Rebecca and Kent Fraser were not prepared for all of the information they received just hours after the birth of their second daughter, Ella, in the summer of 2016.
As they adjusted to the unexpected fact that Ella was born with Down syndrome, it was more than they could take in to hear that their beautiful new baby faced heightened risks of such complications as heart defects, vision loss, spinal problems and leukemia.
“It was a blur,” says Rebecca. “The birth had gone really quickly—she was born at home before the midwife even arrived—and then we were hearing she had Down syndrome and what all the consequences might be.”
As they settled in with their new baby, the couple learned as much as they could about Down syndrome—also known as Trisomy 21—a genetic disorder in which the child is born with an extra copy of the 21st chromosome. They found a wealth of knowledge and support in the Nova Scotia Down Syndrome Society.
“In the beginning, my ignorance translated into fear, because I didn’t know what to expect and there are so many potential health issues,” recalls Kent. “The positive support from the Down syndrome community was very reassuring, as was the thorough medical monitoring Ella received.”
The Frasers did not have long to bask in the glow of their new daughter’s bright and engaging personality. In the summer of 2017, Ella’s one-year bloodwork revealed low levels of iron.
“We’re vegetarian so we thought it might be that and began feeding her as many iron-rich foods as possible,” Rebecca says. “We thought the problem would be fixed but when the results of the re-test came in, her iron was critically low.”
Thus began the family’s journey with childhood leukemia. As they’d been warned, children with Down syndrome face a lifetime leukemia risk 20 times that of the general population. Further tests revealed that Ella had a version of leukemia unique to very young children with Down syndrome, known as DS AML (Down Syndrome Acute Myelogenous Leukemia).
As they faced this terrifying new prospect, the Frasers were relieved to meet Dr. Jason Berman, a pediatric hematologist-oncologist at Dalhousie Medical School and the IWK Health Centre, and a leading AML researcher.
“It was amazing because in walks this rock star oncologist and tells us he is chairing an international study in kids with Down syndrome AML,” says Kent. “We felt so much better after we did some research on Dr. Berman and saw all the high-level studies and publications with his name on them.”
The Frasers agreed to take part in the study. It is the first-ever clinical trial to tailor treatment to match the response to treatment in DS AML, so that children with better responses receive less intense treatment.
“While children with Down syndrome are more likely to develop AML, the disease behaves differently in these children and they respond better to chemotherapy than children without Down syndrome, although the side effects can be worse,” says Dr. Berman. “This study assesses children’s response to the first round of chemotherapy and sorts them into two groups—those who respond well receive less-intense therapy, while those who don’t respond as well receive a stepped-up treatment protocol.”
Fortunately, Ella responded well to the first round of chemotherapy and was put in the group to receive five less intensive rounds of chemo, eliminating high-dose cytarabine from her treatment regimen.
“We could see the difference compared to the other kids with leukemia we would see at the hospital,” says Rebecca, noting that she and Kent took shifts living the better part of six months at the IWK Health Centre with Ella. “Kids on standard treatment protocols had fevers and infections, extreme light sensitivity, feeding tubes… Ella had very few problems, just a little less energy and appetite, and she didn’t lose her hair until after the last round.”
In fact, Ella did so well on the study protocol, she and her parents were able to take short leaves from the hospital between rounds of chemo. This allowed brief but welcome returns to normal for the family—in particular, older sister Marin, who thrived on having her whole family home and together for days at a time.
Ella rang the bell marking her last chemo treatment on June 29, 2018. She is in full remission, with as much as a 90 per cent chance—or more—of a complete and permanent cure.
Now, the Frasers are giving back by supporting Dalhousie Medical Research Foundation’s 2018-19 Molly Appeal, which is raising funds for cell-analysis equipment and a genome informatics training program that will accelerate Dr. Berman’s work to better understand and treat DS AML and many other forms of blood cancer.
Ella is thriving now, thanks to prompt diagnosis and the gentle yet effective treatment she received on the clinical trial, and she and her parents and sister can focus on creating happy times together.