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Friday August 27, 2004

Heartbreak of genetic disease

editorial

A wrongful life. That’s the legal term for a baby that should never have been born.

For parents watching in horror as their child succumbs to a genetic disease, the concept of wrongful life can be very real.

Our cover story this week describes the heartbreak of living and dying with a Jewish genetic disease. Most of those conditions are incurable, fatal and swift, their victims usually children.

It’s a grim picture, though there is hope on the horizon. Gene therapy has shown great promise, but currently only one disorder, Gaucher disease, can be treated with gene therapy.

As the article points out, that heartbreak need never afflict any Jewish family. Pre-pregnancy screening can determine carriers of any Jewish genetic disease. But it will take a partnership among couples, doctors, government and the organized Jewish community to get the word out.

Currently, California mandates prenatal and newborn screening for a handful of disorders, most of them chromosomal, like Down syndrome. Though expanded taxpayer-funded screening will likely become law, the program does not include the metabolic disorders that constitute the most deadly Jewish genetic diseases.

Pre-pregnancy genetic counseling is the answer.

The American College of Obstetrics and Gynecology recommends all Ashkenazi Jews planning a family undergo carrier screening. Those tests can determine whether couples run the risk of bearing sick children. Bay Area residents can contact the Stanford-UCSF Lysosomal Disease Center for potentially critical information.

Community education works. Tay-Sachs disease, once a feared predator of Jewish children, has been virtually eradicated, thanks to a decades-long campaign to encourage testing. We can do the same for Niemann-Pick, Canavans and every other Jewish genetic disease.

The technology exists to easily identify carriers. But insurance companies may not pay for every test, which means couples have to either pay out of pocket or skip testing. That creates a potential two-tiered health-care system, one for people who can afford testing, and one for those who cannot. That is unfair and, for families afflicted with a genetic disease, cruel.

The Jewish community should lobby the medical establishment to enlarge their scope. Let’s expand carrier-screening programs, expand prenatal and newborn testing, expand research into treatments and wipe out the scourge of genetic diseases once and for all. It’s within our power to do so right now.

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