She was doubled over in agony, one hand clutching her abdomen while the other braced against the wall for support. I was being wheeled out of the operating room after an emergency C-section, flat on my back. By a twist of fate, my colleague and I crossed paths in the hospital hallway for a brief moment. Then, in an instant, she vanished. I was taken to recovery, leaving her grasping the handrails, enduring the agony of labor.
Our daughters entered the world just hours apart, allowing us to share those initial joyful days of motherhood mere doors away from each other. We held our newborns, fell deeply in love, and made dreams for their futures without a hint of the challenges that lay ahead.
I had not thought of that hallway encounter again until a few months ago when Elena shared a video on social media. The screen lit up with radiant images of her smiling daughter, Lily. Then, text began to appear, casting a shadow over the joyful scenes: Degenerative. Terminal. No Cure.
Seven years after that serendipitous hospital meeting, as we drove to lunch, a date slipped from Elena’s lips: August 26, 2013. I nearly missed it, but then it hit me—this date was significant. It marked the day Lily was diagnosed.
On that fateful day, Elena and her husband, Mark, learned that their five-year-old daughter had juvenile GM1 gangliosidosis, a terminal degenerative neurological condition. There was no treatment, no cure. They were completely unprepared. Despite previous concerns about Lily’s speech and motor skills, they were reassured her development was on track.
As we waited in line for our meal, I began talking about my own seven-year-old daughter. After a few minutes, I caught myself saying, “You know how it is with 7-year-old girls.” Without missing a beat, Elena replied, “Actually, I don’t. Think of Lily as a 4-year-old. She doesn’t form friendships like other kids. She doesn’t have playdates. We went to a birthday party recently, and while the other girls were lovely, she couldn’t keep up. It felt more like they were caring for her than being her friends.” It was a startling realization.
Juvenile GM1 is a gradual, relentless disease that robs the brain and spinal cord of vital nerve cells. Elena describes the progression as “inhumane” and “cruel.” They hope for many more years with Lily—perhaps even into her teens—but the uncertainty looms large. By ages 9 or 10, the disease typically becomes severe, leading to loss of speech, swallowing ability, and mobility. Some children may even lose their sight and hearing. The list of possible complications is daunting and extensive.
Throughout our conversation, Elena maintains her composure, speaking with remarkable clarity and empathy. However, as we leave the restaurant and head to my car, I catch a glimpse of her vulnerability. She muses aloud, “What will I say if this ends tragically? I often think about what I might post on social media. For now, I try to keep things positive.”
Elena’s social media presence plays a crucial role. It has fostered the establishment of a foundation that she and Mark created after processing Lily’s diagnosis. “In the beginning, at least one of us cried every day. It was soul-crushing for months. Mark didn’t want to tell anyone, fearing someone might inadvertently reveal to Lily or her younger brother that GM1 is fatal. Then, we began to cope through research. I organized information and pursued services and benefits for her,” she explains. They also initiated fundraising efforts to support medical research for a cure.
In just seven months, Elena and Mark have remarkably raised $485,000 for their nonprofit, the Cure GM1 Foundation. Their aim is to reach a million dollars. Scientists and gene therapists funded by the foundation are working toward a clinical trial set for 2017, with a potential treatment that could cure affected children in a single dose.
For Lily, time is of the essence. She is on experimental medications and follows a specialized diet to slow the disease’s progression. If the treatments prove effective, they may be on the brink of clinical trials.
I ask Elena if she has hope for Lily. After a moment of reflection, she replies, “My hope is measured. We understand the odds. We strive to stay optimistic because it’s a more pleasant way to navigate life. We don’t know how much time we have left, so we take it day by day, focusing on the small joys like her smiles, cuddles, and dancing.”
I want to express my admiration for her strength, to tell her that her commitment to Lily and the rare disease community is nothing short of inspiring. I want to say that I would likely crumble under similar circumstances. But I know she would dismiss my compliment—if she didn’t get upset with me first. She would insist she’s no hero and that any parent would do the same in her situation.
So, I simply say this: Elena, you are an extraordinary mom. You remind us all that the essence of parenting is found in cherishing today. For every parent, that’s the only certainty we have.
For further insights or to contribute, visit Cure GM1 Foundation and Make a Mom for resources on pregnancy and home insemination. Additionally, MedlinePlus offers excellent information on the topic.
Summary:
In a poignant reflection on motherhood, the author shares the story of a friend, Elena, whose daughter, Lily, faces a terminal diagnosis. As Elena navigates the challenges of parenting a child with juvenile GM1 gangliosidosis, she demonstrates resilience and hope, focusing on the small joys of daily life. The piece highlights the significance of cherishing each moment in parenting, especially in the face of uncertainty.