Female Carrier Misinformation in our Education System and Beyond

Being from an ALD family, surrounded by medicine from an early age, I have always, always, always wanted to be a doctor. Since middle school, I have done what I could to place myself in as many biology-related classes as possible. Like everyone else, I was funneled through three years of classes in middle school that were simply referred to as “Science.” They were broad, all-encompassing, surface level classes, but I ate up everything I could when the short human biology units came up. Then, in high school, unsatisfied with just one year of freshmen bio, I pushed myself into AP Biology and a specialized 3-year science research course. The nerd in me was eager to learn more about the many facets of ALD— genetics, cellular biology, clinical medicine…

And through all of that preliminary education, the rule of thumb when talking about genetic inheritance, when filling out pedigree charts (family trees), was always that X-linked diseases like ALD only impact males. That females can only be “carriers,” meaning they experience no symptoms or suffering, but merely play the role of transmitting the gene in question to their sons. Time and time again, that was the narrative. But, through some independent ALD research, and through my mom and grandma who are ALD carriers, I learned that what we had always been taught in school was an immense over simplification. In reality, women can and often do experience symptoms of X-linked disorders, sometimes to extreme degrees that impact their every day lives and lead to premature disability and death. Clearly, those cases are not of passive “carriers.”

I first chalked this neglect of the truth up to the simplified and out-of-date curricula of my high school. I was okay with taking their explanations with a grain of salt. After all, I was soon headed to the big leagues…

In the fall of 2018 I started my freshmen year at Johns Hopkins University, a haven for hungry pre meds. I was (and still am) thrilled to be at an institution so well known for its innovation and trend setting in the field of biology. Here, I was sure to learn a lot, including about this symptomatic carrier phenomenon so consistently neglected in lower school. I even enrolled in a Genetics course with an entire multi-lecture unit on inheritance of disorders. And sure enough, that unit came and went without any deviation from what high school taught us. X-linked=affects boys; carriers=no impact. Finally, in a confusingly distinct lecture many weeks removed from discussion of inheritance patterns, our class got to the topic of X-inactivation.

We were taught that unequal X-inactivation is the biological phenomenon responsible for females occasionally showing some minor symptoms of the disorders they carry—emphasis on occasionally and minor. Despite the lack of significance given to the topic, I was still thrilled to have finally learned how and why women like my mom and grandma could my impacted by ALD. But, through follow up research on ALD specifically, I found out that X-inactivation actually isn’t necessarily the cause of symptomatic carriers. So we are back to square one… little regard for the problem and no thorough understanding of it.

Why is it that one of the most prestigious medical institutions in the world still doesn’t have the facts straight? Why is it that our education system has kids as young as 7th grade learning about basic genetics, but all the while reiterating a false claim? And why is it that my mom still has to fight with highly trained doctors to argue that YES, it IS relevant that she is a carrier of a disease and YES, it IS possible that the carrier status is the cause of whatever health problems come up? Of course it’s no one’s fault — there are countless things we don’t yet understand about medicine or human biology — but now we DO know that carriers aren’t “just carriers,” so it’s time word is spread and narratives change!