Batten disease patients highlight CHOC’s growing reputation as a destination for kids with rare conditions

In the yard of his home just outside Boise, Idaho, Ely Bowman loves to toss balls and play with Bobo, the family Goldendoodle. He also loves the trampoline.

“If you were to come over and just watch him,” says his mother, Bekah, “you would not believe me if I told you he was blind.”

Ely, who turns 8 in July, lost his sight when he was 6 due to the rare neurological disorder CLN2 disease, one of the most common forms of a group of inherited disorders known as Batten disease.

Kids with CLN2 disease are missing an enzyme that chews up waste products in the brain. This lack of a cellular “Pac Man” to gobble up the bad stuff eventually leads to the destruction of neurons, resulting in blindness, loss of ability to speak or move, dementia, and death – usually by the teens.

There is no cure for CLN2 disease. But thanks to genetic scientists, neurosurgeons and nurses at CHOC, there is hope for delaying progression of the disease – one that claimed the life of Ely’s older brother, Titus, at age 6 in September 2016 before a cutting-edge therapy became available at CHOC six months later.

The therapy, Brineura, is a medication that treats the brain via a port under the scalp with a synthetic form of the missing enzyme. CLN2 patients come to CHOC every two weeks for the four-hour infusion to keep the drug working effectively.

Ely receiving an infusion at CHOC
Ely receiving an infusion at CHOC

Largest infusion center in country

CHOC since has grown into the largest Brineura infusion center in the country and the second largest in the world. Kids from all over the United States have come to CHOC for Brineura treatment since it first was offered in March 2017 following a three-year effort by Dr. Raymond Wang to get the green light for CHOC to become the second infusion site in the U.S.

“When a family has a child with a rare disease,” Dr. Wang says, “and if the South Pole were the only place that was offering treatment, the family would find a way to get there. Those are the lengths that a rare disease family would go to help their child.”

CHOC now has treated 13 Brineura patients, the latest being 3-year-old Max Burnham, whose parents having been making the trek to Orange every two weeks from their home in the Bay Area since Max’s first infusion on Feb. 8, 2021.

Max asleep with Choco teddy bear
Three-year-old Max and his family travel to CHOC from Northern California every two weeks for treatment for Batten Disease.

CHOC’s Brineura program underscores its growing reputation as a destination for kids with rare diseases.

Recently, CHOC specialists started treating a 3-month-old with Hurler syndrome, another serious and neurodegenerative condition. The family drove across the country because CHOC is the only site in the world that has a clinical trial of gene therapy for their son’s condition.

Because the family will be staying at CHOC for at least through April 2021, a team of three study coordinators — Nina Movsesyan, Harriet Chang, and Ingrid Channa – helped the family get settled in at an Airbnb in Irvine.

“Our case managers and financial coordinators were crucial in getting the infant’s weekly enzyme therapy approved within a week’s time, and our excellent nurse practitioner, Rebecca Sponberg, asked purchasing to procure the enzyme drug for the baby on two days’ notice,” notes Dr. Wang, a metabolic specialist and director of CHOC’s Campbell Foundation of Caring Multidisciplinary Lysosomal Storage Disorder Program.

Dr. Wang says CHOC became an active site for the RGX-111 gene therapy after treating a child from a family in Indio in 2019. Another 14-year-old girl from West Virginia has received the same treatment.

“All of these cases wouldn’t be possible without the awesome teamwork from team members, who all are dedicated to the mission of CHOC,” says Dr. Wang. “I think it’s pretty remarkable that people from all over the country are coming here for clinical care and research studies because of our expertise and what we offer them: hope for their beloved children.”

Dr. Raymond Wangs gives patient Ely a high-five
Dr. Raymond Wangs gives patient Ely a high-five

A true team effort

For the Brineura infusions, which are administered by pediatric neurosurgeon Dr. Joffre Olaya, CHOC metabolic specialists work closely with providers in CHOC’s Neuroscience Institute.

Susan See is nurse manager of CHOC Hospital’s neuroscience unit, where the patients receive their infusion and stay for care afterward.

