Screening for Jewish genetic diseases

Screening for Jewish genetic diseases

Fair Lawn student with lipodystrophy urges others to discover their genetic makeup

Dena Winchester holds a box from JScreen, which she urges people to use to screen for genetic diseases.
Dena Winchester holds a box from JScreen, which she urges people to use to screen for genetic diseases.

Dena Winchester is a busy second-year student at Rutgers University.

This 20-year-old from Fair Lawn graduated from the Yavneh Academy in Paramus and then from Ma’ayanot High School in Teaneck. She is majoring in genetics and minoring in psychology. Seems pretty average, right?

This young woman is anything but average.

She was always thin as a child, but when she was in sixth grade, Ms. Winchester was diagnosed with lipodystrophy. The result of this genetic disorder, in a layperson’s terms, is when the body is unable to produce fat. “Luckily, the diagnosis affected little in my life healthwise, aside from the need to take injections of leptin — a hormone produced by fat cells — and some daily pills,” Ms. Winchester said. But though her insides were affected minimally, her outer appearance made others take notice. It looks as though she is suffering from anorexia.

“The most major change in my life has been the social aspect,” Ms. Winchester said. “People try to sugarcoat the idea that it’s the inside that counts, but unfortunately, appearances count for a lot. I am certain that if I were placed in an alternate, more ‘normal’ body, my social life would be easier, and my body image would be a bit more positive.

“Living with lipodystrophy, however, has given me a lot of wisdom, and has taught me how to find and utilize my strengths.”

One of these strengths was starting a blog, “The Skinny Girl,” when she was a junior in high school. “I mainly began writing it because while speaking with a friend, I discovered that after two years of friendship, she had no idea about my lipodystrophy,” Ms. Winchester said. You never meet a person and say, “Hi! I’m “Dena, and I have this medical condition that you should probably know about…

“Although I try to be an advocate for lipodystrophy and rare diseases, I am first and foremost a human being trying to survive college (and at the time, high school), and do not speak about my condition unless there is specific reason to bring it up, or if I can find a sneaky way to hint at it without drawing too much attention. The blog became a great way to speak about my experiences and becoming an advocate while maintaining my normalcy in real life.”

Though she’s a college student with limited free time and so her posts have not been as regular as they were when she was in high school, still she keeps posting.

One result of her posts is that she often receives messages from other people who also were struggling with body image or with rare diseases, including but not limited to lipodystrophy. “Many others were able to relate to my experiences, opinions, and thoughts, and I was very glad I could get the opportunity to reach people all over the world,” she said.

Her life experiences have led Ms. Winchester to major in genetics; she hopes to become a genetic counselor. Because she has been treated at the National Institutes of Health in Bethesda, MD., “my ultimate dream would be to work in a medical facility such as NIH or one just as wonderful,” she said. “But at the end of the day, I want to become a genetic counselor to help both individuals and families, and as long as I can do that, it could be at whichever facility possible.” With these goals in mind, she looked online for possible opportunities to enhance her resume, opportunities that could help “make me a great geneticist,” she said.

She happened upon JScreen.

JScreen is the most comprehensive, affordable, and accessible Jewish genetic disease screening organization in the country. Coordinated through Emory University’s Department of Human Genetics in Atlanta, Ga, JScreen tests for more than 200 diseases, including those often found in Ashkenazim, Sephardim, and Persian Jews. It has screened thousands of people in every state in the country, and it has identified hundreds of couples who share a mutation and therefore might be at risk of having a child with a Jewish genetic disease.

Ms. Winchester thought that bringing JScreen to her college campus was ideal. “Rutgers has a huge Jewish community, and although we had a genetic screening event two years ago, before I attended Rutgers, I knew that there were plenty of new students who would want the opportunity to get screened, as well as upperclassmen who may have missed the opportunity then,” she said.

Ms. Winchester got in touch with Hillary Kener, the assistant director of outreach and marketing at JScreen, and JScreen provided free screening for 50 students. The kits, which are available online at, normally cost $149.00. To take the screening test, you just spit in the cup that comes in the kit, and put it the preaddressed envelope. A genetics counselor will call you within three to four weeks with your results.

“JScreen has made the importance of Jewish genetic disease screening a communal issue, and we have always believed that this generation of college students would be the first for whom Jewish genetic disease screening would be the norm,” JScreen’s founder, Randy Gold, said. “That is why we are so proud of Dena, for taking the initiative to educate others at Rutgers and to use her own situation to potentially save a life.”

The screening was held on February 9 at the Rutgers Hillel.

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