How a Diagnosis Can Make All the Difference for Medically Complex Children

While working at my home computer one late spring morning, I heard the muffled sound of water running. Any parent knows that when this sound doesn’t stop, a mess usually follows. The sound wasn’t stopping.

I had left my 9-year-old daughter in the family room listening to music. My boys – ages 15 and 13 – were in the basement with a friend. My bet was on the boys. So I hopped down the steps to check on them. They were glued to video games, nowhere near water of any kind.

Back up the steps I went, and there I noticed water splashed across the kitchen window. Had it started to rain? I leaned out the back door to check. No rain. Just my daughter on the patio with the garden hose.

Wait. What?

How had Anna slipped outside without my hearing the storm door slam? She was in her pajamas, pointing the hose toward the sky, flinging water back and forth with sheer joy on her face. The dog – fine protector that he was – was pretty happy too, sopping and loping around the yard. Spread on the concrete was a set of books.

“What are you doing?” I asked after springing down the deck steps toward her.

“I’m cleaning the house!” The words came happily from her beaming face.

Well, of course you are. And the books? Yep. She was cleaning those too.

I’m reminded here of those commercials for household cleaners. You know the ones: The children streak goo across immaculate kitchens and the moms just smile and get out their paper towels or spray cleaners or whatever the pitched product happens to be and clear the mess in no time. I’ve often wondered why the moms never scream, “This is the fifth time today I’ve had to clean up after you!”

That day I was a commercial mom. I stayed calm and smiled and actually found amusement in the whole episode. I didn’t have a handy product to promptly dry the dog and the books, not to mention the girl, who tends to have seizures when she gets chilled. But I did have a reason to be more accepting of the situation.

Just a little more than a week before, I sat in a neurologist’s office at Cincinnati Children’s Hospital Medical Center where Anna’s doctor reviewed test results with me. He explained that a spontaneous genetic mutation was the cause of the uncontrolled seizures she had suffered since she was 11 months old. The results pointed to Dravet syndrome, a life-threatening, rare and severe epilepsy that often resists medication and impairs cognition, physical abilities and behavior.

I was stunned.

While I had just received the news and couldn’t fully understand its implications, I did understand that after almost nine years of seizures and medicines and hospitalizations, after the ketogenic diet and the vagal nerve stimulator and brain surgery, after years of uncertainty and unpredictability and more questions than answers, we had a diagnosis. I don’t generally cry in front of medical professionals, but I found myself blinking away tears.

“I’m sorry. Is this sad news?” her neurologist asked me.

 “No.” I said. “It’s just that… ” Words spun in my head.

 “It’s just that it’s been so long,” he said. “And you didn’t do anything wrong.” 

 “Yes!”

It wasn’t a good diagnosis, to say the least. But I had known for a long time that Anna’s medical condition was a severe one. Now it had a name. That name was a drop of water in the river of our lives; it sent ripples out in all directions.

With that name came a sense of relief from at least some of the mystery. With that relief came a greater acceptance of my daughter’s challenges. And with that acceptance, came an even greater sense of love and appreciation for her spirit.

As bad as it was, the diagnosis helped settle my spirit. For years I had questioned and second-guessed myself. But I wasn’t losing my mind. The physical and cognitive impairments, the trouble with speech – these were real and not the result of something we did or didn’t do — or necessarily from the constant changing of medicines and doses as we searched for seizure freedom. The diagnosis helped me help my daughter.

With the name “Dravet syndrome” came information that I had never had before, such as which medicines may help and which may hurt, which treatments are more likely to work, and which therapies are beneficial. The name connected us to other families dealing with the same diagnosis, other children who reminded me of my own. We met families from Northern Kentucky, Cincinnati, around the country, across the world. We were no longer alone.

Years have passed since Anna’s diagnosis. Thanks to the work of advocates and researchers, doctors now know more about Dravet syndrome. Children get diagnosed younger and find helpful treatments sooner, and I pray that is leading to better outcomes. But still children with Dravet syndrome have disabilities. Still, I sit in front of my computer and cry after reading about yet another young life lost to this catastrophic epilepsy. Still families live with anxiety and fear caused by unpredictable and uncontrolled seizures. Much work is left to do.

While questions and difficulties remain, I am thankful for a diagnosis. It has helped me to be more focused as our family faces its challenges. It has also helped me to be more understanding so that at times like that water-dappled spring morning, I can find joy in a giggling, pajama-clad girl cleaning the house with a garden hose.