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When Turning Down a Genetic Test Changed My World for the Better

When I first found out I was pregnant, I’ll be honest: It was scary. It was a surprise, and I knew it would change my world. You know, first child jitters and all.

My ob/gyn asked if I’d like to speak to a genetic counselor. I thought it couldn’t hurt. My mother’s side of the family has inherited rare genetic syndromes: Waardenburg’s syndrome that affects hearing and pigmentation, X-linked retinoschisis which affects vision, Chiari malformation that affects the base of the brain and spinal cord.

These syndromes are very rare, but I knew about them. I knew their names, and I came to the counselor fully armed with descriptions, family trees and genetic maps tracing these syndromes throughout my family. What I didn’t do, or know, was much about my father’s side.

My father had male cousins who had intellectual disabilities and specific facial features. I didn’t have a name for this condition, nor did I know if others in my father’s large extended family shared these traits. I learned in high school about fragile X syndrome, but I couldn’t be sure the cousins had this syndrome. And, due to my family’s dynamics, it wasn’t polite for me to ask.

At the genetic counselor’s office, we discussed the syndromes from my mother’s side. None had been extremely life-changing, and none had a fool-proof testing system to see if I was a carrier. The counselor advised since I was aware of these potential syndromes, I should be extra diligent in case any symptoms appear.

Then we chatted about my father’s side of the family. We spoke about his brother who lived with his mother as an adult. We talked about my father’s male cousins. I mentioned the rumors I heard of other cousins with cognitive disabilities. We discussed the frequency of miscarriages and stillbirths among women in my father’s family. Fragile X syndrome was mentioned and seemed to fit all these stories.

Then, the genetic counselor asked me: “Well, what about your father? Is he ‘normal?'” I was a bit taken aback. He may not have been an A student, but he didn’t have any challenges. What was she implying?

“Oh, well, if your father is ‘normal,’ then you have nothing to worry about. He doesn’t have fragile X syndrome, so he can’t pass it on to you. There is a test to see if you are a carrier. We can test you if you’d like, but you probably have nothing to worry about.” I believed her. I trusted her to be the expert and to know what she was talking about. We chose not to test because the geneticist downplayed the risk.

Five years later, my third child — my youngest son — was diagnosed with fragile X syndrome. The genetic counselor was right: My father didn’t have fragile X syndrome. However, he did have the premutation. In short, my father is a carrier, which makes me a carrier. Fragile X carriers often do not show any symptoms and can pass the premutation from generation to generation before fragile X syndrome appears. The counselor was wrong about so many things. My father did pass it on to me, and I had everything to worry about.

Was I mad at the counselor? I was furious! How could a genetic counselor get so much wrong about the most common inherited cause of intellectual disability? How could a genetic counselor miss such a life-changing diagnosis for me and my children? How could a genetic counselor not share the unique health dangers associated with simply being a fragile X carrier?

Most of my anger was wrapped up with the grief of the diagnosis. Once I moved beyond that stage, I had a shocking realization: If I did get tested at that genetic counselor visit, my family would be very different. If I knew I was a carrier, I would have made different decisions. I wouldn’t be blessed with my second child, my darling daughter. I wouldn’t know the wonders of being a mother to my third child, who has special needs. I would have stopped with my first child, played it safe, and lost so much more in the process.

So here I am armed with knowledge and ripe with experience. Accepting my roles as a special needs mother, a fragile X educator, and my child’s advocate wasn’t easy. And I’ll be honest: It was scary. It was a surprise, and it changed my world — for the better. And, you know, I owe it all to a genetic counselor getting it wrong.

woman and her two boys and girl sitting on a bench
Lisa and her children.

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