dopa-responsive dystonia – Dystonia and Me

Archive, January 2022, September

Day to Day Management

Posted on January 16, 2022 by dystoniaandme

No day is ever the same when living with chronic illness. The routine may be vaguely the same but each day revolves around adapting to what symptoms are presenting that day and the severity of them in the moment. What may be rather bad in the morning may be insignificant in comparison to another symptom by midday

A good example of this is today. Sundays are always our family rest days. We go to church, sometimes have family to us but generally speaking we are at home together. Now I was already shattered after a bad night sleep with nerve pain in lower right leg and lower back pain. However upon getting up my neck spasm started pulling my head down towards my shoulder. It’s a particularly nasty spasm that’s hard to break. I have a percriped Aspen collar for when my neck does which I alternate with wearing a TENS unit and a heat pack.

Picture of me ready for church wearing my Aspen collar to been help support and straighten my neck

I’ve not had to wear this collar in a while. The overly nervous me did my best to disguise it with a scarf as we sent out for church. It deffinently took some getting used to wearing it out and about and learning to ignore the second glances once again. But it’s worth to help ease off the painful spasms somewhat.

Off to church. Scarf ‘hiding’ my neck support

My Botox appointment is extremely late this time round having being schedule for almost six months instead of three. Whilst I’m hoping for a cancilation to come up, I am in the mean time going to ask my general practitioner to allow me to my Trihexyphenidyl untill I’ve had my injections

Archive, January 2021

Improving Routine To Improve Pain Levels

Posted on January 13, 2021 by dystoniaandme

Health conditions can have both a physical and emotional toll, for example chronic pain; this can impact your sleep, cause more fatigue and leaves you starting the day just as drained as when you went to bed. A routine can change all that.

Now I’m not suggesting you plan out every moment of your day!

However a well thought through routine can empower your day, lowering your pain levels over all as you’ve optimised the way you have used your body.

It’s worth asking yourself when is your pain worse in the day? What activities does that impact? Make a list. From here you can proactively look at your routine and adjust how you manage your day which in turn should lower your pain levels. An example of this is if you struggle more in the mornings, then lay out what you need (or ask someone to help you) in an accessible place. This will save you time and energy in the morning.

Make sure to include time for you in your routine and space out energy consuming tasks over the day. If there is a task you are particular struggling with think about how it can be altered. For example, when chopping vegetables does sitting on a stool help? Would buying pre-chopped vegetables be a more realistic option? Is there someone else who could do this task for you?

Doing to much will result in a Boom and Bust cycle. Pacing is your friend.

I’ll be live tomorrow night with more on the Boom Bust Cycle.

Archive, December 2020

Genes and Dystonia

Posted on December 29, 2020 by dystoniaandme

Following on from yesterday’s Facebook live where we touched briefly on genetic causes of Dystonia, I wanted to delve into this a little more. DYT1 gene is the cause of some cases of early onset Dystonia and seems to be the one people are aware of. However there is a number of other genes that can cause Dystonia. Knowing whether it is a genetic cause is worth investigating as treatment can differ. For example I have the GCH1 gene which is the cause of Dopa Responsive Dystonia. I’ve lived with my symptoms for eight years and only recently found this out. I’m now awaiting to start on the appropriate medication for this particular type of Dystonia.

Taken from http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000400350#:~:text=DYT6%20dystonia%20has%20an%20autosomal,no%20sex%20differences%20identified9.

Being diagnosed with Dystonia for the majority of people is a long road, and more complicated still if you don’t know the medical history of your parents, grandparents etc. I haven’t had contact with my father for years but I know from my mum that he had hand tremors and was often called shakey. Now this could be caused by anything and that’s important to remember but based on the fact that my hands also spasm and tremor it’s a significant point.

When I was on the initial road chasing for a diagnosis only one doctor recommended genetic testing and this was never followed up on. I then spent years fighting against the label of functional Dystonia, which seemed to being applied purely based on my previous traumas. It became a frequent sticking point, one in which I often pointed out that fighting for treatment and belief was by far more traumatic at the time than issues I’d already worked through with therapists.

It was only after resorting to private genetic testing that we discovered that I had a genetic cause; I’d been blaming it on a horse riding accident for years purely because my neck spasms started shortly afterwards.

So does having a genetic cause change anything? Yes! Some types of Dystonia are far more likely to respond to Deep Brain stimulation, while others respond to specific medications better.

It is important to remember however that not all Dystonia causing genes are known yet. This is one of the reasons family history is so important. I only went digging into my genes after my maxfax surgon mentioned that their appears to be a link between Ehlers-Danlos Syndrome and Dopa Responsive Dystonia.

Other causes can be medication induced (tardive dyskinesia), brain injury, as a symptom of another condition etc. If you have concerns over the root cause of your condition please speak to your neurology team.

April 2013, Archive

Trip to the Consultant

Posted on April 5, 2013February 24, 2022 by dystoniaandme

On Tuesday I went up to London to see my consultant, I went armed with a notepad full of questions. I must say that I was extremely pleased with how the appointment went. I felt that my consultant listened to all of my concerns and really wanted to help me.

After explaining to my consultant all of my new symptoms and how they have resulted in an increase of Non Epileptic Seizures due to the pain, my consultant had a couple of ideas. First of all, after demonstrating to him how my neck spasms (it goes down towards my right shoulder, whilst rotating left, so I am in a sort of diagonally skywards position), he decided to administer Botox to my neck.

He administered the first lot of injections to my jaw to help relieve my Ormandibular Dystonia, this was relatively painless. He then went onto my neck. I expected this to be fairly painless as well. I was wrong. It was painful, I feel sorry for my mums poor fingers that I was already squeezing as I really do not like needles that are aimed at me. However I would rather have a couple of seconds of discomfort than hours of a hideous neck spasm.

My consultants second idea, is to introduce Clonzepam into my medication cocktail. At first I shall only take it when I think I am about to have a seizure. If that does not work then I shall start taking it nightly. His theory is that when I am in severe pain, my body goes into fight or flight mode and my bodies way of fleeing is by going into a Non Epileptic Seizure, therefore the medication should prevent my body from feeling like it has to fight or flee.

We discussed the role of dopamine, and he feels that my Dystonia is not dopa-responsive, so does not want to do a trial of levadope. Whilst this is disappointing, I can understand why he feels this, I know that I was only hoping I could try it, so that if did work I would be able to return to university in September. However I am not totally giving up on this idea. From the way my consultant spoke I was given the impression that many treatment avenues are closed for me because of the Non Epileptic Attacks. I am hoping that if the Clonzepam does its role right and stops them, then my Dystonia will be able to viewed in a light that is not tainted by them, it is at that point that I shall bringing up trying Levadope again.

For now I am going to sit back and count down the days to April 18th, when my riding lessons start-up again. I cannot wait to get back to it, its my happy place.