Honouring Julia’s legacy: transforming lives with provincial investment in genetic counselling
Genetic counselling is a vital part of modern health care, offering clarity and support for individuals and families facing genetic conditions from pre-birth to adulthood. At Hamilton Health Sciences’ McMaster Children’s Hospital, the Genetics & Metabolics Clinic provides genetic testing and assessment, family counselling, and long-term care and management for patients who are diagnosed with genetic conditions. Through the journey of genetic testing and diagnosis, families often meet with a genetic counsellor. This was the case for Katie and Dave Simpson and their daughter Julia.
“Julia laughed and smiled and cuddled her way through her short but meaningful life, against all the odds.”
Born in 2012, Julia was three months old when her parents noticed she was not meeting milestones in her development. When vision issues were suspected, the Simpson family hoped that Julia just needed eyeglasses. But then seizures began – up to 12 a day, and there were more developmental delays. Doctors believed that Julia had a neurological condition, though there was still no exact diagnosis.
It wasn’t until Julia was two-and-a-half years old that the neurologists and the genetics team at McMaster Children’s Hospital (MCH) determined that Julia had a genetic disorder, which at the time was called Lethal Neonatal Rigidity and Multifocal Seizure Syndrome (RMFSL). The condition is caused by the presence of two mutations, one in each of the two copies of the BRAT1 gene.
The condition was so rare that Julia was one of only six known cases in the world.
“It was the worst news you could ever hear,” Katie recalls. “Nobody had any answers, any timeline, any idea of what the future would hold for Julia. It was a lonely and isolating experience.”
Dave and Katie began working closely with Lauren Brick, MCH Lead Genetic Counsellor, who supported them through this difficult time by helping them navigate the health care system and making complex medical information about genetics more understandable.
Defying expectations
Katie and Dave made the conscious decision to focus on giving Julia the highest quality of life possible during the time they had with her.
For the next six years, Julia defied expectations, thriving at home and in school, where she was beloved by her classmates and her little sister, Evie.
“She was a rock star at school. They loved her, and she really did thrive.”
“She was a rock star at school,” Katie says. “They loved her, and she really did thrive, even though there was some degeneration that was starting to kick in.”
As Julia’s condition progressed, the family faced difficult treatment decisions, but they remained steadfast in their commitment to her comfort and well-being. She spent 90 to 95 per cent of her life in the comfort of her home, not in hospital.
“We didn’t want to keep pushing her and grinding her with medical interventions,” Katie explains. “We just had to accept and respect that she was tired and ready.”
Julia passed away in February 2018 at the age of six years old. But her legacy lives on with her family and those who knew her and her health-care team who supported and learned from her.
“Julia laughed and smiled and cuddled her way through her short but meaningful life, against all the odds,” says Katie.
Julia’s genetic legacy
Julia’s presentation with a lethal condition that was previously thought to appear solely in newborn babies helped to expand global knowledge of the disorder.
In 2015, Julia’s care team published an article in Pediatric Neurology, a medical journal. The article, Lethal Neonatal Rigidity and Multifocal Seizure Syndrome – A Misnamed Disorder? helped to raise awareness of BRAT1 gene mutations that can present differently, with the goal of helping health-care providers to recognize the full spectrum of this condition in other patients.
Lauren Brick, pediatric lead genetic counsellor
“The language and naming conventions for genetic conditions often evolve as we learn more, and this has certainly been the case for the BRAT1 gene,” says Brick. “It is not unusual for the first cases of a newly described genetic condition to be those who have symptoms that are on the more severe end of the spectrum. This is partly because these are the patients who are more likely to undergo genetic testing.”
Julia was one of the first patients with milder and different features that led to the development of a second diagnosis name, neurodevelopmental disorder with cerebellar atrophy with or without seizures (NEDCAS). If Julia were to be diagnosed today, she would fit into the second NEDCAS diagnosis.
“Julia was kind of like the crusader,” Katie says. “She was one of the first to be published in a medical journal.”
Family planning
“Julia was the life that just keeps giving all of this time. She just brought us so much love and joy.”
When the time came to continue their family planning, Katie and Dave returned to the MCH genetics service. Knowing the increased risk of passing on the genetic condition to another child, they pursued in vitro fertilization.
With the support of the hospital’s genetics team, they were able to screen embryos and welcome a healthy son, Tommy, in 2020.
“Knowing that Tommy was healthy was pretty powerful for us,” said Katie. “If Evie is not a carrier, that mutation won’t be passed along, which lowers the chance of someone else in a future generation to have the same condition,” Katie says.
Today, the family continues to cherish Julia’s memory, sharing her story and memories.
“Julia was the life that just keeps giving all of this time,” Katie reflects. “She just brought us so much love and joy.”
Previous long waits added stress
As the lead genetic counsellor in pediatrics at McMaster Children’s Hospital (MCH), Brick knows firsthand the profound impact that access to these specialized services can have on families like the Simpsons.
As a result, the wait time has now been reduced.
Specially trained in medical genetics and counselling, she is one of just 300 genetic counsellors in Ontario, and an integral member of the MCH genetics team. In her role, Brick helps individuals and families understand and adapt to the medical and psychological implications of genetic conditions in themselves and their families. She discusses inheritance patterns, risks, options, implications of genetic testing results, and helps people make informed medical and personal decisions.
Prior to recent funding, 800 to 900 patients were facing wait times of up to 19 months just to get an initial appointment with the MCH team — a barrier that left many people in limbo, unable to move forward with critical health decisions.
“The wait has been a big source of stress for our patients,” Brick explains. “People might be coming in with questions about family planning or whether they are at risk to develop a condition that is inherited in their family. But they’ve had to put those life plans and questions on hold until they could be seen.”
The consequences of delays can go beyond just emotional strain. Patients are sometimes unable to access important medical screenings or take preventative steps, simply because they are waiting for their genetic counselling appointment.
Life-changing improvements to genetics program service and access
As part of a historic provincial investment of more than $48 million in care at MCH, the genetics counselling service has transformed access to these vital services. By providing volume-based funding tied to increasing the number of patients seen, MCH has been able to hire two additional genetic counsellors, a genetics assistant and a business clerk.
As a result, the wait time has now been reduced to just eight months with approximately 500 people on the waiting list – a dramatic improvement that is already making a difference in people’s lives and may improve further in the coming months.
“It’s been life-changing for a lot of families,” Brick says. “Suddenly, they’re able to move forward with the testing, the family planning, the medical management that they’ve been needing. No one should have to put their life on hold for nearly two years just to get the answers and support they require.”
Once individuals or families begin genetic counselling, they typically receive care for a few months to a year. People often return for genetics counselling in later years, as a teen or adult, related to family planning or finding out new information about their genetic testing result or condition.
“While there’s still work to be done to ensure equitable access to genetics services across the province,” says Brick, “we are grateful for this transformative funding and the opportunity to help more people with their genetics needs.”
