She was bent over in excruciating pain, one hand under her belly, the other hand steadied her body against the wall. I was flat on my back being wheeled out of the operating room after an emergency C-section. For a single moment, by rare coincidence, my colleague and I shared the same hospital hallway. In a flash she was gone. I was whisked away to recovery, and Christine was left gripping the hallway handrails, enduring the pains of labor.
Our daughters were born hours apart. We experienced those first blissful days of motherhood a few doors from each other, sharing a hallway and a bond with our daughters. We held them, fell in love with them, and dreamed about their futures, never imagining one life would potentially be cut short.
I never thought about that hallway encounter again until a few months ago when Christine shared a video on Facebook. Beautiful images of her smiling daughter, Iris, filled the screen on my laptop. Then text began to float over the images.
Degenerative. Fatal. No Cure.
7 years after we shared a hospital hallway, and a few months after her devastating post on social media, we’re driving to lunch on my invitation. Almost immediately, a date quietly slips off her tongue, August 26, 2013. I almost miss it, and then I realize this date is important. This is the day Iris was diagnosed.
On August 26, 2013, Christine and her husband Doug learned that 5-year-old Iris has a terminal degenerative neurological condition called Juvenile GM1 Gangliosidosis. There is no treatment. There is no cure.
They were completely blindsided. Despite troubles with Iris’ speech and motor skills, they were told her development was normal. Even after visiting a neurologist, they were assured nothing was wrong with Iris and that further testing was unnecessary. Later, a developmental pediatrician told them that Iris had mild athetoid cerebral palsy. Christine remembered thinking, “OK, that’s fine. So she’ll have speech and walking issues. I can handle that.” Unfortunately, the misdiagnoses they received were common. After two years and a visit to a different neurologist, a series of new tests confirmed an accurate diagnosis and their worst nightmare.
As we’re waiting in line to enter the restaurant I start chatting about my own 7-year-old daughter. After rambling for a few minutes, I stop myself and say, “Well, you know how it is with 7-year-old girls.” Without hesitation she says, “Actually, I don’t. Think of Iris as a 4-year-old. She doesn’t really have friendships in the way other children do. She doesn’t have play dates. We were at a birthday party recently with other 7-year-old girls and they were all very nice, but she couldn’t keep up. It’s more like they are taking care of her instead of her peers.” And then it sinks in.
Juvenile GM1 is a slow, progressive disease that destroys nerve cells in the brain and spinal cord. Christine uses the words “inhumane” and “cruel” to describe the progression. She tells me they hope Iris will live many more years, perhaps even into her teens or twenties, but they don’t know how well her quality of life will be maintained. She explains that juvenile cases start getting pretty extreme by age 9 or 10 and many of the affected children lose the ability to speak, to swallow, and to move their limbs. Some become blind and deaf. The list of possible complications is frightening and extremely long.
Christine remains composed throughout our conversation. She speaks with great intelligence, understanding, and compassion. It’s only as we exit the restaurant and head for my car, I see a glimpse of vulnerability. She asks more to herself than to me, “What am I going to say if this ends tragically? I think about what I may have to post on Facebook. Right now I keep everything so positive.”
What Christine posts on social media is important. It led to the development of a foundation that she and her husband started. She tells me, “In the beginning at least one of us was crying daily. Anyone will tell you, it ruins you for a few months. Doug didn’t want to tell anyone. He was afraid someone would tell Iris or her younger brother (who does not have the disease) that GM1 is fatal. Then you start to process and you start researching as a way of dealing. My way was to organize information and be proactive about the services and benefits we could get for her.” What they also did was start fundraising to provide money for medical research and find a cure.
In the past 7 months, Christine and Doug have raised an astounding $485,000 for their nonprofit the Cure GM1 Foundation. The gene therapists and scientists funded by the foundation are working towards a clinical trial in 2017. The therapy being developed could potentially cure children in a single treatment. Christine believes $500,000 might be enough to get a drug to the FDA for clinical research trials.
For Iris, it’s a race against the clock. She takes experimental meds and follows a special diet to slow the progression of the disease. If the meds work, and they’re lucky, they will be on the cusp of when the clinical trials hit.
I ask her if she has hope for Iris. She pauses briefly and says, “My hope is measured. We know the odds. We try to stay optimistic because it’s a nicer way to live. We don’t know how much time we have left so we live day to day and focus on the small things like smiles, cuddling, dancing with her.”
I want to tell her she is a hero. That what she has done for Iris and the rare disease community is nothing short of remarkable. I want to tell her that I don’t know how she does it, and that if I were in the same situation, I would fall apart. But I know what she would say—if she didn’t get mad at me first. She would tell me that she is no hero, and that if I found myself in the same circumstances, I would do exactly the same as she has done—like most parents would do.
So what I will say is this, Christine, you are a really great mom. You’re a reminder that the very best part of parenting is about today. For all parents, that’s all we can ever be sure of.
This is Christine and her beautiful daughter, Iris.