First Memories of Symptoms:
The earliest recollections I have of suffering the symptoms of what I now know to be called myotonia happened when I was around twelve years old. The situation in question is no doubt etched into my memory due to the embarrassment I felt at the time. During a PE lesson at school, my class were doing 100m sprints and I could feel that I was not going to be able to run properly, because I could feel that my legs were “stiff”. The result was that I pretended to slip as soon as the teacher shouted “go” and then feigned cool and disinterest as I walked the course, outwardly projecting that there was no longer any point in me running as the race was lost. With hindsight and the passing of time, I am able to look back at this experience and see how key components of it have traced a guiding line through my behaviour for most of my life, and that behaviour is directly linked to a disease that at that time I did not know I had, all I was aware of were the same considerations most young children are conscious of, to fit in, to have fun, to make friends so I inadvertently devised strategies to work around these physical impediments.
Diagnosis:
It was not until the age of thirty-seven that I was actually diagnosed with myotonia congenita, a disease characterised by prolonged muscle contractions and the inability for muscles to relax normally following contraction.
For me, my experience was that I felt stiff and until the condition began to worsen in my mid-thirties, I was not sure that there was anything wrong with me or that I was actually suffering from something markedly different from what other people experience and describe as stiffness.
The limitations of language:
This relates to the expression of the feeling, the limiting nature of the language available to describe our symptoms, everybody feels “stiff” from time to time. However, it is a subjective experience. You can relate to what I mean when I say that I feel stiff, but not having a better way of describing my symptoms made them mundane, banal and nothing out of the ordinary.
As I got older and became more self-aware, I wondered if what I felt was maybe an exaggerated version of delayed onset muscle soreness (DOMS) or if I should pay more attention to warming up and warming down around exercise or if changes in my diet could help. These are all things which could be considered, but none of them address the actual problem of having an undiagnosed disease with specific characteristics that go beyond the feeling of being stiff.
Family history and a familiar normality:
I am not the only person in my family to suffer from myotonia, my mother experienced it too. It is a genetic disease and in my case, has a 50% likelihood to be passed from parent to child. However, as my mother was never diagnosed it became a narrative in my family that I felt the same stiffness that my mother had, we could relate to certain situations where we would feel this stiffness and as such it seemed hereditary. My mother was never diagnosed with a medical problem and over time it seemed to have passed (this can be the case for women as the reach menopause) so it stood to reason that I had inherited a type of stiffness, but nothing worthy of medical examination.
Initial enquiries with a GP
I mentioned my symptoms to two different GPs in my early twenties. It was never the purpose of my visit, but an aside at the end of the consultation. I believe that this is telling and opens a window into the psychology of the condition, at least in my case. I had visited the GP for a separate reason, I would not have gone to discuss only my symptoms of stiffness. However, once in the presence of a medical figure in an environment of help and care, I twice mentioned my stiffness, evidently looking for help. It is true that perhaps I suppressed the full extent to which my life was physically and psychologically compromised by my inability to move fluidly and I see these two occasions as instances where I looked for help as inside me I knew that something was not right, even if on a more conscious, every day level I was trying to treat the situation as normal. This may be because of the difficulty in explaining the symptoms to others and as a result not getting supportive feedback that would encourage enquiry, but a lack of understanding which stunted further investigation and minimalised my symptoms.
In both cases I do not feel that I received suitable attention or treatment and this led to a strong feeling of resignation that other people could not understand what I was experiencing and was a highly negative factor which gave me the belief that there was no point in further consulting with doctors as they simply did not understand my situation. Place this experience in the context of symptoms that are easily minimalised by others, a sense that I should just “get on with it” and “stop complaining”, because once again, everybody feels “stiff”.
I again spoke to a doctor in my early thirties, in this case on an informal level. I described difficulties doing sport, as this was at the time where my greatest frustration with my condition was. He recommended the use of magnesium and potassium supplements, which would be a standard recommendation for fatigued, cramping muscles. This experience highlights once again the difficulty that I found in being able to accurately describe my experience, coupled with the irregularity of symptoms which never allowed me to show this person the experience first-hand. It also points to the lack of knowledge on the part of the doctor to enquire further into my difficulties.
By this point I was resigned to the fact that I had this intermittent, irregularly exhibited “stiffness”, that it was mine and a part of me. My mother had it, I have always had it and that was that, was the belief that I carried. It never occurred to me that the condition could get worse or be a symptom of something much more serious.
