All Change: A New Diagnosis

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I have been sick for at least 13 years, with some symptoms going back into my childhood. At first I was told I had Post Viral Fatigue Syndrome, then later Myalgic Encephalomyelitis. (ME.) ME is also referred to as Chronic Fatigue Syndrome, (CFS) although this is controversial as chronic fatigue is often a symptom of other illness. ME/CFS is a diagnosis of exclusion. That is, there is no  known cause or definitive test for it and when every other possibility is excluded the symptoms get labelled as ME. I have often wished that I had any other disease – something with a known cause, where it is not so easy for people to label you a fake or a lazy scrounger. This wish got even more intense when I went to see a psychiatrist after becoming suicidal with pain. His response was to ignore my depression and suicidal ideation and instead “diagnose” me with Chronic Fatigue Syndrome, which from his point of view is a mental illness, and prescribe exercise as the cure to all my problems.

Then four years ago I became diabetic too. It wasn’t unexpected given my family history and I adapted to it pretty easily, although I resented having to change what I eat. Since I was diagnosed my diabetes has progressed rapidly and a few weeks ago I went to see a specialist because despite insulin treatment I was responding unpredictably and finding it hard to control my blood glucose. He suspected that I had a form of diabetes called MODY and had some blood samples taken for a genetic test.

On Friday I got the results of that test back and everything changed.
I don’t have MODY, I have Maternally Inherited Diabetes and Deafness. (MIDD.) It’s caused by a mutation in mitochondrial DNA (3243 tRNA), specifically 3243A>G.

I spoke to the diabetes consultant this morning and he confirmed that what I have is the mitochondrial 3243 A>G mutation. Unfortunately he is a bit clueless about the impact of that mutation outside of diabetes and he dismissed my questions about muscle pain and weakness and about issues with taking metformin. When I first saw him I had asked if my diabetes could be the cause of the muscle pain and burning pain that I have had for years, but he was adamant that it could not be, especially since I have been diagnosed with ME for much longer than I have had diabetes. He said that he had a couple of other patients with MIDD and they had no pain so that was that.

Apart from diabetes and deafness (The deafness part is only about 75% of cases) MIDD is associated with some other symptoms. From the information sheet at the Diabetes Genes website:

Myopathy (Muscle weakness): muscle problems of either weakness or cramps may be present in around 40% of cases of MIDD.  This generally involves proximal muscles (shoulders, buttocks and thighs) which are used when climbing stairs and presents as exercise induced muscle cramps or weakness.

 And

Metformin, a commonly used treatment in diabetes is probably best avoided as Metformin is known to interfere with mitochondrial function and the risk of lactic acidosis may be increased although this has not been reported to date.

From looking at what other people with this condition have said the pain and weakness is rather understated in the above quote. The following is typical of what is actually reported.

I’ve been feeling so, so tired recently with aching legs, and I can barely get out of bed and get dressed some days, most of the time I just want to lie on the sofa and sleep. I knew MIDD could make you tired after exercise, but I didn’t realise it could make you so fatigued after not doing anything at all!

Turning to The NHS Rare Mitochondrial Disease Service for more information I found this under General Information > Exercise

Because in mitochondrial disease the cells cannot make ATP in sufficient quantity, anything that requires a lot of ATP such as exercising a muscle will mean that the body will not be able to keep up with demand. This has two main effects; firstly the muscle will become tired sooner than normal and secondly the muscle makes other compounds such as lactic acid in an attempt to keep up with energy demand. This can lead to pain and cramp in the muscles and patients often feel “like they have run a marathon” even after only moderate exercise. The temptation is to avoid all exercise so that you never get to this stage, but this is not recommended for two reasons. Firstly, it is important for general fitness to exercise and as well as exercising the muscles it is important to keep the heart and circulation healthy. Secondly, there is good evidence that if you become very unfit this will adversely affect your muscles. In many patients’ muscles there is a mixture of good and bad mitochondria and the hope is that exercise can increase the good mitochondria, boosting the level of ATP back to normal and so avoiding symptoms. At this stage this remains just a theory and there are large trials looking in to this idea. At the present time our advice is to exercise regularly at a level that feels comfortable, but without pushing yourself to the point that your muscles become painful.

But that’s not all. The Rare Mitochondrial Disease Service has another perspective on the 3243A>G mutation. It is responsible for a condition called Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS). And it’s scaring the shit out of me.

