Winamac girl battling rare disease, raising awareness

WINAMAC, Ind. -- Like most 12-year-olds, Hillary Burton loves to play outside. 

The soon-to-be sixth grader enjoys zip lining, jumping, and biking around her Winamac home. On this particular morning, she’s with her mom, Katie, and younger brother, Liam. 

“Pretty typical 12-year-old things,” said Katie Burton. 

But unlike other 12-year-olds, or other people, Hillary is battling a rare mitochondrial disease. 

“We say she’s one in seven billion because it is a gene mutation… one of the mutations that they’ve never seen, ever,” said Katie Burton. “We’ve always known Hillary was one-of-a-kind but this kind of just put it in writing for us.” 

In May, doctors diagnosed Hillary with Harel-Yoon Syndrome. According to her mom, Hillary was the eighth person in the entire world medically diagnosed with the disease. 

“When we got the call that we had an answer, it was huge,” said Katie Burton. “I was on top of the world. [I said], ‘Oh my gosh, we have an answer! We have an answer!’” 

Her family has spent the past 12 years searching on and off for a diagnosis after Hillary had cataract surgery at three months old and missed other early developmental milestones. 

“We have done so much testing with Hillary,” said Katie Burton. “We would go through different times where her dad and I would want to know so we would do more testing and then we’d go through times where, ok we just want her to be a normal child and we don’t want to put her through all this testing.” 

Doctors only discovered the disease in 2016. 

“They explained everything and I’m like, ‘Oh so we have this answer, but this isn’t the answer I wanted,’” said Katie Burton. “Because we have our daughter with a disease that there is absolutely no cure for and it’s so rare that they really can’t tell us anything about it other than it’s probably going to get worse.” 

Harel-Yoon Syndrome is caused by a mutation of a person’s ATAD3A gene. 

It’s characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. However, symptoms do vary depending on the patient. 

“I have seizures,” said Hillary Burton. “School is challenging. I can’t walk as far as my friends and stuff.” 

Hillary spends a good chunk of her time at doctors appointments and treats her symptoms with prescriptions and physical therapy. 

But, the spunky preteen wants to find a cure. 

“It will be lit,” said Hillary Burton. 

Her family is hosting a 3K color run and walk at Winamac Town Park on Saturday, July 27. All of the money raised at the event will be donated to the Mitochondrial Disease Foundation. Katie Burton estimates they’ve raised close to $2,000 so far. 

“My hope is that we can get research and that’s the whole point of this run is to give money to research,” said Katie Burton. “We want her to have the best life possible and it’s terrifying to have a child with a disease with no cure and very little information.” 

“Hopefully it just shows how much the community cares for her and then with the research, with the funds, whether we make this an annual thing or it’s a one-time thing, every little bit helps,” said Chad Burton. 

“I hope that other families can see us, if they have a child, and just know that they’re not alone,” said Katie Burton. 

Hillary says the support can go a long way and help other kids realize their one in seven billion sickness shouldn’t stop them from zipping, jumping, or cycling like other children their age. 

“I think it will give them hope,” said Hillary Burton. “Just keep trying.”

To learn more about the 3K and follow Hillary's journey, click here.