All Change: A New Diagnosis

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.

Diabetes

I was told that I had diabetes on the day before my 30th birthday. I wasn’t obese, and there wasn’t much that I could have done to avoid it. In fact given my family history, I pretty much expected to get Diabetes one day. I just thought it would be at least another ten years further down the line.

The doctor that diagnosed me also reassured me that with modern treatments I could still expect a reasonable life span, and I would not have to go on a diet of pure lettuce in order to survive. The other medical staff that treated me said much the same. Unfortunately no one told the diabetes that. This disease is not sticking to the plan.

My cholesterol was already below average, at 4. (The target for a healthy person is below 5.)  The first change I made was to my diet. My new diet did reduce my average blood glucose (HbA1c) down to about 10. The target for this is 7, though, and so I started taking Metformin. Metformin is like the wonder drug of diabetes. Someone taking Metformin can expect to extend their expected lifetime by as much as fifteen years, and as such it is now given to nearly everyone with diabetes.

At first a 500mg dose of Metformin got my blood glucose back in the desired range of 4 – 7 mmol/l and my HbA1c back to 7.1. After a few months it had all crept back up, and my dose was increased to 1g per day. That kept is down for a little while longer, and then my blood glucose went back up again and my dose was increased to the maximum of 2 grams per day. My next checkup found my HbA1c to be around 8 and so I was given Gliclazide in addition to the Metformin. 40mg per day seemed to be very effective – too effective, in fact, and I had several hypos. (Hypoglaecemia, where the blood glucose drops below 4mmol/l and results in shaking, dizziness, even fainting and coma.) Despite the hypos, my HbA1c was STILL not below 8 so I ended up increasing that to 80mg per day.

I have been ill in bed through most of December and all of the time from January onwards with fatigue and pain from what is probably an M.E. relapse. In that time whenever I have checked my blood glucose I have found it to be up near 10 – 15 mmol/l which is very bad. My GP put it down to me being immobile and prescribed an increase in my Gliclazide dose to 120mg per day. In the few weeks that I have been taking that dose, I have rarely measured less than 10 mmol/l.

During that time in bed I have been in intense pain on a whole new level from my previous aching caused by the M.E. The pain seems to be neuropathic in nature, with lots of burning sensations and stabbing pain in addition to the aching that I have had for years. There are several potential causes of this, with one suspect being fybromyalgia, which often accompanies M.E. Another possiblity is diabetic neuropathy which is caused by deterioration of the nerves as a result of high blood sugar but my doctor did not think this likely as I have only had diabetes for 30 months. I am undergoing lots of blood tests to try and get a diagnosis.

Then today I got a letter that I really didn’t want to get. At my recent diabetic retinopathy screening, background retinopathy was found in my right eye. Retinopathy is basically damage to the blood vessels in the back of the eye caused by prolonged high blood sugar levels. It eventually causes blindness. Nobody would expect to get diabetic retinopathy until they have had diabetes – and uncontrolled hyperglycaemia – for many years. It seems that I am already starting to be effected. The level I have at the moment does not receive any extra treatment but it must be monitored closely in case it deteriorates further.

So there we have it. I have had diabetes for a mere two and a half years, at least ten years earlier than anyone expected, and I have already exhausted the possibilities of two medicines used to treat it, am already getting eye problems, and I have a crippling pain that is potentially caused by the diabetes too. This is progressing at a staggeringly fast rate. If it carries on then I will soon be injecting insulin, may well go blind within a few years, and could well have neuropathic pain for the rest of my life.

I am crying as I write this. I’m scared. Very scared. I want to live to see forty.

What’s wrong with me?

I’m ill. I suffer from several serious diseases. As such it shapes my life, and affects everything that I do and say. When I am talking to someone, sooner or later my illness comes up when I have to explain why my life is a certain way or why I cannot do something. Many of those people ask what is wrong with me, and since it is very hard to explain it every time especially on twitter, I have explained it here for future reference.

So here’s the official list of diagnosis.

I’ve had the migraines all my life. I get between one and four a week. The main trigger is fatigue, other triggers are red wine and some blue cheese. I get migraines with pain over the right eye, pressure throughout the head, tension in the neck, and aura including nausea, vomiting and bright flashing lights in my vision. I treat the migraines with Sumatriptan (Imigran) nasal spray which is fast and effective at stopping them.

