Child Battling One of the Rarest Fatal Diseases in the World
“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.”
Kirsty and Eric Austin’s daughter is living with one of the rarest fatal diseases in the world. Emma was born a bubbly energetic healthy happy little girl, we had no problems, no signs, nothing.
“It was around the age of two and a half that I would say I really started having that Mama gut inkling that you know maybe something is a little off here. She started with a speech delay and then a little bit of motor delays like she wasn’t putting her own shoes on with ease, she wasn’t using utensils at Meal Time the way uh her cousins were or our friends were. We did some standard testing and everything came back normal. In just six months it was progressively getting worse and that Mama gut instinct in me was like something’s wrong.”
April 21st, 2021 was a turning point for the Texas family. We got up that morning, normal day, I loaded her up in the car and I remember hearing, I’ve never, I’ve never had to talk about this on camera so forgive me, uh I I was the only one in the car, I remember it so vividly and it’s a day I’ll never forget and I just remember mumbling sounds I had never ever heard before and 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, she’s thrown up all over herself. I’m panicking thinking, “Oh my goodness, you’re sick.” I didn’t know what I was looking at, I just knew something’s wrong with my little girl and she was tremoring and moving her arm up and down slowly and 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. I immediately called 911 and they’re like, “Ma’am, she’s in a seizure.” And I’m just thinking, “Excuse me, what?””
I was like, “I am not leaving this hospital until you do every single test and you just tell me across the board, I mean do genetic testing, do check her hair, do whatever you can.” We honestly left that day thinking nothing was going to come back from that. We had a zoom meeting with our neurologists and the moment we opened up the meeting you could see it, you could see it in the doctor’s eyes without saying a word that something this wasn’t going to be good news. Doctors finally discovered what was happening with Emma. The genetic testing came back for Emma and one thing was positive, Emma is missing a gene which uh is called tpp1. She goes on to tell us about cln2 Batten disease, so we’re just like our wheels are turning. Batten disease or neuronal ceroid lipofuscinosis is a fatal genetic disorder so there’s multiple variants of bat disease, Emma is specifically a cln2. The cln2 kids are generally between two and a half to four when this happens to them so they’re considered in uh neuro you know neurogen disease, they all have seizures and lose their abilities about the same just at different ages and and at different rates.
Basically the doctor just kind of started educating us on it telling us the symptoms saying, “You know these children lose their ability to talk, walk, see, swallow.” It was a daunting feeling and so I was actually the one and I just blurted it out, “Is she going to die? Are you telling me right now is my daughter going to die?” Um and she said yes, um this there are no known survivors.
When she first got diagnosed it was a very dark time. My heart just kind of froze that day and anticipatory grief, something I didn’t even know exist, 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 like living in the upside down world looking at your old life and thinking what what the heck is going on. The first couple of years of the grief and processing, um I was very angry and and very distraught. I had suicidal ideations and um like I said I just I was like just take her, if this is it like I don’t want to do this. I was lost in that for too long um and I still sometimes battle you know the mind wanting to shift into those thoughts. The doctor told us on diagnosis day, “Take the pictures, make everything make it count, count your blessings and make a lot of memories and just cherish her while she’s here.”
Each child with Batten disease has a variety of symptoms pressing autism so imagine autism starting when you’re two, that’s like more like an Asperger’s and developing into full on you know almost non-verbal autism. It kind of goes through the spectrum as she gets older. She’s got a little bit of the non-verbal, a lot of the food aversion and things like that, she’s had seizures, sometimes she’s a little more clumsy, her safety bodily awareness that’s a big one. The way this disease works is they go blind most of the time at different rates, Emma is more of a peripheral but a peripheral has kind of I I think receded.
Kirsty is Emma’s full-time caregiver. I left a career to be with Emma and to take care of her and and do all the things, wasn’t easy and I’m not paid for it and we don’t get disability, we don’t get any help from the government because it’s just a broken system. We do have to assist her in getting dressed, she is not potty trained anymore, there’s a lot of diaper changing and I have to help her with everything, anything and everything you could imagine most parents don’t have to help their six almost seven-year-old with. I have to be right there caregiving 24/7. Her ability to walk, sometimes she’s a lot more stumbly and she has potentially to get hurt so she needs to have somebody with her all the time, somebody constantly needs to be right by her side to make sure she doesn’t fall, hurt herself. Emma can’t speak up for herself, I have to be her voice.
Her parents are still adjusting to Emma’s condition. When she goes to school I cry almost every morning cuz she’s able to run into the school with the teachers on her own and I know the day I stopped taking her to that school will be because she can’t do that. We both dreamed of all of these things that most of us dream of, of taking her to soccer practice, taking her to ballet, watching her graduate, watching her get married, all the normal things, now all of that’s wiped away. There is definitely not a day I don’t think about it. I’m not strong, I can tell you that right now um I might appear strong but there are many days that I wanted to throw in the towel and give up, “This is too hard and I’m done.” There are many days I asked Jesus, “Just take her, just take her, please take her to heaven, I don’t want her to suffer, why is she suffering, just stop this.” 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.
Emma knows she’s different. “Do we know why we take this medicine? Because it helps your brain.” Now that she’s getting older you can see that she sees it, we can see that she recognizes 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 and it’s really hard to watch that awareness. When we have playdates or she’s at a playground and she’s around other children she just stands there by herself and stares and you can see it in her eyes, you could tell she’s wondering you know why can’t I do that.
The family has Emma enrolled in Brineura, an FDA approved enzyme replacement therapy. Emma goes to Children’s Hospital in Dallas and she sits in her hospital room all day long and she gets an infusion. It is putting a synthetic enzyme the TPP1 into her body since her body is missing it, a specific kit that’s designed for a child that she has in her brain and it they put a needle in there and it drips this medicine in there. It’s a very specialized treatment, it’s very expensive as well. Basically at this time the Brineura slows the progression of the disease, 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.
They have another child named Samuel who has also been tested for Batten disease. We actually decided after her diagnosis no more babies cuz it was too scary and I didn’t want to risk it. God obviously had a different plan and brought us Samuel. We genetically tested him, the test came back negative and that that was one of the best days of our life so far.
Kirsty 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 and never express it to the amount that my heart feels that you just simply following my page, just a simple follow, it gets us through our days, it definitely helps, it makes us feel supported. It’s very easy to feel lonely in this space, very easy to feel left behind, it’s a very isolating journey and you’ll see that my any family that comes into a realm of this that that word isolation we did not expect that, but it’s still a hard pill to swallow. We’re all in these trenches and someone help us, someone get us out please like pull us out and help help me, help my daughter.
Kirsty and Eric are working towards building a foundation in Emma’s honor and want to use their platform to help others battle this terrifying illness. It’s called the Beating Batten Foundation. We really do want to give back you know, we really do, even though we are struggling and we need all the help in the world I still want to give back if I can. Our story is honest, it is what we are living so I am just giving you a piece of our family. I hope we can help people, I hope people can help us so we can help others and that’s that’s our goal with this, that’s why I want Emma’s legacy to be.
