How We're Weathering the Storm of Our Children's Terrifying Diagnosis

She laid back on my lap, shirtless and limp, her torso pressed against mine, her skin warm under my hands as I rested them on her soft baby skin, trying to keep her from slipping off my lap. We’d been in the doctor’s office for hours at an appointment we’d anticipated for well over a year. We had no idea what to expect, no idea what was quietly waiting for us inside pandora’s box.

The doctor, a small elderly woman, silently examined every part of my sweet girl. She looked at her in ways I’d never seen anyone look at my child, overturning every piece and part of her until her body was memorized as deeply as the medical records that sat before us. When she was satisfied with her assessment, she stood up and walked across the room. She faced the wall for a few moments, again silent. I was still unsure what to expect, but the moment was starting to build within me. It had been clear over the first three years of our daughter’s life that something was simply not allowing her body to do what bodies should naturally do. But all of our paths to hopeful answers had only led to dead ends and more questions.

A few moments passed before the doctor returned to where we sat. She placed her hand upon my daughter’s unclothed thigh and gave it a gentle pat. “Here it was,” I thought to myself. Another specialist with no idea, just a patronizing pat and a lollipop for the little one. Just as I was about to dress my sweet girl and pack up our diaper bag, the doctor placed her hand on my shoulder. She looked me in the eye, sending an instant chill down my spine.

“I think your daughter might be suffering from something called mitochondrial disease,” she said, her gaze still burning into my eyes. I stared for a moment, unsure of what was going on, unsure of what to say, unsure what it was she was even saying.

“I’m sorry, what?” I turned my sweet baby around to face me, pressing her cheek to my shoulder, as if protecting her from hearing the words “disease” could somehow stop her from having one. She began to whimper slightly from the sudden change of atmosphere that now filled the room.

“Mitochondrial disease. It is a metabolic disease. It is quite complicated in nature, difficult to test for, but your daughter has a lot of symptoms of the type of progression and organ system dysfunction we tend to see. We will want to start running some panels of labs, I will give you a letter for the emergency room and…”

“How sure are you that she has this?” I cut in.

She paused, taking a moment to think, quieting her voice. “As sure as I can be without the testing.”

My mind trailed off. I didn’t understand what any of this meant. I’d never heard of this disease, ever. The last time I had heard the word mitochondria was in biology class in high school, and I was too busy passing notes back and forth with my boyfriend to even color the cell diagram in correctly. What could this thing even be? If I hadn’t heard of it by now how bad could it possibly be?

“Mommy, go, now!” My sweet girl began arching her back trying with all her might now to break the tension and silence, to go back from where we once came.

“Hang on, baby,” I said adjusting her again on my lap. I was trying so hard to formulate some kind of question, to reason with myself to say something that would put together my thoughts and make sense of this, but how do you know where to begin when you have no idea where you are even going?

“It’s genetic,” she said cutting the silence. “It is passed with a 25 to 50 percent rate, depending on the inheritance type.” The air got even thicker. I still didn’t know what we were dealing with, but I knew a few things. I knew my daughter was struggling quite a bit. I knew her doctors were worried. I knew her body systems were getting stressed more and more as she got older and she was picking up more and more systemic problems every year, and I knew this doctor was saying it could happen again. Then it hit me — where she was going with this — and her words hit me so hard the wind knocked clear out of me.  “You told our genetic counselor that you are expecting again, and that you are in your first trimester.  We don’t like telling parents these types of things, but we can get a rush on some of her testing so that you and your husband can consider aborting if she does have it.”

I couldn’t breathe. I put my hand on my stomach and opened my mouth. I tried to make words and couldn’t, the air falling short of my lips. I pulled my daughter a little tighter as my heart began to beat faster. Her words emotionally threatened not only the life of my unborn baby, but also my sweet girl, because it was at that very moment I realized just how serious this unknown disease must truly be. For a doctor to even consider suggesting a parent question the ethics of possibly bringing another child into this world, I knew we were facing possible devastation with not only one but two children.

The answer would come later that year for our daughter. She did in fact have mitochondrial disease; so does our son, who was born just seven months after we heard those words leave the doctors lips. It is every bit as devastating a disease as we could have possibly imagined, only more.

There was a lot that doctor could have explained to us that day, but she never could have told us the truth of it. She never could have told us we would spend so many sleepless nights holding them in hospital rooms wondering how many more birthdays they would get.  She never could have told us we would spend months working tirelessly on developing skills that other children would learn naturally, only to watch them lose them again after simple illnesses. She never could have told us we would have an even more tremendous hope and joy of seeing them achieve. She never could have told us how we would learn to renegotiate every single priority, expectation, appreciation until we would find ourselves discovering unimaginable joy in just the feeling of our child’s skin.  She never could have told us the sorrow we would feel as our friend’s children were laid to rest, as we watched them weep with empty arms and broken hearts. She never could have told us the fear we would have, knowing that one day this beast would also likely claim the lives of our children. I suppose she could have told us, but we never would have understood.

Mitochondrial disease is a constant weathering of the storm. It’s roaring winds and weeping waters. It has a cruel and destructive path. It has been dark and raining for far too long. We’re waiting for a ray of light, a glimpse of a rainbow, the sun peeking from behind the clouds. We’re standing here with an umbrella made of prayers and only hope to keep us floating, waiting desperately on a cure.

This post originally appeared on Learning to Let Go: A Different Dream for Us.

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