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This isn’t your typical Leigh Syndrome story but the lack of clarity will probably feel familiar. Why isn’t this a typical Leigh Syndrome story? I am 37 and my first symptom, dystonic movement in my left limbs started when I was 12. It was inconvenient but I could manage it with the gym and physio. At the time, the most annoying part, I was the “rare” left-hander (“rare” is a theme for this story), so I had to learn to write with my right hand.

This was the late 90’s, doctors had no idea what was going on but after being passed around I was eventually diagnosed with “Delayed Onset Dystonia”, and that was it, for years. The muscles slowly tightened but I was a “normal” independent teen, school, college, friends and work. Music has consumed my life since my teens, as in, I was obsessed with it…I would see my neurology consultant every year, he would ask the same questions, I would say I was “fine”, because I was, and it was left like that until I moved to London for uni. I
started going to The National (a hospital specializing in neurologic disorders) who started investigating me. My speech started to change around this time too, I had speech therapy, but it couldn’t have been that bad, I worked in a loud bar.

After having a muscle biopsy I was diagnosed with Mitochondrial Disease in 2010, I don’t remember being given any further information about Mito, I wasn’t really interested, I was in my early 20’s living my independent life, but they probably didn’t know anything then. Last
week, after years of being told I have “Mitochondrial Disease, a rare, complex condition” I was told that I have Leigh Syndrome but to find that out, I had to educate myself, to know the questions to ask… Doctors seem reluctant to give details if they don’t have to.

Throughout my 20’s and early 30’s my symptoms continued to progress slowly. I have learned my boundaries and triggers, and dealt with the side effects of living with a physical disability, depression and anxiety but I have “lived” (sometimes pushing my boundaries).
After overly relying on my right side for years, the signs of wear and tear showed in early 2022 when a pain went through my right leg with every step. That pain seemed to ease after a couple of months, then my lower back started to hurt, I have been used to pain since my teens, I just got on with it.

In June, a different pain ran from my lower back, through my red leg sending me to the floor. For a month this pain worsened to the point where I needed codeine to move and I kept falling down, not forward, straight down, as if my brain forget I had a right leg (and, after years of relying on my right leg, I had to mentally switch to relying on my left leg). 2 doctors dismissed it as “sciatica”, I was told to “stay active”, I could barely move. After weeks of asking my consultant for a MRI scan they finally did, leading to surgery. Removing a disc from the back is pretty routine, people rarely stay in hospital more than a couple of days, not me, I spent 5 weeks there. The doctors hailed the surgery as a success, and sure, the pain left but I lost the feeling in my feet, I could barely move my legs and a physio told me I might not walk again. There was no way I would have leave hospital without the surgery, it hurt too much but I didn’t expect I would have to relearn to walk again. I left hospital with a crutch, which I needed for 5 months.

I was counting down the days to 2023, a new year, new start after the second half of 2022 had been wrote off but I never heard “Happy New Year”. Music has been more than a “hobby”, I was in the 2% most listeners on Spotify and I have going to multiple gigs a week
for 20 years, I have never had hearing issues.

In mid-December I heard a tapping in one ear, I immediately thought it was tinnitus, I had expected it, I have exposed my ears to loud noises for years. My dystonia symptoms slowly progressed and my speech gradually worsened but I went from perfect hearing to deafness in a couple of weeks. This puzzled 3 doctors at my local GP, the ear specialists in hospital didn’t get it either and, when I told my Mitochondrial Disease consultant (who I have seen for 20 years), he said “I’m sorry to hear that”, and moved on, no further questions. He definitely didn’t think it was linked to Mito, neither did I, the speed of its progression didn’t match up. My hearing tests were giving inconsistent results, after a MRI scan my Mito consultant said there was “complex” and “unusual” activity in my brain, he had to seek advice from others, who suggested I might have had a seizure. My deaf “experience” hasn’t been quiet, especially for the first 6 - 9 months, I hear indescribable “background noise” when I am sat in silent rooms, sometimes my brain plays music too. The experience has changed, I started hearing textured noise, I can clearly hear my fingers tap on my keyboard, I can hear quiet footsteps and recently, I have started hearing words, but I can’t understand them.

Losing my hearing has been a life-changing, my life has been based around music, I wasn’t offered any support, there was a lack of urgency to find any answers from my Mito consultant and his response to my questions were usually “I don’t know”. I have seen 3 more
Mito specialists in different hospitalists in the UK who haven’t necessarily had answers either, but some have been more proactive than others. At the minute, we are running with the theory that I had a stroke, and my brain is slowly recovering.

Deafness isn’t unusual in Mitochondrial Disease so I was confused why specialists were reacting as if I was the only one. To find out more I started Mito and Matt to share my Mito experience and researched what Mitochondrial Disease actually is. The
only thing I have been told by health professionals was that it is “rare and complex”, I had been under the impression that it one condition, not an umbrella term, “m.3697G>A mutation” has been on my medical notes since 2010, I just thought it was doctor language that I shouldn’t need to understand.

I shouldn’t need to educate myself, consultants should have informed me, in accessible language but I get the feeling that they don’t want me to ask questions. I have read about the different Mitochondrial Disease to find one that matches my symptoms but I couldn’t find one, I dismissed Leigh Syndrome because of my age.

With my research I had the knowledge to know what questions to ask last week when I met another Mito specialist for the first time. This was when I learnt my Mito was Leigh Syndrome, yes, I am one of the rare adults with it. Then I asked how commonm.3697G>A mutation is in the UK, he responded with “we know people in the world diagnosed with it”, so yes, rare again, then “have these suddenly lost their hearing?”, yes, it seems like I’m a rarity here too. Oh, and my Mito wasn’t inherited, it was sporadic… I wasn’t lying about this being
a “typical” story, and because of these unique factors, everything is going to be guess work. I have started to educate myself about Leigh Syndrome, but I struggle to relate most of the stories, I can’t get my head around them, they are too sad. I know my experience and calling it “Delayed Onset Dystonia”, “Mitochondrial Disease” or “Leigh Syndrome” doesn’t really change anything, but I feel like I am a step closer further to understanding what is going on in my brain.

Read Matt's full story here 
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