“We quickly put together a comprehensive program that really treats the patient and family not just medically, but also from an emotional support standpoint,” she says.

Batten disease especially is terribly cruel because its symptoms typically hit just as parents are starting to enjoy their child reaching several developmental and cognitive milestones such as walking and talking.

Untreated, the disease eventually takes all that away.

“What makes them who they are gets rapidly erased,” says Dr. Wang. “As a practitioner, it’s hard. I’m trying to imagine being in the shoes of a parent knowing this is going to happen to their child.”

For Bekah Bowman and her husband, Daniel, the diagnosis for Titus and, two months later, Ely, was like being on a high diving board and being shoved off and bellyflopping into the water.

“We had to learn what little control we have in life,” Bekah says.

The Bowmans worked closely with Dr. Wang to get the Brineura clinical trial launched at CHOC.

“When we met Dr. Wang,” Bekah says, “he told us: ‘We don’t have the answers for you right now, but I want you to know we’re going to keep fighting and we’re not going to give up.’”

Brineura families form tight bonds with their team at CHOC, which includes eight nurses who have been trained to care for them: Allison Cubacub, Genevieve Romano-Valera, Anh Nguyen, Melissa Rodriguez, Kendall Galbraith, Annsue Truong, Monica Hernandez, and Trisha Stockton.

The team at CHOC say goodbye to Ely and his family before they moved to Idaho
The team at CHOC say goodbye to Ely and his family before they moved to Idaho

Some families, including the Bowmans, have moved on from the program at CHOC when Brineura infusions became available near their hometowns. The Bowmans returned to their native Idaho outside Boise in October 2018. Leaving CHOC was difficult.

“That was one of the hardest goodbyes we had to say,” Bekah says.

All Brineura patients receive the transfusions on the same day – something unique to CHOC, Susan says.

“We learn what is unique about each patient and we become very close to them,” she adds. “It really reminds us why we said yes to nursing. What we thrive on is being able to care for families.”

Quick to action

Laura Millener, the mother of Max, CHOC’s latest Brineura patient, says she selected CHOC for Max’s condition, diagnosed in January 2021, because he needed to be treated right away. She first spoke to Dr. Wang on Jan. 11, and Max got his first infusion less than a month later.

“You could just tell how much he cares about his patients,” Laura says of Dr. Wang.

Max plays at CHOC while receiving treatment for Batten disease
Max plays at CHOC while receiving treatment for Batten disease

Says Dr. Wang, who has three children ages 10 to 18: “I count [my patients and my families] as my extended family, and I want the best for all of them.”

Laura and her husband, Matthew, a C-5 pilot in the U.S. Air Force, will be relocating to Quantico Marine Base in Virginia this summer from Pleasantville, Calif. Max, who has a 6-year-old sister, Ella, will continue his Brineura infusions at Children’s National Hospital in Washington, D.C.

“I don’t want to leave CHOC,” Laura says. “CHOC has done such an amazing job of making this easier on us. I am so grateful for the team.”

Dr. Wang says the Brineura infusions have made it possible for the patients to maintain meaningful interactions with their parents and siblings – despite having such conditions as, in Ely’s case, blindness.

Ultimately, the goal is for CHOC to be considered for a gene therapy clinical trial aimed at giving brain cells the ability to produce the missing enzyme by itself so Batten disease patients wouldn’t have to receive infusions every two weeks. Dr. Wang says such a trial could happen this fall.

“If there’s anything in my power I can do to help these families,” says Dr. Wang, “I’m going to try to make it happen.”

Learn more about CHOC’s metabolic disorders program.

Navigating an epilepsy diagnosis and surgery: Geni’s story

Life was proceeding right on schedule for self-described “drama kid” Genevieve Masson. The 16-year-old, who goes by “Geni,” went to class, hung out with friends and spent time rehearsing musical theater at her high school.

“It was really a normal, not-so-exciting life,” she says.

school photo before epilepsy diagnosis
Life looked typical for Geni, pictured here in her eighth grade photo, before her first seizure.

