“I sit here and think ‘How did I get so lucky?’” says Susan Day Fragiadakis, a research assistant in Holland Bloorview’s Autism Research Centre.
Susan recruits and assesses children and youth and their families for a study that aims to link genetic changes with specific types of autism and other neurodevelopmental disorders like Down syndrome.
Susan is part of a Province of Ontario Neurodevelopmental Disorders (POND) Network study that follows over 300 children and young adults.
“The goal is to understand how genes and biology affect the brain and behaviour in autism and other neurodevevelopmental disorders,” Susan says. That includes attention deficit hyperactivity disorder, obsessive compulsive disorder and intellectual disability. Participants give a blood sample for genetic analysis; have a brain scan; do interviews and questionnaires; and choose whether they wish to participate in a medication trial.
Susan’s role includes conducting detailed parent interviews that track “everything you could imagine about a child’s history back to birth: sensory issues, anxiety, sleep, eating, medical history.”
Her passion for understanding autism stems from her own family’s experience with incorrect information when her brother Rick was diagnosed in the early 1960s (see Susan top right in photo, with her siblings).
“My mother was told that Rick’s autism was the result of poor parenting,” Susan says. “The implication was that somehow she had damaged my brother and the only treatment offered was psychotherapy for her. When she pointed out that she had two typically developing kids in the waiting room, the response was ‘but they’re girls.’ The way my mother and father dealt with it was to be an open book—to share our story to move understanding along. My mother wanted to educate people to help the next generation of families.”
Susan’s work on the POND study feels like coming full circle from her family’s experience of being blamed for her brother's autism, she says. “I used to worry about the lack of quality research into autism and now I get to work in a lab led by a child neurologist, a psychologist and an engineer that’s doing quality research that’s going to advance our knowledge and potential interventions.”
Susan has fond memories of her childhood. “When we lived in a small town my sister and I would take Rick on adventures that we didn’t fully explain to my parents. My older sister was the boss and I was the little sister. Rick would go cliff-climbing with us or ride his bike with us out into the country or go to the race track with us.”
Rick never attended school. “In some towns we lived in he went to programs run in church basements by 'the Association for the Mentally Retarded.' But the rest of the time he was with my mother and he liked to help her with cooking and cleaning and doing the laundry.”
In his early teens Rick went to live in an institution. “I feel very guilty about it,” Susan says. “I’ve never talked to my sister about it but I’ve always felt that some of it was that my parents thought it would be the best thing for my sister and me. That’s what they were told. Rick got very sick when he first went. There was a long period of time where we were told that to help him adjust we weren’t allowed to see him. That was hard. I think I blocked out a lot of things I didn’t want to remember.”
As a teenager, Susan worked with other children with disabilities. “My mother volunteered me to babysit for free for a family that had a child with autism. I think I knew I had skills working with individuals with disabilities and their families.”
That led her to study psychology at university. Ironically, Susan did an eight-month clinical master’s placement at the same institution her brother had once lived in. “It was eye-opening,” Susan says. “There’s a reason they were closed. They’re not the ideal setting for most people.”
Rick was one of the first people transitioned back to the community. He now lives in a group home and visits Susan and other family members every two to three weeks. At 60, he loves horse-back riding, sawing wood and fancy restaurants.
After graduating Susan spent decades educating people about autism, most recently at the Geneva Centre for Autism. “What people remember most from my talks is the examples I’ve given of my brother. As a family, we always talk about how Rick has educated two generations of workers. When I did public speaking there was always someone in the audience who knew Rick. One time I was talking about strengths and how just because you can’t talk and didn’t go to school doesn’t mean you don’t have strengths, and a woman in the audience started crying. It turned out she’d done her master’s research on my brother and had interviewed my parents. Rick’s had a huge impact on a whole lot of people’s lives.”
In recruiting families into the POND study, Susan feels she’s enabling youth and families to continue educating professionals. “I was consenting a kid into our study and one of the questions is ‘Why do you want to be in this study?’ This boy said ‘I want to be in the study because I can talk and I can tell you things that those other kids at my school who can’t talk aren’t able to. I’m speaking for them.’”
Growing up, Susan’s family participated in lots of research studies but didn’t typically hear back on the outcome. “I’m proud of the fact that we have annual science days for our POND families and the principal investigators come and explain how they’re using the data. The families are giving us their time, their information, and opening up a lot of stuff for us. We have a responsibility to respect them.”’
Susan believes her experience as a sibling to a brother with autism and as a parent to her own children helps her draw out the information she needs from parents.
She’s excited that the study is leading to practical interventions. For example, scientist Azadeh Kushki is developing an anxiety meter “that gives youth a visual prompt to changes in their heart rate that signal they need to do a calming strategy. This helps because kids with autism have difficulty identifying their symptoms of anxiety. It’s truly a collaborative effort.”
Most kids enjoy participating in the POND study, Susan says. “They’re with people who appreciate them and see their uniqueness as an interesting thing, as opposed to something to be fixed. We meet some of the most amazing kids who daily teach me something new.”
The study is funded through the Ontario Brain Institute until 2018. “It’s such a robust, rich source of information,” Susan says. “I hope we’ll be able to follow some of these kids and their families longitudinally.”