I have Ehlers-Danlos Syndrome Hypermobility Type (hEDS), an inherited connective tissue disorder that leads to defects in a protein called collagen, which is the most common protein in our body. What my hEDS means in simple terms is that if my body were a building, it would be made of a defective construction material which happened to be the major material used in everything from walls to plumbing to columns to beams. So, the building would have both structural issues and functional issues, and so does my body.
Hypermobility of joints occurs due to laxity of joint ligaments that bind one bone to another, leading to more movement beyond the normal range and is not a disease per se. Joint hypermobility can exist in some or many joints of a normal person too. But it is a key feature of a number of diseases as well. Here, you can find a partial list of manifestations (direct symptoms and co-morbidities or condition that often co-exist, not necessarily with established causality) in hypermobility syndrome disorders (HSD) (hEDS is a part of the HSD spectrum). Writing about all the things this disease entails and how it affects me would take an epic-sized post, so today I am going to write just a little bit about my thoughts on my hEDS and a bit about one of the problems of my right hand, a key part of the body of right-handed folks.
Apart from chronic pain (which involves almost all my body), the number of individual problems/conditions/disorders that I have, exceed 30 (stopped counting a while ago). hEDS affects the functioning of all the external parts of my body, as well as all most of the internal organs and all of the organ systems in some way or the other. Not all of the conditions are at a peak all the time, but they mostly behave like a number of buoyant balls that I am trying to hold under the water simultaneously. Like I mentioned above, some of the conditions are a direct result of the primary disorder (established causality), others co-exist as separate disorders, of which many are reported to be associated with hEDS, called co-morbidities (I suppose the corrupt cement guy also inspired the plumber to cheat). In short, my body has a serious QC issue.
In my case, minor musculoskeletal (MSK) symptoms started when I was 6 years old (“Just growing pains, they will go away” kinds) and serious MSK symptoms causing recurrent, temporary disabilities and requiring bedrest and strong painkillers and muscle relaxants started when I was 17 years old (“Take painkillers and Exercise!”, I was told). The other multi-systemic problems (other than MSK issues) started when I was 9 years old. I got my diagnosis at 38 years of age, by which time, my life, body and mind were quite damaged, irreversibly, I felt. However, getting a diagnosis and knowing the demon I am fighting (and the fact that there is a demon) was a pivotal point in my life, that heralded the journey of my healing. There is no cure, so healing means putting back my life, my body and my mind together, and leading a happy and productive life, to the best of my ability.
Having had a poorly functioning body and a well-functioning mind since childhood, I got used to depending on my mental abilities for my recreation, career, livelihood and to a large degree, for my happiness. Reading and writing were such integral part of my life that as a child, I carried a notebook with me on travels with my parents. I could not imagine being in a place where I did not have access to writing. My childhood neighbors say that when I was a year old, I preferred scribbling in a notebook to playing with any toys or dolls. That is just one of the many peculiarities related to me since I have Asperger’s syndrome as well. I also depended on writing more than talking to my bench partner and my best friends during my teens to communicate due to verbalizing problems I had back then. I also have auditory processing disorder and therefore I like to type and chat rather than talk on phone calls where I cannot see the person’s facial/lip cues. Therefore, even though I suffer from many different kinds of disabilities, any loss of skills related to reading and writing is bound to hit me the hardest.
My thirties brought in such a severe phase of physical and cognitive decline that my speed reading ability deteriorated to me being actually unable to read and unable to understand what I read, for a decade. Apart from self-expression, I have also depended on writing for my secondary occupation after I gave up my primary career. I already had a number of problems in my right arm and hand (my dominant hand) like pain from chronic joint injury, tendinopathy, and ligament damage; neuralgic pain of unknown origin and ulnar nerve prolapse. So, when I developed focal dystonia of my right hand 5 years ago, I felt quite devastated.
Dystonia is a neurological movement disorder, characterized by abnormal twisting, postures or repetitive movements of body or body parts. These movements are caused by patterned, directional, and sustained muscle contractions of opposite muscles. Opposing muscles mean the pair or muscles where one movement is caused by contraction of one muscle and relaxation of the other muscle. For example, when we bend our elbows, the biceps contract but the triceps stay relaxed. When we unbend and straighten our elbows, the triceps contract and the biceps get relaxed.
The opposite muscles are not supposed to contract at the same time, and if they do, you would soon be sore. Therefore, these dystonic muscle contractions also lead to pain in many patients, including me. This is a picture of my beloved right hand, when the dystonia first started. It progressed to more twisting movements later, that would lead to spilling a cup of tea, for example.
