New Test Finds 580 Fatal Diseases Before Conception


Elizabeth Joshi of Evansville, Ill., could have been helped by this test, as she spent months trying to get a diagnosis for her son with Joubert syndrome, a rare genetic disorder that affects the brain's cerebellum.

Though it can vary in severity, it causes breathing problems, seizures and often fatal kidney disease. Only about 650 families in the U.S. are affected.

"Not knowing what was wrong with him hit me like a ton of bricks," said Joshi, 40, and a former lawyer.

Shaan, now 6, is unable to eat solid foods and cannot speak or walk. How long he will live is "a big question mark," according to his mother.

"He seems very aware of what's going on," said Joshi. "But it's so hard on him physically for him to express what he needs and wants and leads to a lot of aggravation for him. It's a daily struggle."

Shaan's 8-year-old sister in unaffected, but Joshi has decided not to have any more children.

"We are personally not willing to roll that dice," she said, "knowing what he deals with."

Shaan Joshi, 6 and shown here with his sister, Shefali, has Joubert syndrome and cannot walk or speak.

Scientists look to the 40-year history of a carrier blood test to detect Tay-Sachs, a childhood disease that has been virtually eliminated among people with Eastern European Jewish ancestry.

Public education campaigns in synagogues encouraged all parents to be tested before conception. Now, mostly non-Jews, though their risk is not as great, are among the 100 American children who have the disease, according to the National Tay-Sachs and Allied Diseases Association (NTSAD).

Tay-Sachs, a neurological disorder, is fatal in children. They are missing a critical enzyme, which affects their swallowing and disrupts normal development. Many go on to have feeding tubes and most die between 2 and 8 years old.

Tay-Sachs Devastates Affected Families

Deborah Spielman, a 51-year-old construction manager from Newton, Mass., never bothered to do the Tay-Sachs testing until she was pregnant with their first child.

The results got lost in the mail and were deemed, "inconclusive." But when she was just shy of six months pregnant, positive results were confirmed and she aborted.

"I was the type of person who would have said before I knew anything about Tay-Sachs, I wouldn't abort," she said. "I wouldn't abort if I had a child with Down syndrome. I could have dealt with that. But I learned how devastating Tay-Sachs was."

She aborted another positive pregnancy early on, but has since had three healthy children, now 21, 18 and 5.

Deb Spielman of Newton, Mass., had seven pregnancies, two of which were affected by Tay-Sachs syndrome. She eventually had three healthy children, Maddie, now 21; Jacob, 18; and Maya, 5.

Now, her brother is getting married and has asked her if he should be tested. "What happens if they are both carriers?" asked Spielman. "Is that going to change the way you guys feel about each other? It could be a cloud over the wedding."

Tim Lord of New York City lost his 3-year-old son Hayden to Tay-Sachs in 2000. His brother, an identical twin, also lost a child to the disease six months later. The twins were not Jewish so they never sought testing.

"We didn't even know to be tested," said Lord, who now has two healthy girls.

Although the new genetic test will not replace the standard enzyme test for Tay-Sachs, Lord said it should be "taken seriously as part of an educational and advocacy process."

"It only makes sense to move forward thoughtfully and carefully," he said. "But it absolutely is a very positive thing for a young family."

"I never would have traded in my son," he said. "But I would never knowingly bring a child into the world who suffered the way he did. It's dreadful. It's not something like Down syndrome where you can bring a child in and build a life, just a different life. This was brutal."

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