Incurable dystonia diagnosis is like a 'life sentence'

By Ceri Coleman-Phillips
BBC News

  • Published
Media caption,

Ms Pierce-Jones used to be full of confidence but now lives "day-to-day" in chronic pain

Ann Pierce-Jones used to be "full of life, vigour and drive", but was given a "life sentence" the day she was diagnosed with an incurable neurological condition.

The 56-year-old from Caernarfon, Gwynedd, had experienced slight tremors and neck pain from her late 20s, but when the symptoms worsened a few years ago, she became one of about 5,000 people in Wales to be told they have dystonia.

It is a disorder caused by a problem with the part of the brain that controls muscle movement and can lead to repetitive and painful muscle spasms and contractions.

It is commonly treated with regular Botox injections, which paralyse nerve connections.

Ms Pierce-Jones had two rounds of treatment at Ysbyty Eryri, but said the Botox caused "horrific side effects" which led to her being off work for five weeks.

"As a single person with a mortgage it made me nervous about my employment."

Image source, scyther5/Getty Images
Image caption,
Botox is injected directly into the affected muscles

She asked to be referred to a neurologist and made a 200 mile round trip to the Walton Centre in Liverpool where she was connected to an electromyograph (EMG) machine which showed the affected muscles, and allowed Botox to be injected more accurately.

"The relief was so much better," she said.

Looking for a more permanent solution, Ms Pierce-Jones turned to deep brain stimulation (DBS), which involves implanting electrodes on either side of the brain, which connect to a "brain pacemaker" in the chest through tiny wires.

She had the five hour surgery last November and has since returned to Walton to have her "brain re-programmed".

Image source, Nikada/Getty Images
Image caption,
Specialists will attempt to re-programme Ms Pierce-Jones' brain to stop "incorrect messages" being sent to her muscles

"They sat me down with an iPad, turned the pacemaker on and went through each point of the electrodes," she said.

"The first time was pretty scary... I temporarily lost my ability to speak, my speech slurred, I couldn't swallow and my right arm went limp.

"But on another setting all the pain and tremors disappeared, which was absolutely amazing."

Ms Pierce-Jones said she had lost her life to dystonia but the surgery showed her she could get it back.

"I used to be full of life, but I've lost my confidence. I feel as if I'm simply existing. It's like a life sentence from which there is no escape.

"I haven't worked since September, so financially I'm in a dark place.

'Constant pain'

"I can't sleep, socialise, drive… all the things that people take for granted.

"Even going to the hairdressers is difficult because my head shakes."

Ms Pierce-Jones said she tried "to find humour" in her condition and that she did not want pity.

"I am fully aware that others with dystonia are going through the same battles," she said, adding she was grateful for support groups, like Dystonia Cymru.

"These people are like family... dystonia is very isolating and there is so little awareness unless you have it. Others have no idea what it's like to constantly live with chronic pain, muscle spasms and tremors."

Image source, Google
Image caption,
Ms Pierce-Jones wants improved services for dystonia patients in north Wales

Ms Pierce-Jones is calling for an EMG machine to be made available in north Wales, rather than all dystonia patients being "injected blindly" with Botox.

"Dystonia is very complicated and affects different muscle groups, therefore one size does not fit all," she said.

She has met with consultants with Betsi Cadwaladr university health board and is hoping to be involved in a group "to move things forward".

A health board spokesman said it was working to improve knowledge and understanding of conditions such as dystonia.

It has set up an advisory group which "aspires to develop north Wales as a centre of excellence for movement disorders services".