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

• Emma Austin, 7, has fatal Batten disease, which her mother Kirstie Austin tells PEOPLE is “basically childhood dementia.”
• There are no “known survivors” and no cure – but there is treatment that can slow the progression of the disease
• Emma’s treatment costs $172,000 every two weeks and now her family is fighting to raise awareness of the rare disease

Emma Austin loves Peppa Pig, Daniel Tiger — and can’t wait to become Disney Princess Sofia the First for Halloween.

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

For 7-year-old Emma, ​​anger is a symptom of Batten disease, a fatal, rare disease she was diagnosed with at age 4.

“But I have to take the book. He doesn’t want to eat or drink or take medicine or do anything because he just doesn’t want to put the book down,” says Kirstie.

Emma Austin.

Courtesy of Kirstie Austin

“Batten disease is a group of genetic conditions that cause cells to collect waste instead of getting rid of it,” explains the Cleveland Clinic. “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 decline in her motor skills, and she was showing unusual signs of anger.

“I knew this was not an outburst of anger. She started coming at us and attacking us, trying to bite us – says Kristie. “She has never done this before. This is not our Emma. What’s going on?”

“Then one morning we were driving to school, a perfectly normal day, and she had a seizure,” he adds. “It’s 100% when I knew. I said, ‘See, I’m right. Something is wrong here.’ ”

After more tests, the family learned it was Batten.

“There were just too many emotions hitting us all at once – this grief – that we froze and it numbed us. It was very shocking,” says Kristie.

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

Courtesy of Kirstie Austin

“The doctor guided us through the symptoms and informed us about what it was all about. I was the one who brought it up like, ‘Are you telling me she’s going to die? Are you telling me my daughter is going to die?’ ”

“My brain wouldn’t accept it,” Kristie tells PEOPLE, adding that her doctor told the family, “There are no known survivors.”

According to the Cleveland Clinic, “eventually, your child will become blind and unable to communicate, walk, sit independently, and interact with others.” The symptoms worsen over time and this leads to the early death of children.

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

Although there is no cure, there is a treatment, Brineura, that can slow the progression.

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

Emma Austin.

Courtesy of Kirstie Austin

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

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

According to Boston Children’s Hospital, about 14,000 children worldwide have been diagnosed with the disease. Specifically in the US, it is estimated that “2 to 4 out of every 100,000 children” have Batten disease.

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Kristie says gene therapies are being shut down because of funding — which is what happened to one promising therapy from Brazil last year. The group conducting the study blamed a fluctuating economic market for stalling it.

Because of this, Kristie started documenting Emma’s journey on their TikTok page Love.To.Emma.

“My goal, at the end of the day, is to bring more attention to her story and raise awareness to build community,” she says.

However, the family — which includes Emma’s younger brother Samuel, 16 months — experienced another problem: Kristin’s husband, Eric, lost his job. And that meant the family lost their health insurance.

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

The family is now paying out-of-pocket for health insurance to cover the cost of her treatment, which is partially covered by a GoFundMe they set up. Kirstie hopes her TikTok account can help raise awareness of the rare disease community’s very real need for research and sustainable treatments.

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

“We can see when she’s sad or frustrated or feeling left out. Even though the child is non-verbal or struggles to speak for himself or communicate, he is still there. They are still human beings and she just wants to be loved. She just wants to be seen and wants to be included. She wants to be invited to the party. She wants you to invite her to play, even if she won’t play with you.”

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

Categories: Trends
Source: HIS Education