‘Diagnostic hell” was the way that Mary Jo Reich, a mother of two from Short Hills, N.J., described her son Scott’s battery of misdiagnoses. Although pediatricians had told Reich that Scott was following a normal developmental curve for the first eight months of his life, she had always sensed a problem. “He was less than an hour old, and I felt something was wrong in his eyes,” she said. “He wasn’t here.” When Scott was 1 and did not walk, hardly spoke and continued to have low muscle tone, the Reichs were told that he had cerebral palsy. It was not until Scott was 21 months old, after the Reichs had traveled up and down the East Coast in search of a second opinion, that Scott had a conjunctival biopsy, a procedure used to count the eye’s abnormal storage bodies. After the procedure, Scott received a confirmed diagnosis for the first time: Mucolipidosis Type 4, commonly known as “ML4.”Read More
Two new oral treatments for Gaucher disease, the most common of the Jewish genetic diseases, have reached Phase II clinical trials and could be on the market within the next few years. Two pharmaceutical companies, Genzyme and Amicus Therapeutics, are each developing their own oral drugs and have taken very different approaches to tackling the enzyme deficiency that is at the root of the disease.Read More
At the Pennsylvania summer camp where she was working as a counselor, Shoshana Rosen got tested for nine Jewish genetic diseases and found out she was a carrier of cystic fibrosis. Thanks to the Victor Center for Jewish Genetic Diseases, the tests she received were free of charge. Had she gone to a private laboratory, it would have cost around $2,000.Read More
The Forward presents this section to provide information on some of the more serious Jewish genetic diseases. There are about 20 “Ashkenazic diseases,” not counting the higher rates of at least four cancer-related genes. The diseases are more prevalent in the Eastern European Jewish population because of centuries of endogamy — literally, “marrying within.”Read More
More than six decades after the victims of the Holocaust met their fateful end, a new genetically based initiative could give some of the departed the last respects they never received.Read More
The canvases lining Ted Meyer’s studio seem too small for their contents. The jumbled skeletons they depict, upside-down and askew, resemble boxes full of bones dug up by an archaeologist and haphazardly stowed away for later scrutiny.Read More
The extraordinary science of genetics, which is in the process of describing the very nature of our natures, is still in its infancy. The claims made for genetics, a science as narcissistic as any infant, generally outstrip the science’s ability to define or treat genetic illnesses. Yet there is an undeniable power in the notion that some people carry within them the seeds of their own and their children’s illnesses. But there is also a risk: In a world of interrelated databanks and insurance that can be canceled at a moment’s notice, would anyone want to be labeled as “at risk”? Is there any benefit to being a member of a collective that is seen as suffering from its very own genetic diseases?Read More
As a member of the band Pearl Jam, the guitarist Mike McCready has played a good number of memorable concerts, but a recent show in Portland, Ore., hit especially close to home. The July 20 concert, at which Pearl Jam shared the stage with the indie-rock trio Sleater-Kinney and the comedian David Cross, was a benefit for the Crohn’s and Colitis Foundation of America; McCready himself suffers from Crohn’s disease, a digestive disorder that afflicts an estimated 500,000 Americans.Read More
Three young girls with juvenile Tay-Sachs — Dakota Bihn, Alexis Markowich, and Jashaia Small — are currently receiving umbilical-cord-blood therapy at Duke University Medical Center. The girls are under the care of Dr. Joanne Kurtzberg, who, as the Forward reported last year, has already performed cord-blood therapy on children with Krabbé disease.Read More
For people who suffer from familial dysautonomia (FD), hope recently came in the form of an Israeli chicken egg.Read More
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