The Benefits of Our Daughter's Diagnostic Label

When my daughter was born 4 years ago with Apert syndrome, I never once looked at her as a syndrome. My husband and I were aware of the reality that she was different and would need extra help to reach her full potential in life, but we didn’t filter our conversations with others regarding her diagnosis. She was — and always has been — Sarah to us.

I guess that’s why it baffles me sometimes when people shy away from labels or diagnoses. I’ve had recent conversations with those who tell me they’re glad their son/daughter hasn’t been “labeled” because that means they won’t be viewed as different.

But I beg to differ on that. First of all, everyone notices when someone is different. It’s just human nature. Our first response to someone in a wheelchair, with a speech impediment, who uses leg braces or, as in our case, has a craniofacial condition is to think, “This person is different.” To be clear, this does not mean we necessarily put a judgment on that reality. We are merely acknowledging the truth that there is likely a diagnosis of some sort, and it’s neither good nor bad.

Why is ignoring a diagnosis desirable to some? I understand the principle behind such a theory, especially when it comes to dealing with a society that isn’t exactly open to accepting people who don’t fit the “normal” bell curve. But I can attest to the fact that labels can help, rather than hinder, a person’s overall quality of life.

I marvel at the milestones Sarah is able to reach because we know and understand her rare condition. My husband and I have studied Apert, discussed the genetic mutation and consequence with her geneticist, and have gotten to know other Apert families. I personally have become friends with some adults with Apert, which has enriched my life in unimaginable ways. All of these have contributed to how my husband and I better, more deeply understand what Apert does to the body and brain, or at least has the potential to do.

Again, we don’t put our daughter into a proverbial and stereotypical box. We don’t categorize her or talk to her as if she were a medical diagnosis. In fact, I have not met anyone among her team of specialists, physicians, surgeons, and therapists who have done this. Every conversation, every surgery, every encounter deepens our understanding of what has affected Sarah’s little body and how we can best help advocate for her.

Without the Apert diagnosis, or “label” as it were, Sarah may likely not have made it beyond her first year. If we never sought to understand what she was born with, we wouldn’t be aware of those critical skull surgeries that must be done before the brain becomes too enlarged for the fused skull during infancy. I can’t imagine remaining ignorant on such a vital, life-changing issue.

So, you see, labels have changed our daughter’s life. They have changed our life. Sarah is and always will be first and foremost a person. Her unique dignity is never lost upon us. We know she isn’t defined by her diagnosis, yet it is very much a part of her journey. She is still very much a typical child.

Not long ago, our oldest daughter, Felicity, was asking some questions during lunch about why Apert syndrome makes people’s hands and face look different — an innocent question. Sarah proudly declared, “I don’t have Apert syndrome!” It was a moment I realized that, despite the myriad appointments, exercises, and ongoing medical care she receives, she’s never received the message that she is merely a label.

Labels can save lives. Labels can educate. Without labels, how would medical advancements reach their peak? How would scientists properly research different conditions so as to make surgeries less risky and more efficient? And how in the world would we, as a family, ever have known or met other people who have similar craniofacial conditions? Without labels, without diagnostics, we would be lost, and we may not have Sarah with us. You see, life extends beyond labels, but I am grateful for them — not because they have created a vacuum in which we exist but because they have allowed us to understand our daughter as she tells us her story.

Life unfolds differently for us all, and thankfully, human dignity has not been compromised for Sarah because of her diagnosis.

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Thinkstock photo by Ingram Publishing