Can genetics counseling really offer answers?

The phone rang around seven o’clock on a Friday night; I thought it was one of our friends calling. The caller ID box said, “CARSON, MILINDA MD” and I knew something was wrong. Your obstetrician never calls on a Friday night with good news.

The tone in her voice confirmed what I suspected. I listened to her talk about test results and an abnormality. Then she said it – cystic fibrosis. Now I remembered. As I was walking out the door of her office several months before, she had called after me and asked if I wanted the test for cystic fibrosis added to the list of blood tests she was ordering. I said, “Sure, why not?” I had forgotten about it until that moment.

For some reason, the staff at the clinical lab had taken two months instead of two weeks to get the results. So here I was on a Friday night listening to my doctor while she told me I was a carrier for cystic fibrosis.

The thought that I could have passed along a terrible disease to my unborn child was devastating. I couldn’t imagine how we could care for a child with a chronic, life-long ailment that would likely kill him before he reached his twenties. My husband Matt was trying to get me to explain to him what the doctor had said but I was crying too hard for him to understand.

He paged Dr. Carson and asked her detailed questions about what the results meant and what our next step would be. My husband arranged to pick up the prescription for his cystic fibrosis test the coming Monday. The next day I was traveling to Albany for a business trip. The last thing I needed to do was drive three hours north and spend several days away from my daughter and husband. I returned home late Tuesday evening. My husband and I arrived at the genetic counselor’s office first thing Wednesday morning. We waited in an area filled with parents who were bringing their children for visits with their doctors. Most of the kids had genetically related developmental or physical problems.

I only had to look at my husband’s face to know what he was thinking. Would we be these parents? Would we be bringing our child for visits with endless specialists?

Our genetic counselor repeatedly told us the statistical odds were in our favor even if my husband was a carrier. Only twenty-five percent of babies born to parents who are both carriers actually have cystic fibrosis. None of that seemed to matter because the bottom line was that until my husband’s test results came back, we would be in an emotional limbo.

There are more than 1,000 variations of the defective CF gene and 30,000 Americans currently live with some form of the disease. According to the Cystic Fibrosis Foundation, the “defective gene causes the body to produce a faulty protein that leads to abnormally thick, sticky mucus that clogs the lungs and can result in fatal lung infections.” The abnormal mucus can also affect the pancreas and bile duct, leading to permanent damage in some cases. The median age of survival, according to the foundation, is late 30s. 

They took Matt’s blood at the genetics office and assured us that this time it would take only two weeks, not months, to have the test results. I was already 16 weeks pregnant. Time was crucial. The counselor said we could legally terminate the pregnancy up to the twenty-fourth week, not after. Terminate the baby? What kind of hell were we living in?

The days after my husband’s test were the slowest of my life. The phone rang before nine o’clock on Friday morning. Instinctively, I knew it was the results without looking at the caller ID box.

“He is not a carrier,” the genetics counselor said. “I mean, we have ruled it out on all of the genes we have the ability to test, and he looks clear.”

I cried like a baby with relief.

I am still a carrier and could already have passed the carrier gene to my 6-year-old daughter, 3-year-old son and 1-year-old baby girl. They will have to be tested as adults for the gene to see if they, like me and 10 million other Americans, carry the defective version. If they are carriers, my children will have to ask their partners to test for the gene to see if they want to gamble on having a child with cystic fibrosis.

The test for cystic fibrosis only became available in October of 2001. I was blissfully unaware of my carrier status throughout my first pregnancy. The amount of stress this test placed on my family and me was unbearable. In the end, I wondered, what was the point of it? If my husband had been a carrier, I would have had an amniocentesis to test the baby and see if he had inherited the gene and the disease. What would we have done then—terminated a baby that we had carried and loved for five or six months because he wasn’t going to be perfect? Would we have been able to handle the demands of raising a chronically ill child? I’ll never know. We were blessed with a healthy baby boy who we named David.

I always respected families, who under the incredible strain of caring for a sick child, managed to provide some kind of normalcy for the rest of their children and family. That respect quadrupled over those three weeks while we waited for answers.

Genetics, and the science surrounding it, are truly amazing. But I wonder, if we are racing too fast to implement all of the new things we are learning without thinking of the consequences. There is no cure for cystic fibrosis. By taking genetic screening tests, you are not getting a jump-start on treating the disease. You are preparing yourself for what lies ahead. Is that better than waiting to see what happens once your child is born? Can genetics counseling really offer answers?