CLAYTON — A Clayton family is thankful for friends and the blessings of miracles as their 2-year-old daughter battles a rare and incurable disorder.
Olivia “Livi” Menard has Zellweger syndrome, a disorder caused by a gene mutation that affects an estimated one in 50,000 newborns. At the end of this month, she will travel to Nebraska to take part in a clinical trial.
Livi was born Feb. 9, 2011. Within the first week, she dropped 13 percent of her body weight. Her mother, Jen Menard, said she tried several infant formulas, treating the weight loss like a feeding issue because that’s what it seemed to be.
Symptoms of Zellweger syndrome can include an enlarged liver, neurological abnormalities, low muscle tone and hearing and visual impairments. Menard and her husband, Chad, carried Livi to a gastroenterologist, a neurologist and an eye doctor. Each one saw a different problem but couldn’t pinpoint the underlying cause.
Eventually, “several doctors put their heads together to finally give her a diagnosis,” Menard said.
Since then, the Menards, including big sister Lila, 5, have been taking Livi’s illness one day at a time. At 2-1/2 years old, Livi has already exceeded her doctors’ expectation. Most infants with Zellweger syndrome die within the first year.
“If we went on what they told us when she was diagnosed, she wouldn’t be here,” Menard said, referring to the expected lifespan.
The family had hope after Livi’s first birthday, when her condition appeared to stabilize. There were fewer doctor visits, and Livi was relatively healthy. But last fall, her condition suddenly worsened, and Livi had to have a feeding tube inserted.
To cope, the Menards have relied on friends and family. “We’re thankful for really great friends and supportive family,” the mother said, adding that friends have held fundraisers to help the family with medical bills.
The Menards have also found solace through other families of children who have Zellweger syndrome. In a trip arranged by the Global Foundation for Peroxisomal Disorders, the Menards traveled to Disney World with other families dealing with Zellweger.
Later this month, those 12 families will travel to Nebraska, where their children will take part in a clinical trial of a drug to offer a therapeutic benefit to children suffering from Zellweger.
Menard said she didn’t expect the trial to help Livi, but it could benefit children born later by helping doctors better understand the disease.
“Hopefully by her participating, she can make a difference for other kids who are diagnosed with this in the future,” Menard said.