Until Celine Dion revealed last December that she has Stiff Person Syndrome (SPS), you likely hadn’t heard of the condition.
The 54-year-old Canadian singer announced in an emotional Instagram video that she had been diagnosed with a very rare neurological disorder, which has begun to affect her vocal cords and mobility.
The incurable disease affects only one in a million people, with people suffering intense and painful muscle contractions so violent they can dislocate joints and even break bones. A significant proportion of people with the condition eventually become immobile and need to use a wheelchair.
Although it was initially called stiff man syndrome, it is now recognized that about twice as many women as men are diagnosed with the condition, including NSW woman Rhiannon Paul.
Doctors say Rhiannon, who discovered she has the disease just after turning 30, has the bones of a 65-year-old.
Given how rare SPS is, it took years for doctors to get the correct diagnosis.
“I had been to six different doctors and they all said, ‘Well, it’s stress, we’re going to keep increasing it.’ [your] medication,” says Rhiannon The Project Sarah Harris in a segment on tonight’s show.
She eventually called her husband, former Wallabies player Jeremy, and said: “‘I’m just going into hospital because I don’t know what this is and I can’t handle it.’
“And then five hours later, I was in bed and I couldn’t walk,” Rhiannon said.
“When she was first in the hospital, her legs were like this,” Jeremy told Harris, of the way his wife’s limbs spasmed.
“And suddenly, in the first two months, his body was almost broken in half. Like his feet were like bent, like almost breaking and [she’d be] screaming in pain.”
For Rhiannon, “the muscle stiffness and stiffness is felt from my trunk down, and afterwards I feel like I’ve run a marathon.”
There have been times the condition has left her unable to walk for weeks, relying on Jeremy to dress and bathe her.
Asked by Harris if she can get out of bed on her own most days, Rhiannon said “probably 50% 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,” he said.
“If I’m waking up and I can put my feet on the ground, that’s great.”
Professor of diabetes and autoimmunity at Queen Mary University of London, Richard David Leslie, explained in a December article for the conversationthere is no cure for SPS.
“The treatment is to limit the pain, relax the muscles that contract and suppress the aggressive autoimmune response,” he said.
“The latter can be done with drugs that dampen the immune response, including intravenous infusions or by filtering the blood to remove 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 even more unique is that she and Jeremy are expecting their first child together, due in May.
“We were told there were only seven women before this who had given birth with Rhiannon’s disease,” Jeremy said.
“And you know, to think that we will be eighth in the world is a miracle. It really is.”
Originally published as ‘Screaming in pain’ – Australian woman shares experience with stiff person syndrome