A man approached me, eyes glistening with tears.
“My grandchild is healthy today, because of you,” he shared.
In an instant my eyes filled.
“It’s not because of me,” I replied. “It’s because of Eden.”
“These are the stories that keep us going,” Randy Gold says.
Imagine the colossal impact of saving lives every single day. Few occupations are more sublime. Yet one heroine accomplishing this feat never attended medical school. Eight-year-old Eden Gold, daughter of Randy and Caroline Gold, has a unique, heaven-sent mission. Afflicted by ML4, or mucolipidosis type IV, Eden is the catalyst for the creation of JScreen, an organization that screens for over 100 genetic diseases affecting the Ashkenazi, Sephardic, Persian and Caucasian communities – all in one test.
Before Caroline and Randy got married, they were screened by their doctors for Jewish genetic diseases. Based on the results, they were confident that they were not carriers for any of the same genetic mutations that cause these diseases. Natanel, their first child, was a beautiful, healthy baby boy. Shortly after their second child, Eden, was born, the Golds knew something was wrong.
At four months, Eden was diagnosed with low muscle tone, and at five months her eyes were crossing, leading to corrective surgery when she was nine months old. Their pediatrician allayed their concerns, assuring them that these were just small humps. But their parents’ hearts intuited otherwise, impelling them to schedule an appointment with a neurologist. Based on Eden’s alarming brain scan results, the neurologist referred them to a geneticist. Two grueling months of waiting, hoping, and praying preceded the diagnosis of ML4. And Randy and Caroline learned the devastating ramifications. ML4 is a catastrophic disease and those who have it have a limited life expectancy. Most affected children will never talk or walk, have a mental capacity of about eighteen months, and go blind by the age of twelve.
Anger. Sadness. Grief. Hopes and dreams shattered. Why, they wondered, hadn’t their doctors or rabbis made certain that they were screened for all of the diseases they were at an increased risk of carrying? Yet in the midst of their staggering grief, a light began to shine; they realized they had a responsibility. Not only did they want to care for Eden in the best way possible, they were also filled with a sense of urgent responsibility to prevent others from going through this tragedy. With strength and determination, the Golds established JScreen, and are awed at and grateful for its resounding success.
JScreen is unique in its comprehensive approach, and the Golds have made it easy and accessible. All you have to do is log onto www.JScreen.org and enter your information. JScreen will then send a kit in the mail. It is a saliva-based test: you spit into a cup and mail it back in the pre-addressed envelope. A genetics counselor will call in three to four weeks with results.
JScreen received funding from the Marcus Foundation and is able to keep its prices affordable, whether or not a person has medical insurance.
Once people know that they are carriers, they can make informed reproductive decisions, and still have healthy children of their own, even if both members of the couple carry the same mutation.
“We now know that everyone in the world has some genetic mutation. Why should it be a stigma?” Randy wonders. “I’m a normal, happy, healthy guy, and there’s nothing wrong with me or anyone else who is a carrier. Just be informed. Knowledge is empowering. One out of every three people we test is a carrier for at least one Jewish genetic disease for which we screen. One out of 100 Jewish couples carry the same mutation and have a 25% risk of having a child with that genetic disease. We screen thousands of couples a year in every state in the country. When we think of the number of potential lives saved and the number of generations preserved, it’s an exponential number. At a February Yeshiva University sefarim sale, JScreen screened 1,162 people! That took place in just one weekend,” Randy says, palpable amazement in his voice.