Born March 2014 | Massillon, OH
Living with CLN1
“There was not one single night where she actually slept. At this point she was clearly regressing, but we were still under the impression that it was related to the lack of sleep.” —Ben
By nine in the morning a few motorcycles, vintage and otherwise, rumble their way into the municipal park then line up quietly on the grass. A historic candy-apple-red truck enters and slowly backs into a spot at the far edge of the lawn. There will be a full assortment by the day’s end. As others join, drivers emerge, shake hands, and open hoods. Admirers thread between cars and trucks to ogle shiny engines and impeccable interiors. The Ohio wind tousles the trophies on standby as riders and drivers register. Others cast wishes at raffle tables holding prizes from 120 donors. Some children wrestle on the outfield grass as others sit patiently in a queue at the face painting station, requesting animals, flowers, and superhero symbols. In the midst of the hubbub, Leighton lays in the arms of her two grandmothers, who take turns holding her under a large multicolored beach umbrella. Three-year-old Leighton is prone to sunburn but also gets cold easily, so the challenge of keeping her warm, while out of direct sunlight, is one that her grandmothers take seriously yet joyously.
Meanwhile Kara and Ben, Leighton's parents, welcome those who arrive for this special day, a benefit for their daughter born with CLN1, a form of Batten disease. Called “Love for Leighton,” this second-annual poker run and car show aims to increase awareness about Batten disease and raise money to help cover necessary medical expenses. In response to the immense challenges Kara, Ben, and Leighton face, their community of friends joined together to create and organize this heartfelt event, geared toward eastern Ohio motorcycle and car enthusiasts. Throughout the day, riders visit backroad stops to draw playing cards, and those with the best hand in the end—in today’s case, a flush—win a cash prize. As the bikes roar to life and depart for the poker run, classic cars compete for a “Best of” category trophy, and tickets are sold for first-rate raffle prizes. Yet, the spirit of the event t is one of collaboration, not competition. All convene for the greater good of supporting a young family at the mercy of a difficult disease.
Kara and Ben initially hoped to donate fundraising earnings toward medical research, but soon after their daughter’s diagnosis, realized that they would accrue overwhelming care-related costs. So the family pushed for more insurance coverage and also began accepting donations. Despite the fundraisers, they still need help. Ben works approximately 70 hours a week in a 110°F steel mill, instead of being home with his family. Kara still works two days a week, which covers two bills each month, yet eventually even that will become impossible. Caring for Leighton has become more difficult over time. She’s almost 40 pounds. She’s lost control of motor functions. She can’t signal pain. As Kara’s stepfather says, “Dealing with something like this consumes a lot of inner strength."
For a young couple with their first child, the impact of Batten disease has been enormous. Ben and Kara met in their twenties, and after a nine-month courtship, got engaged then married. Soon they were pregnant. At 20 weeks, Kara and Ben visited the OB-GYN hoping to discover their child's gender. Yet their ultrasound tech asked worrisome questions. "Are you sure your dates are right?” Their baby was measuring small. The ultrasound revealed markers on the bowels, a hole in the heart, and problems with circulation. Kara and the baby began testing four days a week—two at OB-GYN and two at maternal fetal medicine. Tests revealed that instead of having chromosomes from each parent on the first pair, their child had received both chromosomes from one parent. “Leighton was the first Uniparental Disomy to have ever been diagnosed prenatally,” Kara adds. Since only a handful of Uniparental Disomy cases have ever been recorded, no one knew if their baby—now a daughter—would be born with complications.
Leighton was tiny at birth; born 3 pounds, 4 ounces by C-Section at 36 weeks. Leighton was hospitalized in the NICU until she gained a few ounces and then sent home. She had some problems breastfeeding then drinking her formula, so she was given a thickener for the formula and put on oxygen for three months. She also began wearing her “signature" pink glasses at six months, which her parents first attributed to bad eyesight on both sides of their family. Although developmentally delayed, Leighton was in high spirits. Stefani, a close friend, remembers, “She was the happiest baby that I have ever met. And she’d scream-laugh. So loud. I don’t think I ever saw her cry.” Kara agrees, "She was doing so great. She smiled all the time. She slept great. She ate great, by that point. We had the perfect kid.” By this Leighton developed one of her most enduring nicknames, Sunshine. She was radiant.
One night everything shifted when Kara and Ben put 15-month-old Leighton to bed. Usually a deep sleeper, Leighton bawled all night. The change in behavior alarmed the couple, who took Leighton to the doctor the next day. At first doctors suspected that it was allergies or a sleep-stage regression. Kara and Ben bought air filters and threw away Leighton’s stuffed animals, yet their baby's piercing screams persisted. Leighton slept so infrequently she developed bags under her eyes. "We went back to our pediatrician four or five times. It was not stopping. From that night on, crying and screaming all day, all night,” says Kara. In this state, Leighton grew extremely sleep deprived. Ben adds, "There was not one single night where she actually slept. At this point she was clearly regressing, but we were still under the impression that it was related to the lack of sleep."
