How One Family is Fighting for Maya

#FightingforMaya: One Family’s Battle to Save Their Daughter

When Beau and Suzette James noticed worrisome developmental changes in their daughter Maya, they immediately sought answers. Five years later, the family has successfully rallied a powerful, determined community around saving her life.

by Karli Petrovic

Maya James is a typical 13-year-old girl. She likes Colbie Caillat and sometimes thinks her three younger brothers are annoying. Her infectious smile lights up a room. She’s observant and funny and almost endlessly positive. Maya is a force. She also happens to have a rare disease called Atypical TPP1 Deficiency.

“Up until about the time Maya was nine years old, she was developing and growing like any other child,” explains Maya’s father, Beau James. “She loved to jump rope; she loved to go swimming, and she loved to run.”

Atypical TPP1 Deficiency is a subset of Neuronal Ceroid Lipofuscinosis 2 (CLN2), a disease that is a form of Batten disease. It’s extremely rare—even among rare diseases. When Maya was first diagnosed, only seven other cases were reported worldwide. With increased awareness of the disease, that number has nearly tripled, but it’s a far cry from the high end of the Food and Drug Administration’s definition of a rare disease: one that affects fewer than 200,000 Americans.

With little available information, an abundance of heartbreaking statistics and no FDA-approved treatment options, the James family began its battle somewhat blind, fighting an invisible enemy that made it nearly impossible for their daughter to sit up in bed, walk or stand without assistance.

This family of warriors persevered. And somehow, against the odds, Beau and Suzette James managed to do more than find the best possible care for Maya: They connected strangers from across the country, rallying a powerful community around raising awareness and saving Maya’s life.

“Beau and Suzette hit the ground running helping other families,” says Margie Frazier, PhD, LISW-S and Executive Director of the Batten Disease Support and Research Association (BDSRA). She explains that the Jameses brought new volunteers into the fold and inspired their friends in other states to help with outreach and fundraising efforts.

Before they helped build a nation-wide support network, however, the Jameses, like most families, had never heard of Batten disease. Everything seemed relatively normal. Their kids were healthy. Maya had a stutter when she was little, but she worked to lose it. She had some fine motor issues that were managed with the help of an occupational therapist.

What eventually unfolded into an ordeal defined by a dizzying number of doctors’ visits, blood and saliva tests, and biweekly cross-country plane rides, began innocently as well. Beau noticed that Maya would pull when he held her hand as they walked to school. She seemed a bit off-balance. In 2013, Beau and Suzette made an appointment with a neurologist.

“All the way through those initial conversations and doctors’ visits, we really didn’t think it was going to be anything amazingly serious,” Beau says, explaining that this all changed when the neurologist called to give him and his wife additional information and direct feedback. “It got pretty serious very quickly.”

For those who have seen smiling photos of Maya on Beau’s blog or in the posts that accompany the #FightingforMaya movement the Jameses have created to raise awareness and fundraising support for the Texas Children’s’ Hospital’s Atypical TPP1 Deficiency research project, the disease may not seem serious. Beau says many people read the description of CLN2 and don’t believe Maya has it.

Regardless, the photos aren’t staged. Maya truly is a happy kid, and her parents have worked very hard to foster an atmosphere of positivity.

“We wanted to preserve her childhood the best we could, given the situation we were in,” Suzette explains. “We made a conscious choice not to tell her what she has, and she still doesn’t really know. It didn’t make sense to tell her. She couldn’t do anything about it.”

The Jameses even tried to make the frequent doctors’ visits into a game, joking about having to give her birthday date to yet another person. In these small moments, Beau and Suzette could shield Maya from the severity of her disease.

Maya James, 2009  Photograph by  Scott Friedman

Maya James, 2009
Photograph by Scott Friedman

Batten disease has 14 different forms (CLN1-CLN14), but the symptoms for each subset are indiscriminately heartbreaking. The disease is the most common cause of childhood dementia. All the children will lose their vision and have seizures at some point. Most won’t live to adulthood, many will die before reaching their teens.

The classic form of CLN2 can cause unprovoked seizures in children as young as three, and the child will likely die between the ages of 10 and 12. For those, like Maya, who suffer from the atypical form of CLN2, the disease has a delayed onset.

The difference is that kids like Maya have some of a necessary enzyme. Not enough to be totally healthy, but more than children with the classic form of the disease. Beau likes to use a metaphor to help people understand how the disease impacts the body.

“If you imagine that the cells in your body are a small city, where the nucleus is downtown and the mitochondria are the power plants, the lysosomes are the sanitation department or the recycling center,” he explains. “As the city generates garbage, the lysosomes recycle the garbage.”

When someone has a lysosome deficiency disorder like CLN2, the garbage begins to pile up. Healthy bodies pick up the garbage every week, Beau says. Maya’s gets picked up every two or three weeks.

“Over time,” he continues, “the sanitation department falls behind and that city—or in this case, the cell—gets sick and eventually dies.”

Although the atypical form of the disease is less aggressive and often buys the families more time, it’s no less serious. It is, however, a lot harder to convince people—everyone from medical professionals to those who have seen her smiling photos—that Maya has a super rare childhood disease.

“I think none of us understand the isolation that would come with something like this, not even me,” Frazier says. “I am not a parent of a child with Batten disease, but I do understand the importance of connection. Having people who understand your day-to-day existence—the frustrations, the joys, the challenges, the fears, all at once—which is a constant and hourly mixed bag, is very key.”

She adds that the BDSRA works to fill this need by providing platforms for families to connect in meaningful ways, whatever form that may be. It was the BDSRA that helped the Jameses get Maya into a compassionate care study of a drug that could help.

Brineura from BioMarin recently became the first FDA-approved treatment for CLN2, but when Maya first started treatments, it was a long shot that required a serious time commitment. The Jameses needed to shuffle Maya from their San Diego home to the Nationwide Children’s Hospital in Columbus every two weeks for a hours-long treatments.

“It’s only now that we realize how stressful that was,” Beau says. “We had no other options. We absolutely had to do this for Maya.”

Thankfully, help was on the way. One of Beau and Suzette’s friends in Portland, OR, had colleagues that worked at Nationwide Insurance in Columbus. When the people at Nationwide heard Maya’s story, they rushed to offer support.

“They really opened their arms to us,” Beau says, explaining that one family offered the keys to their home while they spent the winter in Florida. People gave gift cards and got Maya backstage passes to a Colbie Caillat concert where Maya met and took pictures with her idol.

“The compassion was just unreal,” Beau continues. And when the Jameses mentioned they were just one of many families coming to Columbus for treatments, the community rallied around those families, too.

“Now whenever a new family comes, there’s a welcoming committee to soften that blow and make sure that family receives everything they need during their time in Columbus,” he says. “It’s absolutely phenomenal.”

While Maya will need ongoing Brineura infusions, a new treatment center in Orange County, CA, has eliminated the need for cross-country treks. The larger support network also continues to grow, introducing new participants to the  #FightingforMaya initiative and other fundraising efforts like Everything Matters, an upcoming charity event in Portland to benefit the BDSRA. After all, there’s more to be done.

“We have a lot of work to do,” Frazier says. “We feel completely joyful that we have one FDA-approved treatment, but we aren’t done.

“As families have lost their children along the way, they’ve continued to raise money to grieve with other families and to rejoice with other families,” she continues. “It has been a very powerful force.”