A Stolen Moment -- CMT4J Natural History Study, Dallas

“So what does it feel like, to be standing here right now? Seeing your daughter finally here?”

It is a loaded question, for sure. I feel caught in the glare of the bright, white camera lights. Caught in a moment, as I stand, in the UT Southwestern research room, as part of our CMT4J Natural History Study-- its perimeter rimmed with the actors who play various roles in this important step along the seemingly endless road to a gene therapy treatment for our daughter and others with her disease.

And even though this was a question I had reviewed in my head, knowing we would be standing, once again, in front of the media to share the story of our beautiful daughter and our journey toward a clinical trial—a treatment for such a rare disease--I am at a loss for words.  

Our Principal Investigator (PI) dutifully types in notes from her neurological exam with Talia. A couple of research nurses stand at the ready. A study monitor quietly watches from a corner of the room, ensuring that all parties follow the rules. The cameraman and communications team members stare at me expectantly. My husband dutifully stands in another corner, playing a role that I know is often all too frustrating for him. He might refer to it as “bench warmer”, “understudy”, or worse--“second fiddle”. I refer to him as “my rock”.

An hour or so earlier someone announced that it was our PI’s Birthday today. Talia, in turn, dutifully and excitedly directed everyone in the room to sing a round of “Happy Birthday”. We all simultaneously smiled and sang in unison, slightly off-key, everyone more than a little surprised to find themselves-- unexpectedly grateful for a moment of levity--joining in song at the command of a small, pale girl in a wheelchair.

I knew these tiny fingers so well--the typically meaty, fleshy part between the joints of each digit replaced by swollen, fatty, useless tissue. I had held these little hands in my own so many times over the years—

The physical therapist gathers her tools after testing Talia’s ability to pick up, turn over and replace 16 wooden cylinder pegs into holes on a wooden board, using only her fingers to manipulate the thick dowels into place, as a timer clocks how long this seemingly simple task takes her to complete.

*                                         *                                         *

Talia’s first attempt with smaller, thin, white, plastic pegs had ended in frustration, each one slipping one by one from the tiny, distal pads of her fingertips, falling to the floor or the footplate of her wheelchair. I breathed a small sigh of relief as the plastic peg board was replaced by the larger, wooden one—easier for her little fingers to hold onto. Still, I doubted her ability to flip even one at this point.


I knew these tiny fingers so well--the typically meaty, fleshy part between the joints of each digit replaced by swollen, fatty, useless tissue. I had held these little hands in my own so many times over the years—when she first slipped into this world, a helpless newborn. Later, clamped around my forefinger in a death-grip, tight squeeze as she walked haltingly--but all by herself--down the long sidewalk and into her school. And then, later still, to comfort the small, heartbreaking tears of a toddler through the third or fourth attempt at getting in an IV, or in the confusing, drugged, painful hours following a surgery, waking up to discover her body entombed in a cast from chest to toes.

These fingers—these hands—would not be held up to mine to compare growth and reminisce about the growing wonder and skills they held—a scene so commonplace between a parent and child—from the progression of holding a tiny rattle, to playing the piano, or holding a lacrosse stick—or even a pencil.

These hands held joy and wonder, for sure, but also so much heartache and loss—tiny maps for the landmarks and direction of such a horrific, relentless disease.

*                                         *                                         *

Because Talia can no longer lift up her arms, I was allowed to sit behind and support her in this task. The test was designed to assess hand and finger sensation, strength and dexterity, not arm strength. As I cradled her limp arm in my hand, I held my breath as the trial clinician started her stopwatch. Talia gently fingered the first peg, concentrating hard—her “game face” sincere and earnest. I’m not sure if she understands what this means, if anything, in our larger quest to get a gene therapy treatment for her—to possibly quiet, halt or reverse the profound weakness, the breathing difficulties,—the helplessness and never-ending slide toward complete quadriplegia and the ever-present possibility of dying from a mere cold.

To her it is a game or challenge, with an audience and cameras and lights—something she’s become quite accustomed to over the past three years.

“I’m famous.” I overheard her say to the research coordinator, as we settled into our routine earlier in the day, a proud smile spread across her face.  

Gingerly, she rolled and turned the wooden dowel between her fingers. It nearly slipped through and I was prepared to accept that this was yet another ability lost. But when I looked again, she had eased its end into the hole, flipping it from black to white, and was already, guiding my hand—her arm—to the next one.

Before I knew it the second one is flipped and she realizes the entire room was watching her.

“Clap for me!” she commanded. Everyone smiled and dutifully clapped. Little did they know she will request this after each and every peg.

By now I had let myself breathe as I stared, in wonder, at how many pegs she has flipped—how many times her endearing audience had cheered for her. It was by no means fast. But she could do it. That, alone, was enough for me. And then, as she gently placed the very last peg into its hole, the entire room erupted in a loud “Hooray!” My hand still cradling hers, she gently pushed the board away, its sixteen pegs standing tall, at the ready, in their neat, little rows. Talia looked down upon them and proclaimed quietly, with so much satisfaction, “Candles for Dr. Castro”.

*                                         *                                         *

I cannot give them what is in my heart. It is not what they want to hear. It is not what I want to share.

I fight back a single tear, as I realize the significance of the moment—not just in succeeding at the task, not just in the milestone that all of this is, along our clinical trial journey, but in the thousand layers of resilience, complexity and joy that is Talia.

And also this. That we are not here for a treatment. We are not there yet. It has been so long. It will be longer. We have come so far, so fast. Not fast enough for Talia or others.

I turn back to the camera and try to convey all of this in a few tangible soundbites.

“Well, it is so incredible and difficult all at once…we have watched Talia lose so much just since we were here last.” I see her watching me out of the corner of my eye. I am careful about what we discuss in front of her. What child wants to hear about their lost abilities and life-threatening disease?

“But we have so much hope for the future… It is amazing to feel progress.”

I cannot give them what is in my heart. It is not what they want to hear. It is not what I want to share.