The start of a prolonged medical enquiry
In 2018 I changed doctor and as such I had a routine check-up with her. At the end of the consultation, as in the previous experiences highlighted above, she asked me if there was anything else she should know about and at this point I casually mentioned the stiffness I experienced. She took an immediate, active interest in what I told her and carried out a physical exam. Although the physical exam did not reveal anything abnormal, this was the first time someone had taken such an active interest in what I had told them about my symptoms and the experience was both encouraging and empowering. To receive a feeling of being understood and listened to on this occasion was very important to me. I was thirty-three years old at the time and I had become quite blasé about my symptoms, but the possibility of discovering if there really was something wrong with me or not was exciting.
In 2018 I did a series of blood tests and in 2019 I had a rheumatological examination, none of which returned anything out of the ordinary. At this point I was growing more convinced that there was no sense in continuing with these examinations, that it was just how I was, I had always been like that and there was no point in continuing with further investigations. At this juncture it was the determination of my GP and her conviction and encouragement that we needed to proceed that meant that I continued to eventually get a diagnosis. Her awareness that the symptoms that I described could be a manifestation of a serious disease and her understanding and support were vital factors in me pursuing medical examinations at that time. This truly underlines the crucial, fundamental role that a patient’s GP can have, both on a practical but also on a personal level to achieve the best outcome for their patients.
In 2020 I had a neurological examination and it was at this point that it was finally confirmed that my muscles exhibited a “hyper-activity”. This was an important development that would lead to further examination, but it was also significant psychologically. I was relieved to discover that all of my life I actually did have something wrong with me, that it had been identified as an abnormality. However, the next time that I felt “stiff” it was no longer registered mentally as the same familiar stiffness that I had always experienced, but as a reminder that there was actually something wrong with me.
A worsening of my symptoms:
It is difficult to pinpoint when the change occurred, but I believe it was around 2019 when my symptoms began to worsen. In the past, my myotonia had been predominantly experienced in my legs when getting up or climbing stairs or doing sport. However, it began to become more pronounced and to affect my entire body. My ankles, hips, torso, back, shoulders, facial muscles and tongue all became affected and with much stronger bouts of myotonia than I had experienced in the past.
Due to this and also the ongoing medical attention I was receiving, I started to pay more attention to my symptoms, trying to track them and to notice, where I could, patterns or factors which improved or worsened my symptoms.
Specialist examinations:
The Covid-19 pandemic slowed the process of receiving specialised examinations from neurologists following the initial discovery of the hyper-activity in my muscles. However, when this did happen from July 2021 to July 2022 it was an extremely emotionally difficult period. For the first time I was confronted with possible diseases that could be the underlying cause of my symptoms. I underwent genetic testing for Steinert’s disease type 1 and type 2 and had consultations with a geneticist who discussed the likelihood of passing whatever illness I had on to any children I may have in the future. It was a period that made me re-evaluate my life completely. The spectre of a degenerative condition and of not being able to have children naturally without the risk of passing on a debilitating, possibly fatal disease were things which I never imagined I would be confronted with.
I believe it is significant to keep into consideration when approaching a diagnosis that sufferers of myotonia may be quite well adjusted to their symptoms. This is not to say that they don’t have a significant impact on their lives, but that it is a situation that they are accustomed to, that they have devised strategies to live with, that was certainly the case for me, especially so prior to the worsening of my symptoms in my mid-thirties. As a consequence I feel that the news of some of the underlying diseases for which myotonia manifests as a symptom, are things which must be managed with the utmost care, consideration and attention from the medical staff who convey this news and order the genetic tests to discover the underlying cause of the myotonia, as some of the ramifications of diagnosis can be things that the person has never contemplated. I felt that I had lived with a type of “stiffness” all my life and if I could find out what caused it, that would be great, if not, it was something I had always lived with. This was the attitude I had towards diagnosis at the beginning of the examination process, instead I was confronted with the possibility of having a degenerative condition, the implications of which were things that I had never considered and had a significant impact on me during that period.
Arriving at a diagnosis
The genetic testing that I underwent to ascertain which disease I have began with the least rare of the rare diseases considered worthy of testing and then proceeded from there until a diagnosis was found. I feel very fortunate to have had access to the excellent doctors and facilities that I have had and the diagnosis has given me a completely different understanding of myself, allowed me to reflect on how I have been conditioned by having myotonia congenita, something which was impossible when I lived unaware of the condition, and has given me the possibility to receive treatment for my symptoms.
Thank you to all of the doctors and medical staff who have devoted not only their immense expertise, but their time to me and to helping me arrive at the point where I am today, it is something I will be forever grateful for and any words I write fail to express the depth of the gratitude I feel.
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