The Future of Down syndrome? Hope or Elimination

The Future of Down syndrome? Hope or Elimination

By Rachel Allison

In July of this year Dan Hurley wrote a heart-warming article in the New York Times on Dr. Alberto Costa, his wife Daisy, and their daughter Tyche. (pronounced Tishy)

Costa and his wife had been trying to have a baby for a couple of years. Daisy’s first pregnancy ended in a miscarriage, which they knew could occur because of a genetic disorder in the fetus. When Daisy became pregnant a second time, Costa insisted they get a chorionic villus sampling, an invasive prenatal genetic test. But the procedure caused a miscarriage. (The test showed that the fetus was genetically normal.) Costa vowed that if there were a third pregnancy — this one — they would conduct no prenatal tests.

Hours after Tyche’s birth on June 25, 1995, the hospital’s clinical geneticist explained to Dr. Costa that Tyche had Downs syndrome. Costa sat up through most of the night crying. But by morning, he found himself doing what any father of a newborn might: hovering by the crib, holding his daughter’s hand and marveling at her beauty.

“From that day, we bonded immediately,” he told Hurley. “All I could think is, ‘She’s my baby, she’s a lovely girl and what can I do to help her?’ Obviously I was a physician and a neuroscientist who studies the brain. Here was this new life in front of me and holding my finger and looking straight in my eyes. How could I not think in terms of helping that child?”

Since then Costa has dedicated himself to the study of Downs syndrome. Advances in research had taken place before Tyche’s birth, but in the past ten years investigative research and studies have surged forward giving new hope to the 6,000 parents who give birth to Down syndrome babies each year.

As excited as Dr. Costa and other devoted scientists are about discovering procedures and drugs that would normalize the brain cells of those with Down syndrome, a competing group of scientists are striving to eliminate it altogether. How? With tests that detect Down syndrome in the first trimester of pregnancy. Unfortunately these tests are providing an incentive for parents to abort their fetuses.

Costa, like others researching the “hows” to help those born with Down syndrome, fears that the imminent approval of those prenatal tests might undercut support for treatment research, and even raises the possibility that children like Tyche will be among the last of a generation to be born with Down syndrome.

Recognizing the precious experiences and devotion he and his wife have had with their Tyche, Dr. Costa feels there is a critical race taking place. If he and the dedicated team of doctors win, their research and discoveries will give purpose and acceptance of those born with Down syndrome. If the other teams of doctors win, those fetuses detected with Down syndrome will in most cases be aborted before the precious experiences and hope in research have a chance.

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