On the other side of the spectrum, the genetic roots of some adult diseases, such as cardiomyopathies and colorectal cancer, were elucidated only after studies in children. Because of the challenges of pediatric research, it’s rare that a disease is solved in children before adults. For breast cancer and HIV, advances in pediatrics are as unexpected as they are unprecedented.
The child in Colorado was screened as an embryo for a gene called BRCA. This gene carries an increased risk of breast cancer. By weeding out the embryos with the gene, this little girl is spared the fears of her mother, whose genetic code includes BRCA. This kind of analysis, called pre-implantation genetic testing, is only one facet of the growing field of embryo research. The Food and Drug Administration is also considering approving the creation of three-parent embryos. This technique could spare babies from mitochondrial diseases. In this rare group of diseases, the cell cannot keep up with energy demand, resulting in blackouts of body function. The diseases are difficult both to diagnose and treat. For women with a drained cell battery, mixing in the mitochondrial DNA from another woman could save lives. But there’s no denying this powerful research is risky and controversial.
In Mississippi, doctors hoped that their daring treatment might prevent the mother’s HIV from infecting her baby girl. Instead, they watched as the virus gained a foothold in the infant’s body. On her medical records they marked her HIV status as positive. From that day forward doctors assumed she’d have to take medication to keep the virus in check. But then something odd happened. At a check-up her mother admitted she hadn’t given the baby her medication in five months. She started missing doctor appointments. Unexpectedly, her HIV didn’t come back. Puzzled, her doctors ordered tests. Where did the virus go? They could only find remnants of HIV, like wounded soldiers unable to fight, hiding in the girl’s cells. This baby is now a healthy three-year-old. Last week, we learned she’s not alone. A second baby, treated even sooner, within four hours of birth, is similarly cleared of the virus. This research is part of a trend in pediatric HIV; one that many believe will result in children being the first population cured of the disease.
When I look at my three-year-old daughter I can’t imagine her participating in a research study. I’m a scientist and yet the idea of her being given an aggressive drug regimen to cure her of HIV, or having her embryo poked with a needle and then analyzed, is terrifying. But the only thing more terrifying is the thought of her sick and dying.
Children need our protection. First we have to figure out what to protect them from. Do we shield them from highly experimental research? Or do we pursue cures at all costs? Our answer has to be as nuanced as the science itself. In our debate over research in children, these two, healthy toddler girls serve as positive examples. They represent the best science has to offer. Research based on these two cases has the potential to reach beyond pediatrics. Their experiences will inform new therapies to treat disease in adults. There may be nothing more frightening than a research study performed on our children, unless it’s a baby with an incurable illness.