The difficulty of diagnosing an ‘invisible’ disorder
The second in a three-part series on Fetal Alcohol Syndrome, a developmental disorder that affects one million Canadians
HE’S CHANGING PEOPLE’S LIVES WITH HIS STORY. HOW MANY PEOPLE CAN SAY THAT?
Paul Thompson often told himself he’d never amount to anything. He struggled at school. He could read and write, but staying focused on assignments overwhelmed him. And home offered little support: his mother suffered from addiction, so Thompson was raised by an aunt and uncle in the Fraser Valley in what he describes as an unhappy environment.
By 16, he decided to run away. Occasionally he roomed with friends or his sister. He got the odd job doing manual labour and sometimes managed to pick up a welfare cheque. But there were also times Thompson resorted to petty crime and was arrested. Mostly, he lived on the street.
Then he met Glenda and Pete Jansen. A Richmond, B.C., couple with a deep commitment to helping others — she is a special education assistant, he has worked as a pastor — they had been serving meals to the homeless from the back of their car for six months when Thompson lined up for a Sunday dinner. A friendship evolved, and the Jansens eventually took him into their home so he could get his life on track.
It was slow going. Weeks turned into months, months turned into a season. Thompson managed some work, but routines were difficult for him and he was easily frustrated. It wasn’t until Glenda attended a workshop on Fetal Alcohol Spectrum Disorder (FASD) that “a light kind of went on,” she says.
She set to work, and in October of 2012, the 46-year-old learned that he wasn’t stupid, or beyond hope, as he’d believed for so many years — he was diagnosed with a brain disorder.
More than a million Canadians share Thompson’s condition, caused by exposure to alcohol in the womb. There is no cure for FASD, but early intervention can offer critical strategies for symptoms ranging from mild speech and memory deficits to severe cognitive delays.
Without support, however, outcomes can be devastating: unemployment, homelessness, addiction, abuse. According to some estimates, up to a quarter of inmates in Canada may also be affected.
But while FASD has been well documented for more than 40 years, it remains among the most misdiagnosed developmental disorders, and is often missed altogether. The cost to individuals is obvious. Experts estimate there is a steep cost for taxpayers as well, about $1.8 billion a year as a result of both lost productivity and added strain on the health-care and justice systems.
Both FASD advocates and medical researchers are now trying to make sense of what’s been standing in the way of early detection and treatment — and whether emerging science might offer new solutions.
Dr. Ira Chasnoff, a Chicago pediatrician and a leader in FASD research, has seen first-hand how dramatic misdiagnosis of what is sometimes called the “invisible” disorder can be.
In a 2015 paper in the journal Pediatrics, he describes an assessment of more than 500 children referred to a mental health clinic by the Illinois Department of Children and Family Services. Most had been flagged for “behavioural problems,” with diagnoses including Attention-Deficit Hyperactivity Disorder, Post-traumatic Stress Disorder and Oppositional Defiant Disorder. But Chasnoff ’s team found that 156 — nearly 30 per cent — actually had FASD, and of those children, 86.5 per cent had either been misdiagnosed or never diagnosed at all.
Chasnoff says one of the biggest challenges is that, except in cases where children are born with distinctive facial features — small eye openings, a thin upper lip, and no groove between the nose and lips, for example — most diagnoses depend on mothers to confirm prenatal exposure to alcohol.
But disclosure comes with risk. Mothers may fear they will lose their children to social services; across North America, more than 15 per cent of kids in child welfare are suspected of having FASD. Or they may simply fear judgment, rather than sympathy or a willingness to understand, when they talk about drinking during pregnancy.
Bernadette Fuhrmann says she was deeply stigmatized when she gave talks in her community about drinking while carrying her son — even though she became pregnant in 1976, before the harm to a fetus associated with alcohol were widely promoted. “You don’t deserve to have babies,” she was told.
Diagnosing FASD is also difficult because the symptoms are fiendishly varied. No two cases are exactly alike. And as in Chasnoff’s study, FASD can often present like other disorders.
