Rare Illness, Relentless Courage: How One Child Fights Against the Odds

Emma was diagnosed with Batten disease, also referred to as neuronal ceroid lipofuscinoses, when doctors found that she was lacking a gene. The Cleveland Clinic says there is no cure for this deadly hereditary condition. 
The daughter of Kirstie and Eric Austin has one of the most deadly illnesses in the world, and the couple is trying to raise awareness of it in the hopes that a cure may eventually be found. 

Kirstie claimed that although Emma was born content and healthy, her intuition took over when she became aware of her daughter's speech and motor deficits at the age of two and a half. 

She says, "I really started having that mama gut inkling that maybe something is a little off here," exclusively to Inside Edition Digital. She was having trouble putting on her own shoes. Unlike her cousins, she did not use utensils during mealtime.

Standard tests were administered to the parents, and each time the results were normal.

When Kirstie took Emma to preschool on April 21, 2021, it marked a sea change for the Texas family. 

"I just remember muttering, mumbling sounds I had never ever heard of before," she says. "I ask myself, 'Emma, are you okay?' as I look in my rearview mirror. Additionally, she is making similar noises while gazing out the window.

Kirstie hoped Emma was simply ill because she was throwing up. However, things swiftly got out of hand. 

"I had no idea what I was seeing. I simply knew that my little kid was having problems. She said, trembling and slowly raising and lowering her arm. 

"I'm grasping her face and staring at her, but she's not there. She refused to give me a look. She refused to look at me.

Emma was experiencing a seizure, according to EMS when they arrived. To find out if something more serious was happening, Kirstie asked doctors to perform DNA testing. 

"We had a Zoom meeting with our neurologists, and the moment we opened up the meeting, you could see it," Kirstie explained. "You could see it in the doctor's eyes without saying a word that something ... this wasn't going to be good news."

Emma was diagnosed with Batten disease, also referred to as neuronal ceroid lipofuscinoses, when doctors found that she was lacking a gene. The Cleveland Clinic says there is no cure for this deadly hereditary condition. 
Physicians promptly started explaining the diagnosis to the family. According to experts, children with Batten disease experience convulsions and eventually lose their abilities to walk, talk, see, and swallow. They also disclosed that the sickness has no known survivors. 

According to Eric Austin, "It was a very dark time,"

"My heart just froze that day with grief, anticipatory grief, something I didn't even know existed," Kirstie said. Everybody is in these trenches. Someone somebody assist us. Get us out, please. Pull us out and assist me, please. Assist my daughter.

"You simply cannot prepare for it. It simply occurs. When you wake up one day, you discover that everything in your life has changed and that you are living in a reverse reality. You look back at your previous life and ask yourself, "What the hell is going on?"

According to the parents, they struggled with sadness, rage, and suicidal thoughts over the first few years following the diagnosis. They are currently making an effort to change their perspective and value each time spent with their kid. 

The symptoms of Batten disease are complex and varied. Emma has autism, food aversions, limited physiological awareness, nonverbal communication, and gradual visual loss, according to her parents. She also frequently suffers seizures.

She also requires constant supervision, assistance getting dressed, and is no longer potty trained. 

Kirstie quit her job to care for Emma full-time due to her health.

"We both had dreams of taking her to ballet class, soccer practice, graduation, marriage, and all the typical things. All of that was stolen away now," Kirstie remarked.

The symptoms of Batten disease are complex and varied. Emma has autism, food aversions, limited physiological awareness, nonverbal communication, and gradual visual loss, according to her parents. She also frequently suffers seizures.

She also requires constant supervision, assistance getting dressed, and is no longer potty trained. 

Kirstie quit her job to care for Emma full-time due to her health.

"We both had dreams of taking her to ballet class, soccer practice, graduation, marriage, and all the typical things. All of that was stolen away now," Kirstie remarked.

We simply feel incredibly thankful for what we do have with her. All we're doing is attempting to appreciate what we now have. It is difficult, but we have plenty of time to grieve after she is gone. In front of me, my child is slowly dying, and there is nothing I can do about it. As a parent, that is the most powerless and hopeless feeling you can have.

According to Eric, Emma, who is now six years old, is aware of her differences. 

His words, "She's aware," "As she ages, it's evident that she has come to terms with the fact that she is unique and that all of her friends and cousins have moved on. They're performing tasks that she knows she is incapable of performing, and it's rather difficult to watch that.

"You can see it in her eyes as she simply stands there by herself and stares. 'Why can't I do that?' she was clearly asking herself.

Emma's family has enrolled her in an enzyme replacement therapy that has received FDA approval. Every other week, they take a car to Children's Hospital in Dallas, when a needle is inserted into a shunt in her brain to administer an infusion.  

"It is a synthetic gene putting a synthetic enzyme, the TPP-1, into her body since her body is missing it," Eric explained." 

Although the treatment is costly and time-consuming, they have noticed some improvement since beginning it. 

"The Brineura slows the progression of the disease," notes Kirstie. "It has helped stabilize Emma to a place now where she's almost seven, and she's still walking, and she's still running, and she can still see, and she still eats and swallows, and does all these things that most people don't think about and take for granted."

In an effort to garner support, collect funds, and find a solution, Kirstie posts about Emma's ordeal on social media. 

"I cannot put it in enough words the amount that my heart feels when you just simply following my page," Kirstie said. "All it takes to get through the day is a simple follow. It gives us a sense of support.

In addition, Kirstie and Eric are attempting to establish the Beating Batten Foundation in Emma's honor and to assist others in overcoming the horrifying condition.  

"Even though we are struggling and need all the help in the world, we really do want to give back," Kirstie stated. "I still want to give back if I can." I hope we are able to assist others. That's what this is for. That's my goal for Emma's legacy.