But two years ago, when Geni was 14, something changed. A small lesion that had been in her brain since birth began making itself known. One night, she woke up and couldn’t move. She figured she was caught in a moment of sleep paralysis and didn’t give it too much thought.

Things quickly turned far more serious. A few days later, Geni was feeling tired at school and decided to take a nap in her coach’s office. That’s when she had her first full-on seizure.

Geni has no memory of what happened next, but those around her became alarmed as her body shook uncontrollably. A teacher called 911 and the next thing Geni knew, she was in an emergency room.

An MRI revealed nothing, as did visits to pediatricians. But not only did the seizures continue, they were occurring more often. The more severe ones occurred at night, while less noticeable ones were happening many times a day. Ultimately, she was diagnosed with epilepsy, but she wasn’t receiving the expert care she needed at nearby hospitals.

“I remember the day she had her first seizure. It was December 18,” says Susan Masson, Geni’s mom. “By that January, there were a couple more. It got to be about 15 to 20 a day. We knew we needed to be at CHOC. We needed to be at a place where we could be with an epileptologist.”

The Massons felt lucky to live fairly close to CHOC, home to one of the nation’s premier epilepsy centers for young people. CHOC’s Comprehensive Epilepsy Program was the first in California to be named a Level 4 epilepsy center by the National Association of Epilepsy Centers, the highest level available. That distinction means that CHOC has the professional expertise and facilities to provide the highest level medical and surgical evaluation and treatment for patients with complex epilepsy.

It was at CHOC that the Massons met Dr. Maija-Riikka Steenari. A pediatric neurologist, Dr. Steenari is an epilepsy specialist, also known as an epileptologist.

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Dr. Maija Steenari, pediatric epileptologist at CHOC

“It’s a fascinating field,” Dr. Steenari says of pediatric neurology and epilepsy. “The combination of working with brains and kids together is the best fit for me.”

What exactly is epilepsy? Basically, parts of the brain go haywire and emit unwanted electrical signals that can cause convulsions and seizures of varying strength. As Dr. Steenari describes it, it’s “a clump of brain cells that don’t quite work the way they’re supposed to, or a cluster of cells in the wrong place. They’re really irritable. They’re known to cause trouble.”

Epilepsy can be the result of brain injury, stroke or, in Geni’s case, a slight anomaly that was present since birth.

November is National Epilepsy Awareness Month, a time to remind people that epilepsy is both fairly common — nearly 25% of the population will experience recurring seizures in their lifetime — and it’s often treatable.

Like others diagnosed with epilepsy, Geni’s first option was medication. She was prescribed anti-seizure medicines, but they didn’t work.

Geni undergoes EEG monitoring at CHOC
Geni underwent EEG monitoring at CHOC to measure electrical activity in her brain.

“Medication works about 60 to 70% of the time,” Dr. Steenari says. “But adding more medications doesn’t always work. A second medication only works about 10% of the time. So, can we do something else to help them with their seizures? That’s where surgery comes into play.”

Having seizures meant that Geni was missing a lot of school, would not be able to drive and couldn’t be left alone. But her family and friends rose to the occasion and helped when they could. And Geni did her best to be a regular teenager.

“I was trying to lead a normal life,” she says. “I would still go to rehearsals.”

Geni needed two surgeries, the first one to determine exactly where the problem was. Dr. Joffre Olaya was her pediatric neurosurgeon.

Geni’s hospital room before epilepsy surgery
When Geni spent time at CHOC, her friends made special decorations for her room to show their support and cheer her up.

“We have these grids that we can put on the surface of the brain,” Dr. Steenari says. “We can map where the seizures are coming from within a few millimeters. We could make a very detailed map.”

The lesion was right next to the part of Geni’s brain that controls language. If her surgeon didn’t have an exact spot to operate, she could lose the ability to speak or write. But Geni was willing to take the risk. Each seizure could cause more damage to her brain and Geni wanted them to stop.

