Cystic Fibrosis: Discovering the disease hiding in your genes

You’re planning on having a family, and more than anything you want a healthy baby. You imagine what traits you’ll pass on. Does he have your eyes? Does she have your nose? But you may not be considering what else you could be passing on to your baby through your genes, including life-threatening diseases like cystic fibrosis (CF).

CF causes the body to produce abnormally thick mucus resulting in chronic respiratory, digestive, and growth problems. Normally found early-on in childhood, CF can range in severity; it all depends on the genetic makeup. In order for a child to be born with CF, both biological parents need to be carriers of the genetic disorder. When both partners are carriers, there is a 25 percent chance that the child will be affected, illustrated in the chart to the right.

Autosomal Recessive Inheritance

The central cause of CF is defects in the CFTR gene. This gene makes a protein that handles the movement of salt and hence water coming in and out of your body’s cells. A patient is diagnosed with CF when this protein is not being made, or is all damaged, due to the gene defects present. According to the National Heart, Lung and Blood Institute, “there are more than a 1000 known defects that can affect the CFTR gene. Dependent on the gene defect, the severity of CF can vary with each case.”

Genetic testing can sound intimidating, but it’s actually very simple and a crucial part of a healthy pregnancy plan. A quick blood test can help prospective parents understand how their genetics could impact their children. Positive test results give parents the chance to pursue various reproductive options that can greatly decrease the chance of having a child diagnosed with CF. Negative test results can provide peace of mind, knowing your family has a reduced risk of developing this common genetic disorder.

While there isn’t a cure for CF, life expectancy is increasing. With clinical trials being conducted, and evolving treatment options, living with cystic fibrosis is more manageable now than your parents’ generation. The most important aspect when it comes to living or caring for someone with CF is ensuring they have a proper medical team, staffed with doctors, nurses, and respiratory therapists who specialize in this disorder.

Receiving the news that both you and your partner are carriers can feel overwhelming. But knowing if your future child is at risk through the simple process of genetic testing can help parents make informed choices for the health of their baby.

  1. National Heart Lung and Blood Foundation
  2. Cystic Fibrosis Foundation
  3. National Heart, Lung and Blood Foundation