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When Genetics Complicates Family Planning

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Pregnancy is complicated.

Some women love it. They say it’s the best they ever felt in their whole life. Then there are women like me who absolutely hated it. The ever present nausea for months on end. The raging hormones (paired with my existing mental illness. Fun!). The kicking on the ribs, the bladder, and every internal organ. A few months into my first pregnancy I wondered why no one had told me how awful pregnancy could be. Yet the end result was an amazing little boy that made the discomfort worth it.

Parenthood is complicated.

Two and a half years later, my husband, our older son, and I were sitting in a small exam room with a neurologist and the “we’re a teaching hospital” entourage. The doctor explained that our toddler has a rare genetic neuromuscular disease. I don’t remember much after that opening statement. All I could think about is the weeks old fetus growing inside of me that, we learn during that visit, may or may not have the same disease.

Genetics is complicated.

At that point, in 2009, doctors and researchers knew this disease was genetic but they didn’t know which gene was affected and how. Or if it was a series of genes. Or if it was a simple case of recessive vs. dominant genes. We didn’t know these answers for six years when we learned, through a research study, that both boys inherited the same mutated gene, and that Tim and I carry the recessive gene that causes SELENON-related myopathy. We also learned, with a simple Punnett Square, that we could have had children unaffected by the disease.

Reproduction is complicated.

We had planned to have more than two children, but this turn of events changed our minds. It is tempting to feel guilty about giving my children a mutated gene that caused a rare and life-threatening disease. It is tempting to explain it away as our fate or some cosmic plan or the luck of the draw. I mean, what are the odds that two people with the same ultra rare mutated gene would get married and have children? Rather than work out the math, I choose to accept what is and not what could have been.

Being a family is complicated.

Every family faces hardship. We are not unique in this way. SELENON just happens to be one of our hard things. The disease has also brought extreme joy. We cheered a little bit harder when both boys learned to walk because it wasn’t a given. Our family has met wonderful people and gone to amazing places because of the boys’ disease. Despite the ups and downs of our life, I love us because of it, not in spite of it.

That part isn’t complicated at all.

Getty image by Portra

Originally published: March 1, 2023
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