Every other week, 13-year-old Emma Grunstein spends 90 minutes at a doctor’s office receiving intravenous infusions that keep her alive and well. She is one of 5,000 Americans living with Gaucher disease, an estimated 90 percent of whom are Ashkenazi Jews.
Her parents, Richard and Randi Grunstein of Mahwah, received the diagnosis when Emma was four after her pediatrician felt an enlarged spleen. Both parents have recessive Gaucher genes which, curiously, affected Emma but not her twin sister, Aerin.
Thanks to Emma’s monthly enzyme replacement therapy treatments, she is a healthy seventh-grader at the Eric Smith Middle School in Ramsey who aspires to become a doctor. Her ailment is incurable, but manageable.
“Her life is amazing. She is a normal 13-year-old pain in the butt. She is gorgeous and she is bright and she is thoroughly normal,” her mother told NJ Jewish News. In September the twins became b’not mitzva at Beth Haverim Shir Shalom, a Reform congregation in Mahwah.
Experts say that one way to minimize the ill effects of Gaucher is for prospective parents to be tested.
Between now and Dec. 31, people between the ages of 18 and 45, whether they are Jewish or not, can receive free screenings for Gaucher and 300 other genetic diseases. The test, which consists of analyzing saliva, is being sponsored by the National Gaucher Foundation and JScreen, a nonprofit organization that conducts education and screening programs on Jewish genetic diseases. JScreen also provides counseling for those who test positive as carriers for the diseases.
“We believe everyone in the age range should be tested,” said Amy Blum, the foundation’s chief operating officer. “It is very easy. You send away for a test tube, fill it with spit, and send it back via Federal Express.” After Dec. 31, the tests will cost $149 apiece.
It takes between three weeks and one month to complete the process. Those who test positive and their primary care physicians will be notified.
When the Grunsteins underwent genetic testing more the 13 years ago, Richard received a false negative finding so his wife wasn’t tested; when she did have the test after their daughter’s diagnosis, she was found to be a carrier.
“We had no idea we were carriers,” said Randi Grunstein. “To say we were in shock after Emma was born was an understatement. But after you get over the initial shock and you realize there is treatment available, it is not the end of the world. It could be so many other terrible things.”
In terms of screening, Blum said, “the technology is light years ahead of where it was when [the Grunsteins’] children were born.”
For the past 25 years multiple treatments have been approved by the Food and Drug Administration for Gaucher Type 1, the most common variety of the disease, especially in the Jewish community. It is generally not fatal and those who are diagnosed and treated early can live symptom-free.
Symptoms can appear at any age but usually are first noticed in childhood or adolescence. They include easy bleeding and bruising, excessive fatigue, anemia, weak bones fracturing easily, bone and joint pain, and an enlargement of the belly due to an increase in the volume of the spleen and liver. The severity of symptoms can vary widely among individuals.
After a pediatrician examined Emma and realized her spleen was enlarged, said Grunstein, “there was something very Jewish” about the way her family coped with the diagnosis.
One day, when she went to pick up her daughters from an afterschool program at Chabad Jewish Center of Northwest Bergen County in Franklin Lakes, Grunstein spoke about her daughter’s disease with Rabbi Chanoch Kaplan. “He is a man who could not touch me with his hands but he touched my soul so deeply. I told him, ‘I hate God.’ He said, ‘All right. Did you ever say you hated your parents?’ I said, ‘Yeah.’ He asked, ‘Did you get over it?’ I said, ‘Yeah.’ He said, ‘You’ll get over it.’” And, Grunstein said, her mother told her, “It could be worse.”
People who wish to be tested should go to gaucherdisease.org and navigate to the Genetic Carrier Screening page for an on-line application.