Canada’s current diagnostic guidelines for FASD include assessments of 10 different brain domains — those responsible for motor skills, cognition, memory, impulsivity control and hyperactivity among them. Tested by physicians and therapists over a number of days, three domains must be considered impaired for a formal “FASD” diagnosis.
But what if alcohol exposure impacts two, rather than three, brain domains? Or a child suffers in multiple domains, but is just above the cut-off point for what diagnosticians consider meaningfully impaired?
“You need to bring in that clinical expertise," says Dr. Gail Andrew, who leads the FASD diagnostic team at the Glenrose Rehabilitation Hospital in Edmonton. “If I see a kid who is impaired slightly, not significantly, but in five brain regions, I might still give the diagnosis.”
Race and class bias may also be a factor in the under-diagnosis of FASD.
In Canada, says Andrew, doctors are far more likely to ask about drinking during pregnancy when patients are from marginalized groups.
Geography is another barrier to diagnosis. In Canada, the gold standard is a clinic with a team that includes a physician, a psychologist, an occupational therapist and a speech pathologist. But diagnostic capacity varies from province to province. In Alberta, there are more than a dozen clinics. In Quebec, there is just one — in Eeyou Istchee, a Cree Nation in the north. Many clinics have massive backlogs. At the New Brunswick Fetal Alcohol Spectrum Disorder Centre of Excellence, located in Moncton, the estimated wait for a diagnosis is two years.
The cost can be significant, too. While some assessments are free, the bill for Thompson’s diagnosis came to $5,300 — which the Jansens raised over nine months.
A cheek swab may be the way forward.
There is no genetic test for FASD. But many studies have shown that environmental factors, including prenatal alcohol exposure, can have what’s called an “epigenetic” impact — changing the way genes behave. Research on rats, for example, has shown a link between prenatal exposure and how offspring produce proteins responsible for regulating stress responses.
In 2016, a team at the University of British Columbia studied DNA samples from more than 200 children and found similar epigenetic “signatures” among those either diagnosed with FASD or exposed to alcohol in utero.
Other research suggests that such epigenetic changes may even be heritable. A 2012 American study found that the impact of prenatal exposure to alcohol in rats persisted for three generations. If the research bears out, it means that parents with FASD could pass on associated deficits — even if their own children are not exposed to alcohol in the womb.
The impact of paternal alcohol consumption is another question researchers are exploring. Results so far include lower birth weights as well as cognitive deficits in the offspring of fathers who drink.
Dr. Geoff Hicks leads the Regenerative Medicine Program at the University of Manitoba and has been studying the role of epigenetics in FASD for years. He says research around heritability of epigenetic changes and the effect of alcohol on sperm are both in early stages.
He is also cautious about using epigenetic signatures for diagnosis.
“There can be many confounding effects for FASD, like stress and economic status,” he says. “They’re all environmental impacts that could and would leave epigenetic marks, so it may be a long time before we can say, ‘This is alcohol’ versus ‘This is smoking,’ versus ‘This is alcohol, smoking, and poverty.’ ”
But the findings out of UBC, which investigated more than 400,000 genetic sites to identify a pattern associated with FASD, are promising enough that Hicks is now working with a large team to develop a clinical tool to help flag children at risk of the disorder.
A cheek swab could determine whether babies as young as a year old need tracking for potential support. Right now, a diagnosis is usually not confirmed until the age of six, which can be too late for optimal results. Hicks’ tool could also be significant in cases where it’s difficult to confirm maternal drinking during pregnancy.
“We know early interventions work,” says Hicks. “There are learning interventions and memory interventions, and if these are all done before the age of six, when the child’s brain is developing, they can have strong, profound outcomes.”
Without a diagnosis, many of the behaviours a child with FASD exhibits — aggressiveness, for example, or continually repeating the same mistakes — can be misunderstood and are often mishandled.
When her son refused to take medication during high school, one Edmonton mother recalls, he became so aggressive that he threatened to kill his principal. Instead of assigning a social service worker to his case, the school expelled him.