“The doctor said each seizure would do damage to my brain,” Geni said. “I don’t like having constant damage to my brain done. If surgery can take me back to where I can’t write or speak well, I was willing to take the chance.”

Geni prepares for surgery
Geni was all smiles leading up to her second epilepsy surgery.

The second surgery came a few weeks later. Doctors successfully removed the lesion, but Geni faced a number of challenges after surgery that her family was told ahead of time were possibilities. Geni lost automatic movement of her right hand, so she couldn’t do with her right hand what other people do without thinking about it. She was 15 at the time, so before surgery, she had long ago mastered writing without thinking about how to shape each letter. After surgery, she knew how letters should look, but she couldn’t make them. She also couldn’t tie her shoes, brush her hair or teeth, button or zip her clothes, or feed herself.  But Geni and her family treated these more like challenges than setbacks, and occupational therapy helped.

welcome home signs epilepsy surgery
To welcome Geni home after epilepsy surgery, her siblings decorated her bedroom.

“A few weeks after surgery, we went to the library and we got some preschool books on how to write. It was quite frustrating, but luckily, my brain still knew how to do it. It just needed to create new pathways. As soon as I did it, it got easier,” Geni says.

workbooks to help regain skills after epilepsy surgery
Preschool workbooks helped Geni re-master writing after epilepsy surgery.

Talking was hard after surgery, too. Geni would know what she wanted to say, but finding the right words took a little more time than it used to.

“Surgery had knocked over her file cabinet of words,” Susan explains of her daughter’s struggles post-surgery, which got better with speech therapy.

Geni’s family was with her every step of the way. It was heart-wrenching for her parents to see their daughter suffer, but they’re proud of how she handled her journey.

“I cry every time I remember how hard this was, and then I laugh at how much Geni thought it was simply annoying what she had to relearn. These kids are fearless little warriors,” Susan says of her daughter. “She’s a bubbly, vibrant, friendly girl. People love her. I don’t think it ever occurred to her that there was another way to manage through this. The limitations of life when you’re living with epilepsy can be staggering, but we didn’t have time to realize them. As soon as it came up, it ended. We got hit by a Mack truck and then it ended.”

Geni and family in 2019 before surgery
Geni and her family on vacation in 2019 before her epilepsy surgery.

Today, Geni has been seizure-free for 14 months. And while her right arm tires easily and she still sometimes has trouble finding the right words to say, someone meeting her for the first time wouldn’t notice.

Geni back on stage after epilepsy surgery
Geni was back on stage a few months after epilepsy surgery.

“I have my driver’s permit and I’m learning how to drive,” Geni says. “That’s where I am right now. I’m working on a project for my film class and also an online play “Clue.”

Geni should continue to improve with time.

“She’s made remarkable recovery,” Dr. Steenari says. “She’ll continue to get better. If we had let those seizures continue, she would have ended up being much worse in the future.”

CHOC neurosurgeon reflects on 2020, community impact

Dr. Joffre Olaya, a CHOC pediatric neurosurgeon, was recently named one of Orange County’s 25 Most Influential by Modern Luxury magazine. In this Q&A, he shares more about what he’s learned from 2020, the privilege of caring for a vulnerable population, and his work with as medical advisory chair for Make-A-Wish Orange County and the Inland Empire.

dr-joffre-olaya-choc-pediatric-neurosurgeon
Dr. Joffre Olaya, a CHOC pediatric neurosurgeon
How would you describe your mission?

As a husband and father, my personal mission is to keep my family safe, healthy and happy. As a pediatric neurosurgeon and physician leader, I want those same essential things for everyone else in the community. I support CHOC’s mission to nurture, advance and protect the health and well-being of children, as well as Make-A-Wish’s mission to create life-changing wishes for children with critical illnesses.

How does your work help the community?

I take pride in working alongside the incredible team of clinicians at CHOC’s Neuroscience Institute. Every day, we have the privilege of caring for the most vulnerable population. Shouldering this responsibility propels us to deliver the best possible care to our patients facing neurological disorders. I’m humbled that parents entrust us every day with their children’s medical care. I’m excited about the leading-edge technology at our fingertips making pediatric neurosurgical procedures safer and less invasive.

