Living with Neuromyotonia by Stuart Flett

The symptoms of neuromyotonia are as follows; when I contract a muscle, for example by straightening my arm or leg, reaching across my chest to reach for my seat belt, or getting dressed and bending over to put on socks and shoes, the muscles are foreshortened and lock up. The affected muscle doesn't automatically relax and remains activated. If I don’t force the muscle to relax by stretching, it builds into a powerful and often painful cramp. Once I manage to get the muscle to relax, I experience a phenomenon known as myokymia. With myokymia, the muscles ripple and undulate which has the outward appearance of having worms crawling under the skin. It is often referred to as ‘continuous muscle fibre activity’. All of my muscle groups are affected, from my face to my feet. As a result, movement is challenging, tiring and painful. One of the most alarming features for onlookers is when my throat muscles clamp up; it stops me from talking, sometimes mid-word and I have the outward appearance of choking. I can deal with it by taking shallow controlled breaths until it passes. I also have the propensity to make a kissing shape with my lips and one cheek will lift giving the appearance of winking. It can get me in trouble with the ladies and can misconstrue things somewhat. I also have periods where swallowing is problematic. This is caused by my swallowing muscles going a bit haywire. 

Myokymia can also cause physical damage to the muscles, which was indicated in my blood tests by elevated creatine kinase. My kidneys have to clear out the damaged muscle from my system, and consequently I always feel washed out, akin to having a hangover. 

An 'upside' to the condition is that my muscles are much more defined and pronounced, caused by the continuous muscle fibre activity. It truly is continuous and persists during sleep. I also experience extreme night cramps and sweats. One of the dangers associated with neuromyotonia is that the unusual muscle behaviour persists during general anaesthesia. There is also a potential risk of a life-threatening reaction to anaesthesia called malignant hyperthermia, so special precautions should be taken when considering surgery. I wear a medical alert talisman in the event that I’m unable to communicate my condition. 

Neuromyotonia also means I’m unusually strong, without having to engage in any form of training. My consultant said “Well, you’re doing a workout just sitting in your chair”. When I was a teenager, I was accused of using anabolic steroids. Folk said that I couldn’t achieve that level of muscle size, definition and strength without engaging in weightlifting. 

I was first aware of unusual symptoms when I was about 7 years old. I started experiencing myokymia in my face, along with unusual facial muscle spasms. I was diagnosed with Bell’s Palsy at the time and underwent intensive facial physiotherapy. After a few weeks, things normalised and I didn’t give it any more thought. Could this have been the start of my neuromyotonia symptoms?

As I started to grow, my physique began to develop. At secondary school, I could climb the gym ropes hand over hand without using my legs. I thought that was how you were supposed to do it. It wasn’t until I watched the others really struggling, that I realised that I was somewhat different. I was experiencing bad muscle cramps but just tried to shake it off until they became so problematic that I had to consult my doctor. I was around 15 at the time. I wasn’t aware at the time that other family members had visited the same doctor with the same symptoms. The doctor had written in my notes “History of MND on father’s side. This is ridiculous, what is it with this family?” Perhaps if he’d considered that there was something genetic going on, things would have made more sense. 

I was subsequently referred to a university hospital that specialised in neurological conditions. They took muscle samples and subjected me to all kinds of tests and investigations. They had me up on stage in front of a load of medical students, having me parade up and down in my underpants, pointing out my unusual gait and drawing attention to my muscles with a pointy stick. They were using medical terminology that I didn’t understand. Upon being discharged I was prescribed with a powerful muscle relaxant and told to come back if things became unmanageable. I just got on with life.

In 1989 my dad, who is also an unusually powerful man, had been attacked at his home by 3 career criminals, intent on robbing him. To cut a long story short, they fled, bruised, bleeding and empty handed. A cousin remarked “Did they no ken that it’s no wise tae **** with a Flett?”. I was involved in the police investigation and found it very interesting. So, at the age of 24 I joined the police. 

I was enjoying an interesting career, managing to mask my symptoms to the best of my ability, then one day I was working with a doctor and he asked, “Do you have myotonia?”. I’d never heard the term before. He explained that he’d only seen one case in his career, and that was when he was studying medicine, when they’d presented a patient to the students to point out what to look for. He explained that my gait, the way I held my pen, along with my general physique were exactly the same as the subject they’d observed. He suggested that I ask my own doctor. I did just that, but my doctor stated “Oh, that’s really rare, you won’t have that” and sent me packing. 

