An infant lying in a hospital bed at Victoria General Hospital was diagnosed only months ago with a progressive disease so rare, it has been identified in only about 30 people worldwide.
And it’s all because of a quirk in genetics.
When that baby’s parents, Chris and Gloria McDonald, met in 2006, they had the kind of natural rapport that signalled a life together.
During meal breaks from his job at Kerrisdale Cameras, in the Saanich Plaza, Chris would stroll over to the nearby Save-on-Foods grocery store, where Gloria was a cashier.
What the pair, who married in 2013, didn’t know is that they were bound by more than chemistry. They also shared a genetic flaw that had a one-in-four chance of causing in their child a sudden-infant-death-like disease related to a gene called Tango2.
“They won a horrible lottery,” said pediatrician Dr. Jeff Bishop, who practises at Victoria General Hospital. “It’s really profoundly bad luck to have a child with two parents that have this abnormality.”
Gloria said that when she got pregnant, she took it for granted she would have a normal, healthy child. When baby Olivia was born on Dec. 15, 2017, she thought that’s exactly what she had. For eight months, Olivia was the picture-perfect newborn. “Our beautiful baby was healthy and happy,” Chris said.
Olivia exceeded her physical and psychological milestones, had energy and was exceedingly content and happy, Gloria said.
Her parents had the luxury to indulge in typical new-parent angst — was Olivia having enough food, exercise, bowel movements?
At five months, however, they noticed Olivia’s body wasn’t keeping up; she wasn’t gaining weight. Maybe she had a fast metabolism, they told themselves.
But on July 18, Olivia wouldn’t wake up from her nap. Vomiting and unresponsive, she was taken to hospital in an ambulance.
“At that time, she was profoundly sick with multiple organs that were not working properly and needing life support,” Bishop said. “She was intubated, ventilated and resuscitated and brought into the ICU.”
The infant was dwarfed by all the machines surrounding her and tubes assisting her organs.
Pediatrician Dr. Allon Beck immediately suspected a metabolic problem and began working with the genetics teams in Victoria and the metabolic team in Vancouver.
Metabolic and genetics teams typically work with treating physicians to stabilize a patient’s bodily functions, find a diagnosis and, when possible, examine cures or treatments to reverse or halt the process.
On July 24, her condition worsening, Olivia was flown to B.C. Children’s Hospital in Vancouver.
Dr. Ramona Salvarinova-Zivkovic, a pediatrician who specializes in metabolic diseases, pored through the literature. Before the lab results even came back, she found a rare condition she believed to be the cause of Olivia’s symptoms, Bishop said.
Olivia was diagnosed with Tango2-related metabolic encephalopathy.
Tango2 is a gene carried on chromosome No. 22 that works in various cells to aid in the production of energy created by utilizing fats, proteins and carbohydrates from food. That energy is produced in what’s called the mitochondria.
If the Tango2 gene is not working properly and energy production is not completed, the toxins produced build up and cause injury to the cells they inhabit, leading to difficulty in many organs, Bishop explained.
Most people have two copies of Tango2, but Chris and Gloria have only one copy each. You only need one copy of the gene, but Olivia inherited the chromosome from each parent without the Tango2 gene.
Bishop said the Tango2 deletion was only identified a few years ago. “So it’s a small number of people around the world who have been identified as having it.”
Olivia arrived in hospital with, among other things, a toxin buildup in her brain due to an inability to produce sugar in her brain cells. That had caused her to fall unconscious.
In the days before Tango2 was identified, had Olivia died from her episode, her case would have likely been filed as a SIDS death, Bishop said.
“It hit me pretty hard,” Chris said. “I didn’t want to believe it would her time to go so soon.”
Olivia was discharged from B.C. Children’s Hospital on Aug. 3 and the family returned home to Victoria, but by the next morning, Olivia was taken back to Victoria General Hospital, hyperventilating, vomiting and barely responsive.
Now, she is a pediatric palliative-care patient, although the 10-month-old’s angelic smile belies the hell she and her parents face each day.
“It’s hard to imagine she’s so sick,” Gloria said.
On a recent Saturday in the hospital, Olivia appeared calm.
Although she can’t sit or crawl and doesn’t have the chubby limbs of a newborn, she was happily engaged with her books,
No Matter What and Dr. Seuss’s One Fish, Two Fish, Red Fish, Blue Fish. She delighted in her stuffies, including her giraffe.
Her dark eyes have an old-soul depth to them, and she seems ethereal, so delicate and light that anyone other than family might worry that to touch her would be to damage her.
Bishop said the disease is progressive, although its progress varies among people. “There are individuals who have very mild disease and have attacks of what we call encephalopathy or seizures or confusion that happen every few years.
“And then there are kids who die before a year of age because they have a rapidly progressive disease that causes injury to multiple organs and an early death.”
It’s unclear which variety Olivia has. Her parents don’t know if she will live into her 20s, as some Tango2 palliative patients, or whether she’ll see another Christmas.
“It may be that her disease is slowly progressive and she lives into early adulthood,” Bishop said. “It may be that her disease is rapidly progressive and she has a very short lifespan — and it’s nearly impossible to predict.”
Chris and Gloria live in the balance.
For three months, they have been at their daughter’s bedside every day. Gloria doesn’t leave at night, extending a hospital chair into a bed. Chris returns nightly to their rented basement suite at a Blenkinsop Road farm to look after their pug, Otis. Gloria, who is self-employed as a cleaner, can’t return to work. Chris, a service technician at Royal Rooter Plumbing, is on parental leave. They are living off employment insurance and donations.
At the hospital, they manage the permanent ports for Olivia’s intravenous and feeding tubes, and with clinical precision, they inform rotating care teams of their daughter’s needs.
The couple live with the hope that Olivia will be one of the success stories.
They have closely followed the life of Sammy Lopez, 18, of Texas, who lived a relatively normal life — in the Boy Scouts and playing football — despite being diagnosed with Tango2. They were devastated, however, when he died this week.
“It is truly amazing how Chris and Gloria work with Olivia to maximize her quality of life,” Bishop said.
About a month ago, Olivia caught a hospital-acquired hostile bacterium called Clostridium difficile, commonly called
C-difficile. The devastating and potentially deadly bacterium causes severe diarrhea, draining the patient of needed nutrition and fluids. She has yet to fully recover.
“I just hope that by hearing our story, other parents will really appreciate the healthy families they have and not take that for granted because not everyone has that opportunity. We don’t have the opportunity to have that normal happy nuclear family,” Gloria said.
Bishop marvels at the number of specialists and sub-specialists available on the Island and in Vancouver able to help the couple, but expresses concern about the lack of ongoing robust support outside the hospital. “At the end of the day, they are facing this by themselves.”
Gloria and Chris try not to let the uncertainty swallow them whole. They choose to believe Olivia’s disease will be episodic and allow her to reach all the childhood milestones they envisioned when they first fell in love and imagined a child together.
“We are so blessed to have her and are so grateful she refuses to give up her fight,” Gloria said. “We will continue to patiently wait until she is ready to come home.”
> To find out more about the fundraising effort for Olivia’s parents, who are unable to work because of their daughter’s illness, go to their fundraising page
