The condition is so rare that Halle is the only patient in the worldwide Human Gene Mutation Database with her particular DNA change.

LINKEDINCOMMENTMORE

For most of her short life, Halle Ching suffered from a condition so rare that doctors were unable to identify it.

It left the Greenville child unable to speak or walk and even eat solid food, requiring round-the-clock care and constant medical attention.

Halle’s parents, Cathy Stevens and Erik Ching, were haunted by what could be afflicting their only daughter, now 8.

But eventually, they gave up wondering and concentrated on her care, and on their other two children.

Finding an answer

Recently, though, researchers were able to pinpoint the gene mutation that caused Halle's malady.

And while her parents now have an answer, it hasn’t made a difference to their lives.

“At some point, you start to think they may never know what she has. But then it stopped mattering as much,” Stevens said.

“You start to embrace exactly who she is. And how much you come to care for them as they are," she told The Greenville News. "We just love and adore her so much.”

Fine at first

Stevens, a program coordinator at Furman University’s Riley Institute, and Ching, a history professor at the school, were enjoying a normal pregnancy in 2010 when Halle arrived unexpectedly five weeks early.

Except for her low birth weight and a fever, she seemed fine at first.

But at her nine-week check, the pediatrician noticed that Halle wasn’t making eye contact or holding her head up. She was also suffering body stiffness that signaled seizures.

Worried, she sent Halle to a neurologist, who ordered an electroencephalogram, or EEG, to look at her brain function.

'A pretty awful time'

“They called us the day of the EEG and said things like, ‘Halle’s going to need support her entire life,’ and ‘She might not walk or talk, and might not even be able to sit up,’ ” Stevens said.

“We were thrust into this realm of the unknown. Nobody knew what she had,” she added. “It was a pretty awful time.”

Over the following months, Halle endured some 30 EEGs in addition to spinal taps, MRIs and countless genetic tests.

Finally, she was loosely diagnosed as having a mitochondrial disease, her mother said.

'Almost like a newborn'

Mitochondria are substances in cells that turn nutrients into energy and are necessary for life and growth, according to the Boston-based nonprofit group, MitoAction, which works to improve quality of life for patients with mitochondrial disorders.

Mitochondrial diseases can cause severe physical, developmental and cognitive disabilities.

Halle has serious developmental delays as well as issues with vision, hearing, speaking, walking and poor muscle tone that affect her overall ability to function, said Dr. Addie Hunnicutt, the pediatric neurologist at Greenville Health System’s Children’s Hospital who’s been caring for her since infancy.

She needs a feeding tube, she added, and her cognitive ability is limited.

“She does struggle with doing intentional movements and coordination is a problem,” she said. “She’s still almost like a newborn.”

Finally a diagnosis

With the recent discovery of a mutation in a calcium channel gene called CACNA1C, doctors were able to determine what caused Halle’s disabilities, Hunnicutt said.

The condition is so rare that Halle is the only patient in the worldwide Human Gene Mutation Database with her particular DNA change, according to Dr. Ray Louie, assistant director of the Greenwood Genetic Center’s Molecular Diagnostic Lab.

“It’s been an odyssey of diagnostic tests,” Hunnicutt said. “But the mutation was just recently described and we finally came up with an actual diagnosis.”

While it’s related to another mitochondrial disorder called Timothy Syndrome, that condition causes more cardiac abnormalities while Halle’s problems are in her brain, she said.

Scientists know that the mutation is the result of a rare mistake in Halle’s DNA when she was conceived, but don’t know why it happened, Hunnicutt said.

Ups and downs

Halle sees a variety of doctors and gets regular physical, occupational and speech therapy, Hunnicutt said, and her seizures have improved with medication.

But it’s hoped that one day scientists will develop a therapy to repair the gene and offer more improvement, she said.

Early trials are underway now to repair the mutation that causes Duchenne Muscular Dystrophy, for example, although that involves a mutation in the muscle as opposed to the brain, which would be harder to fix, she said. But that’s years away.

In the mean time, Stevens and her husband have had to learn how to care for a medically complex child and cope with the ups and downs.

'A nice honor'

“Looking back, I think I was terribly naive. I thought it was just a hurdle and we’d be fine,” Stevens said. “But it’s a massive life change. And it’s something you have to come to grips with. It’s really emotional to talk about sometimes.

"We had envisioned something very different.”

But Halle’s family, including brothers Anders, 10, and Evan, 4, were thrilled recently when they were selected as a featured family for this week’s annual Children’s Hospital Radiothon on Aug. 9 and 10.

“We spend a lot of time at the hospital,” Stevens said. “It’s such a nice honor.”

More than $3 million has been raised over the 11 years of the Radiothon to help fund services not covered in the hospital’s typical budget, like the hospital’s therapy dogs, special needs car seats and summer camp. 

Many challenges

Because Halle is so severely disabled, it’s hard to know if the blonde-haired, blue-eyed child is happy or sad, her mother said. While she cries when she’s in pain, at other times she has a pleasant look on her face, though she can’t smile because of the lack of muscle tone.

“We have learned what she likes and doesn’t like and we feel like she recognizes us,” Stevens said. “And she does communicate in some ways. She’ll kick her foot if someone is talking to her and stick her tongue out when she’s hungry.”

Along with the emotional stress of having a medically fragile child are the financial challenges, like getting a van modified to accommodate Halle's wheelchair.

“Taking care of her is crazy expensive,” Stevens said. “Medicaid for children with disabilities has been vital to us not being poor and homeless.”

Running a marathon

While Medicaid provides in-home care 21 hours a week, nearby family members also are a great help, she said.

Halle has significant challenges, Hunnicutt said, but her family does a wonderful job of making sure she has all she needs.

“At first, we were just racing to get into every therapy and every doctor. Then you start to settle into a new normal of having a medically complex child,” Stevens said.

“It’s like running a marathon. Except there’s no end to the race.”

The Children's Hospital Radiothon will be broadcast live from 6 a.m. to 7 p.m. on the seven Entercom Upstate stations: 106.3 WORD, ESPN Upstate, Classic Rock 101.1, 93.3 The Planet, Magic 98.9, B93.7 and 96.3 The Block.Those wishing to contribute to the Radiothon can text “GHS” to 51555 or go to www.ghschildrens.org/radiothon.

LINKEDINCOMMENTMORE
Read or Share this story: https://www.greenvilleonline.com/story/news/2018/08/09/greenville-girl-only-patient-record-rare-genetic-mutation/936338002/