Dr Alberto Costa was a research associate in neuroscience at Baylor College of Medicine. Hours after his wife gave birth to their only child by emergency Caesarean section, the hospital's clinical geneticist took him aside to break the news: his baby daughter had Down's syndrome.
Dr Costa held his daughter's hand and marvelled at her beauty. "We bonded immediately," he says. "Here was this new life in front of me and holding my finger and looking straight in my eyes. All I could think is, she's my baby, she's a lovely girl and what can I do to help her?" Shortly afterwards, he made a decision: he would devote himself to the study of Down's syndrome.
In the 16 years since his daughter Tyche was born, he has discovered that the drug memantine can help mice with the equivalent of Down's to overcome their difficulties and function normally. After countless experiments with mice, tests are now being done on young Down's adults, with encouraging results.
There are two problems with Down's research. The first is the limited amount of funding available. The US National Institutes of Health spends about $3,000 on research for every person with cystic fibrosis, but less than $100 for every person with Down's.
The second problem is more sinister. Soon there may be no Down's syndrome babies.
Hitherto in order to prove an unborn child has Down's, it has been necessary to take a sample of amniotic fluid, a procedure not without danger. Now scientists are perfecting tests which can prove if an unborn baby has Down's simply by inspecting a blood sample from the mother - tests which may become routine during early pregnancy.
You see, if an unborn child has something like Down's syndrome these days, it's so easy to have an abortion and try again.
You can read further details here. I'm grateful to Michael Cook, of BioEdge, for pointing out the story.
