Caroline Gold calls out to her three children as she takes pizza bagels out of the oven. Shai, 18 months old, runs to her high chair chanting, "Pizza, pizza!" Natanel, 7, comes in from another room in their Atlanta home.
They join their sister, Eden, who is already at the table.
Randy Gold sits down next to his son while Caroline puts food on everyone's plates. They seem like the quintessential family, in what could be any household in America.
But a closer look reveals Caroline is feeding 5-year-old Eden. Eden cannot talk or walk. She needs help sitting up and doing most anything a girl her age should be doing on her own.
Eden has a progressive neurological disorder called Mucolipidosis Type IV, also known as ML4. It's a rare genetic disease that is more common among Ashkenazi Jews, or people of Eastern and Central European Jewish descent. There is no treatment or cure. Eden's mental development was halted at 18 months old. She is expected to go blind by age 12.
Doctors say she will not live beyond early adulthood.
Eden's diagnosis was confirmed just before the Jewish New Year in September 2009. Instead of focusing on the wonderful things the next year would bring, Caroline says their family's dreams were shattered.
"Anything that we had dreamed and hoped for our family at that point was broken. Done."
ML4 is preventable. So how did this happen?
Caroline and Randy struggled with that very question. Knowing that one in five Ashkenazi Jews in the United States are carriers for a genetic disease, the Golds were screened before they got married. Or so they thought.
Caroline was screened for just eight of the 16 Jewish genetic diseases that were being screened for in 2004. Randy was screened for two. Proponents for standardized screening say it could have spared or prepared the Golds for what they are going through with Eden.
Screening assesses a couple's reproductive risk, says Karen Arnovitz Grinzaid, a genetic counselor at Emory University School of Medicine in Atlanta. Couples who are both carriers for the same disease have a 25 percent chance of passing that disease onto their children.
Many of these disorders are fatal, says Dr. Stephen Warren, the chair of the department of human genetics at Emory, and they can severely impact patients' quality of life.
A bright future
When Randy and Caroline met, their love blossomed quickly. They dated for eight months before getting engaged and were married three months later. They didn't waste time starting a family either. Fifteen months after their walk down the aisle, they welcomed Natanel into their lives. The Golds, now a family, were living the dream.
That dream included a bigger family; Eden was born two years later.
But when Eden was just 3 months old, Caroline started wondering whether something was wrong with her precious little girl. She couldn't quite put her finger on it. At first Eden didn't seem to be meeting her milestones on time. Then they noticed she had low muscle tone. At 9 months, Eden started physical therapy and had surgery to correct her crossed eyes. Doctors hoped she'd have a better view of the world and everything else would fall into place.
The pediatrician continued to reassure Caroline that every child develops at her own rate. At one point, Caroline was even told she should stop comparing her second child to her first and just enjoy her daughter.
"We finally decided that being told, 'She's gonna be fine' or 'Not to worry so much' just wasn't enough," Caroline remembers.
Against their pediatrician's advice, they took Eden to a neurologist who did an MRI on her brain. Caroline and Randy hold back tears as they remember the phone call from the neurologist at 9:30 p.m. He didn't know what was wrong with their daughter, he said, but it wasn't good.
"It was more than a sad moment," Randy says. "It was the beginning of what became a lot of sad moments."
The neurologist ran more tests before referring Eden to a geneticist. The geneticist thought it might be a Jewish genetic disease, but the Golds told him they had been screened.
Still, when he described ML4, Randy remembers thinking he had just described Eden. They waited two agonizing weeks for the lab to confirm the diagnosis.
Until screening is routine
As difficult as it was to hear the news about Eden, the Golds never ask, "Why us?"