I also value my role as medical advisory chair for Make-A-Wish Orange County and the Inland Empire. From treatment to making a wish come true, I am involved in every step of a child’s journey inspiring hope. I’m a firm believer in the mind-body benefits of a wish — it truly brings a renewed energy to a child and is a critical part of their healing process.

What do you hope the world learns from these challenging times?

I hope we all realize how resilient we truly are as a community. Medical providers have quickly adapted to new guidelines amid a pandemic to continue providing safe, quality care for patients. Parents and caregivers have taken on additional responsibilities while trying to keep their families safe. Our community is learning to juggle even more than we already were.

What is your 2020 motto?

Appreciate the little things. Our lives have changed from having the freedom and safety of going anywhere, seeing anyone and doing anything. Now, for everyone’s safety, we go only where necessary, limit social interaction, — even from family, — and restrict our activities to keep our community healthy. I have learned to “stop and smell the roses.” I appreciate Sunday breakfast with my kids, a morning walk with my wife before work, the beauty of nature during those walks, and the refreshed feeling after getting a good night’s sleep.

What do you recommend to those that want to follow in your footsteps?

Set a goal, make a plan, find mentors and work hard to achieve your dream. Having grown up in poverty, I never would have imagined doing what I get to do today as a pediatric neurosurgeon. I love what I do and couldn’t imagine doing anything else. I have the opportunity to help others on a daily basis. I believe that devoting my life to helping others is the most rewarding thing I can do with my life.

What has been your silver lining this year?

The pandemic has forced us as a society to slow down. Personally, this has given me the opportunity to prioritize what is truly important. I have focused on spending more time with my family and taking care of my own health. Having limited travel options, I have truly enjoyed spending more time outdoors and hiking locally.

What does the world need more of now?

Hope. It is a scary time right now with people feeling threatened with their health and personal safety. After the realization of the pandemic, society has learned that our sense of reality can change in an instant and things are uncertain. Working at CHOC and with Make-A-Wish I have learned to appreciate how much hope can improve the outcome of a person’s life.

Wired for hope

Every morning when she awakes, Sydney Amato begins her daily battle with her body.

If she’s lucky, the 16-year-old will have gotten a handful of hours of uninterrupted sleep – dreaming, perhaps, of doing what most healthy kids her age take for granted:

Hanging out with friends. Going to school. Learning to drive.

Because of a neurological condition called dystonia, Sydney, who is in excellent cognitive health but speaks and walks with some difficulty, suffers from involuntary and near-constant contraction of muscles in her neck, arms, legs and trunk.

Her mind is unable to control the painful jerking that makes most of her body twist and go rigid, her muscles moving out of normal sequence.

Born a right-hander, she can feed herself with some struggle using her left hand. She wants to dress and put on makeup herself, but those normally simple tasks become lengthy ordeals.

“My body fights me all the time,” says Sydney, trying to distract herself in her hospital bed one morning by watching an old episode of “Keeping Up with the Kardashians.” Listening to her favorite music – Ariana Grande, Lauren Daigle, Drake – can only temporarily transport Sydney away from her debilitating condition.

“She knows what she wants to do,” says her father, Louis. “But her body won’t let her.”

Specialists at CHOC are working hard to change that.

CHOC patient and her father
Sydney, pictured with her father.

A first for CHOC

Recently, a team led by Dr. Terence Sanger, a physician, engineer and computational neuroscientist who joined CHOC in January 2020 as its vice president of research and first chief scientific officer, and Dr. Joffre E. Olaya, CHOC’s functional restorative neurosurgeon, implanted several temporary electrodes into Sydney’s brain. Collaborating with CHOC physicians was CHLA neurosurgeon Dr. Mark Liker.

Dr. Terrence Sanger, chief scientist at CHOC Children's

The surgery marked the first time a patient with a movement disorder at CHOC underwent a procedure called deep brain stimulation (DBS).

