By: Sarah Jennings
Date: September 30, 2015
She leaned against the wall, visibly distressed, one hand cradling her abdomen while the other sought support. Meanwhile, I lay flat on a gurney, being wheeled out of the operating room following an emergency C-section. In a brief moment of serendipity, my colleague and I crossed paths in the hospital corridor. Just like that, she was gone, and I was taken to recovery while she faced the harsh reality of labor.
Our daughters entered the world just hours apart. We experienced those initial joyful days of motherhood just a few doors away from one another, united by our shared experiences and dreams for our daughters’ futures—never once considering that the journey could take such a tragic turn.
I hadn’t thought about that fleeting encounter until recently, when my friend Laura posted a heartfelt video on social media. The screen was filled with joyful images of her daughter, Mia, but as the visuals played, words began to overlay the images: Degenerative. Terminal. No Cure.
Seven years after our hospital moment, Laura and I found ourselves heading to lunch, and during our conversation, a date slipped from her lips—March 15, 2016. I didn’t grasp its significance until she clarified that it marked the day Mia was diagnosed.
On that day, Laura and her husband Tom received the devastating news that their five-year-old daughter, Mia, was diagnosed with a terminal degenerative neurological disorder known as GM2 gangliosidosis. There is no treatment. No cure. They felt utterly blindsided. Despite some developmental delays in Mia’s speech and motor skills, they had been assured that her progress was typical.
As we waited to be seated, I began talking about my own seven-year-old daughter. After a brief ramble, I caught myself and said, “You know how it is with girls that age.” Without missing a beat, Laura gently corrected me. “Actually, I don’t. Think of Mia as a 4-year-old. She doesn’t have friendships like other kids do. She doesn’t have playdates. At a recent birthday party, the other girls were sweet, but she just couldn’t keep up. It felt more like they were caring for her than enjoying her as a peer.” The weight of her words hit me hard.
GM2 gangliosidosis is a progressive condition that destroys nerve cells in the brain and spinal cord. Laura describes the progression as “inhumane” and “cruel.” They cling to hope, wishing for more years with Mia, potentially into her teens or twenties, but they remain uncertain about her quality of life. She explains that severe symptoms often emerge by age nine or ten, with many children losing the ability to speak, swallow, or move. Some may even become blind or deaf. The potential complications are extensive and terrifying.
Throughout our conversation, Laura maintains her composure, speaking with clarity and empathy. However, as we exit the restaurant, a flicker of vulnerability emerges. She wonders aloud, “What will I say if things take a tragic turn? I keep everything so positive on social media.”
What Laura shares online is crucial. It led to the creation of a foundation she and Tom established after grappling with Mia’s diagnosis. “In the beginning, at least one of us cried every day. It’s devastating. Tom was hesitant to share the news, fearing that someone might tell Mia or her younger brother, who does not have the disease, about GM2’s fatal nature. But you start processing and researching as a way to cope. I began organizing information and seeking proactive services and benefits for her.” They also began fundraising to support medical research.
In just seven months, Laura and Tom have raised an impressive $485,000 for their nonprofit, the Cure GM2 Foundation, with a goal of reaching $1 million. Scientists and gene therapists funded by the foundation are working towards initiating clinical trials in 2017, aiming for a potential cure through a single treatment.
For Mia, time is of the essence. She takes experimental medications and adheres to a special diet to mitigate disease progression. If the medications prove effective, they hope to align with the start of clinical trials.
When I ask Laura if she holds hope for Mia, she pauses briefly before responding, “My hope is measured. We understand the odds. We try to stay optimistic because it’s a better way to live. We don’t know how much time we have left, so we focus on the small joys—like smiles, cuddles, and dancing.”
I want to express how heroic she is, acknowledging the incredible effort she has put forth for Mia and the rare disease community. But I know she would dismiss the compliment, insisting that any parent in her position would do the same.
So instead, I simply say: Laura, you are an exceptional mother. You remind us all that the essence of parenting lies in cherishing the present moment. That’s all we can truly count on.
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In summary, this heartfelt narrative highlights the resilience of parents facing unimaginable challenges while emphasizing the importance of living in the moment.
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