An Altered Perspective

June 29, 2015
JScreen

by Meredith Cohen

When Karen Grinzaid introduced JScreen in an announcement at High Holiday services at Congregation Or Hadash in 2013, my mom was interested immediately and was the first person to contact her for more information. Within a couple of days, my brother and I registered online and our screening kits were later mailed to us. This was over two years ago and I was 18 at the time, the youngest age JScreen recommends for testing. Honestly, I was indifferent to the program’s mission and to this saliva test’s true meaning: one, because I was too busy socializing with my friends outside of the sanctuary during the informative introduction to JScreen; two, because I did not research the initiative on my own; and three, because I thought the risk of carrying a genetic disease was out of the question and inapplicable to my life. But, naturally, I went along with my protective mother’s direction and got screened. My results came back negative, meaning that I was not identified as a carrier for any of the diseases screened for. And it was as easy as that– I never stopped to wonder or think “What are these diseases?” or “What do people do when they test positive?” and carried on with my freshman year of college.

Little did I know that I would intern at JScreen for three weeks as part of my summer internship with The Marcus Foundation two years later. I arrived at JScreen with an open attitude, eager to learn and explore this project. The most pivotal moment of my experience at this organization was meeting with Caroline Gold and her daughter Eden, who was the inspiration for JScreen. For those who do not know the story, Eden has a progressive neurological disorder called Mucolipidosis Type IV, also known as ML4, a rare genetic disease common among Ashkenazi Jews. Most affected children are never able to talk or walk, have a mental capacity of about 18 months and go blind by age 12. Although the Golds were screened before they got married, their doctors did not test them for all possible diseases, including ML4. Hearing the Golds’ story in person from Caroline’s angle was moving. She explained how life did not stop after Eden’s diagnosis and how her story helps to save other people’s lives. Furthermore, she stressed how diseases like ML4 are completely preventable in children and that screening is an easy and essential process for couples in planning healthy families. The worst part, she said, is seeing Eden suffer, and no family wants to see their child suffer.

It’s amazing how something so seemingly unimportant at one stage in my life can morph into a completely significant and relevant cause at a later phase. Although I am not planning on getting married or having kids any time soon, I have realized the importance of genetic screening, which is why I am choosing to get retested through JScreen’s updated sequencing panel, which covers more diseases in more detail than the initial genotype test used when the program first started. College students and people in their 20’s, like me, need to take ownership of their futures because they will be starting families in a few years’ time. The thought of genetic diseases is scary, but it is better to take responsibility, get screened and know your carrier status early on. JScreen is an outlet for empowerment and proactivity, and I encourage people to take advantage of this incredible resource and be in control of their lives.

JScreen

JScreen is a non-profit, community-based public health initiative dedicated to preventing Jewish genetic diseases. Headquartered in Atlanta at Emory University School of Medicine, the JScreen initiative is a collaboration among clinical geneticists, socially minded businesses, and nonprofits to provide everyday people with a ready access point to cutting-edge genetic testing technology, patient education, and genetic counseling services.