de novo

“Your daughter has an ultra-rare genetic mutation called NALCN gene disorder with variable contracture/CLIFAHDD syndrome”, the doctor shared through my iPhone.

“We recommend you and your husband undergo genetic testing to see who carries the gene for future family planning and generational knowledge.”

My ears heard every detail and my sweaty hands wrote down every word but my brain converted all of it to Charlie Brown’s momma’s trombone voice, “Waah, wah whah, I’m her mother. Waaah waah waah wah. Whatever genes she has, waah wah, good or bad, waahh, are from me. Waaahhh.”

By this point in my life, I have sat down with hundreds of mothers who have children with a variety of disabilities, special needs, and diagnoses. It doesn’t take long before the story-sharing leads straight into the arms of guilt. Many of us, somewhere along the way, hold heavy, sometimes palpable, guilt. 

“Was it something we did? Something we ate? Something we took? Too much stress? Too much sushi? Was it the freakin’ hot tub? Was it that fever? Was it the Dollar Store Tylenol I took for the fever?”  

Isla’s very first diagnosis at age 5 was autism, and without any concrete answers from the medical world about its source or cause, our conversation would usually end with knowing smirks, understanding shrugs, and more sips of caffeine. We would always land on, “I guess we will never know.”

This time, it was different. 

Isla’s genes, her DNA and actual cells were formed, created and knitted together inside MY body. 

Me. I’m the problem. It’s me. (Sorry, that was too tempting.)

I had a flashback to the insane amount of Taco Bell I ate when Isla was growing inside me. But surely, SURELY there wasn’t fresh sodium channel malfunction swimming around in the burrito supreme? Oof. 

The home genetic tests sat on my desk for a year and a half. One for me. One for my husband.

Maybe it was fear. Maybe it was apathy tied around the waist of depression. Maybe it was trauma. Maybe it was anger. 

I used those two unopened cardboard boxes as coasters, paper weights, and wedges to lift my screen for ZOOM calls. Until finally, when so much time passed they expired, I hid them and shame quickly nestled into their place. 

Whatever it was, I made a thousand excuses until eventually it became mandatory to complete the tests in order to continue Isla’s services and we were sent new boxes.

In our kitchen, just two high school sweethearts that decided to do life together and grow a family, swabbed our cheeks while Isla giggled and cheered for us not having the slightest idea of the implications.

We smiled back, wiping the remnants of cotton swabs from our lips, and let FedEx do its job. 

The results arrived many months later by email with two words underlined by the doctor.

De novo.

In the genetic world, de novo means the mutation occurred for the first time in that person which means it is a mutation that was not inherited from a parent.

The summary: Isla’s gene disorder appeared out of thin air. 

I read the two words silently, then through tears and a faint smile said three words out loud, “It just is.” 

Brave reader, a lot of my work in the past two years has been focused on radical acceptance. One day I will write much more about this but for now, just know that radical acceptance does not define something as good or bad, positive or negative, a blessing or a curse. With deep undertones of wisdom and peaceful surrender, radical acceptance says – it just is. 

This does not signify apathy nor frustration. But instead, it has helped me lead a life where each day I choose to surrender to the grander plan. I choose to believe that the zoomed out version of my life is good, gorgeous even, and to zoom in close on tiny painful increments of time and call it a tragedy is neither helpful nor correct. I also am learning a lot about suffering and pain and what sets them apart. I now believe there is a direct correlation between suffering and acceptance. The more we delay acceptance, the more we suffer. While pain is inevitable, perhaps suffering can be softened.

And so, with those two underlined words, beauty found its way into the story.

De novo is a Latin term that in the literary world it means “anew,” “from the beginning,” “afresh,” or “for the first time.”

Our Isla’s life was not an accident nor was her life a mistake or the result of any wrongdoing or excessive hot sauce intake. 

Quite the opposite. 

She was carefully chosen, intentionally set apart, to endure something rare that allows her and her family to live and view every day as if it is their first day, not their last. 

She was hand-picked for those two high school sweethearts to make sure that every day when they open their eyes, with real gratitude, they get to experience the world, de novo.