Doctors discovered Emma was missing a gene, and they diagnosed her with Batten disease, also known as neuronal ceroid lipofuscinoses. This is a fatal genetic disorder, according to the Cleveland Clinic, and there is no cure.
Kirstie and Eric Austin's daughter is living with one of the rarest fatal diseases in the world, and the pair are working to spread the word about the illness in hopes of one day finding a cure.
Emma was born a happy and healthy girl, Kirstie said, but her instincts kicked in when she noticed her daughter's speech and motor delays at 2-and-a-half years old.
"I really started having that mama gut inkling that maybe something is a little off here," she tells Inside Edition Digital. "She wasn't putting her own shoes on with ease. She wasn't using utensils at mealtime the way her cousins were."
The parents did standard testing, and every time, the results were normal.
April 21, 2021 was a turning point for the Texas family as Kirstie took Emma to preschool.
"I just remember muttering, mumbling sounds I had never ever heard of before," she states. "I glance back in my rearview, and I'm like, 'Emma, are you okay?' And she's looking out the window, and she's just making these noises."
Because Emma was throwing up, Kirstie hoped she was just sick. But things quickly escalated.
"I didn't know what I was looking at. I just knew something's wrong with my little girl. She was tremoring and moving her arm up and down slowly," she said.
"I'm looking at her, I'm grabbing her face, and she's not there. She wouldn't look at me. She wouldn't make eye contact."
When EMS arrived, they revealed that Emma was having a seizure. Kirstie asked doctors to do genetic testing to see if something bigger was going on.
"We had a Zoom meeting with our neurologists, and the moment we opened up the meeting, you could see it," Kirstie said. "You could see it in the doctor's eyes without saying a word that something ... this wasn't going to be good news."
Doctors discovered Emma was missing a gene, and they diagnosed her with Batten disease, also known as neuronal ceroid lipofuscinoses. This is a fatal genetic disorder, according to the Cleveland Clinic, and there is no cure.
Doctors quickly began educating the family on what the diagnosis meant. Kids with Batten disease have seizures, and they eventually lose their ability to talk, walk, see, and swallow, doctors said. They also shared that there are no known survivors of the disease.
"It was a very dark time," Eric Austin said.
"My heart just froze that day with grief, anticipatory grief, something I didn't even know existed," Kirstie added. "We're all in these trenches. Someone help us. Someone get us out. Please pull us out and help me. Help my daughter."
"It's just nothing you can prepare for. It just happens. And one day, you wake up, and you realize your entire life has changed, and you're living in the upside-down world, looking at your old life and thinking, 'what the heck is going on?'"
The first few years after the diagnosis, the parents say they dealt with anger, grief and suicidal ideations. They are now working toward shifting their thoughts and cherishing every moment with their daughter.
Batten disease has a variety of complex symptoms. According to Emma's parents, she has autism, is nonverbal, has food aversions, has limited bodily awareness, and is slowly losing her vision. She also has seizures regularly.
She also is no longer potty trained, needs help getting dressed, and needs to be monitored at all times.
Because of Emma's condition, Kirstie left her career to be Emma's full-time caregiver.
"We both dreamed of all these things: taking her to soccer practice, taking her to ballet, watching her graduate, watching her get married, all the normal things. Now all of that swiped away," Kirstie said.
"We're just so grateful for what we do have with her. We're just trying to enjoy what we have now. We have plenty of time to mourn when she's gone, but it is hard. My child is dying slowly in front of my eyes, and I can't do anything about it. That is the most hopeless, helpless feeling you can carry as a parent."
Eric says that Emma, now 6 years old, knows she's different.
"She's aware," he said. "Now that she's getting older, we can see that she recognized that she's different and that all her friends and her cousins have moved on beyond her. They're doing things that she can't do, and she knows she can't do them, and it's really hard to watch that.
"She just stands there by herself and stares, and you can see it in her eyes. You could tell she's wondering, 'Why can't I do that?'"
The family has Emma enrolled in an FDA-approved enzyme replacement therapy. They drive every other week to Children's Hospital in Dallas, and she gets an infusion by a needle in a shunt in her brain.
"It is a synthetic gene putting a synthetic enzyme, the TPP-1, into her body since her body is missing it," Eric said."
The treatment is time-consuming and expensive, but they have seen some progress since starting it.
"The Brineura slows the progression of the disease," Kirstie states. "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."
Kirstie shares Emma's journey on social media, for support, to raise money, and to work towards a cure.
"I cannot put it in enough words the amount that my heart feels when you just simply following my page," Kirstie said. "Just a simple follow gets us through our days. It makes us feel supported."
Kirstie and Eric are also working toward building a foundation called Beating Batten Foundation to help others battle the terrifying illness and to honor Emma.
"We really do want to give back," Kirstie said, "Even though we are struggling and we need all the help in the world, I still want to give back if I can. I hope we can help people. That's our goal with this. That's what I want Emma's legacy to be.