Leighton began staring into space and losing her balance. “She was falling all the time. She would pull herself up on something and let go,” Kara remembers. "She was hitting her head and constantly had bruises everywhere. We knew that something was going on.” Meanwhile doctors had no clear answers for the family. "When we started saying, ‘Look, now she is missing her mouth when she’s picking up Cheerios.' They said, 'So she’s actually regressing?' We were like, 'Yes, we’ve been telling you there’s something going on.’” Ben confirms that they had to point out the deterioration of Leighton’s motor skills to get attention. “The red flag for the doctors, to finally accept that we weren’t making these issues up, was the word ‘regression.’”
After an exome sequence test, they were “totally blindsided" by Leighton’s actual diagnosis. “The genetic counselor comes in. She has ten books with her,” Ben remembers, getting choked up. Kara and Ben had never heard of Batten disease. Their doctor informed them that Batten, also known as neuronal ceroid lipofuscinosis, is a terminal neurodegenerative disease and gave them the number for palliative care. "It was like getting a death sentence,” Kara’s father, Vance, later explained. By this, just after her second birthday, Leighton was given a life expectancy of mid-childhood—up to age five or six. “I don’t know how long it took for us to really grasp it,” says Kara.
Thrown into “fight or flight” chaos, in Kara’s words, they soon informed their large families. Within days, Kara’s aunts and cousins showed up wearing “Love for Leighton” shirts with a logo emblematic of Leighton’s pink glasses. Soon their friend Stefani suggested the poker run and car show. “I organized this event to let Kara and Ben know: ‘You don’t have to go through this alone,’” says Stefani. “‘Look at all these people that care about you guys.’” Likewise, other events such as charity runs, paint nights, or bowling tournaments hold the same mission. "The outpouring of support is unreal,” Kara reports. Kara’s boss held a fundraising dinner, child cousins began selling candy, and people began donating labor and goods. Eventually a bright pink bench, inscribed with “Love for Leighton” in serif letters, was dedicated at the family’s favorite park. Leighton has become a beacon to inform the broader public—both in Ohio and beyond—about the very existence of Batten disease.
As other children meet milestones and thrive, socializing with friends can be painful for Leighton’s parents. “What I wouldn’t give for one more messy highchair,” sighs Kara. “The worst days for me are when I dwell upon what I am missing—what we had that we don’t have anymore.” During a group discussion at their first Batten Disease Support & Research Association (BDSRA) conference, Kara and Ben confessed their social unease among friends with healthy children and asked for advice. Other families admitted that it’s hard for those with healthy children to understand and encouraged Kara and Ben to seek support from those with empathy. Attending two conferences has given them both community and insight. “We’re to the point where we understand what’s going on,” explains Leighton’s grandfather. “For us it’s not so much the background, it’s: Where are we going forward?”
Since Leighton’s diagnosis, her family has had to accept that a remedy won't come in time to save her. Knowing this, Kara and Ben can scarcely plan for the future. “We are in survival mode,” says Ben. “Just because we’re not beating down their doors doesn’t mean we don’t care about the research.” They nurture hope when possible. Kara eventually wants more children, although Ben worries about pending loss. “I can’t imagine my life without Leighton, and I don’t know who I am going to be when she’s gone,” he softly admits. On good days he puts such ideas out of mind, but on bad days he plans a funeral. Despite their grief, Leighton's family and community will continue to fundraise for Batten research, ensuring her legacy continues.
This year, the outpouring of affection for Leighton—and her parents—gives the poker run and car show a festive atmosphere, like a holiday. As sleek motorcycles and beautiful cars come and go, a joyous stream of friends and family visit Leighton under the beach umbrella. In two years the event has raised over $12,000 toward Leighton’s care. There is gratitude in every receipt and offer of support. Stefani explains the renewed sense of purpose that she and so many of the other volunteers experience. "Every item that we stop to pick up. Every flyer that we put out. Every stamp that we put on a piece of paper. It all matters.” This community is alive with purpose: “After Leighton’s gone, we will still spread awareness,” says her grandfather. “It’s not going to end when Leighton ends.” Even the dedicated park bench will always honor a little girl with small pink glasses and a huge impact. “When we say that she is our sunshine, it really is that,” remarks Leighton’s grandmother. "As bad as everything is, she really has been that light in our eyes. So that has been the big blessing from all of this. Leighton’s mission has become how to bring out the best in people and give them an opportunity to actually do something.”