There are many kinds of dystonia. The particular dystonia I have is what is known as focal task-specific dystonia of hand. It is also known as writer’s cramps, pianist’s cramps, typist’s cramps, etc., depending on the task that triggers it in a particular patient.
Here is a video of a person with writer’s cramps.
Although my twisting fasciculation/movements are brought on when I have been doing typing work for a few weeks, but once they come, they stay for months. The thumb and the index finger and their affected muscles right up to the forearm get very painful. I find my mind constantly focused on the twitchings and pain, making me unable to live normally. Although the jerks/spasms stop after a few weeks/ months of “abstinence” from typing (on mobile or computer) – the pain has more or less become constant, especially in the latter part of the day. So, writing this post took me 2 weeks, where as it would have taken me only 2 hours without this problem. And, as all chronic illness fighters will know, you can go out and “party” but there will always be punishment afterwards. I have to be prepared that my typing spree will lead to an exacerbation.
Though the textbooks on dystonia don’t mention it yet, recent research literature shows a few studies that suggest association of dystonia with EDS. That may affect the understanding of the pathophysiology (why’s and how’s) of the disease, but does not expand my treatment options. At present, my dystonia is relatively mild compared to many people who have severe dystonia and the pain though very distracting, is one of my lesser concerns. I do have problems with buttoning and gripping things, which is in part attributable to the dystonia and partly to the damaged finger joints I have from hEDS. Loss of power in hands mean that I also fail to open jars, tight bottle caps, etc., and find it impossible to do things that require more power in hands than a child has.
I do not want to lose the use of my right hand completely, so I try my best to keep the problem confined and contained by avoiding the trigger of typing and writing actions. Going analogue also helps me focus on other responsibilities and to be regular with my meditation. Since my work depends on writing, that aspect of my life has taken a big toll though. I am also trying to get used to putting my signature with my left hand, in case I lose the use of my right hand at a crucial time. Using the other hand often leads to spread of the dystonia to the other hand as well. And there are no good treatment options for dystonia that are suitable for me. If things get worse, I will have to resort to botox injections in the muscles, but that is a treatment whose effect lasts only 3 months (at the most), leads to variable results and side effects like further loss of power and fine motor control. I will discuss the ways I try to cope with typing on the computer and mobile, which is an important activity of our daily lives, in my next post.
If you are interested to know more about dystonia, how it affects a person, and the treatment options, you would find these resources interesting:
I. Medical Books:
- Clinical diagnosis and management of dystonia. Warner, Thomas T., and Susan B. Bressman, eds. CRC Press, 2007.
- Dystonia and Dystonic Syndromes. Kanovsky, Petr, Kailash P. Bhatia, and Raymond L. Rosales, eds. Springer Vienna, 2015.
II. Absolutely Must-Read: Personal Journey Book
- Diagnosis Dystonia: Navigating the Journey by Tom Seaman. (Available for borrowing for free if you have Amazon Prime)
I recommend this book to everyone, not just people living with dystonia, but also people living with any chronic illness and their caregivers, healthcare providers, family and friends. This book is a truly balanced and genuine endeavor at narrating what this disease entails, as well an immensely useful and easy-to-understand content on management options. It is impossible to not gain something from this book. It is an inspiring and hope-instilling story of the journey of dystonia as well as a source of practical wisdom that is invaluable for dealing with any chronic illness. The writer, Tom Seaman describes dystonia in short here.
III. Journal Articles on Task-Specific Dystonias
- Torres‐Russotto, Diego, and Joel S. Perlmutter. “Task‐specific Dystonias.” Annals of the New York Academy of Sciences1142.1 (2008): 179-199. (Link)
- Stahl, Christine M., and Steven J. Frucht. “Focal task specific dystonia: a review and update.” Journal of neurology 264.7 (2017): 1536-1541. (Link)
- Sadnicka, Anna, et al. “Task-specific dystonia: pathophysiology and management.” J Neurol Neurosurg Psychiatry (2016): 0:1–7 (Link).
IV. Journal Article on Association of Dystonia with EDS
- Hamonet C, Ducret L, Marié-Tanay C, Brock I. Dystonia in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type). SOJ Neurol 3(1), 1-3. 2016. [Link]
- Henderson, Fraser C., et al. “Neurological and spinal manifestations of the Ehlers–Danlos syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Vol. 175. No. 1. 2017. [Link]
- Chopra, Pradeep, et al. “Pain management in the Ehlers–Danlos syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 212-219. 2017. [Link]