TORONTO — Like any couple tying the knot, Caroline and Randy Gold had a long to-do list before walking down the aisle. Aside from the typical items, it included one that is particular to Ashkenazi Jews: genetic testing.
With one in five a carrier of Jewish genetic diseases, the couple decided to asking their doctors for comprehensive screenings. Randy got tested for two diseases, Caroline for eight. What the doctors missed would soon prove life-changing.
They had a healthy boy, Nathaniel, in 2006, and then a second child, Eden, two years later. But shortly after their beautiful daughter’s arrival, something didn’t seem quite right. She wasn’t meeting her milestones, wasn’t rolling over, couldn’t sit up and her eyes were crossed. Their pediatrician reassured them, but parents have a sense about these things.
A few months later, the Golds met with a neurologist who did an MRI and called them later that night with the results. “We knew when the phone rang at 9:30, it wasn’t good,” recalls Caroline, repeating the specialist’s words as though spoken yesterday, “I don’t know what it is,” he said, “but it’s really bad and you guys need to be prepared for the worst.”
A geneticist conducted further tests but found nothing. He then suggested they do one more, for a rare Jewish genetic disease. The Golds dismissed it at first, assuring the doctor they’d already been screened. No matter. On Aug. 25, 2009, Eden was formally diagnosed with mucolipidosis Type 4 (ML4), a progressive and debilitating neurological disorder beginning in infancy with various symptoms, such as muscle weakness, intellectual disabilities and retinal degeneration, and resulting in a shortened lifespan.
The news was gut-wrenching. “All our hopes and dreams for our girl flashed in front of our eyes,” says Randy. “We spent a month or two trying to figure out what to do with the rest of our lives.”
It would prove a seminal moment. For what they would choose to do next would not only affect their world, it would prove transformative on a much grander scale.
While many couples similarly challenged, understandably succumb to feelings of helplessness, the Golds were moved by something else entirely: a sense of duty. “We decided we had a responsibility that allowed us – required us even – to make sure that this didn’t happen to another family,” states Randy emphatically, his voice rising with emotion.
He and Caroline thought they were “covered” when they elected to be screened. They did the right thing, acted responsibly. Problem was, their doctors didn’t know enough about testing. And it’s actually a common, way too common, story. If they were knowledgeable – and very few are unfortunately – they’d have known to test for all Jewish genetic diseases, a number that is ever-growing. They would also have advised the Golds to update their tests, even after having their first healthy child. Sound extreme? Consider this: there are currently 19 known Jewish genetic diseases. The year Caroline and Randy married, it was 16. Two years before that, it was even fewer.
The Golds realized a desperate need for education existed. So, with funding from the Marcus Foundation in Atlanta and professional support from the Victor Center for Jewish Genetic Diseases in Philadelphia, the Golds founded Jewish Gene Screen, an organization that creates awareness about genetic screening among doctors, rabbis and the community at large, as well as offering screening and counselling year-round.
Randy is also busy on the speaker’s circuit, imploring communities and their leaders to take control of their health care. “Jewish genetic diseases is an issue we can absolutely solve, if everyone works together,” he says.
Having just completed its pilot year, the organization – currently based in the Golds’ hometown of Atlanta – is about to spread its wings across the United States and beyond. And if year one is any indication – screenings increased by more than 400 per cent and test fees were reduced from $5,000 to $500 – the Golds’ mission is well on its way.
Their efforts are not going unnoticed. Randy recently became a Jewish Community Hero, a title given by Jewish Federations of North America to honour people who make a difference in their communities. But, even more importantly, the couple is winning over hearts and minds as their public commitment, born of personal pain, is fuelling change as yet unforeseen.
For Caroline, inaction was simply unthinkable. Turning four in January, Eden is now in preschool, has a full-time special-needs therapist and is receiving a host of therapy treatments, including physical, occupation, speech and vision. The road ahead will be challenging.
“If I ever knew that it happened to someone else because they weren’t properly educated, I would not be able to live with myself,” says Caroline. And besides, “we didn’t want Eden’s life to be in vain,” she adds. “It’s actually Eden who’s saving lives, and if that’s her purpose, there’s no more noble a life.”
For more information, visit www.jewishgenescreen.org and www.ml4.org.