Ava's story: How a mother's intuition led to game-changing care

A mother's intuition can be a powerful force. For Ava, it led to a life-changing diagnosis in infancy that most children don't get until they're at least six years old.

In May 2023, Alexis noticed her 11-week-old daughter, Ava, doing some strange, darting eye motions. As an adult emergency room (ER) doctor, Alexis knew these movements weren't anything like the subtle seizures she'd seen before. It looked like Ava was chasing flies with her eyes.

She took a video of Ava's eye movements and texted it to a few of her co-workers to get their opinion. Two replies came back saying: I think that's normal.

Alexis wanted to feel reassured. She really did. She was a mother of four children. She knew that babies do strange things sometimes. But she couldn't shake a feeling deep in her gut: This is not normal.

And then, a third reply appeared. It said: That's a little odd. I think you should get it checked out. That was all the assurance she needed to take Ava to the closest emergency room.

A need for an explanation

The ER doctor wasn't too concerned. “Babies do weird things,” he told her. Alexis' maternal intuition made her push back. “I think it's abnormal,” she told the doctor.

The doctor agreed to keep Ava overnight to get some EEG readings of her brain's electrical activity. The neurologist who read the EEG said it was normal and reiterated: "Babies do weird things."

Alexis felt slightly relieved, but still worried that something was wrong.

Two days later, Ava's eyes started darting from side to side again, for a full two minutes. Alexis needed more opinions, so she posted a video to a physician mom group on Facebook.

At 11-week-old, Ava's eyes started darting from side to side. The eye movements are known as aberrant gaze saccades, which are often the first signs of GLUT1 deficiency syndrome.

A few hours later, she found a collection of comments from worried physician moms:

Doesn't seem normal.
Get it evaluated.
It's very rhythmic.

Alexis took Ava to the pediatrician, who consulted with a neurologist that recommended following up in a few weeks with an MRI.

That night in the bath, Ava stopped breathing, her lips turned purple and then she started crying. Alarmed, Alexis contacted her pediatrician: “Something's not right. I'm taking Ava to the hospital. Where should I go?” Her pediatrician responded, "Go to the emergency room at Children's Health℠. They have 24-hour EEG capability, and you'll get another opinion."

Affirmation of a mom's intuition

Ava was admitted to Children's Medical Center Dallas to rule out meningitis, a serious and potentially life-threatening infection – and do another EEG.

That night, Ava had four other episodes where she stopped breathing. Roha Khalid, M.D., Pediatric Neurologist at Children's Health and Associate Professor at UT Southwestern, confirmed that Ava was having seizures. So Ava's care team started Ava on an anti-seizure medication, which seemed to help.

Meanwhile, Alexis was still searching for answers and had begun to research a rare genetic condition called GLUT1 deficiency syndrome (called GLUT1 for short) that can cause epilepsy. People with this condition lack the protein needed to transport glucose into the brain to be used for energy. The team at Children's Health was also concerned about GLUT1 because her darting eye movements (called aberrant gaze saccades) are a classic symptom. Together, they decided to do a genetic test for GLUT1, which is the only way to confirm a diagnosis.

"Genetic testing can be such a game changer for kids like Ava because it can answer questions we can't answer in any other way. We were all very anxious for the results," Dr. Khalid said.

Finally, after 22 very long days, the results from Ava's genetic test confirmed that she had GLUT1.

A miracle treatment for GLUT1

From her research, Alexis already knew that the best treatment for GLUT1 is a ketogenic (or keto) diet, a high-fat, low-carb diet. Being on a keto diet would mean Ava's brain could use fats for energy instead of carbs.

Ava's care team would need to start the keto diet under medical supervision – and they were able to admit her to the hospital the next day.

The team worked to slowly, safely move 3-month-old Ava into ketosis, the medical term for when the body transitions to burning fats for energy. They wanted Alexis to continue breastfeeding, but also needed to introduce a special keto-friendly formula. When tests confirmed Ava was in ketosis, the results were immediate.

"A few days after starting the keto diet, Ava was sitting up more, cooing more and being more responsive. It was a miracle," said Alexis.

Learning to live keto

In the hospital, Alexis met with a team of dietitians who answered all of her questions about how keto works. They also gave her a book to learn how to start the keto diet at home – and a list of recommended books with good recipes and tips.

Now, each week, Alexis plans Ava's meals, preparing delicious low-carb, high-fat meals like vegetable purees with avocado oil, blueberry muffins with coconut oil and heavy cream, and chicken nuggets with eggs, mayo and nuts. It's taken Alexis time to figure out what recipes are worth her time and connect with other GLUT1 moms to share recipes. It's also taken time to learn how to calculate the correct ratio of fats to include.

"I'm a physician, but I'd never really weighed food before. There's a lot of math. But the dietitians showed me how to do it and gave me a lot of support getting started. Now, it's second nature and the results are definitely worth it,” Alexis said. “Ava hasn't had a single seizure since starting on a keto diet. And she's no longer taking anti-seizure medications."

Grateful for an early diagnosis

Looking back, Alexis is glad she listened to her gut in the face of so much anxiety, self-doubt and several experts telling her Ava was fine. And she was grateful to find a team of experts who could provide a fast diagnosis and hold her hand as she learned the ins and outs of managing a ketogenic diet.

"If I didn't take her to Children's Health, I don't know where we would be," Alexis said.

Most kids with GLUT1 deficiency don't find out they have it until they're older – after they're showing clear signs of developmental delays, such as speech issues, cognitive impairment and motor difficulties. But Ava's diagnosis at 3 months old means getting ahead of potential developmental issues.

With the help of weekly physical therapy and speech therapy, Ava is 18-months old and walking, working on her balance and saying "Huh" (her working version of "Hi") to anyone who will listen.

Her parents are also sleeping better at night.

"The thing about seizures is you never know when they're going to happen. So finding out what was causing Ava's frequent seizures – and starting treatment that stopped them – has given us so much peace of mind," Alexis said.

Dr. Khalid attributes much of the success of Ava's treatment and development to her mom's love and dedication. “Alexis is such a wonderful person to work with and has been such an amazing advocate for Ava. And Ava is just the cutest, happiest kid – who loves to eat," she said.

Now that Ava's seizures have stopped and Alexis has got the hang of the keto diet, she's returned to work as an ER doctor. But her experience with Ava has changed the way she practices medicine.

"If a mom is telling me something is not right, I give that pause. Because I know – deep in my heart – that the mom knows their child way better than I do," Alexis said.

Is keto right for your child with epilepsy?

For kids with GLUT1 deficiency syndrome, the keto diet is the most effective treatment for stopping seizures, a common symptom of GLUT1. The keto diet can also be used as treatment for kids with epilepsy to help reduce seizures by 50-75% and improve cognition and development. Learn more about the ketogenic diet for epilepsy and consult with your child's doctor to see if it might be right for them.

Find expert epilepsy care and resources

Designated as a Level 4 Epilepsy Center by the National Association of Epilepsy Centers, Children's Medical Center Dallas provides the highest level of treatment for the most complex cases of pediatric epilepsy. We also offer additional advanced epilepsy treatment options at our Level 3 Epilepsy Center in Plano. Learn more about our program and services and request an appointment.

Explore resources to help you support your child with epilepsy and tune in to the Children's Health Checkup podcast for a three-part series focused on understanding and managing epilepsy in children (available in English and Spanish).