21 Feb Steph’s story: Living with Dystonia & Participating in Research
Dystonia is a neurological movement disorder that causes muscles in the body to contract or spasm involuntarily. The involuntary muscle contractions cause twisting, repetitive and patterned movements as well as abnormal postures.
There are many different types of dystonia and it can affect almost any part of the body. Focal dystonias are a subgroup of dystonia where the abnormal movements are isolated to a single body part. In the upper limb, these are referred to as focal hand dystonia and are commonly task-specific, triggered by a particular motor task (such as ‘writer’s cramp’ or ‘musicians’ dystonia’).
Steph Judd has focal hand dystonia, which she has lived with for nearly twenty years. Recently, she participated in a clinical trial for a new dystonia treatment, which was supported by the Brain Foundation. She spoke to us about her experience with dystonia, and what it was like to participate in research.
Brain Foundation: Can you tell us a bit about your experience with dystonia?
Steph Judd: I first developed symptoms of dystonia as a 15 year old. I played a lot of oboe and clarinet, and I noticed that the dexterity of the fingers on my right hand was not the same. The symptoms spread from my hand to my shoulder to my foot. It started as activity induced dystonia, but soon it settled in as a constant feature of my life. At first they thought it was juvenile Parkinson’s Disease, but once they ruled that out (a year later), the doctors thought that it was psychogenic dystonia (no longer the position of my specialists). That was about 19 years ago! So I’ve taught myself to do everything one-handed – writing, typing, texting, shaking hands… I have had significant muscle atrophying over that time.
BF: How has dystonia affected your life?
SJ: Profoundly. I can no longer play musical instruments. Drawing and writing and playing sport is more difficult, and over the last few years I have found running and walking more painful. It’s affected every area of my life.
BF: How have you managed these impacts and/or changes?
SJ: One of the good things about dystonia is that it has made me more mindful of and attentive to the limits of my body. I have slowly been learning that listening to the needs of your body isn’t something to be despised but parameters to work within. Sleep and rest aren’t inconveniences but are good things. I listen to my central nervous system more: whether it be by getting massage therapy or magnesium floats, seeing an osteo or an acupuncturist.
BF: You recently participated in a clinical trial led by Dr Joel Maamary. Can you tell us how you discovered this trial, and what your experience was with this new treatment?
SJ: My mum saw the story on ABC’s 7.30! So I then emailed the hospital. Joel responded, telling me that he didn’t have a spot on the trial but he’d let me know if that changed. A place freed up, and so we had a call, in which he explained to me the details of the procedure. Joel has been extremely responsive all the way through, and continues to be.
My experience of this new treatment was positive. All my interactions with the neurologists and neurosurgeons were positive. They all were interested in me as a person; they wanted to improve my quality of life. The side effects were minimal – brain fog – and I experienced symptomatic relief for about a month after the trial. As is typical for people with dystonia, my symptoms fluctuate with variables such as sleep and other stressors. I consider the trial to have delivered net benefits to my conditions, including the ability to write with my right hand and the elimination of most pain.
About the clinical trial & treatment
The clinical trial that Steph participated in was funded by a 2022 Brain Foundation research grant. It was a study titled ‘MRI Guided Focused Ultrasound (MRgFUS) For Focal Hand Dystonia’, and led by Dr Joel Maamary.
MRgFUS is a new minimally invasive neurosurgical treatment method. This treatment uses high frequency ultrasound beams to interrupt the pathways involved in generating the dystonia without requiring a surgical incision or open neurosurgery. You can read more about Dr Maamary’s research on his research grant page >
BF: Hopefully more treatments will become available for dystonia as researchers learn more. Until then, how do you think we can best support people living with dystonia?
SJ: Pay attention and ask questions (and be gracious when they have to change plans!).
BF: Is there anything else about your experience that you would like to share?
SJ: Even though Joel and I would both say that we’d have hoped for more sustained symptomatic relief than I enjoyed, I’m so grateful for the opportunity to have participated in this trial. Not only has it enabled me to write again, but it has put me in touch with the best neurology team I’ve ever encountered – and, believe me, I’ve encountered a lot! They care about me as a person, and it has transformed my outlook on life to have a team who are on my side. Clinical trials like this one are so important if we are to improve outcomes for people living with dystonia. They are worth every dollar.
Further information & resources
Thank you Steph for sharing your story and helping to raise awareness for dystonia, and also for highlighting the experiences of research participants. At the Brain Foundation, we talk a lot about research from the researcher’s perspective – but stories like Steph’s are the reason this research is so important. We look forward to funding more studies like this so that we can improve diagnoses, treatments, and patient outcomes.
Here are some other links and resources:
- Donate to brain research
- Dystonia – overview article
- Dystonia fact sheet – one page summary about dystonia [PDF]
- Other patient stories
- Share your story – fill out this form if you are interested in sharing your story
The Brain Foundation is the largest, independent funder of brain and spinal injury research in Australia. We believe research is the pathway to recovery.