Genome-wide sequencing pilot project helps Ontario families get answers
Q&A with Mallory and Anna Boileau
The Genome Canada-led All for One initiative is advancing a new standard of care for rare disease patients across the country—increasing equitable and timely access to accurate, genomics-enabled clinical diagnosis for Canadians with serious genetic diseases. In Ontario, this initiative is being undertaken by Genome-wide Sequencing Ontario, which is co-led by CHEO and the Hospital for Sick Children, and co-funded by the Ontario Ministry of Health and Genome Canada.
Twelve-year-old Anna and her Cornwall, ON family had been on a quest for a diagnosis for her rare condition since she was an infant. Anna spent the first 12 years of her life in and out of hospital as health professionals struggled to identify what disease was impacting all the muscles in her body, making her prone to injuries and stopping her breathing at night.
A few months ago, genomic testing revealed that Anna has Selenon-related myopathy, a disease that affects the muscles that control voluntary movement in the body. Anna’s mom Mallory describes their long journey to a diagnosis and the impact that increased access to genomic sequencing will have on Canadians.
As a first-time parent, Mallory had no idea her newborn, Anna, had a rare disease. The family would spend half of the first year of Anna’s life at CHEO.
“There was no heads up. There wasn’t anything in any ultrasound that could have indicated that we were going to have a different road ahead. It was a struggle and a half. Especially not knowing what you’re dealing with. You’ve got that new mom jitters thing. I was trying to breastfeed, and everybody thought she wasn’t growing and thriving, because I was doing something wrong. As a new parent I was second guessing everything I was doing.”
The first few years of Anna’s life continued with painful symptoms, a steep learning curve for her parents and some encouraging milestones highlighting Anna’s feisty spirit and persistence.
“Everything was a challenge. Getting her to do anything physical, including just putting her in a car seat. Her head was too heavy for her neck, so she would get jammed, and we would have to massage her neck to loosen up the muscles, because she was suffering. Just leaving the house was painful for her. I had to practically become a nurse in her first year of life. I learned how to put feeding tubes in Anna’s nose to avoid her lungs, for fear of drowning her. I had to learn how to handle medical equipment, like feeding pumps, a BiPap machine to help Anna breath at night and Oxygen. And I had to learn how to clean surgical openings. Home care nursing doesn’t do many of these things. Trying to get home care nursing with no real diagnosis is also a real challenge.
Anna didn’t walk until she was two. They told me she would never walk. We were doing physio to try and keep her muscles moving. And we had special walkers for her that we had purchased to try and encourage her. Anna was like, ‘to heck with this.’ It hurt, but she started walking. She’s very headstrong.”
The path to a diagnosis felt like a rollercoaster for Anna and her family, as new possibilities were presented, and they navigated the challenges that emerge when a diagnosis can’t be made.
“Everybody was working hard trying to figure it out, but it was a long 12 years. They got creative with the stuff they were testing for. As a social worker, I work a lot with the health field, so I knew that the outlook was pretty grim for some of the things that they were testing for. We were on a rollercoaster, and you’re thinking, ‘Oh my god, does she have this terrible or life-threatening diagnosis?’ It was really hard not knowing where we were going. Even just trying to get subsidies for anything—for all these walkers, oxygen tanks and other medical devices. If you don’t have a name for an illness, it is so hard.
Looking back, I think that most of her success is based on the fact that we pushed, and we pushed, and we said yes to everything. We were open to ideas for 12 years. But when you have a kid that’s been cut open and prodded with all these tests—some of which produced nothing—it’s difficult. After so many tests, Anna was kind of at her wits’ end. The staff at the CHEO hematology lab deserve a big high five, because she can scream up an octave.
If she had the genomics testing from the start, our experience would have been completely different.”
Genome Canada’s All for One initiative is working to increase genomic sequencing capacity and make genomic testing a standard of care for patients like Anna across Canada.
“The biggest thing I’m hoping for is that this initiative helps new parents who may be struggling with the same thing we were, which is not knowing the cause of your child’s condition. With such rare conditions, it would be a game changer to be able to share data and progress from patients across the country. If I knew then what I know now, it would have been exponentially easier on us. The stress on the family affects everything. But knowing what you’re dealing with is very different than the not knowing. The not knowing is scary.”
Today, Anna is a creative, inquisitive 12-year-old about to start junior high school.
“My favourite subject is art. I’m working on mixing secondary colours and primary colours to make another column of colours. I’ve also knitted a scarf and two hats. And I love reading. I remember being in first grade, and I had just learned to read, and they had this great book cart at CHEO, and you could just take any book. Right now, I’m reading two books. I also have a book report due at the end of the month.” – Anna Boileau
Learn more about the All for One Ontario pilot project, co-led by CHEO and SickKids, harnessing genome-wide sequencing to provide Ontarians with rare diseases with more timely and accurate diagnoses.