By: Jenna Matthews
Date: Sept. 30, 2023
She was hunched over in intense discomfort, one hand cradling her belly while the other braced against the wall. I was being transported on a gurney, flat on my back, after an emergency C-section. In a fleeting moment, our paths crossed in the hospital corridor. Then, just like that, she vanished, while I was taken to recovery, leaving her gripping the handrails, enduring the trials of labor.
Our daughters entered the world mere hours apart, and we savored those first precious days of motherhood just a few doors away. We held them, fell head over heels in love, and envisioned bright futures, never foreseeing that one life could face such unimaginable challenges.
I didn’t reflect on that fleeting hallway encounter until recently when Emma shared a video on social media. My screen filled with vibrant images of her joyful daughter, Lily. Then, overlaying those images, words began to emerge: Degenerative. Terminal. Untreatable.
Seven years after our brief hospital meeting and a few months following her heart-wrenching post, we found ourselves on the way to lunch—my invitation. Almost unconsciously, she mentioned a date: July 12, 2016. It took a moment for me to grasp the significance. This was the day Lily received her diagnosis.
On July 12, 2016, Emma and her husband, Tom, discovered that their 5-year-old daughter Lily was afflicted with a terminal degenerative neurological disorder known as juvenile GM1 gangliosidosis. There is no remedy. There is no escape. They were completely unprepared. Despite previous concerns about Lily’s speech and motor skills, they had been reassured that her development was within normal limits.
As we waited to enter the restaurant, I began to share stories about my own 7-year-old daughter. After a few moments of chatter, I caught myself and said, “Well, you know how it is with 7-year-old girls.” Without missing a beat, she replied, “Actually, I don’t. Lily functions more like a 4-year-old. She doesn’t grasp friendships the way other kids do. Playdates are a rarity. We attended a birthday party recently, and while the other girls were kind, she couldn’t keep pace. It felt more like they were caring for her than being friends.”
The reality of juvenile GM1 hit me hard as Emma explained its slow, relentless progression, which causes the deterioration of nerve cells in the brain and spinal cord. She described it as “inhumane” and “cruel.” Though they hope for many more years with Lily, they remain uncertain about her quality of life as time passes. Emma explained that by ages 9 or 10, many children with this condition face severe challenges, including loss of speech, mobility, and even sight. The list of potential complications is daunting and extensive.
Throughout our conversation, Emma maintained her composure, speaking with intelligence, empathy, and clarity. It wasn’t until we stepped outside and approached my car that I caught a glimpse of her vulnerability. She mused aloud, “What will I say if this ends poorly? I often think about what I might post online. Right now, I try to keep everything upbeat.”
What Emma shares on social media holds significant weight. It has helped give rise to a foundation she and Tom initiated after the harsh reality of Lily’s diagnosis set in. “In the beginning, at least one of us was in tears every day. Everyone will tell you, it shatters you for months. Tom was reluctant to tell anyone; he feared someone would reveal to Lily or her younger brother, who isn’t affected, that GM1 is fatal. Then you begin processing and researching as a coping mechanism. My approach was to organize information and actively seek out services and benefits for her.” They also began fundraising to support medical research aimed at finding a cure.
In just seven months, Emma and Tom have remarkably raised nearly $485,000 for their nonprofit, the Cure GM1 Foundation, with a target of reaching $1 million. The gene therapists and scientists they’ve funded are working towards a clinical trial slated for 2025. The therapy being developed could potentially cure affected children in a single session.
For Lily, time is of the essence. She is on experimental medications and adheres to a specialized diet to slow the disease’s advance. If the medications are effective and fortune smiles upon them, they may be right on the brink of the clinical trials.
When I asked Emma if she held out hope for Lily, she paused, reflecting carefully before responding, “My hope is cautious. We are aware of the odds. We strive to remain optimistic because it makes living easier. We don’t know how much time we have, so we focus on the small joys—like smiles, cuddles, and dancing with her.”
I want to tell her that she embodies heroism, that her efforts for Lily and the rare disease community are nothing short of extraordinary. I want to express my admiration for her strength, and how I would likely crumble under similar circumstances. But I can already hear her response—if she didn’t snap at me first. She would insist that she is no hero and that any parent in her position would do precisely what she has done.
So, what I will say is this: Emma, you are an exceptional mother. You remind us that the most meaningful aspect of parenting lies in the present. For all parents, that’s the only certainty we possess.
For further insights into parenting and home insemination, check out this excellent resource on pregnancy and home insemination, as well as this informative article on balancing IVF treatment with a full-time job.
Summary:
This narrative reflects on the challenges faced by parents of children with terminal illnesses, focusing specifically on Emma and her daughter Lily, who is diagnosed with juvenile GM1 gangliosidosis. Emma shares her experiences of coping with the diagnosis while raising funds for research and maintaining a sense of hope. The story emphasizes the importance of cherishing the present in parenting.