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How a Child's Diagnosis Should (and Shouldn't) Go

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I was cleaning up the breakfast dishes on a hot, sticky August morning when the call came. On the other end of the line was a neurologist I barely knew. My husband and I had recently brought our 4-year-old daughter to him for an evaluation because she was experiencing a strange set of worsening health issues. JJ was nonverbal, having trouble grasping objects and walking on her own, had a vision impairment, and suffered from frequent convulsive breath-holding episodes.

The doctor let me know the results from JJ’s genetic screening had come in, but there was an odd tone to his voice that had me gripping the edge of the sink. This didn’t sound like it was going to be good. The neurologist took a deep breath, then told me that JJ had a rare neurological disorder called Rett syndrome. He went on to explain its symptoms, but my mind couldn’t get past the word he used to describe the disease. “Devastating.”

After that, I couldn’t process much else. Words and phrases faded in and out of focus. Progressive. Microcephaly. Abnormally small hands and feet. Shortened life span. The horrifying list went on and on. When it finally ended, the doctor put a genetic counselor on the line, and the woman rattled off a similar list. But this one included something the doctor hadn’t mentioned. Intellectual disabilities.

In the stress-filled months that followed that horrifying phone call, I located as much information as I could about my daughter’s new diagnosis. I consulted the International Rett Syndrome Foundation and the Rett Syndrome Research Trust, medical journals, Facebook groups for Rett parents, and a neurologist who operates a specialty Rett clinic in a nearby city.

As I researched, a more accurate and hopeful view of my daughter’s syndrome emerged. I discovered that not all people with Rett are intellectually disabled. In fact, a lab in Boston has adjusted a cognitive assessment and discovered that many children can perform at or even above their age level. As treatment and care improve, life expectancy is also increasing. Not everyone with Rett is able to walk, but those who can—like my daughter—often hold onto their mobility with the help of physical therapy. A promising new drug for Rett Syndrome is going up for FDA approval in the next year, and a gene replacement trial is set to begin soon.

Though I found these things heartening, I also silently fumed. Nothing about my daughter’s diagnosis day had gone the way it was supposed to. I had been blindsided over the phone by someone who was not an expert in the disease. I had been given misinformation. I had been overwhelmed by terrifying details that weren’t pertinent to the conversation. And worst of all, I hadn’t been connected to any resources, foundations, support groups, or specialists. Instead, I had been left to fend on my own.

I knew this wasn’t the ideal scenario because this wasn’t JJ’s first significant diagnosis. At the age of two, she had been misdiagnosed with Autism Spectrum Disorder—a common occurrence for children with Rett Syndrome. The autism diagnosis had come as a complete surprise to us, but the surprise happened in a private office with two specialists who gave our family plenty of time to process. They answered all of our questions, told us about available therapies and current research, and gave us a long list of resources. Best of all, they gave us hope. “JJ hasn’t changed,” I remember one of the doctors telling me. “She’s still the same child she was before.” In the months that followed, I found myself going back to this comforting phrase again and again.

These two wildly different experiences showed me that the way in which a diagnosis is delivered matters greatly. This conversation shapes how parents view their child, what they expect from the future, and the ways in which they will (or won’t) seek help. People delivering this news wield a tremendous power—that of either giving hope or taking it away. As such, they have a responsibility to get it right.

I now firmly believe that medical professionals delivering a diagnosis to a family should do so in person and in private. They should stick to the facts, leave off terrifying, irrelevant details, and be cautious with the words they use. If a doctor is not an expert in a particular disease or disorder, they should make this clear and refer patients to a specialist. Before anyone leaves, family members should be connected to the right resources and support groups.

I have also come to realize that parents like me—whose child already has a diagnosis—can play an important role too. We can mentor newly diagnosed families, make them aware of current treatments and therapies, and tell them about any relevant research or medical advancements in the field. Most importantly, though, we can give them hope. As families grieve, process, and re-envision their future, they need things to look forward to.

JJ’s Rett Syndrome diagnosis has resulted in many positive things for our family. My daughter is enrolled in a special education preschool she loves, has developed new modes of communication, managed to regain some balance while walking, and experiences far fewer breath holding episodes. I’m not doing too badly either. I have connected with other families in the Rett community, begun a blog for parents of children with disabilities, and started raising awareness about my daughter’s disease by publishing articles.

If I could call that doctor back and tell him one thing, it would be this: JJ’s Rett Syndrome has not resulted in tragedy. Instead, it has allowed our family to build helpful new connections, locate the right therapies and medications, and understand things that never made sense before. Finally, after years of searching, worrying, and wondering, we are on the right track.

Every day, millions of medical professionals have to deliver unexpected, painful news to families. These are uncomfortable conversations, to be sure, but they don’t have to be catastrophes. Instead, parents can leave with determination, hope, and a sense of purpose if we all focus on the most important goal together—the progress that can be made, not despite a diagnosis, but because of it.

Getty image by Oleg Breslavtsev

Originally published: December 14, 2022
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