When the wail of a fire alarm broke the night-time quiet of the hospital and her new baby did not stir, Julia Tirabasso knew something was wrong.
“I felt like it was the loudest sound I'd ever heard,” Ms. Tirabasso said, “And she slept through it.”
If her daughter, Francesca, had been born at another time or in a province other than Ontario, Ms. Tirabasso and her husband, William Jones, might never have found out exactly why their daughter could not hear the piercing alarm.
Instead, within weeks of Francesca’s birth on May 25, 2018, Ms. Tirabasso and Mr. Jones learned that a common viral infection, passed from mother to baby in utero, had made their daughter deaf in both ears.
Francesca’s case was the first to be caught by the pilot phase of a new screening program in Ontario that, as of last July, expanded to become the first in the world to offer all parents the opportunity to have their newborns tested for congenital cytomegalovirus, or cCMV, the most common non-genetic cause of permanent hearing loss in children. The province has already caught 70 cases of congenital CMV infection, 53 of them since the program became universal.
The earlier that children with hearing loss are given hearing aids or cochlear implants, the likelier they are to learn to speak. For a cost of $600,000 a year, Ontario has built a program that should catch most children with cCMV-related hearing loss in time to dramatically improve their lives, raising questions about why other parts of Canada have yet to follow Ontario’s lead.
“People are looking very closely at what’s happening in Ontario,” said Sharon Cushing, an otolaryngologist at Toronto’s Hospital for Sick Children who helped craft Ontario’s cCMV screening program. “I travel all over the world, and they’re amazed at what we’re doing.”
For Francesca, early detection of her cCMV infection helped make it possible for her to become one of the youngest babies in the province to receive cochlear implants, electronic devices that partly restore hearing. She was nearly six months old when the implants were turned on for the first time, on Dec. 10, 2018.
In a CBC news clip that has been viewed online nearly four million times, Francesca is quietly chewing on a rubber giraffe when a loud beep played by audiologist Susan Druker catches her attention. Francesca looks up and smiles.
Ms. Tirabasso leans in: “Ciao, Francesca.” Mr. Jones chimes in with, “Hi, Francesca.” The little girl rewards her parents with a wide grin. They both laugh with joy and relief.
Getting to that moment was a journey that began not long after an outwardly healthy Francesca was born at Toronto’s Mount Sinai hospital.
Her case was caught during a pilot program that drew on two existing, but separate, screening programs for newborns: The Infant Hearing Program, which screens for hearing loss, and Newborn Screening Ontario, which co-ordinates the testing of heel-prick blood samples for more than 25 different diseases.
Until last year, Newborn Screening Ontario did not regularly test for congenital CMV.
Most of the time, cytomegalovirus is no more dangerous than the common cold. But if a pregnant woman catches the virus through saliva or other bodily fluids and passes it on to her baby in utero, CMV infection can sometimes cause serious health problems. Symptoms range from the obvious – a small head, jaundice or a telltale rash – to the invisible, such as mild hearing loss that worsens over time.
If cCMV infection is identified quickly – ideally within the first four weeks of life – babies can be offered antivirals that work better the earlier they are started. Doctors can also monitor babies for hearing loss, which is especially important in cases where newborns with cCMV appear perfectly healthy.
“These children may, for a variety of reasons, pass their hearing screen at birth, but still be at risk,” said Jessica Dunn, medical lead for the CMV component of the new screening program and an infectious disease doctor at CHEO, a children’s health centre in Ottawa.
Dr. Dunn said that, with the exception of Ontario’s new universal program, the Canadian health-care system has generally done a poor job of catching cCMV.
One University of Alberta study published in 2014 found that, between 2005 and 2008, Canadian pediatricians reported only 49 cases of congenital CMV, or 4.5 cases for every 100,000 births – a much lower birth prevalence than would be expected based on previous studies.
“The most likely explanation for the low reporting rate is missed diagnosis,” the study, published in the journal Paediatric Child Health, found.
Hoping to remedy that, Newborn Screening Ontario modified an existing blood test to detect cCMV in the dried blood spot, obtained from the heel prick, that NSO already collected from 99 per cent of the approximately 143,000 babies born in the province every year.
Once developed, the test cost about $2 a sample.
During the pilot phase, beginning in May, 2018, parents were offered the chance to opt-in to cCMV testing only after their children failed a full hearing screening test. Once the program became universal, last July, all parents were able to opt-in to testing for cCMV and three genetic risk factors for hearing loss, even if their children passed the initial hearing screen.
Once Francesca tested positive for cCMV infection, Toronto’s Hospital for Sick Children immediately set up a day’s worth of appointments for the stunned couple and their one-month-old baby, whisking them from an infectious diseases doctor to an ear, nose and throat specialist and on to the audiology department.
“I was crying all day,” Ms. Tirabasso said. But she also found reason for hope. Dr. Cushing told Ms. Tirabasso and Mr. Jones that the health system had a “toolbox,” full of ways to help Francesca.
With guidance from 11 different types of doctors and health-care workers, including an auditory verbal therapist, an occupational therapist, a family support worker and an in-home teacher, Francesca, now 18 months old, can sing her alphabet, count, make animal sounds and mimic her parents as they read to her.
“Do you want to read?” Ms. Tirabasso asked her daughter on a recent afternoon, holding up a board book titled Little Blue Truck.
“Read!” Francesca replied. As Little Blue Truck drove around his farm, Francesca repeated his signature sound, “Beep beep!” and quacked, neighed and mooed along with the animals. “All done!” Francesca said as she shut the book.
Softly, she called out for “Papa!” then switched to Mr. Jones’s lap. He read the opening of a Dr. Seuss book. “One fish, two fish, red fish, blue fish, black fish, blue fish, old fish …” Francesca interjected, “new fish.”
“You’ve never said that before,” Mr. Jones said, clearly tickled.
To get Francesca to this point, where she comprehends words and speaks as well as any hearing toddler, has taken an all-encompassing effort by Ms. Tirabasso, a lawyer, and Mr. Jones, a product manager for a medical-device company.
They talk to Francesca constantly, narrating as they serve her tomatoes and cheese for dinner in their apartment north of downtown Toronto. Taped to the walls of the apartment are notes with tips from a language therapist: “6 sounds everyday e, a, ouu, mmm, siii, shh; use word ‘sandwiches’; Don’t feed her with full plate. Empty plate + ask her what she wants.”
When Francesca was younger, they hid around corners and rang bells, banged wooden spoons against pots and softly shook rice inside Tupperware containers, watching to see if Francesca could follow the source of the sounds.
If not for the small gadgets above Francesca’s ears, you might never guess that, when the external portion of the cochlear devices are removed for bath or bedtime, Francesca can’t hear at all.
Marlene Bagatto, an audiology professor and researcher at University of Western Ontario who chairs the Canadian Infant Hearing Task Force, said all Canadian children with hearing loss deserve the kind of early intervention that has helped Francesca to develop language. “The best chance you have for developing spoken language really well is up to age two. Earlier is better,” she says.
The task force’s 2019 report card on Canadian early hearing detection and intervention programs rated only Alberta, British Columbia, Northwest Territories, Nova Scotia, Ontario and Yukon as having programs “sufficient” to identify hearing loss in babies and intervene to improve their odds of developing language. And only Ontario offers universal screening for cCMV. "It’s not okay for babies in this country,” Dr. Bagatto said.
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