I was diagnosed with Diabetes the day before my 30th birthday. Given my family history I had fully expected to become a diabetic one day but I had expected it to be at least another ten years away. I control my diabetes with tablets, but it is progressing absurdly quickly and so I may well be given insulin injections soon. Note to detractors and “it’s your own fault” idiots: I am not obese.

Restless legs is fairly common, affecting 1 in 12 people. I have extreme restless legs. It makes me move, twitch, stretch and convulse any time I am required to keep still, especially when trying to sleep or in a car. Combined with ME and an inability to move sometimes, it’s torture. It is a major cause of insomnia for me so that I am now afraid to even try to sleep. I treat it with Pramipexole which is a dopamine agonist aimed at parkinsons disease. It makes me feel horrible and sick, but if I don’t take it, my legs try to rip themselves off of my body.

Insomnia is an obvious one really. I don’t sleep when I should. It is quite debilitating in its own right since going to sleep at 6am makes it nearly impossible for me to get up and do anything at 8 or 9am. It is fueled by a natural obsessiveness in me that won’t give up on whatever I am doing just for sleep, but also by my Restless Legs and by an inability to switch my mind off and stop thinking, which is a common problem in those with ME.

I have had ME/CFS for 10 years now. Many people get ME after a viral infection such as flu. They simply never recover from it. I first got sick after being in bed for a week with flu. After the flu seemed to be clearing up, the exhaustion, the headaches and the muscle pain stayed on. Those are the primary symptoms of ME.

When I talk about chronic fatigue the words really don’t cover the reality of it. People use words like tired, exhausted, and fatigue all the time but they have no clue what it really means. When I say I am too tired to get out of bed it’s not hyperbole. I mean it. When I am that tired I can’t get the five metres from the bed to the toilet. When I am at my worst I cannot lift my head from the pillow or turn myself over in bed. If you have ever experienced sleep paralysis then imagine it continuing for hours. For the really unlucky ones it continues forever. One of the most frustrating things that people can say to me apart from “Have you tried…” is “oh, yes, I’m quite tired after work too.” I want to scream at them. You just have no clue!

The fatigue is not logical either. It starts about as low as energy levels can get so that every action is an extra effort. That effort must be gauged incredible carefully. Each action results in a bit more fatigue and in a bit more pain. Where most people could perform a physically demanding task for a day and then be refreshed by one nights sleep or perhaps a day off, when you have ME the refreshment doesn’t happen. A few minutes of extra effort can result in days of exhaustion and pain. Sleep can make things feel worse. The best analogy I can think of is that every bit of energy used must be borrowed from a loan shark. He isn’t forgiving. That energy will be demanded back the next day with menaces, and whatever you pay won’t be enough. The loan shark will be back again for more.

Other symptoms are many and varied. I have already mentioned fatigue, headaches and muscle aches. i also have burning pain in various muscles, brain fog, irritable bowel syndrome, problems with vision which appear when most tired, and more that I can’t remember.

Brain fog is worth explaining. Once again words are inadequate but it is often described as a head full of cotton wool or as thinking through treacle. Brain fog prevents me from remembering words that I need, from completing thoughts in my head, from finishing sentences that I am speaking. It’s frightening and horrible because it strikes at my own sense of self.  It is brain fog that can prevent me from speaking at all on some day

For me, my illness varies a lot. I tend to have cycles of relatively good (~80%) health and then relapse for a few weeks of months where things get bad. I had flu, the real deal, not once but twice in the last few weeks. Since then my health has gone steadily downhill and I am now in a complete state of relapse. I have barely been able to leave my bed for the last few days and have been in a lot of pain with burning sensations in my muscles. I would say that i have rarely been as ill as this in the past.

I wrote about how ME affects me every time I wake up in my article A morning with ME.

For a full understanding of how chronic illness affects me I recommend reading Spoon Theory by Christine Miserandino or watch the video below to see Christine reading Spoon Theory to a conference. This is the origin of the #spoonie tag that you may have seen me use on Twitter.

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