One day while at work, I was restraining a rather large body builder and had to use all of my strength. This resulted in my pectoral muscles locking up and I was unable to let go of him. I was experiencing extreme pain in my pectoral muscles. With experiencing extreme 'chest pain', I was sent to the hospital to investigate coronary involvement. Once any coronary involvement had been ruled out, it left them scratching their heads a bit, so they called in a neurologist. There were many steps which I’ll skim over, involving MRI scans and lumbar punctures, but it ultimately resulted in a referral to the university hospital where I’d been seen 25 years earlier. 

I actually saw the same consultant, but he was now the professor. He remembered me and explained how they had suspected I had a genetic condition known as myotonia congenita. He explained that back in the 80s genetic testing wasn’t available for myotonia congenita, but he could tell just by looking at me that I had this condition. I remembered the police doctor asking me if I had myotonia and being dismissed by my own GP. I felt vindicated at that point. It’s an autosomal dominant inherited condition, passed down by one parent, with a 50/50 chance of an offspring inheriting the gene variant. He asked whether I’d be prepared to travel to London to see a particular professor who would be very interested in seeing me and would in turn conduct the genetic test to confirm myotonia congenita. I said yes, and he immediately picked up the phone and called his counterpart in London and said "I have a very interesting gentleman sitting in front of me who has the appearance of Arnold Schwarzenegger. I think he has myotonia congenita, can I send him down to you so you can apply your expertise?”

So that was me off to London. They conducted the gene test for myotonia congenita which to everyone’s surprise was negative. I had however piqued their interest, and they enrolled me in a research programme. I was subjected to a bunch of tests and investigations, one of which detected the unique signature of neuromyotonia. It is difficult to differentiate between myotonia congenita and neuromyotonia, so it’s quite understandable why they initially misdiagnosed me.

Neuromyotonia is an extremely rare condition which is normally autoimmune and acquired rather than hereditary. I was screened for all the known neuromyotonia antibodies, but the tests were all negative. As there were very few documented cases of the condition being inherited, and to date, the gene variant responsible hasn’t been identified, they were unable to conduct a specific gene test to confirm the diagnosis. 

I was placed under the care of a consultant who has a special interest in inherited neuromuscular disorders. Since then, they have cast a wide net and searched for variants in hundreds of genes known to cause any kind of neuromuscular disease using NHS 'gene panels’ but haven't found anything of significance. The consultant repeated the previous tests which had detected neuromyotonia and on several occasions detected “unequivocal neuromyotonia”. So, I definitely had neuromyotonia, but without the recognised autoimmune markers. That was certainly a challenge for the experts. She asked me to compile a family tree and was extremely interested to find that I had Orcadian heritage. Things got remarkably interesting from that point onwards. 

My dad, although he was unusually strong, had relatively mild cramps but pointed out that at the age of 12 he had been struck down with extreme body wide muscle cramps and hyperhidrosis which resulted in him being bedridden. He was diagnosed with rheumatic fever at the time, but tests later in life excluded that diagnosis. After over a year of being bedridden, he was nursed back to health by his parents. His dad had seen the same thing happen to one of his siblings at around the same age. She had suffered widespread cramps and sweating which progressed to muscle wasting. Sadly, at the age of 14 she died. At the time, her death was attributed to TB, but could this have been a misdiagnosis like my dad?

A number of paternal aunts, uncles and cousins have experienced unusual neuromuscular symptoms, particularly muscle cramps and unusual strength. Interestingly, my dad’s eldest sister wasn’t a Flett. She was born before my grandad met my grandmother, so was a half-sister to my dad. None of her children, or descendants have reported any neuromuscular symptoms. This helps the geneticists to establish that the gene variant has passed down through the Flett lineage. 

I went back a generation. My grandad from Flotta was struck down by a neuromuscular disorder and ended up being a wheelchair user. In addition to his sister who died young having been bedridden with muscle problems, two of his sisters had been diagnosed with motor neurone disease, and one sister was bedridden for decades with neuromuscular issues.

Then there’s his brother, William Arnot Flett. He emigrated to Australia, so we don’t know how he fared in his twilight years, although anecdotally he had Parkinson’s disease. He was however quite famous in Orkney, particularly among bagpipe players. He was a giant of a man with herculean strength; his party piece was lifting a plough over his head at his homestead on Flotta. He was a piper and joined up with the Seaforth Highlanders, subsequently going to fight in World War II. My grandad referred to him as “that great big clumsy gowk” due to his propensity to break unbreakable household objects. Interestingly both my daughter and I have the same trait. 

