Our Daughter's Jewish Genetic Disease
We've interviewed Randy and Caroline Gold, whose daughter suffers from a rare genetic disease
Randy and Caroline Gold's daughter, Eden, was born with a Jewish genetic disease called Mucolipidosis Type IV, or ML4. It's a horrific disease with a limited life expectancy, and most affected children are never able to talk or walk, have a mental capacity of about 18 months, and go blind by age 12. Kveller interviewed Randy and Caroline by phone at their home in Atlanta, Geogia. Eden is now 3.
Before you were even thinking about kids, did you think about Jewish genetic diseases? Did you know anything about them?
Randy: For sure. Both of us are connected in the Jewish community and have been active in our synagogue, local Federation, and other organizations. We knew there was something about testing for Jewish Genetic Diseases that we needed to do. So before we got married, we both asked our doctors to test us.
Both of our doctors tested us for "all the Jewish Genetic Diseases," and based on those results we didn't think we were carriers for any of the same genetic mutations that cause these diseases.
As it turns out, our doctors didn't know what they should be screening us for. And both of our doctors were Jewish! My doctor tested me for two random diseases. Caroline's doctor for only eight diseases. At the time, there were 16 diseases that we should have been screened for. Today there are 19.
When did you discover that your daughter had Mucolipidosis Type 4 (ML4)? How did you learn this information?
Caroline: We knew from early on that something wasn't right with Eden. Every time we took her to the pediatrician we'd tell the doctor that Eden wasn't meeting milestones. Our pediatrician told us that we were comparing her to our son, and not to worry, that children develop at different rates.
The process of determining the cause of Eden's symptoms was long. At 4 months she was diagnosed with low muscle tone. At 5 months, her eyes were crossing, which led to a surgery at 9 months. Our pediatrician kept saying that these were just little things, but we knew something was wrong. We took her to a neurologist for a battery of tests, including an MRI. The neurologist called us that night at 9:30pm to tell us that he didn't know what was wrong, but based on the way Eden's brain looked, we should brace ourselves for something really horrible.
He referred us to a geneticist, who asked whether we'd been tested for Jewish Genetic Diseases. The geneticist suggested we be tested for a very rare disease that had all of the symptoms Eden displayed. We waited two grueling weeks for the tests results hoping against hope that this test would be normal too, but we knew in our hearts that this was it. When Eden was 18 months old, we got the diagnosis: ML4.
How did you feel when you learned Eden's ML4 diagnosis? What did you do next?
Caroline: Everything that we dreamed of was ripped away from us. We went through phases of anger, sadness, grief. But my daughter is here and she's beautiful and I can't look backwards.
Randy: We were angry at doctors for not doing what they really should have done. We were angry at rabbis for not knowing to counsel us to make sure we were tested for all of the diseases. We were angry at God, but we never once said "why us?" But when we thought we did everything right, it just doesn't seem like this was how it should end up.
What did we do next? A lot of crying. We tried to figure out what it meant for us for the rest of our lives. We sat down and started drafting what became our mantra, or rules to live by as it relates to Eden and our situation.
In midst of everything, we quickly realized that we have a unique responsibility to solve the problem of Jewish Genetic Disease. We decided that we might not be able to save our daughter, but we could save the rest of the world on this issue. We started talking to doctors, rabbis, organizations, and we founded Jewish Gene Screen with funding from The Marcus Foundation. No one has really ever created a comprehensive program the way we are approaching it. We created a program that educates doctors, rabbis, and young couples. We lobby insurance companies and laboratories to create a new standard of screening for Jewish Genetic Diseases. We know that in Atlanta alone testing for all 19 Jewish Genetic Diseases is up over 400%.
What would you tell a young Jewish couple looking for information about Jewish Genetic Disease?
Randy: Make sure you are tested for all 19 currently known preventable Jewish Genetic Diseases. It's true that if one of the partners is tested and is not a carrier for anything, then the other person doesn't need to be tested. But I believe that both should be tested because there's an error rate with all medical tests, and you can significantly reduce the error rate by both getting tested.
Caroline: Just add this to the to-do list before you get married. Wedding planning has lots of lists. This is a really simple thing to add. You need to know the information before you start having kids and the obvious time for that is before you are married.
If you are both carriers for the same disease you can then take the appropriate steps to have healthy children of your very own.
Randy: The point is that through our tragedy, we can save lives. This is a legacy that Caroline and I never thought we would leave. But if our legacy is helping to change the landscape of Jewish genetic diseases, then I think Eden has no more noble a life.
A couple can log onto www.jewishgenescreen.org or www.victorcenters.org, print the list of 19 known preventable diseases, take the list to their doctors and ask to be tested for those diseases. If the doctor has any questions, he or she should call The Victor Centers' information line.