One day, about four years ago, a young couple came to Dr. Alan Shanske’s office looking for help. They had already been to numerous doctors, but none of them was able to diagnose their 4-year-old son.
Fred and Joan Horak have been ranchers since 1985, so 11 years ago, when Joan noticed that two lambs from her flock had tilted heads and wobbly legs, she knew something was amiss. Little did the Horaks know that their discovery of these two sick lambs would end up providing new hope in the search for a treatment for a deadly genetic disease that afflicts humans.
Citing rising Jewish intermarriage rates, the leading organization devoted to combating Tay-Sachs is urging doctors to encourage the use of more comprehensive testing methodology to identify carriers of the deadly genetic disease.
The Jewish community has long been a leader in supporting medical research and education efforts, especially with regard to those diseases that disproportionately afflict people of Ashkenazi Jewish descent. Creating coalitions with other patient advocates in the rare disease community would give American Jews an opportunity to advance efforts to fight diseases that disproportionately affect Jews, as well as to participate in an important public policy debate involving millions in this country.
“My wife and I were married by two rabbis, one Conservative and the other Reform, and neither of them gave us any information about Jewish genetic diseases.” So begins the story of Lawrence Sernovitz, himself now an associate rabbi at the Old York Road Temple-Beth Am in Abington, Pa. A little more than a year later, in September 2008, Sernovitz and his wife had a baby boy born with familial dysautonomia, a rare recessive genetic disorder essentially found exclusively among Ashkenazi Jews.
With additional mutations for genetic diseases continuing to be discovered among Ashkenazi Jews, genetic screening advocates are urging people to get tested for newly identified diseases, even if they have already been tested for other diseases.
Drugstores stock tests that gauge blood sugar levels, predict ovulation, ascertain pregnancy and determine whether illegal drugs are in the bloodstream. And back in May, the Walgreens pharmacy chain announced that it would offer testing kits of another kind: ones intended to detect genetic diseases.
A two-year pilot program that promotes genetic disease awareness and offers carrier screening will be introduced in Atlanta as a result of a $1.5 million grant from the Marcus Foundation, the philanthropy of Home Depot co-founder Bernard Marcus.
An emerging therapy that attacks cancer cells continues to show promise, most recently in two international studies on women who have breast and ovarian cancer and are carriers of cancer-causing mutations particularly prevalent among Ashkenazi Jews.
For a long time, Sheryl Grossman felt like she was alone in the world. Growing up in Flossmoor, Ill., she didn’t understand why she was so small, and why she had to see so many doctors. At the age of 14, her parents told her that she had Bloom’s syndrome, a rare autosomal recessive genetic disorder that affects cells’ normal process of DNA repair, resulting in small body size and a high vulnerability to diseases such as cancer, diabetes and immune disorders.