NRL News

A Father’s Love, A Father’s Search

by | Aug 2, 2011

By Dave Andrusko 

Because of the pervasiveness of  the search-and-destroy mission that is being conducted against babies diagnosed with Down syndrome, I try to read as many accounts written for the general audience as I can. Few match “A Drug for Down Syndrome” that appeared in last Sunday’s New York Times magazine for insight, wrenching heartache, and hope mixed with deep apprehension.

Other links label the story “A Father’s Search for a Drug for Down Syndrome,” which is more revealing and more accurate. The father is Dr. Alberto Costa, a physician and neuroscientist, and the daughter (his only child) is Tyche (pronounced Tishy).

This is a story you will want to read and share, so let me talk about some of the many highlights.

The beginning passages, written by Dan Hurley, are almost too painful to bear. Costa’s wife Daisy’s first pregnancy ended in a miscarriage, “which they knew can occur because of a genetic disorder in the fetus.” So when she became pregnant again, Costa insisted they get a chorionic villus sampling.

But this invasive prenatal genetic test caused a miscarriage. “The test showed that the fetus was genetically normal” and “Costa vowed that if there was a third pregnancy — this one — they would conduct no prenatal tests.”

With all his being, he did not want to believe that Tyche had Down’s. However she did and Costa was devastated.

“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,” Hurley writes.

“’From that day, we bonded immediately,” he told me during one of our many talks over the last year. ‘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 kid?’

The bulk of the story is how Costa turned his life over to studying Down syndrome and what appears to be a remarkable potential breakthrough that has come out of his labor.

“In 2007 he published a study that showed that giving mice with Down syndrome the Alzheimer’s drug memantine could improve their memory,” Hurley writes. “Now Costa has taken the next step: he is completing the first randomized clinical trial ever to take a drug that worked in mice with Down and apply it to humans with the disease, a milestone in the history of Down-syndrome research.

“This was a disorder for which it was believed there was no hope, no treatment, and people thought, Why waste your time?” says Craig C. Garner, a professor of psychiatry and behavioral sciences and co-director of the Center for Research and Treatment of Down Syndrome at Stanford University. “The last 10 years have seen a revolution in neuroscience, so that we now realize that the brain is amazingly plastic, very flexible, and systems can be repaired.”

Then one of those classic twists which adds greater urgency.

But the effects of that revolution on Down research may yet be cut short. A competing set of scientists are on the cusp of achieving an entirely different kind of medical response to Down syndrome: rather than treat it, they promise to prevent it. They have developed noninvasive, prenatal blood tests which would allow for routine testing for Down syndrome in the first trimester of a pregnancy, raising the specter that many more parents would terminate an affected pregnancy. Some predict that one of the new tests could be available to the public within the year.

Just so we’re clear: Down syndrome would be “prevented” by eliminating the child! Although the story itself and some of the reader response insist that being able to diagnose Down syndrome even earlier would not lead to more abortions, that is virtually impossible to believe and flies in the face of experience.

Best estimates are that 90% of the babies found to have Down syndrome are aborted. Part of the reason that even more lives aren’t lost is precisely because of what happened to the Costas’ second child. More testing is not done because of the fear that an invasive test could cause a miscarriage.

One other highly relevant point, which illustrates what many predicted long ago would come to pass.

Costa points to a falloff in the financing of Down-syndrome research since the prenatal tests have been in development. Although it’s difficult to compare the numbers, money from the National Institutes of Health dropped to $16 million in 2007 from $23 million in 2003, before creeping back up to $22 million in 2011. That’s far less than the $68 million slated for cystic fibrosis, which affects an estimated 30,000 people in the United States, at most one-tenth of the 300,000 to 400,000 people who have Down.

“The geneticists expect Down syndrome to disappear,” Costa says, “so why fund treatments?”

A fabulous read. Take ten minutes and go here.

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