Working in perfect harmony as a team, Dr. Sanger and Dr. Olaya oversaw the first portion of a three-stage surgery on Sydney. As the surgeon, Dr. Olaya placed the leads following advice from Dr. Sanger, the neurologist, on where they should go.

 In the procedure, millimeter-thick electrodes were precisely positioned into the basal ganglia region of Sydney’s brain – about 3 inches deep. The surgery involved the use of the ROSA robot, the same tool that has been used during brain surgery on epilepsy patients at CHOC since 2015.

Considered one of the most advanced robotized surgical assistants, ROSA — which stands for robotic operating surgical assistant — includes a computer system and a robotic arm. It’s a minimally invasive surgical tool that improves accuracy and significantly reduces both surgery and anesthesia time.

The ROSA robot helped with implanting and targeting the electrodes and a portable operating-room CT scanner confirmed their position.

Turning down the volume

 DBS is designed to ease Sydney’s condition by sending electrical currents to jam her malfunctioning brain signals.

Think of turning down the volume on your car radio.

“Nobody really understands the cause of dystonia,” Dr. Sanger explains, “but there’s probably too much electrical stimulation going on in the motor areas of the brain. We’re trying to calm down that extra noise.”

Although DBS dates to the 1960s, it wasn’t until the 1980s that the modern era of using it to treat adult patients with tremor and Parkinson’s disease began.

In 2000, Dr. Sanger, working with engineers, data scientists, neurosurgeons and others, began implanting electrodes in pediatric patients.

Instead of the established method of placing the leads at predetermined sites and hoping they worked, Sanger and his team, just as they did in Sydney’s case, placed temporary leads to best assess where they should go permanently based on patient response.

In 2016, Dr. Sanger began honing DBS to treat children with dystonia. Before the surgery on Sydney, Dr. Sanger had overseen DBS on 26 children using the same three-stage technique. He says 80% of those children have seen successful results.

Early signs

Sydney began showing symptoms of dystonia – tremors in her hands – when she was 5 ½ years old.

A year later, she was using a wheelchair. She had her first brain surgery at age 7.

Since then, “she’s been all over the U.S.” seeking the right treatment for her condition after several setbacks, her father says.

But her condition was not improving.

Early this year, a neurologist in Kansas City, Missouri, recommended that Sydney see Dr. Sanger.

“I asked him, ‘If Sydney was your kid, where would you go?’” Louis Amato recalls. “He said, ‘Hands down, Dr. Sanger.’”

The COVID-19 pandemic pushed Sydney’s surgery to mid-August.

Sydney already had two electrodes in her brain that were only partially working when she came to CHOC in early August for surgery.

After two extensive run-throughs with their team, Dr. Sanger and Dr. Olaya, in a six-hour procedure that at one point required nearly 20 people in the operating room, implanted more electrodes to give Sydney a total of nine.

Dr. Joffre Olaya, a pediatric neurosurgeon at CHOC Children's
Dr. Joffre Olaya

After surgery, optimism

On Thursday, Aug. 20, six days after Sydney’s surgery, Dr. Sanger stopped by her room at CHOC Hospital. The room was decorated in purple, Sydney’s favorite color.

Dr. Sanger greeted her as CHOC staff members, joined by members of Sanger Lab, Dr. Sanger’s research laboratory that conducts research in pediatric movement disorders, prepared to have Sydney walk back and forth down a hallway while connected to electrical equipment programmed to record signals in her brain and muscles.

A thick coil of multicolored wires snaked from under a large white bandage covering Sydney’s head. Extending about 6 feet, the wires were plugged into specialized recording equipment controlled by Jennifer MacLean, a CHOC pediatric nurse practitioner whose job was to manipulate the strength of electrical charges affecting the four points of contact on each electrode.

The goal: determine which charges worked best and on which electrodes.

“It could have turned out that the DBS procedure made no difference,” Dr. Sanger says. “But we’ve seen a very good response in Sydney.”

