7-Year-Old with Rare Disease — 'Basically Childhood Dementia' — Needs $172,000 Therapy Every 2 Weeks (Exclusive)

Mar. 15, 2025

Emma Austin, 7, has the fatal, progressive Batten disease.Photo:Courtesy Kirstie Austin

Courtesy Kirstie Austin

Emma Austin lovesPeppa Pig,Daniel Tiger— and can’t wait to be Disney princessSofia the Firstfor Halloween.

She also loves books — but as her mother, Kirstie Austin, tells PEOPLE, “Sometimes she gets so obsessed over a book, that if you take the book out of her hands, she will go into a volatile rage.”

For 7-year-old Emma, the rage is a symptom ofBatten disease, the fatal, rare illness with which she was diagnosed at age 4.

“But I have to take the book away. She’s not willing to eat or drink or take her medicine or do anything because she just won’t let go of the book," says Kirstie.

Emma Austin.Courtesy Kirstie Austin

“Batten disease is a group of genetic conditions that cause cells to collect waste instead of getting rid of it,” theCleveland Clinicexplains. “This leads to seizures, vision loss and problems with thinking and movement.”

For Emma, it was a seizure that led to the diagnosis. Her parents had already noticed a regression in her motor skills, and she was showing unusual signs of rage.

“I knew this wasn’t a tantrum. She started to come at us and attack us, try to bite us,” Kristie says. “She’s never done this before. This is not our Emma. What’s going on?”

“Then one morning we’re driving to school, just a normal day, and she had a seizure,” she adds. “That’s 100% when I knew. I was like, ‘See, I’m right. Something’s not right here.’ ”

After multiple tests, the family learned it wasBatten.

“There was just way too much emotion that hit us all at once — this grief — that we froze and it numbed us. It was very shocking,” Kristie says.

Kirstie and Eric Austin with their children Emma, 7, and Samuel, 16 months.Courtesy Kirstie Austin

“The doctor was walking us through the symptoms and informing us about what it. I was the one that blurted it out like, ’Are you telling me she’s gonna die? Are you telling me my daughter’s gonna die?’ “

“My brain didn’t want to accept it,” Kristie tells PEOPLE, adding that her doctor told the family, “There’sno known survivors.”

According to the Cleveland Clinic, “Eventually, your child will become blind and won’t be able to communicate, walk, sit independently and interact with others.” Symptoms get worse over time, and it leads to early death for children.

Kristie explains, “One of the big components of that disease is cognitive decline. They call it basically childhood dementia. These children are losing their brain cells.”

While there isn’t a cure, there is a treatment,Brineura, that can help slow the progression.

“We call it brain juice,” Kristie explains of the enzyme therapy, which is delivered via a shunt implanted in Emma’s head.

But finding a cure is a huge challenge, says Kristie, because Batten is so rare.

“That’s the problem with the rare disease community as a whole,” she explains. “You are not profitable. It’s not viable for [pharmaceutical companies] to make a drug or treatment for you.”

According to theBoston Children’s Hospital, approximately 14,000 children in the world have been diagnosed with the disease. Specifically in the U.S., it’s estimated that “2 to 4 out of every 100,000 children” have Batten’s.

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Kristie says that genetic therapies get shut down due to funding — which is what happened withone promising therapyout of Brazil last year. The group conducting the study blamed the changing economic market for halting it.

It’s why Kristie started documenting Emma’s journey on their TikTok page,Love.To.Emma.

“My goal, at the end of the day, is to get more eyes on her story and raise awareness to build a community,” she says.

However, the family — which includes Emma’s younger brother Samuel, 16 months — was hit with another setback: Kristie’s husband Eric lost his job. And that meant the family lost their health insurance.

Emma’s Brineura treatment costs $172,000 — every two weeks.

And, she says, “there’s so many things I want people to know about Emma. Even though Emma cannot express herself and she cannot talk and she cannot play with you in the same way that most would, she is still there.”

“We can see when she’s sad or frustrated or feeling left out. Even though a child is non-verbal or struggling to speak for themselves or communicate, they’re still very much there. They’re still a human being and she just wants to be loved. She just wants to be seen, and she wants to be included. She wants to be invited to the party. She wants you to invite her to play, even if she’s not gonna play with you.”

It’s why her TikTok account is called Love.to.Emma, “At the end of the day, I just want people to love her and to be a kind human being, to be empathetic, to have compassion and to be our community,” says Kristie.

source: people.com