She was leaning against the wall, gripped by intense pain, one hand clutching her abdomen while the other steadied herself against the cold surface. Meanwhile, I was being wheeled out of the operating room after an emergency C-section, lying flat on my back. In an unexpected moment, my colleague and I crossed paths in the hospital corridor. In the blink of an eye, she was gone, left to endure the agony of labor as I was taken to recovery.
Hours later, our daughters entered the world just doors apart from one another, creating a bond that would tie us together as we navigated the early days of motherhood. We cradled our newborns, fell in love, and dreamed of their futures without a thought that one life might face a tragic end.
That chance encounter in the hospital faded from my mind until a few months ago when Claire shared a video on social media. As I watched, beautiful photos of her cheerful daughter, Lily, filled my screen, but then words began to appear over the images: Degenerative. Terminal. No Cure.
Seven years after we shared that hospital corridor, Claire and I were driving to lunch. As we chatted, a date slipped from her lips, “April 14, 2016.” I nearly missed it before realizing its significance. This was the day Lily was diagnosed.
On April 14, 2016, Claire and her husband Mark learned that their daughter, then 5 years old, was afflicted with a terminal degenerative neurological disorder known as juvenile GM1 gangliosidosis. They were blindsided by the news, having been reassured that Lily’s speech and motor skills were developing normally despite their concerns.
As we waited to enter the restaurant, I started sharing anecdotes about my own 7-year-old daughter. After a few moments, I casually said, “Well, you know how it is with 7-year-old girls.” Claire’s immediate response struck me: “Actually, I don’t. Lily functions more like a 4-year-old. She doesn’t really have friendships like other kids. She doesn’t have playdates. At a recent birthday party with other 7-year-olds, they were all very kind, but she struggled to keep up. It felt more like they were caring for her than playing with her.” The weight of her words settled heavily in the air.
Juvenile GM1 is a progressive disease that damages nerve cells in the brain and spinal cord. Claire described its progression as “inhumane” and “cruel.” While the family hopes Lily will have several more years, possibly into her teens or twenties, they are uncertain about the quality of her life. Claire explained that symptoms generally worsen drastically by ages 9 or 10, with many children losing the ability to speak, swallow, or move. Some may even become blind and deaf, and the list of complications is long and daunting.
Throughout our conversation, Claire maintained her composure, speaking with insight and empathy. However, as we left the restaurant and approached my car, a fleeting moment of vulnerability appeared. She pondered aloud, “What will I say if this ends tragically? I often think about what I might have to post online. For now, I keep things positive.”
What Claire shares on social media has significant importance. It led to the establishment of a foundation she and Mark created after grappling with the reality of Lily’s diagnosis. “In the beginning, at least one of us cried daily. It shatters you for months. Mark was hesitant to tell others, fearing someone might disclose Lily’s condition to her or her younger brother, who does not have the disease. Then you begin to process the information, and research becomes a coping mechanism. My way was to gather data and proactively seek out services and benefits for her.” They also began fundraising efforts to support research aimed at finding a cure.
In the past seven months, Claire and Mark have raised an impressive $485,000 for their nonprofit, the Cure GM1 Foundation, with a goal of reaching $1 million. The researchers funded by the foundation are working towards a clinical trial scheduled for 2027. This potential therapy could offer a cure with a single treatment.
For Lily, time is of the essence. She is currently on experimental medications and adheres to a special diet to slow the disease’s progression. If the treatment proves effective, they may be on the brink of the clinical trials soon.
I asked Claire if she held hope for Lily’s future. After a brief pause, she replied, “My hope is measured. We understand the odds. We strive to remain optimistic for a better quality of life. Since we don’t know how much time we have left, we focus on daily joys—like smiles, cuddles, and dancing together.”
I wanted to tell her that she is a hero, that her advocacy for Lily and the rare disease community is extraordinary. I wished to express how I could never fathom managing such a situation without unraveling. But I knew she would dismiss the notion, insisting that if I faced similar circumstances, I would do the same as she has done—what any parent would do.
So, I will simply say this: Claire, you are an incredible mother. You exemplify that the essence of parenting resides in cherishing today. For all parents, that is the only certainty we possess.
For additional information or to make a donation, visit Cure GM1 Foundation and this excellent resource for pregnancy and home insemination support.