‘Screaming in pain’: Aussie woman shares experience with Stiff Person Syndrome

A NSW woman has opened up about her experience with the same condition as Celine Dion, which has at times left her “screaming in pain”.

Until Celine Dion revealed last December she has Stiff Person Syndrome (SPS), it’s likely you hadn’t heard of the affliction.

The 54-year-old Canadian singer announced in an emotional Instagram video that she’d been diagnosed with the very rare neurological disorder, which has begun to affect her vocal cords and her mobility.

The incurable condition affects just one in a million people, with sufferers experiencing intense, painful muscle contractions – so violent that they can dislocate joints and even break bones. A significant proportion of those with the illness ultimately become immobile and need to use a wheelchair.

While it was initially called stiff man syndrome, it’s now recognised that about twice as many women as men are diagnosed with the condition – among them, NSW woman Rhiannon Paul.

According to doctors, Rhiannon, who found out she has the illness just after her 30th birthday, has the bones of a 65-year-old.

NSW woman Rhiannon Paul has been diagnosed with the same incurable condition as Celine Dion. Picture: Supplied

Given how rare SPS is, it took years for doctors to give her the correct diagnosis.

“I had been to six different doctors and they all just said, ‘Well, it’s stress, we’ll just keeping upping [your] medication,” Rhiannon tells The Project’s Sarah Harris in a segment on tonight’s show.

Eventually, she called her husband, former Wallabies player Jeremy, and told him: “‘I’m just going to walk into hospital because I don’t know what this is, and I can’t manage it.’

“And then it was five hours later, I was bed-bound and couldn’t walk,” Rhiannon said.

Rhiannon and her husband Jeremy on their wedding day. Picture: Supplied

“When she was first in hospital, her legs were sort of going like this,” Jeremy told Harris, of the way his wife’s limbs would spasm.

“And then all of a sudden, in the first couple of months, her body was like almost snapping in half. Like, her feet were like bent, like almost snapping and [she’d be] screaming in pain.”

For Rhiannon, “the muscle rigidness and stiffness is felt from my trunk down, and afterwards it feels like I’ve run a marathon”.

There have been times the condition has left her unable to walk for weeks, relying on Jeremy to clothe and bathe her.

Celine Dion revealed in December she has Stiff Person Syndrome. Picture: Instagram

SPS has started to affect her vocal chords and ability to walk. Picture: Instagram

Asked by Harris if she can get out of bed on her own most days, Rhiannon said “probably 50 per cent of the time is good for me”.

“It’s obviously difficult when you don’t know from day to day if you’re going to get up and walk or not,” she said.

“If I’m waking up and I can put my feet on the ground, that’s fantastic.”

Professor of diabetes and autoimmunity at the Queen Mary University of London, Richard David Leslie, explained in a December piece for The Conversation, there is no cure for SPS.

“Treatment is to limit pain, relax the contracting muscles and suppress the aggressive auto-immune response,” he said.

Given how rare SPS is, it took Rhiannon some time to get a proper diagnosis. Picture: Supplied

‘If I’m waking up and can put my feet on the ground, that’s fantastic.’ Picture: Supplied

“The latter can be done with drugs that dampen the immune response, including intravenous infusions or by filtering the blood to remove the harmful GAD antibodies.

“Botox can also be used to reduce muscle spasms, especially when diazepam (an anti-anxiety drug) has failed to relax the muscles.

“Other treatments include stem cell therapy, but there is no definitive treatment plan and each case must be managed individually to find the best approach.”

In Rhiannon’s case, what makes it more unique is that she and Jeremy are expecting their first child together, due in May.

“We were told there were only seven women prior to that that had ever given birth with Rhiannon’s condition,” Jeremy said.

“And you know, to think that we’re going to be the eighth in the world, it’s a miracle. It really is.”