Fuhrmann’s son was violent even in preschool, and by the age of five started playing with fire. By his early teens, she says, he got involved in crime and drugs and was repeatedly in trouble with police.
Cognitive deficits may also hinder even seemingly high-functioning adults. One woman with FASD says she was fired because she could never get her tasks done on time. Another says she was so overwhelmed by work that she suffered a mental breakdown.
By contrast, a diagnosis of FASD can unlock vital access to educational supports, financial aid, housing and employment programs.
In 1995, the Winnipeg School Division responded to data showing an increase in students with FASD in the province by establishing a classroom specifically designed to address common challenges of the disorder. Teachers take children through the curriculum at a slower pace, offer such spaces as soundproof rooms to mitigate sensory overload, and help kids understand both how FASD affects the brain and how they can address their difficulties.
Perhaps it is this last piece — the psychological impact of a diagnosis — that is most transformative.
It wasn’t until her son was 25 that Fuhrmann learned about FASD. She encouraged him to get a diagnosis, but for many years he resisted. He insisted he was responsible for his actions and didn’t need help. But at 31 he landed in a penitentiary. On a call from prison, he told his mother, “This is the worst place I’ve ever been. I think I want my diagnosis.” She says it was the best thing that ever happened to him.
Savanna Pietrantonio, a 51-yearold in Hamilton, Ont., wasn’t diagnosed until the age of 47. By then she had already developed her own coping mechanisms and support systems. And knowing she has FASD hasn’t suddenly made her depression and anxiety disappear: “There are days where I don’t drive my car because my thoughts are so dark. I don’t trust my brain. I don’t know what I will do. It’s like your brain is searching for a place to rest and can’t find one.”
For all that, she says her diagnosis still fundamentally changed her for the better. “For 47 years I believed I was bad and stupid, just a person who always made bad decisions. When I got the diagnosis I realized this wasn’t my fault. I wasn’t a problem — I had a problem.”
Now 53, Paul Thompson is living in the basement suite of a three-storey home with a big backyard — safe and stable housing that’s a direct result of his diagnosis.
His mother had always denied drinking, and was in the hospital at the time of his FASD assessment. But at the discretion of diagnostic teams, confirmation of prenatal alcohol exposure is now sometimes accepted from family members and social workers. Thompson’s cousin stepped in on his behalf.
Thompson’s formal diagnosis made him eligible for Community Living British Columbia, which supports adults with disabilities and helps them find affordable housing.
Over the past several years, he and Jansen have become advocates for other adults with FASD as well. They’ve spoken on panels across the country, sharing their stories — and the message that it’s never too late to get a diagnosis.
There are still few diagnostic clinics in Canada that will assess adults, Jansen says. The emphasis on early intervention can also obscure the reality of living with an irreversible disorder: the need for support doesn’t end just because you turn 18.
Across the country, even adults with formal diagnoses of FASD are often stuck on long waitlists for services. Others aren’t able to access services at all, because their IQ or adaptive functioning skills are too high for provincial requirements.
Jansen says she remains Thompson’s “primary go-to person.” She helps schedule and take him to appointments, assists him with budgeting, and loads up his freezer with food so that he doesn’t resort to his favourite meal of Kraft Dinner every night.
Thompson picks up occasional work doing manual labour. But his disorder makes full-time work difficult. “His success is different from someone else’s,” says Jansen. But as she points out, “he’s changing people’s lives with his story. I mean, how many people can say that?”
Most importantly, Thompson is proud of himself. He no longer feels like he’ll never amount to anything. Gesturing to his living room and his kitchen, he stretches his arms out wide. “Look what I’ve got now,” he says.
Vanessa Hrvatin is the eighth recipient of Postmedia’s Michelle Lang Fellowship, named for the award-winning Calgary Herald reporter who lost her life in 2009 while on assignment in Afghanistan. Fellows spend one year on a project of social significance inspired by Lang’s own portfolio of work and contribute daily reporting during placements at the Calgary Herald and the National Post. Hrvatin undertook her project following a Masters of Journalism at University of British Columbia. She has also contributed to publications including Maclean’s, The Tyee and The Globe and Mail.