A doctor said it would be too much of a coincidence for two sisters, aged in their twenties, to both get multiple sclerosis (MS) - but then it happened. Why researchers say where you live increases your risk of getting the condition.
Video above: Insight looks at how people manage their multiple sclerosis, and asks: How close is a cure? Tuesday, August 20 at 8:30pm on SBS and SBS On Demand.
Sophie Holloway was 21 when she lost coordination down her right side. Typing an email, her hand slid off the keyboard; she started to limp; and when the GP asked her to touch her nose, she missed.
The doctor said it was a stroke. Holloway prayed he was right.
Two years earlier, Sophie Holloway’s older sister, Monica Evans had been diagnosed aged 20 with relapsing remitting multiple sclerosis (RRMS).
Their mother, a nurse, was worried her younger daughter’s symptoms might also be multiple sclerosis (MS), but the doctor said it’d be too much of a coincidence.
“I was so stressed about having MS, having seen my sister struggle so much with it,” Holloway, now 38, told SBS Insight. “MS was the last thing I wanted.”
More than 25,600 Australians have multiple sclerosis; three quarters of them are women, and most are diagnosed in their twenties or thirties.
MS attacks the central nervous system, causing irreversible scarring on the nerves. Messages from the brain along the nerves are blocked or distorted, affecting bodily functions including eyesight, speech, mobility, cognition, balance and bladder or bowel control.
Seventeen years ago, an MRI confirmed Sophie Holloway’s worst fears. She too had RRMS, the most common type of MS.
“I was shocked. It wasn’t supposed to be genetic, so Sophie was supposed to be safe,” Monica Evans, now 40, told Insight’s Jenny Brockie.
The sisters’ uncle, and their mother’s cousin have subsequently also been diagnosed with MS, and they now believe their maternal grandfather had it too.
“When I was diagnosed, they thought there was no genetic link,” Sophie Holloway said. “They have never done any testing of our family, but obviously there is something in our family.”
In the two decades since the sisters’ diagnoses, researchers have identified more than two hundred genes which contribute to a person’s risk of developing the incurable disease.
“There’s a lot of evidence that there’s a strong genetic contribution,” Associate Professor Todd Hardy, a neurologist and co-director of the MS Clinic at Sydney University’s Brain and Mind Centre, said.
“It’s not a surprise that we do see family members with MS, but it’s not something we think of as a classical genetic disease where it’s passed down strongly from family member to family member. There’s a fairly substantial environmental contribution as well.”
“You’ve got to be the right person, which is the right genes, or really the wrong person in the wrong environment,” the University of Tasmania’s Professor Bruce Taylor said.
The future can be terrifying. But MS has changed my outlook on life...
Tasmania has the highest MS rate in Australia, with Tasmanians seven times more likely to get the disease than people in Northern Queensland.
“The further you get away from the equator, the higher your risk of getting MS,” Professor Taylor, also a neurologist, explained.
“As you go further south in Australia, the lower your winter sunlight is and lower your vitamin D levels are. Both vitamin D and sunlight have independent effects on the risk of getting MS.”
Professor Taylor’s conducting trials in people who’ve had a first MS attack, to understand if supplements will reduce the risk of their disease progressing.
Todd Hardy believes there’s never been a better time to be diagnosed with MS, with at least 12 drug therapies now available for RRMS. But there are still little or no treatment options for people living with the more progressive forms of the disease.
Monica Evans and Sophie Holloway are both on disease modifying drugs, and neither has had an MS relapse in years. But there remains no cure for the existing damage to their nervous systems, and no one can predict if, or when, their diseases will progress.
“The future can be terrifying. But MS has changed my outlook on life. I don’t sweat the small things as much as I did. I am that mother that’s playing with their kid at the park, because I may not be able to do that later in the future,” Holloway said.