Randy and Caroline Gold are the founders of JScreen, a genetic screening service for Jewish Genetic Diseases. They started the program after their daughter, Eden, was diagnosed with Mucolipidosis Type IV: a degenerative disease with devastating effects. Three years after our original interview, we checked back in to see how they—and Eden—are doing, and to learn more about JScreen.
Three years have passed since we first interviewed you about your then-3-year-old daughter Eden and her genetic disease, Mucolipidosis Type IV. Can you fill us in on how she’s doing now?
Eden is really an amazing little girl. Doctors say that children with ML4 will never learn to walk, never learn to talk, will have a maximum mental capacity of about 18 months, will go blind by the time they are 12, and will only live until early adulthood. Eden has a tough prognosis, and she is the hardest worker you have ever seen. She has 15 hours of therapy each week: everything from physical therapy to speech and occupational therapy, and also hippotherapy. She has very low muscle tone, so she isn’t yet able to stand on her own, but we are hoping she will get there. She has a delayed swallow reflex and doesn’t chew properly, so meals can be tricky. We have had to perform the Heimlich maneuver on her at least 10 times because she was choking. It is very scary.
She absolutely loves music, going to school and synagogue, and loves when we read to her. Though she doesn’t speak, she has a few sounds and her own version of sign language that helps her communicate what she wants. She has a way of getting her point across when she likes or doesn’t like something. She has a great sense of humor and the most wonderful giggle you have ever heard. Eden really is a happy little girl.
Last time we spoke, you had started Jewish Gene Screen, a local screening program for families in Atlanta. How did this morph into the national non-profit, JScreen?
We began with a vision of preventing Jewish Genetic Diseases on a global level. We started with a few different pilot initiatives that were very successful, one of which was Jewish Gene Screen. We knew that to succeed, screening had to be accessible and affordable.
What we learned through our pilot program in Atlanta was that doctors and rabbis needed to be educated, but that it was young singles, young couples, parents, and grandparents who would turn screening into a Jewish communal issue and make screening for Jewish Genetic Diseases commonplace. Jewish Gene Screen required a blood test, and our hope was that soon science would catch up to our vision of a saliva-based test.
In 2011, Dr. Paul Fernhoff, our friend, encourager, and partner–who actually diagnosed Eden–sat at our dining room table and said we are going to make a spit test happen. He knew our genetics, so we were his test subjects, and he sat with us one night as we spit in test tubes. Sadly, Dr. Fernhoff passed away later that year and didn’t get to see the fruits of his labor, but today JScreen is screening thousands of people across the country.
Walk us through how a JScreen kit works. How long does it take to use, and how long does it take to get back results?
It’s the easiest test you could ever take. All you have to do is log on to www.JScreen.org and enter your information. JScreen will send you a kit in the mail. Spit in the cup, mail it back in the pre-addressed envelope, and a genetics counselor will call you in 3-4 weeks with your results. It’s really that simple.
How are you bracing for the progression of your daughter’s disease?
That’s a tough one. We think about it every day, and if we allow ourselves to think too much about it we end up paralyzed with sadness. ML4 is a neurodegenerative disease, and we know that Eden’s retinas will also degenerate to the point of blindness. We try to give Eden every possible opportunity for therapy and activities, so that she can learn as much as possible now.
We also take a very active role in medical research on ML4 to try to find a cure. Randy is the president of the ML4 Foundation, and our Executive Director, Rebecca Oberman, works with scientists every single day. Because of Rebecca’s work, we have made huge progress in the last two years, and we are close to testing a drug that we think may slow the progression of her disease. We don’t have our heads in the sand about the fact that one day we might lose a child, but at the same time we have to focus on Eden: what we can do for her, enjoying her, and helping her and other children with ML4 the best we can.
Eden has an older brother and a younger sister–how old are they and how do you talk to them about Eden’s genetic disease?
Eden has an older brother, Natanel, who is 7 years old, and a younger sister, Shai, who is 3. We really don’t talk to them much about Eden’s disease. Natanel is old enough to know that Eden has ML4 and he used to ask us when Eden would be able to walk. Now he sees how involved we are in creating JScreen and raising money for ML4, and he wants to be part of her cure. Natanel and his friends in the neighborhood have set up lemonade stands so that they could give money of their own to help. Shai is a sweet but bossy 3-year-old who likes to tell Eden to sit up, because she hears us constantly encouraging Eden to do the same. Just like any other younger sister, Shai likes to take her older sister’s toys and gets mad when Eden tries to take something away from her.
For Natanel and Shai, Eden is their sister, and this is their normal life. It’s what they know. Their friends know and love Eden, and when a new friend is over, Natanel might introduce the friend to Eden by saying, “This is my sister Eden, she has a disease,” and keep on walking as if it is no big deal. There are times when I know it is hard for them, and at the same time they love each other so much that all three of them sleep in the same bed every night. They love to be together and it is really beautiful to see.
What’s next for JScreen? How do you measure success?
JScreen recently created the first-ever comprehensive panel of 86 diseases that are common in the Ashkenazi, Sephardi, and Persian Jewish communities as well as a group of diseases that are common in the Caucasian community. We are the only Jewish Genetic Disease screening organization in the world that is providing a screen that is this comprehensive. Regardless of your Jewish ancestry, JScreen helps make sure your children can be free of Jewish Genetic Diseases.
Measuring success is easy. The practical answer is the more people we screen, the more lives we save. We are finding that 1 in 3 Jews is a carrier of at least one of the diseases for which we screen. Statistics show that 1 in 100 Jewish couples carry the same genetic mutation and risk having a child with that genetic disease, so screening is key. With every pregnancy, if the husband and wife carry the same mutation, there is a 25% chance of having a child with that disease.
But the most touching measure of success is in the stories of families that have had healthy children because they were screened through JScreen. Recently I spoke at an event for the AEPi fraternity, and after my talk a man came up to me in tears, barely able to get the words out. He said, “Because of you, I have a healthy grandchild.” I cried right along with him, because that is exactly why we started JScreen. Those stories are what keep us going, and since Eden is saving lives every single day, the success is hers.
Now that you have six years of experience, do you have any advice for parents who have recently learned of a child’s genetic disease diagnosis?
When the voice on the other side of the phone said, “I’m sorry, but your daughter has Mucolipidosis Type IV,” our lives were shattered. Every dream we had for Eden was gone in an instant. My advice is to embrace the continuous cycle of emotion that goes from anger and fear to grief and sadness, and at the same time, keep your chin up. This is nothing to be ashamed of. You didn’t do anything wrong. Allow yourself to be surrounded by the friends who love you and want to support you. They will understand that sometimes you just want to be alone, but at the right time, they will also push you to let them in.
We are lucky to have an amazing support group of not just our parents and siblings, but the most loyal and caring friends we could hope for. We live in a community that has embraced us and Eden and shown us love and support. You cannot do this alone. Allow people in, and you will be glad you did.