'Gives me my life back': An Austin woman's journey to diagnosing a mystery illness

When Koral Charles was 17 and living in Dallas, she started getting eye twitches on the right side of her face.

"It was very painful," she said. It would feel like her face was being sucked in, and her right eye and that side of her face would hurt.

She thought it was just the stress of finishing up high school, but her mom took her to different doctors to try to figure out what was going on. She was told it was just allergies.

She started taking allergy medication, "but it was no relief," Charles said. "It was more irritating."

At one point after seeing multiple neurologists, they thought she might have multiple sclerosis, but bloodwork and an MRI came back normal.

The twitches Charles was experiencing were epilepsy — but it would take five years and multiple doctors to finally get that diagnosis and be treated for it in Austin.

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Getting to diagnosis of mystery illness

Charles learned to live with the twitches. If she had a big presentation to do for school, she would poke her face or chill her face to bring on the twitches before her presentation so that an attack wouldn't happen during the presentation.

Her epilepsy progressed, and she was having about 10 episodes of twitching a day. She did have one grand mal seizure her senior year of college at Stephen F. Austin University. That's the type of seizure people typically visualize when they think of epilepsy.

She woke up confused and feeling achy.

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Then, shortly after Charles moved to Austin in 2016, she saw another neurologist, who told her he couldn't help her because she needed a seizure specialist.

This was the first time her twitches had been identified as epileptic seizures. Epilepsy happens when the brain has abnormal nerve cell activity. It can be caused by a trauma such as a birth injury or brain injury. It also can be caused by an infection or have a genetic component.

In the United States, 3.4 million people have epilepsy, and 1 in 26 people will develop epilepsy at some point in their lives, according to the Epilepsy Foundation. About 150,000 new cases are diagnosed each year. The coronavirus pandemic has not increased that, and 71% of people with epilepsy noted that their seizures had not changed.

Dr. Sami Aboumatar of the Austin Epilepsy Care Center is Charles' doctor, and he said her descriptions of the attacks did fit with the kind of epilepsy she has, which is focal epilepsy — happening in only one area of the brain.

Many people assume that only what they see on TV or in movies is epilepsy. It's typically portrayed as someone falling to the ground and having convulsions in a grand mal seizure.

Epilepsy, though, can be twitches like the ones Charles experienced. It also can be numbness in certain areas, or mental changes such as confusion or some feeling like a person has lost time or is experiencing déjà vu. It can be smelling a recurring odor that no one else smells, such as plastic burning or the smell of methane gas, Aboumatar said. It can also be staring into space.

"If you're having repeated spells," you should see a neurologist, who can then refer you to an epileptologist, a neurologist who specializes in epilepsy, Aboumatar said.

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The peak times for epilepsy to begin are childhood and 65 or older, but it can happen in the teenage years, like Charles experienced, or in middle age.

Sometimes epilepsy is tied to a family history, but often there is no genetic connection.

In Charles' case, hers does have some correlation with family history. Charles has multiple family members with epilepsy, and she has since done genetic testing to determine she does carry the gene for that type of epilepsy.

Another thing that can put people at risk for developing epilepsy as an adult is having a febrile seizure as a child. That's a seizure that happens with a high fever. It makes you three times more likely to develop epilepsy, Aboumatar said.

Austin woman begins treating epilepsy

Charles was put on several different medications to make sure she didn't have another grand mal seizure. She was enrolled in a phase three clinical trial for cenobamate, which is now known as XCOPRI CV. It's specifically for her type of epilepsy that was causing the twitching, and is only for adults.

Aboumatar said his clinic enrolled 35 patients in the trial before the drug became FDA approved in November 2019.

"We were impressed with this medication starting from early in the trial," he said.

For Charles, her seizures were cut in half, then much less, to maybe having one or two a month. The intensity of the seizures has also lessened.

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Charles, 29, is a registered behavior technician working with children with autism, and she is also going to the University of Texas to become a board-certified behavior analyst for autism. She knows that stress as well as having alcohol still can trigger a seizure. When she does have a seizure, it's typically while she's asleep or just waking up. She has also learned to relax through the seizures, which makes an episode pass quicker.

"These medications allowed me to drive," she said. Before that, her husband had to drive her to work because of the fear that she would have another seizure while driving. "It gives me my life back," she said.

She no longer has to explain to strangers what is happening to her, which gives her more confidence.

Aboumatar said he aims for zero seizures with minimal impact on a patient's life, but it's a delicate balance of not being overmedicated.

If medication isn't working, then based on where in the brain the epilepsy is, doctors might try implanting a nerve-stimulating device or removing the affected part of the brain.

Currently, there are clinical trials being done in the United States using laser ablation therapy, ultrasound, CBD and at least six of what could become prescription medications for epilepsy. CBD — which is shorthand for cannabidiol, a cannabis-derived substance — was first approved for use in people with epilepsy in 2018.

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Controlling seizures is important, not just for quality of life, but having recurrent seizures can affect short-term memory, as well as feed anxiety about when a seizure might happen, he said.

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This article originally appeared on Austin American-Statesman: Austin woman struck with mystery illness shares journey to diagnosis