It’s Time to Banish the Term “Abnormal” to Describe the External Physical Manifestations of Rare Diseases

by Kara Ayik

Diverse, dissimilar, distinct, unlike, unalike, distinctive, uncommon, unique, another, not the same, characteristic, singular, distinguishing, representative, illustrative, divergent, differing, different, differences, typical of [name of rare disorder or disease]
–Alternative terms for abnormal

The word abnormal has a particularly sinister connotation in my book. To me, the idea that anyone would use that word to describe children’s faces, limbs, or any other of their external physical features is abhorrent. But despite the inherent negativity of that word, which borders on cruel, I have seen it used often in the rare disease space in descriptions of certain physical features of various rare disease populations.

From my perspective, it is not healthcare professionals who are the most serious offenders when it comes to its usage, despite the fact that they are the ones who typically write our credible rare disease descriptions, which are then quoted in patient literature, social media posts, and webpage articles. I can somewhat more patiently address healthcare professionals when I catch them using that word inappropriately; I don my teacher voice to educate them about why that term is unacceptable, particularly when used to describe faces. Perhaps I respond that way because  I don’t take them into my heart circle where the rare disease community resides. With rare exceptions, healthcare professionals are only allowed in the margins.

In fact, what devastates me most are the usages of the term abnormal that come from members—and even the leaders– of the rare disease community itself. Some seem to have no concerns or hesitancy about promulgating rare disease descriptions that describe faces and limbs and other externally visible body parts as “abnormal.” They should know better.

A few months back, charmed by an image, I clicked on a LinkedIn post announcing the unveiling a piece of artwork sponsored by a non-profit celebrating children with rare diseases. The post named the disease represented in the art along with a description of that population as having “abnormal facial features.”

As part of my personal mission to advocate for children and adults with facial differences, I immediately contacted the organization. I explained that the use of the term “abnormal” to describe the facial features was offensive, hurtful, and unacceptable. Parents do not need or want to see their dearly loved children described as having abnormal faces (or limbs or any other body parts). The non-profit’s response to my polite yet crisp email? They expressed little remorse, but they did say they would work on changing the wording (i.e., the term “abnormal”) in that post. Their explanation for its use, they said, was a rare disease description copied and pasted from the National Organization for Rare Disorders (NORD) website.

So, of course I had to stop what I was doing and write to NORD with a similar sort of email, firm yet civil and respectful. (If I am completely honest, maybe it was slightly emotionally charged.) I didn’t really expect a reply. But much to my surprise, a NORD representative did reply to my email, affirming my position on the word “abnormal” and agreeing that it should be removed. They asked for the name of the rare disease description containing the word abnormal, which I provided, along with one other disease description I knew used that term to describe faces.

Now I do not consider myself to be a member of the language police, and I am honestly quite busy. Therefore, I did not go back and track down the non-profit’s social media post, nor did I return to NORD’s website descriptions to see if they both did what they said they would do, which was to edit out the usages of “abnormal.” I just trusted they would.

But no more than a few weeks passed before I saw another social media post from the same non-profit organization, spotlighting one of our community’s other beautiful rare children, along with a description that described individuals with that rare disease as having “abnormal limbs.”

My heart sank when I read the post.  Apparently, that non-profit’s leadership just didn’t get the message. Or maybe they think since it’s not the faces being labeled “abnormal,” but just their fingers and arms and legs, then it’s okay. Most likely, no one in that particular non-profit has witnessed any cruel treatment of their own children because of facial or limb differences, I thought to myself.

The term abnormal has its roots in New and Medieval Latin, meaning “deviating from the average” or “not conforming to the rule,” the “rule” or “average” referring to a carpenter’s measurement. Basically, abnormal was born as a word to describe something that doesn’t measure up. It has its origins in designations of failure and unacceptability, grounds for rejection. According to a contributor from the popular website Stack Exchange which serves as a reasonable gauge of general public opinion, the term abnormal “appears to be associated mostly with a deviation from the norm that is detrimental or undesirable.” It is a word steeped in exclusion.

Still not convinced that abnormal is a derogatory term that should not be used to describe our children’s physical features? Consider some of the other common dictionary definitions for abnormal:

APA Dictionary of Psychology: “relating to any deviation from what is considered typical, usual, or healthy”

Collins Dictionary: “someone or something that is abnormal is unusual, especially in a way that is troublesome”

Google & Oxford Dictionary: “deviating from what is normal or usual, typically in a way that is undesirable or worrying”

Cambridge Dictionary: “different from what is usual or average, especially in a way that is bad”

Merriam Webster Dictionary: “deviating from the normal or average; often: unusual in an unwelcome or problematic way”

I’m not suggesting that the word abnormal can never be used in spoken or written discourse. Disease processes that happen internally and whose effects can be measured statistically or numerically and compared to standard ranges to evaluate health (such as blood work, bone density, or liver function, with the exception of cognitive or neurological function), might indeed be described as abnormal. In these cases, it is not a feature of someone’s identity that is being measured and labeled in a derogatory way, as in, failing to meet society’s standards for physical beauty or acceptability. What happens internally as a result of a rare disease and is invisible to the eye is rarely—if ever—a universally and publicly recognizable aspect of an individual’s personal identity. In those cases of internal manifestations (with the exception of those that occur in the central nervous system), individuals retain a choice as to whether or not they reveal them or choose to identify them as part of their personal identity.

Now there will always be the devil’s advocates who say that abnormal can be used in a positive light, or that we should “take ownership of the word” and “make it our own.” My response is, if you want to describe yourself using that term, fine. As for its usage among the rare disease community and healthcare professionals to describe children, the answer is absolutely not. Not ever will it be acceptable to describe the faces and limbs or skin or any other external body part of a rare disease population as abnormal regardless of whatever medical literature a person or organization is quoting from for educational purposes. We must all be gate keepers in that regard; we should commit to banishing its usage in our own community and in the medical literature to foster tolerance and preferably acceptance of physical differences.

So please, it’s time to stop using the term abnormal to describe faces, limbs, and other parts of the body and to urge healthcare professionals to stop writing disease descriptions accordingly. Our rare family members and rare individuals deserve better.