Understanding Our Genetic Past and Future
Editor’s note: The following article is a part of the National Society of Genetic Counselors’ patient blog post series. Written by real patients, these stories share a glimpse into the sometimes complicated world of genetics and the role a genetic counselor can play in helping people navigate their healthcare. If you are an NSGC member and have a patient interested in sharing his or her genetic counseling experience, please email Jennie Szink at firstname.lastname@example.org for more information.
I watched the genetic counselor finger through the documents from the neurologist who had referred me here: a mess of notes, test results, and family histories written in illegible scrawling print. He flipped through my past, his questions short as he skimmed.
He flipped the page.
“Type 1A, correct?”
“And you’ve been symptomatic since early childhood?”
He stopped on one page that was easily recognizable even from my upside down perspective. It was filled with hand-drawn circles and squares – some shaded in – connected by vertical and horizontal lines.
“Your dad has the disease, too?” he asked, his finger hovering over a shaded-in square.
“Yes,” I said.
He looked back down at my tree. “And your sibling…”
I interrupted: “I don’t have any siblings.”
“You don’t have a brother?”
“It shows a brother on your family tree.”
“Well this is an awkward way for me to find out I have a brother, isn’t it?”
He redrew the family tree.
The genetic counselor was visibly agitated by what would turn out to be multiple errors on the rendering of my family tree. I understood why. The truth is hard enough to find without transcription errors from careless clinicians.
I have a genetic, hereditary, neurological disease. It is caused by one teeny tiny mistake in my genetic code—one extra copy of one gene among over 20,000 others. It was passed from my grandmother to my father, from my father to me.
You might think that when you have a family disease, that means you are an expert on it. This is definitely not the case.
Unfortunately, families are just as likely to pass down myths as facts. It’s not entirely the family’s fault. They may just be passing down information they were told by a doctor twenty or thirty years ago. In my family, everyone once thought Charcot-Marie-Tooth, or CMT, was polio. Some still do. That myth got passed down for at least twenty years, just as the gene did.
This is why I always encourage other patients to see a genetic counselor. We need valid and up-to-date information to understand our conditions. We need help teasing apart family myths from family facts.
Although sometimes family does get it right.
When I was two years old, I was wobbling past the bottom of the staircase in our new home when a distant relative tripped and tumbled down the stairs. Unharmed but startled, she sat at the bottom of the stairs. I stared at her, quiet. I had a messy mop of dark brown curls, and looked like a miniature brunette version of Shirley Temple.
“Are you going to come comfort me, little Bethany?” she asked.
“Who said life is fair?” I replied. Then I toddler-wobbled away.
I realize now that “Who said life is fair?” is an inappropriate response to someone falling down the stairs. In my defense, I was merely repeating a phrase that my grandfather had devilishly taught and coached me to say.
I think he was secretly delighted to learn his hard work had paid off, and this incident has been a favorite anecdote in the family. In fact, I even included it in my recently published memoir, How Should a Body Be?. How ironic, I thought, that I had been taught this at such a young age!
I found out after my book’s publication that this wasn’t the work of irony at all. My grandfather admitted that he recognized I had the family disease as soon as I had started walking. My grandparents both knew, well before my parents did, or before I did. And my grandfather did the best thing for me he could think of: to instill a worldview and understanding that he knew I would need when I was older.
However, even grandpa did not know how severe CMT could be, or how it would affect me. My grandparents didn’t know that it could manifest so differently from person to person, even within the same family. This is one more reason to see professionals to better understand your disease.
The more I learn about my disease and the complicated dynamics of a genetic condition, the less I believe that I really know what is going on with my family tree. Even the things I think I know—like things passed down as “fact” through the family—I may not.
The role of the genetic counselor isn’t, I’ve found, to translate my words directly into circles and squares connected by lines. It is, instead, to help me correct and interpret those facts, and to understand my disease and the way it affects me now and will in the future. It is to help me find the truth.
I was at that appointment to discuss family planning. It will likely be the first of many genetic counseling appointments that my husband and I will attend, in an attempt to understand what role my genetics will play in our potential offspring’s futures.
I want to understand my disease and my options via real, actual, validated facts. I want to separate them from the myths, so that I can plan for the future.
Luckily, I don’t have to do it alone.
Bethany Meloche is the author of HOW SHOULD A BODY BE?, a coming-of-age story about growing up in Michigan, falling in love, and learning to live with Charcot-Marie-Tooth disease. Her story has been featured in the Daily Cal, the Mercury News, Mountain View Voice, and Lower Extremity Review.
Bethany is the Director of Social Media for the Charcot-Marie-Tooth Association, where she also serves on the Advisory Board. Raised in Ann Arbor, Bethany has a degree from the University of California Berkeley, and currently lives in London, where she writes and goes for long walks with her husband.