A few years ago, when I was 65, I got sick. It was a mysterious condition, muscles tightening oddly in my face and jaw and later in my neck. It was scary and yet such things sometimes go with just stress. It might be nothing. But it was enormously painful, and embarrassing. I worried it was my fault, my flag to the world that I am weird.
Eventually through the great luck of a pharmacist suggesting I ask to see a movement disorder clinic, I got a diagnosis of what it really was – dystonia.
Good news. It was not “all in my head”. Bad news. It was not curable and might even get worse. I then did what most people do. I had never heard of it. so I scoured the Internet. I bought biographies, got textbooks, read websites and clinical studies. I took notes.
I respect the medical community’s standards, its tight research. how careful they are to protect us patients so any treatment they offer is well documented. But my research also showed the enormity of the problem and its mysteries.
Some people have the same muscle tightening as I have, but in the vocal cords and can barely talk above a whisper, Some have it in the hands, when a finger will not bend or cooperate and this is devastating for pianists, guitarists, typists, and anyone who uses a computer or has to sign a form. Some have it in the eyelid muscles, creating a condition where often their vision is fine but they are unable to open their eyes,.
Some people have it in the legs and can barely walk. A few had had this condition from birth. I was relieved it does not seem to affect the heart, lungs or lower life expectancy. But it sure does seem to cause problems.
What I noticed is that patients themselves often do not understand what is going on. There are several associations and support groups that offer a wonderful hand up of comfort but they do not do clinical research.
I found out when reading biographies and connecting with others that the experience is varied. Some have no pain and others are dealing with G force pressure pushing their body out of position ..Some have involuntary jerks and some do not. Some have tingling, some have spasms. The condition changes over the course of a day for some people. They themselves are mystified. Some have it in just one part of the body and others have it in two, or through much of the body. It is a condition with many faces.
To add to the complexity, for years there was no easy ‘proof’ of dystonia.. It does not show up on an X rays or blood tests or CAT scans. It was only in the last few months that researchers found MRI can sometimes detect dystonia.
https://hms.harvard.edu/news/detecting-dystonia
Research has also recently learned of genetic links to some forms of dystonia https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274927/
And yet even if we now can diagnose it better and know one possible factor for cause, that has not itself resolved mysteries of measuring it, treating it or cure.
I noticed that researchers themselves want more information. In clinical studies I read things like:
– Although risk factors have been identified, the causes of focal dystonia have yet to be determined
– It is not clear why some individuals who inherit a specific gene develop a severe form of dystonia while other who have inherited the same gene do not.
– The role of environmental factors causing or contributing to dystonia remains uncertain
– With hand dystonia it is still unclear where the pain is coming from.
– What goes wrong in the basal ganglia is unknown
– The prognosis of dystonia is difficult to predict
– Medications may ameliorate symptoms for spasmodic dysphonia but rarely have a significant effect
– Multiple surgical interventions have been performed, many of which have fallen out of favor
– The mechanism of action of deep brain stimulation in dystonia is poorly understood
So why is it that researchers do not know more about this condition? It has been around, from what I read, for centuries. Hippocrates wrote of stiff neck. Alexander the Great’s statues show him in odd dystonic like posture. A medieval scribe wrote of hand cramping in his profession. In the 1500s French writer Rabelais depicted a character with a twisted neck, that he labelled tortycolly (The current term is torticollis). In the 1800s Charles Dickens portrayed two characters who may have had dystonia – one with head tilted to one side and one who could barely speak above a whisper. In 1900, painter Modigliani painted portraits of his common law wife, in what seem to be not just dystonic head tilt but using a common gesture people use to deal with the pain- a finger to the cheek.
I discovered a few possible reasons that medical research has been slow. Besides the early mislabel that it was just due to anxiety, even today the way that research is done through clinical studies costs money. Researchers have to apply for a grant and then wait to see if this area interests funding organizations. Since dystonia is one of many incurable or hard to treat conditions, and is also quite rare, it is often last to get funding.
There has also been the problem of finding volunteers willing to participate in a study. Often it is hard to find patients who admit they have it, given the threat it may pose to career.
There are other challenges to research. Interviews take a lot of time. There are so many theories about dystonia’s causes: virus? environmental toxin? past infection? traumatic injury? past surgery? There is variation in treatments doctors give and also variations in patient experience with injections, pills, surgeries. There are varied experiences of how to deal with the pain – cold packs, heating pads, massages, how to hold the toothbrush or balance to dress. Researchers just do not have time to ask all those little questions.
I had an idea. Why not combine the mysteries patients experience and the ones researchers wonder about and create a database bridging that gap? The idea was actually hinted at from some research studies. Doctors want to know what patients are going through. I read things like:
– Studies require accurate and detailed evaluations of the past histories of large number of patients
-To objectively assess the response to various therapeutic interventions, it is critical not only to use appropriate rating scales, but also to take into account the intervention’s effects on activities of daily living and quality of life.
Why not create a series of detailed, anonymous surveys of all those little details and let patients say exactly how it really is for them? Why not have surveys that could be done online from the patient’s own home at their own convenience and anonymously?
Patients alone can’t see the patterns, but the surveys might. Patients don’t understand the significance of some movement oddities, but researchers would know what it means. Researchers might see, with the aggregated results, amazing things to spur on new clinical studies, lead to better treatments and ultimately cure.
It is a potential resource. The idea of patient input on a huge scale like this is just in its infancy but it is happening. The official medical community now admits that the patient experience is a vital part of input and has a label – “natural history”. Such patient input does not replace clinical studies. It just supplements them.
I approached some associations to do such a study and was sad to hear it was such a big project they were not interested right now. Well, what if we patients did it ourselves and just gave the data to the researchers on our own?
So, I set up a website with info about dystonia and an account with an online survey platform. I combined the mysteries from patients and researcher reports and made survey questions in categories, short enough optional surveys that people could do a few, skip a few, come back another day to finish, as they wished. Making sure it was at the highest possible privacy settings – anonymous – that it was clearly not a medical advice site, and that it was non commercial, asked for no money and promoted no service or product — it was the closest I could get to pure science.
And then I let others know of it:
In December 2020 we are at the 7-month point in this 12-month project. The website has had 11,567 pages views, from 76 countries. 1387 surveys have been completed.
It is heartening. I am getting great feedback from patients, grateful to be asked. I am getting encouragement from researchers who applaud the project, many of whom want to see its results.
The website seems to cheer people up. I have put on it pages from research about the history of the condition, incidence, types of it, medical terms used,, technology, Youtube links to inspiring people with the condition, even some funny quotes about how people cope.
This idea, of patients helping doctors, is not new. The Michael J. Fox Foundation is doing a similar patient survey for those with Parkinson’s disease.
Along the way I am deeply moved by the courage of people facing many hurdles. It is hard to get up every morning facing yet another day of this painful condition and yet there are millions of people doing just that, and people facing other huge challenges, often worse. The human spirit is amazing. Here are some quotes that keep me going:
Alone we can do little. Together we can do much – Helen Keller
None of us is as smart as all of us – Ken Blanchard
The only source of knowledge is experience – Albert Einstein
No one can whistle a symphony. It takes a whole orchestra – Luccock
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