For the Jewish community, perhaps the biggest success story in genetic testing is Tay-Sachs: The disease is carried by one in 27 Ashkenazi Jews (who come from Eastern Europe), and nearly always has been fatal. Today, among Ashkenazi Jewish populations, it has been almost entirely eradicated.
Matt Diamond is a 39-year-old financial planner whose sister happens to be an amateur genealogist. After creating a family tree for a school homework assignment, she was hooked and spent the next 25 years digging into her family’s Ashkenazi roots. In 2014, she sent a saliva sample to a genetic testing company, hoping to find more family members through their DNA database. She was shocked when the test identified her as a carrier for the BRCA2 mutation, a fact later confirmed by her medical doctor.
Michelle Wilson was dealt an unexpected hand: Her father had breast cancer. According to the American Cancer Society, the lifetime risk for men is one in 1,000. In 2006, Michelle’s father reached for his seatbelt and felt an excruciating pain through his arm and left breast. At 52, he was diagnosed with stage 3C breast cancer
I truly believe in the old adage that “knowledge is power.” When a couple finds that one or both carries a genetic mutation, this will likely change their perspective on family planning. Although this information might be hard to swallow, in my experience couples are happy that they are empowered with information that makes it possible to make sound decisions about their future.
For 69-year-old New Jersey native Rona Greenberg, cancer has always been a constant. Her mother was diagnosed with breast cancer at age 37 and passed away six years later, when Rona was 19 years old. In 1997, just three years after the BRCA genes 1 and 2 mutations were identified, Rona and her three sisters participated in a clinical study for high-risk Ashkenazi women.
“It was good I got cancer,” says Cynthia Kimball. “I thought these kinds of things happened to other people and not to me. I thought I was invincible.”
Soon after Danielle “Dee-Dee” Shiller turned 40, her best friend was diagnosed with breast cancer. Then Shiller, a gynecologist and osteopath, learned that a large Jewish family in her Baltimore practice carried the BRCA gene mutation but had no history of breast cancer.
JScreen has made access to genetic carrier screening easier than ever. A national effort based out of Emory University’s Department of Human Genetics, the JScreen genetic screening program is the first of its kind.
In the meantime, we took Evan to see a pediatric ophthalmologist. Midway through the exam, the doctor found a cherry-red spot on his retina. This news was like having a dagger stabbed through our hearts, since this was an almost certain indicator that Evan had Tay-Sachs disease. I contacted my OB-GYN, who, upon re-examining my records, discovered that I had actually tested positive as a Tay-Sachs carrier.
Rachel Chaikof was two years old when, with the help of cochlear implants, she heard her mother’s voice for the first time. “Cry Rachel, cry Rachel, ” her mother sang, alongside Rachel’s grandmother, who clapped her hands, watching her granddaughter, born completely deaf, respond to sound. “My family and I never understood why my sister and I were born deaf,” Rachel, now 30, says, “We knew it was genetic, but we never really had an answer.”
