Atlanta Jewish Gene Screen

Eden's Story

We have made Eden's story public because we wanted to save other families from suffering this tragedy. If every prospective Jewish parent takes one simple blood test, we can make sure Eden’s story does not happen again.

In 2008, a young, Jewish couple from Atlanta gave birth to their daughter, Eden, after having a healthy baby boy two years earlier. They always wanted to grow a family together and had been educated on the need to be screened for genetic diseases affecting Jews.

Needing to know if they were carriers for one of the genetic diseases, they proactively spoke to their doctors and were screened. Sadly, that meant different things to their respective doctors and only a few tests were performed on each of them - one was screened for eight and the other for just two. At the time, there was screening available for 16 preventable, debilitating and even life-threatening genetic diseases affecting Ashkenazi Jews. Today there is screening for 19.

Every parent wants to watch their child grow and live a normal life, and that may not be possible for Eden’s parents.

Both were unknowingly carriers for Mucolipidosis Type 4 (ML4), a progressive and debilitating neurological disorder beginning in infancy with various symptoms, such as muscle weakness, intellectual disabilities, corneal clouding and retinal degeneration. Neither parent was screened for this disease, and Eden was born with ML4.

Very early on, Eden wasn’t meeting expected milestones. After months of hoping she would progress like other children, Eden’s mother made an appointment with a pediatric neurologist. After an MRI and a warning to be prepared for the worst, the family was encouraged when a battery of tests all came back healthy. Finally, a geneticist delivered Eden’s parents the devastating ML4 diagnosis.

Eden now receives 15 hours of therapy a week. She has been in and out of doctors’ offices her entire life with surgeries as early as eight months. She is progressing, but doctors say most children with ML4 never learn to walk or talk and are blind by age ten. Every parent wants to watch their child grow and live a normal life, and that may not be possible for Eden’s parents.

Eden’s parents thought they did the right thing by being screened. No one told them there were then 16 genetic diseases affecting Ashkenazi Jews for which they should be screened. No one told them that they should be screened before every pregnancy. Not their rabbi, not their Jewish physician nor their Jewish OBGYN. It is the responsibility of rabbis, doctors and patients to know what questions to ask … where to go for information … what to demand from our religious and medical communities. Knowledge empowers us as a community and as individuals.

The Atlanta Jewish Gene Screen, funded by The Marcus Foundation and spearheaded by the Victor Center for the Prevention of Jewish Genetic Diseases, gives us all the power to take the actions we need. Eden’s parents said, “We have made Eden’s story public because we wanted to save other families from suffering this preventable tragedy. No one thinks this can happen to them but it happened to us right here in Atlanta. If every prospective Jewish parent takes one simple blood test, we can make sure Eden’s story does not happen again.”

Arm yourselves, your friends and your family with the facts and take action on what we do know: There are currently 19 preventable genetic diseases affecting Ashkenazi Jews (those of eastern European descent), most of which are life threatening. There are tests for every one of them. Testing is available in Atlanta. Doctors and rabbis are being provided with the most up-to-date information so they can share it with you. The fact that Eden’s parents did everything they were told to do was not enough.