After the war, he continued as a piper with the Seaforth Highlanders. There is a famous pipe tune which is a staple for a marching pipe band. Readers will almost certainly have heard the tune. It’s called “Flett from Flotta”. The tune was composed as a tribute to William Arnot Flett and is written to emulate his unusual gait. Remember that the police doctor had identified myotonia in me by observing my unusual gait? Things were starting to make sense. 

I went back another couple of generations and gathered anecdotes. The family history is littered with tales of family members engaged in feats of superhuman strength, most notably my grandad’s grandad. He, along with 5 other family members had put to sea in an open boat to rescue the crew of a stricken steamer which had run aground on a neighbouring uninhabited Switha island. He was 60 years old at the time, but led the rescue, having to row several miles in a snowstorm to affect the rescue. The rescuers received a medal, presented in person by The King for their act of bravery and endurance. Again, I’ve learned that he was a very powerful and unusually strong individual. He lived to the age of 80 but spent the last decade of his life being immobile due to debilitating neuromuscular symptoms. His death was attributed to motor neurone disease. He was born in 1845. I have been unable to establish anything about the health of previous generations, but there have certainly been issues of neuromuscular disorders going as far back as 1845.

Once I’d managed to document things as far as I could, I presented my family history to my neuromuscular consultant. She was very interested, particularly in the cases of MND which had been documented. Neuromyotonia is actually classed a subcategory of MND but wasn’t fully documented until the mid-20th century. She pointed out that diagnosis was in its infancy back then, and there is every possibility that those family members who had been diagnosed with MND could possibly have been suffering from neuromyotonia. 

By this time, my daughter Chloe, who was in her early teens, began to display symptoms of neuromyotonia, but didn’t let on. She didn’t want to worry me. Then her boyfriend let it slip one day when he saw me struggling with a particularly debilitating muscle cramp. He said “Oh, that happens to Chloe too”.  So, the cat was out of the bag so to speak. 

Chloe set out with an intention to contribute to the solution and gained the necessary qualifications to gain a place at a Russell Group University to study medical biochemistry.  She subsequently gained a PhD with a focus on ovarian cancer and took up a position as a researcher at the very institute in London where I was diagnosed, having switched fields to neuromuscular disease.

During her PhD, keeping up to date with the latest ovarian cancer research, she saw a story on BBC news about the new BRCA1 variant discovered in Westray by Professor Jim Wilson and the Viking Genes team. After looking further into his work, she decided to reach out to him and offer our genomes to the Viking Genes programme, hinting at our muscle disease afflicting the Fletts from Flotta. It turned out that through the Viking Genes study, Jim had already gathered DNA from many of my Orcadian relatives, so had the foundation to expand the study into neuromyotonia. He is now collaborating with my neuromuscular professor in London. 

We travelled to Orkney to meet with Jim to discuss the way forward. Chloe and Jim were talking in scientific terminology that was alien to me, so I just nodded in what I thought were the appropriate places. We discussed which family members who weren’t currently in the study that we could recruit into the research. I felt useful again as that was something I could arrange. 

I’m a member of a support group for folk with neuromyotonia, and a common thread is the frustration expressed by group members at the apparent lack of research being conducted into this debilitating disorder. It has been encouraging to reassure group members that there is lot of research ongoing in the background. This has given hope for group members who are struggling to get a diagnosis. As a result, funds amounting to tens of thousands of pounds have been donated by group members to further the Viking Genes study, specifically in relation to inherited neuromyotonia.

It is an exceedingly difficult condition to diagnose, particularly the inherited version of neuromyotonia. Patients often have to undergo years of testing to exclude more sinister varieties of motor neurone disease, and other degenerative conditions. To be able to screen for a gene variant which makes people susceptible to developing neuromyotonia would be a game changer, giving individuals access to treatments much earlier and reducing the anxiety associated with the fear of having a neurodegenerative disease. Furthermore, it would identify their propensity to develop malignant hyperthermia during general anaesthesia. 

My family are firmly behind the research being undertaken by Professor Wilson and his team and are extremely grateful for the tireless work which is being undertaken. In 2026, Chloe was formally diagnosed with neuromyotonia.