Silent Night: Cystic Fibrosis and Genetic Disorders

It is Christmas Eve morning, and the cemetery is utterly quiet. We are the only living souls, my family and I. Huddled around a small gravestone on the top of a hill, shivering against the bleak winter wind, we are somberly commemorating the loss of a child—the uncle I never met, the brother my Father never had. It is a gloomy holiday tradition, perhaps, but it is a crucial tradition nonetheless.

In my household, Christmas Eve is a day tinged with sorrow, loss, and stolen possibilities. On that day fifty years ago, at the tender age of three, my father’s younger brother succumbed to cystic fibrosis, a recessive genetic disease that causes a thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body.

Cystic fibrosis is caused by a defect in the CFTR gene. An individual with cystic fibrosis must inherit two defective CF genes, one from each parent. Since both of my grandparents were carriers of the recessive CF gene, my uncle had a 1 in 4 chance of inheriting the disease. While my father grew up disease-free, Tommy was dealt a bad genetic hand, so to speak. Tommy’s condition progressed rapidly, the mucus clogging his lungs and obstructing his pancreas, eventually overtaking him one silent, snowy Christmas Eve night.

In the past decade or so, tremendous strides have been made in the area of genetic research. Thanks to ongoing efforts like the Human Genome Project, it is now possible to detect defective genes in babies before they are even born. So we can screen for such disorders as cystic fibrosis, breast cancer, and Tay Sachs in parents and unborn babies. Oftentimes, however, this knowledge can be more of a curse than a blessing.

At the time of Tommy’s diagnosis, both of my grandparents were unaware that they were genetic carriers of the cystic fibrosis gene. Had they known there was a 25% chance of their child developing a fatal genetic disease, how would this knowledge have affected their decision to have children? How would it have affected their marriage? Would they even have gotten married in the first place, knowing that they were a dangerous genetic match?

But these questions are all mere “what ifs,” and this is part of the reason why genetic research is so controversial—it raises difficult issues, difficult questions, that often have no answer.

Silently, I reach out and find my father’s gloved hand, squeezing it tightly. As he stares down at the gravestone beneath him, I think of the tremendous void that he has carried with him all these years—the ghost of his younger brother, forever haunting him with lost hopes and dreams, with memories that never were.

Imagine a world in which breast cancer, Tay Sachs, and cystic fibrosis didn’t exist. In this fictitious world, my Uncle Tommy would have grown up happily and healthfully, started a family, lived a long life. Sadly, although science has made great leaps in the area of genetic research, we are still no closer to finding a cure for diseases such as cystic fibrosis. Despite the maelstrom of controversy surrounding genetic research, I think this is a common goal we can all—regardless of our stance on the issue—agree upon.

—Anna D.

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~ by ardickens on January 13, 2012.

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