I just found your thread...

A lot of what has been said above is correct and useful info... We have all been born with a certain amount of mutant mitochondria which has been multiplying since birth. When that mutant mDNA gains a critical mass in a part of the body, that part begins to fail. Peak age for manifestation of the disease is mid 30s (I was diagnosed at 34).

MIDD is not an accurate name for the condition and I no longer use it. I've met people at clinic open days with neither diabetes and deafness and I myself also have osteoporosis and immune issues though the common denominator among all suffers seems to be fatigue.

I have three younger sisters and none of them are ill. The disease can manifest completely differently in close family depending on the amount of mutant mito in the body though apparently it is unusual, though not impossible, to develop symptoms outside of what your family has already experienced.

It is theoretically possible to increase the healthy mito in the body without the increasing the mutant mito by doing intensive exercise - the newcastle clinic designed a programme and I am starting it tomorrow. Exercise in general, whatever you can do though, is also helpful though be careful not to push yourself.

A lot has been written about mito but a lot of it is now out of date and/or wrong. There is still a lot we don't know about it.

As I think I've said in previous posts on this site Dr Brackenridge at Guys and St Thomas is the best mito diabetes consultant in London and her mito diabetes nurse julia kidd is good too.

There is a new drug coming out known as EPI-743 which from the presentations I've seen is kinda like a super charged co-q10 and has the mito community very excited. Early trials look very promising. More info is at http://www.mitoaction.org/epi743

You should get referred to one of three mito centres. London, oxford or newcastle. newcastle are the best IMO and they will see you wherever you live. But the best thing is they all have one day patient conferences each year and it is a good place to meet others in the same condition.

Otherwise the fb groups are where I spend my time. The mito uk group is a very good source of info https://www.facebook.com/groups/mitomattersuk/?ref=br_tf

It is a progressive condition but that is not absolutely certain. With me it progressed each time after a bad infection. Over a 5 year period I've had a couple of bad chest infections and several sinus infections. If you can, treat infections aggressively to stop the chance of progression. A lot of mito sufferers keep antibiotics at home for this purpose.

http://www.mitoaction.org is my favoured source for info. The americans have a more open view to different treatments than the UK does.

My historic posts on this site which I hope you can access also have a lot of info on them.

Best of luck!

Rich

 

[CeeJ]

Rich,

I've read your message in the conversation thread. I can't thank you enough for your help and the info you have provided, it has really perked me up and reading a bit about other mito diseases has made me realise that it could be a lot worse!

I will get referred ASAP to one of the mito centres, is it best to do this thought my diabetic consultant. I'll also speak to my GP about getting done anti-biotics.

It's great that exercise can slow progression, I go to the gym most days, can you send me details of the program newscaster have published please. I will start it this week too.

Out if interest what should I call the condition rather than MIDD? I see from your previous posts that your mutation is in the 3243 gene. How long have you been diagnosed? What are your symptoms and how do you treat them? Do you take Co Q10?

Let's definately stay in touch, if there is anything I can do to help you out in the huge way you have helped me, let me know (I'm doing a masters and although it's not medically related have online full access to most academic journals).

Thanks again,

Chris

 

[CeeJ]

Something else I have read which is potentially a bonus of having mito over other types of diabetes is that while mito complications can include kidney and eyes issues; they are caused by the mito rather than the diabetes. Evidence suggests that traditional diabetic complications are less frequent than in type 1 or 2. That certainly seems to be the case in my family, except for the heart attacks which were actually probably a result of the mito not the diabetes.

 

[Ceesharp]

HI
I have not used this forum much until now because there had not been anything much about MIDD. We are, after all, members of the 1%!
I was diagnosed as T2 in 1992 at age 38, the same year that MIDD was discovered. I progressed to insulin in 4 years, and subsequently to insulin and metformin. I had to stop the metformin eventually, because it was tying my stomach in knots, then a year later my son was tested for MODY and found it was MIDD, which he obviously inherited from me. Two of my four adult children have diabetes, and one had gestational diabetes, which so far has not returned. My two eldest children have had extreme muscle weakness and fatigue since childhood, which had been diagnosed as M.E. but is now thought more likely to be mitochondrial in origin. I developed weakness and pain in my legs about 2 years ago, and have progressive hearing loss. My youngest son has, as yet, no symptoms. Of my 5 siblings, two have diabetes and one has a confirmed diagnosis of MIDD. My mother, grandmother and at least 2 aunts had diabetes.

The MIDD diagnosis explains the erratic nature of my diabetes, which I have been told for years was my own fault for not keeping 'the rules'. Since stopping metformin I have to use massive an mounts of insulin (basal/bolus) in an attempt to control my sugars, which makes the random low-sugar days quite interesting!
I was referred to the Genetics service at Birmingham Women's Hospital, who confirmed the diagnosis, and thery referred me on to the clinic at Newcastle Victoria Infirmary, who lead the research into mitochondrial disease in the UK. They have done some more comprehensive testing (including TEN vials of blood from my arm!) but I do not yet know the results. I recently started taking Q10 but it doesn't seem to be having much effect yet.
Sorry for rambling on. It's good to make contact with others who actually know what mitochondrial diabetes is. (e.g. question: "Do you have type 1 or type 2?" answer: "Neither!")

Christine

 

[kesun]

Sorry for rambling on. It's good to make contact with others who actually know what mitochondrial diabetes is. (e.g. question: "Do you have type 1 or type 2?" answer: "Neither!")

Tell me about it! Retinal screening has me down as T2 because there isn't a box for "neither of the above", and "T2 is more likely than T1"!

Kate

 

[CeeJ]

Christine,

Do you know where the mutation is that is causing your MIDD? I've just found out today that I have the A3243G mutation. Apparently it is one of the more common mutations that cause mito disorders and can have a huge range if symptoms.

With regard to your experience of having to use large amounts of insulin since stopping metformin. I have read some articles in scientific journals that have said that generally mito disorder causes a reduction in insulin secretion, hence the dependence on insulin. However in rare cases there can also be increased insulin resistance (not sure what causes this). It might be worth mentioning this to your consultant to see if it's worth trying something other than meformin that will increase your sensitivity to insulin. It's just a thought and I have no medical training but you've got nothing to lose by suggesting it to your consultant.

Chris

 

[Ceesharp]

Hi Chris
Yes my mutation is A3243G, the usual one for MIDD. There is a drug called Dapaglaflozin which my son uses successfully, meaning that he no longer needs the bolus insulin, just the basal dose. Unfortunately the consequence of 20 years of erratic sugar control means that my kidney function is impaired so I can't use it. My consultant has advised me to do the best I can with insulin.

Christine