"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?"
Instead, Randy says, "We decided to make sure that the tragedy of Eden's story doesn't happen to another family."
They started by creating a comprehensive education program to teach doctors, rabbis and young couples in their community about the risks. Then they lobbied insurance companies and medical labs to standardize genetic screening, make it more affordable and lower the cost.
Their work inspired the Marcus Foundation and Emory University School of Medicine to create JScreen, a Web-based national screening program for the 19 most common Jewish genetic diseases, including ML4, that launched this month. While it's targeted at the Jewish population, the site also offers an expanded screening panel to check for a total of 80 genetic diseases, which may be more appropriate for non-Jewish spouses of a Jewish carrier or for those who are unsure of their ancestry.
There's no trip to the doctor or needle needed to draw blood. People who are interested in being screened can visit JScreen.org, read about the screening test and request a kit.
A box with the saliva test is then sent to the individual's home with instructions and an envelope to return the completed kit to the lab. Approximately four weeks later, results are discussed with a genetic counselor over the phone. Additional counseling can then be scheduled with a local genetic counselor.
The kit costs $99 for most people with insurance and $599 if you are uninsured.
Unlike direct-to-consumer genetic testing, offered by companies such as 23andMe, JScreen is a nonprofit program with an educational component. Every request for screening is reviewed by a genetic counselor at Emory University before a kit is sent out to make sure that the patient fully understands what the results can (and cannot) tell them.
Warren believes genetic testing will be part of routine medical care for every potential parent in the coming years; JScreen is just the start, he says. "We are looking at this as a prototype to see how well we can do this for the general population."
Prevention is the goal, says Grinzaid, who is also the senior director of outreach initiatives for JScreen. "In every ethnic group, there are diseases ... unless you have screening, you can have an affected kid."
Carrier screening programs for Jewish genetic diseases have seen success in the past, she says; in the 1970s and '80s, the fatal condition Tay-Sachs was reduced by approximately 90 percent.
But genetics is a rapidly changing field; the human body has hundreds of thousands of genes and mutations, and new ones are being discovered.
New screening tests are also being developed quickly. When the Golds were married in 2004, screening tests were available for 16 Jewish genetic diseases. Now scientists can screen for up to 19.
The ability to make informed decisions
Warren says parents of children affected by these types of diseases overwhelmingly say they would have wanted to know before they became pregnant. Armed with the right knowledge, a couple may chose to avoid the risk by using alternative pregnancy paths, such as adoption or in vitro fertilization.
If there's a risk, a couple could also choose to have amniocentesis or CVS testing done during pregnancy to check the fetus. The results could give the parents time to plan for the birth of a baby that will need special care. Or they may choose to end the pregnancy, says Grinzaid.