At first, people who knew of my family history would tell me “you’re so lucky you’re JUST a carrier.” I readily agreed. But as I got older and wiser, and scientists began to study females with ALD and other X-linked disorders and found that many did develop symptoms — albeit usually less severe and disabling than those in males — the “carrier” label didn’t seem quite right. From a historical perspective, Mary Lyon was the geneticist who is credited for the discovery of X-inactivation, a phenomenon which partially explains why female carriers of X-linked conditions may experience symptoms, in 1961.
Still, most people, including many medical professionals, associate the term “carrier” with a completely symptom-free individual who silently passes a disease on to others. Indeed, most of the commonly used dictionary and encyclopedia websites (and some prominent medical ones) advance this very definition. Yet, I regularly attend ALD conferences with female “carriers” who are confined to wheelchairs, who use a cane to walk, or who suffer significant bowel and/or bladder dysfunction as a result of their mutated gene. While the percentage of females who develop physical symptoms, as well as the severity of those symptoms varies depending upon the X-linked disorder, it can be very disconcerting for a woman with significant or disabling physical symptoms to be informed by others — including, sometimes, her own doctors — that she must be misinterpreting or imagining them because, after all, she is “just a carrier.”
Aside from the confusion caused by the mistaken assumption that all carriers are asymptomatic, the term “carrier” also comes with stigma. Like history’s most infamous disease carrier, Typhoid Mary, who was viciously persecuted and quarantined for life after unknowingly spreading typhoid, carriers of genetic diseases may find themselves scorned or condemned by others, particularly if they passed down their genetic mutation to a child.
In addition to this societal stigma, studies have shown that parents and even grandparents of children who inherit genetic diseases experience significant guilt and feelings of responsibility for passing down their mutated gene, even if they had no knowledge of their carrier status before they had children. While rationally they may know that they are not to blame, they nonetheless shoulder immense feelings of responsibility, placing them at high risk of anxiety and depression. When it comes to X-linked diseases which are often unknowingly transmitted by a seemingly healthy carrier mother to an affected son, studies demonstrate that it is not uncommon for fathers to consciously or subconsciously blame the mother for their son’s condition. These complicated emotions which run within a family obviously heighten the already difficult task of raising a child with a genetic disorder.
For carriers who have not had children, the stigma may extend to their worth as a potential reproductive partner. In addition, carriers often find that their personal reproductive choices — which may include adoption, in vitro fertilization with preimplantation, genetic testing, amniocentesis or CVS with termination of an affected fetus, natural conception, or not having children at all — are fiercely scrutinized and judged by others, sometimes even by their own extended family members.