The clinical features associated with this mutation can, as stated above, be very variable. We have a number of individuals who clearly carry the mutation who are completely asymptomatic. Other patients have very, very mild symptoms perhaps with a tendency to have diabetes or very mild deafness requiring no treatment. These patients might not be aware that they had the mutation apart from the fact that they were family members of somebody who had more serious disease. Some people with the 3243A>G mutation, also develop diabetes and deafness ultimately requiring the use of a hearing aid or requiring insulin to control their diabetes. Other patients have more severe involvement with muscle weakness sometimes affecting the peripheral muscles and sometimes affecting the muscles around the eyes. Finally there is a group of patients who do develop the MELAS syndrome, which is associated with episodes of encephalopathy . Encephalopathy is really the medical term for an episode that disturbs brain function. These disturbances can take the form of stroke- like episodes and/or seizures. This is a much more troublesome and difficult group of symptoms to control and clearly have a significant effect on people’s lifestyle.

My next step is to see my GP to talk about what all of this means for me and I will ask for a referral to the mitochondrial disease service. Unfortunately my GP is away this week so I will have to wait before I can sort anything out.
I thought finding proof of what is wrong with me would be a relief, but it’s not. Acceptance of my old diagnosis has given way to panic about my new one. All I have is questions swirling round and round in my head. The thought that keeps hitting me is that I wasn’t making this up. I wasn’t imagining it. People have been throwing out accusations and belittling my illness for so long that I had almost convinced myself I was a lazy fake, questioning if symptoms were real or just my brain tricking me. And now I know I’m not imagining it. There’s proof, right there on paper, but I almost don’t believe it. I want to feel relief but all I feel is grief.
  • Ms. Rants

    Congratulations and condolences. I remember the first time I got real test results. It was such a relief to have PROOF that it wasn’t all in my head, but at the same time I had to deal with the new diagnosis. It’s difficult and scary, but doable. You’ll get there, just give yourself time. You didn’t originally come to accept your symptoms overnight and you won’t accept this overnight either, but you’ll get there. Good luck! And I hope this leads to better treatment opportunities!

  • Belle Roche

    I wish you well. I won’t pretend I know how you feel because I haven’t had to deal with anything like you have but I’ve learned a little from having people close to me do so. I hope when you see your GP there’s a quick referral and that seeing a specialist can provide some reassurance. You’ve described the worse-case scenario amongst others, so I hope you’re one of the ones for whom there are better treatment options and outcomes. But if the worst happens you’ve shown before how you can cope with the challenges life throws at you; I hope you can find the strength and support to do so again. Whatever happens I hope you keep writing; you write well and with honesty, your voice needs to be heard.

  • lisybabe

    Congrats! It’s always such a relief to be able to say “I have test results that prove it isn’t all in my head.” Even if sometimes the diagnosis isn’t what you expect and it takes a while to get your head around….

  • Mistynow

    What a relief or you !!!! An accurate diagnosis after all these years.

    May I suggest that you google Prof. M.G. Hanna at NHNN who runs the Mitochondrial Clinic services on behalf of the National Commissioning Group, He has a wonderful team of Consultants from all specialties who deal with all aspects of Mito. and the service is not chargeable to your G.P. or local NHS , a rare bonus in these days.

    Also the Muscular Dystrophy UK group has info. on Mito. with mito. patients on their forum.

    May bring a smile to your face to know that the DWP/Atos do not have info. on Mitochondrial diseases apart from LHON as i discovered after doing a FOI,

    Keep your chin up, Knowledge is power now and as a recognised Mito. the support services should improve dramatically e.g. wheelchairs etc

  • Jenelle Dorner

    It is daunting to receive the diagnosis of mitochondrial disease. For me it was quite a relief after many many years accumulating multiple diagnoses. ME/CFS is the most common misdiagnosis of mitochondrial diseases.

    • Trialia

      Jenelle, there are many people with ME/CFS and fibromyalgia who have Ehlers-Danlos syndrome as a primary, too. A recent study found that 95% of people with HMS/EDS spent 5 years and more misdiagnosed or undiagnosed and symptomatic. If only we could raise awareness in the medical profession of both EDS & mito conditions, what a change that would make to the diagnostic landscape!

  • Trialia

    *hugs tight* I can’t say I know exactly how you feel as this is not the condition I have, but I can say I’m pretty sure I understand it. What you say about your current mental state sounds very like how I felt when I was diagnosed with hypermobility syndrome and did enough research on it and my own symptoms to be certain I had full-blown Ehlers-Danlos 3 years before I had that dx on paper. It can be a damn scary thing to have – the risk of retinal detachment, for someone who reads as much as I do, and the additional fun of dysautonomia/POTS and the heart problems that accompany that (just formally dx with that on top a week ago)… it can all be VERY frightening to discover. *hugs you much more*

    But think about this, or try: now you have the right answers. Doctors and the DWP *cannot* dismiss a condition this serious and complex, so that’s some reduction to the stress level you will have to endure; also, unlike CFS, now *you know what’s coming* – or you will at least have some idea, more predictability in the course of your disease.

    Those things may not sound a lot with how you feel right now, but when you’re a bit less panicky, they will help. Promise. *hugs again* And you know all your fellow spoonies are here for you as much as we can be.

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