I read a very sad story today. The saddest part of the story was that it could have been prevented. You see, the story begins with two loving Jewish kids - Randy and Caroline. They had a love that blossomed very quickly after they met. They dated for 8 months, got engaged and were married 3 months later! They were truly in love and excited about beginning a family.
Their first child, Natanel, was born just 15 months after they were married. However, Randy and Caroline wanted a bigger family, so Eden was born two years later. When Eden was three months old, Caroline started to worry that something wasn't quite right. She was not advancing and hitting all of those milestones that other kids were reaching. Even though the pediatrician continued to reassure Caroline that every child develops differently, both she and Randy were concerned. So, they went to see a neurologist who did an MRI on Eden's brain. What they were told changed their lives completely. Something was wrong...so the neurologist referred them to a geneticist.
When the geneticist told Caroline and Randy he thought it was a genetic disease, they were shocked. They had been tested before they were married. However, after two agonizing weeks, the diagnosis was confirmed. Eden had ML4 - a preventable progressive neurological disorder called Mucolipidosis Type IV. Eden's mental development was halted at only 18 months old...and she is expected to be blind by the age of 12. What was more upsetting was that Caroline and Randy knew they were tested - or so they thought.
As it turned out, Caroline was only screened for 8 of the 16 Jewish genetic diseases while Randy was screened for 2. Randy and Caroline never asked, "Why us?" What they did instead was to make sure that Eden's story was told to anyone and everyone. They wanted to make sure this never happened to another family. They worked to create a comprehensive education program for doctors, rabbis and young couples. They lobbied insurance companies and medical labs to make genetic testing standard...more accessible with lower costs. Their work was inspirational - and the Marcus Foundation and Emory University School of Medicine created JScreen - a web-based national screening program for the 19 most common Jewish genetic diseases.
While JScreen is targeted at the Jewish population, the site offers expanded screening panels to check for a total of 80 genetic diseases. For those couples that are "mixed" or of different cultural backgrounds, this expanded screening panel could be very helpful. For further information - please visit www.jscreen.org. You can also contact Karen Arnovitz Grinzaid, the Senior Director for JScreen @ firstname.lastname@example.org or 404-778-8645.
Eden's Story was written by Debra Goldschmidt, as told to her by Caroline and Randy Gold for JScreen.
This is of extreme importance - if you are interested in starting a family (and really for your own knowledge), it is vital to get screened. Prevention and/or education is helpful and can prepare young couples for the future. BTW - if couples are at risk of carrying certain genetic diseases, there are ways to prepare. There are also ways to have children without the fear of passing on a genetic disease. However, the FIRST and most important thing to do is to be aware. Get tested...it's pretty simple with JScreen. Go to the website and learn all about it.
Rabbi Erin Boxt