Two-year-old Olivia Gillies was born with a potentially life-threatening condition that caused her tongue to grow uncontrollably. Now, after her third surgery, she can finally smile, and doctors believe the dangerous symptom of her condition is under control.
Gillies was born with Beckwith-Wiedemann Syndrome, a genetic condition that can cause, among other symptoms, “overgrowth,” of a particular body part, including the spleen, liver, adrenal glands, and tongue.
An ultrascan revealed abnormalities when Olivia’s mother, Emma, was seven months pregnant with Olivia, the Daily Mail reported. The scan showed Olivia had an abnormally large tongue. Eventually, she was diagnosed with Beckwith-Wiedemann Syndrome.
“It felt like somebody had dropped a bomb,” Gillies told The Daily Mail about her daughter’s diagnosis. “We were warned her tongue would be up to three times the size of a usual newborn baby and would keep growing. Nobody could tell us how big it would get. We were terrified.”
Beckwith-Wiedemann Syndrome occur due to a number of genetic causes, most commonly problems with chromosome 11: either a genetic “switch” in that chromosome is turned off, affecting a gene that is supposed to suppress cell growth, or because the newborn receives two chromosome 11s from the father, and none from the mother.
It can manifest in several ways, including overgrowth of a particular body part or parts, low blood sugar, and omphalocele, a birth defect in which the infant’s abdominal organs stick out of the belly button and are covered with a thin membrane, Dr. Debrosse, a clinical geneticist at with UH Case Medical Center in Cleveland, Ohio, told ABC News. Babies with Beckwith-Wiedemann Syndrome are also often born early.
Gillies was scheduled to have a Caesarean section at 38 weeks, but went into labor early, and Olivia was born after an emergency operation on March 3, 2010, according to the Daily Mail.
Olivia’s tongue was oversized and protruding from her mouth when she was born, and she had to be tube fed because she couldn’t latch onto her mother’s breast to breast-feed. She was kept in the hospital for six weeks after she was born.
Her tongue continued to grow, eventually becoming so large that it made it difficult to breath. She had to be readmitted to the hospital for a tracheotomy – a surgery which would cut a hole into her neck to aid her breathing.
“I was distraught. Seeing her every day, we just hadn’t noticed how much it had grown,” Gillies told The Daily Mail. “To be told her life was at risk because he tongue was so big was devastating.”
Eventually, her breathing stabilized enough that she could undergo surgery to reduce the size of her tongue, when she was just six months old. Four months after that surgery, she went back home, and her father became her full-time care-taker, the Daily Mail reports.
However, her tongue continued to grow, and she had to undergo another operation just seven months after the first surgery. After a third, and her parents hope, final, surgery, Olivia’s tongue appears to have stopped growing, and the two-year-old is finally able to smile, and is learning to eat and talk.
The Gillies have four other children, none of whom have Beckwith-Wiedemann. The syndrome can be passed genetically from parents to their children, but it is more often a genetic change that occurs for the first time in the newborn. The chance of it recurring in other children within a family depends on what the genetic cause is.
“That’s why genetic testing Is so important,” Debrosse said. “So parents can know why their child was born with the syndrome if they plan on having other kids, and for the child, so they will know if they are likely to pass it onto any kids they may have.”
The syndrome only affects about 1 in 13,700 children, although Debrosse said the condition might be under-diagnosed because not all children will show all the possible symptoms.
Children with Beckwith-Wiedemann syndrome also have an increased risk of certain pediatric cancers, so regular screening for common cancers is a mainstay of their long-term treatment, Debrosse said.
Because Beckwith-Wiedemann is a genetic condition, there is no cure for it. However, children with the condition can live long, healthy lives by treating individual symptoms of the condition. That includes regular cancer screenings, low blood sugar treatments, and possibly reconstructive surgery.