How I'm Getting My Legs Back After a Rare Dystonia Diagnosis

“We think you may have dopa-responsive dystonia.” I was in complete shock as a neurologist sat beside my hospital bed suggesting I no longer had PNKD, a condition I had only recently began to accept. For the past two years, we believed I had a condition known as paroxysmal non-kinesgenic cheorothestosis (a rare type of dystonia).

In the afternoon of April 2014, my torso had begun throwing me back and forth violently, spasming uncontrollably. After 6 hours of continuous involuntary movement, we decided I needed to get to the hospital as it was showing no signs of getting better. I was taken into the majors unit fairly quickly and had the routine things checked; blood, blood pressure, oxygen saturation etc. For the last 30 minutes I had been lying down on the bed, drained and overheating from the exhaustion of the consistent violent movements. The doctor found that my heart rate drop then shot up rapidly once a stood up. She suggested that it may be a condition called postural orthostatic tachycardia (POTS) and put me on a saline drip. I was told I would be OK to go once the drip had emptied into my bloodstream. I was never given a brain scan that night! After over 6 hours from when my tremors started, they began to calm and I finally got to go home. But the problem was, my tremors hadn’t completely gone.

The next morning I woke up with no tremor. I felt a huge sense of relief, however it didn’t last long as my tremors began again within a few minutes of being awake. My mum booked me straight in to the doctor. He did a full physical examination, looking very concerned. The emergency room doctor wrote a note for him, explaining what had happened and that she thought it was being caused by POTS. My GP instantly dismissed it, told me this shouldn’t happen due to POTS and that I needed an emergency brain scan as it could possibly be a brain tumor. Horrified, we returned home with some beta blockers to try to see if they would  help, and had an urgent referral made to a neurologist.

Over the next few months I had countless tests carried out to try to find the problem. My brain scan came up clear, ruling out a tumor, stroke or bleed on the brain. All blood tests came back normal, as did my test for Wilson’s disease. We were baffled, but I continued with medication as it was helping to reduce the severity of the tremors.

A few months passed and I was beginning to get worse. I had been to see a cardiologist who ruled out POTS from a table tilt test and a 7 day monitor to check if it was related to my heart. I started to get bit of what I now know to be myoclonus around the end of June. I knew that something was going on in my body, and had a horrible feeling something bad was going to happen.

On July, 12, 2014, I had what appeared to be a seizure, although I was conscious. My family rang the ambulance and was rushed to the hospital, where I was kept in for 2 weeks and had every test you can imagine. It was the worst time of my life; I can’t describe how scared and depressed I felt. After being released, I saw my neurologist a few days later, who diagnosed me with paroxysmal non-kinesgenic cheorothestosis.

Over the next 2 years things began to change; new parts of the body began to be affected by the dystonia. My body would contort, shake and freeze in positions. I had a few episodes which I now know to be dystonic storm. My neurologist was fantastic and tried to help however he could, trying various anti-seizure and other meds. I felt like it was constant battle to function every day, as I was always drained of energy. Trying to have a social life became a chore; I felt I had no energy to go out after work, as the medication and condition was making me feel like a zombie.

In July I got a job working at the local hospital. I’d been on the ward for 2 weeks and I started to feel my body struggling. I tried to ignore it, but it started getting worse. My neck started pulling again, and I was getting tremors in my hands and stomach. Then something that had only happened twice since my condition started — my legs started turning in. My knees would touch, my legs stiffened, my big toes pointed upwards and I could barely place my heel on the floor.

Less than a week after, I had a severe dystonic storm and was rushed to the hospital by ambulance. I had a horrible feeling the previous night that something bad was about to happen. I cried to my fiancé that I had a feeling my legs were going to deteriorate further, and I wasn’t going to be able to walk down the isle or have our first dance when we get married. In the hospital, I was given all sorts to try and calm the movement but nothing worked. It continued for almost 10 hours — I have never experienced pain like it. The whole of my body felt broken.

The next day, I realized that my legs had paid the price. I couldn’t walk unaided, my balance was off and my legs were stiff and weak. My legs were collapsing in again, but this time they stayed that way — they had become fixed in a dystonic posture. With my PNKD I had always had episode of dystonia where it would come and go, but it had never been constant. I was kept in for almost 2 weeks, monitored closely and had therapists teaching me how to walk on crutches so I could get around. I’d use a wheelchair for any long distance.

When I finally got discharged from the hospital, I had a hand rail fitting so I could get up and down the stairs and adaptions made in the bathroom to give me independence. My world felt like it had been turned upside down. I couldn’t go back to working on a hospital ward again. I was devastated. I began having physiotherapy to get me walking on just one crutch, which I managed! I worked so hard to try to get my legs working like they were before, but I was still needing a wheelchair for long distances.

Then just 6 weeks later all that hard work seemed like it was for nothing. My mouth started drooping, my speech slurred and I thought I was having a stroke. We went straight to the hospital. It all began again; my body deteriorated back. After a few day it was suggested that I had a trial of a medication called Sinemet. They said if I had dopa-responsive dystonia, I’d see a difference in just a few days.

As you can imagine, I was skeptical. I didn’t see how a tablet was going to sort out my legs; I could barely walk and couldn’t even stand without holding onto something. A few days passed, and I thought nothing was going to change. Then on the third morning of being on the medication, I got up to go the bathroom and noticed I could barely feel any pain in my legs — the pain had been excruciating from my increased muscle tone. I decided to take my hand off the wall and take a step forward. I couldn’t believe it; my leg moved so easily and I kept my balance. I took one step after another, and realized the doctors were right. I could walk on my own again.

I burst out crying in disbelief, and phoned my family to tell them the good news. After a couple of hours, my neurologist came to see me and I was able to show him that I could walk independently. The diagnosis of dopamine-responsive dystonia was confirmed.

The past few months have still been hard. I still struggle to walk long distances, and it can start the dystonia in my legs again. I find the pain is still there a lot, even if my legs are functioning completely; I suppose it’s a way of warning me not to overdo it. I’m still really struggling with my fatigue at the moment. I’m having to learn my limitations all over again, but I am getting there.

Now I think back and wonder if there were previous signs about this condition. When I was younger I walked around on my tiptoes without realizing, which I’ve seen can be a sign. I also had both knees operated on when I was 17, which I previously thought was due to hypermobility syndrome. But the most worrying thing is that I had occasions in the past of unexplained temporary paralysis in my lower limbs. The longest it ever lasted was less than 5 minutes and, we have never known what caused it.

I see a professor in London who is an expert on dopa-responsive dystonia next month. It can’t come soon enough. I just want to find more out about the condition and what it means for my future. I’m optimistic that it won’t stop me getting what I want from life. With time I’ll learn how to manage it better, but I know it won’t be easy.

I’m starting to get my life back together now. I’ve started going out more, applied for a job in administration as I can’t go back to anything too physical, and I’m starting to feel more positive again. I’m just grateful that a tablet has given me back my life. Who’d have thought it possible?

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