For example, her once mostly useless right hand was working much better.

“It gives you goosebumps,” Louis Amato says.

After taking a bite of a veggie burger and sipping some water, Sydney started to walk.

Following her were seven CHOC and Sanger Lab specialists.

“Go nice and slowly,” Jennifer told Sydney. “You’re going too fast for us!”

Perhaps Sydney was anxious to get back to riding Tigger, a quarter horse, in her hometown of Carthage, Missouri. She has been riding him for six months.

CHOC patient horseback riding
Sydney is eager to get back to riding her favorite horse, Tigger.

“Her balance isn’t bad on the horse,” says Louis Amato.

Sydney also loves to tan by her pool and swim.

What she wants most, however, is to be freed from her body so she can return to school and do what most teens enjoy.

“It’s stressful,” says her mother, Angie. “She has a lot of friends her age, but she can’t do a lot of the things they do. She has her days when she can get really upset.”

Now, however, working with Dr. Sanger, Dr. Olaya and the entire team at CHOC, the Amatos are more optimistic than ever.

“We’re hopeful that this is going to be a big life-changer for her,” Angie Amato says. “That would be the best thing that could ever happen – better than winning the lottery.”

‘The A-Team’

After crunching numbers for a week to assess which of the nine electrodes proved to be the most effective based on how Sydney responded to varying degrees of electrical currents, Dr. Sanger and his team settled on four electrodes that were permanently used to treat her condition – three new ones, and one existing one.

The team performed this second surgery on Sydney in late August.

In the third and final surgery, successfully completed in early September, a rechargeable generator that powers the DBS leads was implanted in Sydney’s chest.

“As we get better and better at this and as the technology progresses, we’ll be able to do this on kids who are less sick than Sydney,” Dr. Sanger says.

Dr. Sanger and Dr. Olaya are poised to dramatically improve the lives of many more patients like Sydney at CHOC.

“I’m really excited that we will be doing more of these procedures to help pediatric patients with movement disorders and significantly improve their quality of life,” says Dr. Olaya. “I look forward to continuing to provide this type of personalized care.”

a CHOC patient poses with her mom
Sydney, pictured with her mother.

Angie and Louis Amato say Sydney has never gotten this much special attention during her 11-year-plus medical journey.

“Here at CHOC,” Louis Amato says, “we feel like we’re with the A-Team.”

Says Sydney: “I’ve never felt this much confidence and this good about treatment before.”

My daughter’s journey from seizures to surgery

By Celeste P., mom of CHOC patient Camila

When my daughter Camila was going through epilepsy surgery, I read stories about other kids’ success, and gleaned hope from them. As much as I learned from her doctors and nurses, it was helpful to read a parent’s perspective. I now share our journey in the hopes that it will be a source of comfort to other parents.

A mother’s instinct

During my pregnancy, an ultrasound showed that my baby had heart abnormalities. Camila underwent an MRI after she was born, and the imaging confirmed she had tuberous sclerosis complex (TSC) — a disorder that causes growths in multiple organs including the brain, heart, kidney and lungs.

The growths in her brain associated with TSC often cause seizures. In the days after Camila was born, I noticed the right side of her body seemed to twitch, and my instincts told me she was having seizures. I mentioned it to her nurse, but she dismissed my worries.

We were sent home as if everything were normal, but my gut told me something was wrong. That’s when I called CHOC. Ahead of our appointment with a CHOC neurologist, I kept a journal to track Camila’s episodes, including what her body did and how often it happened.

The journey begins

We met Dr. Lily Tran, a pediatric neurologist with special training in epilepsy, when my daughter was a few months old. Over the next few years, we tried several different treatment options including the ketogenic diet, steroid treatment and countless medications.

Camila_monitoring
Camila undergoing monitoring

Most treatments would follow the same pattern — the seizures would stop for a couple months, but then they’d come back stronger than they were before. Any progress Camila made during those seizure-free months would disappear, and she’d regress even further.

My husband and I just wanted to do everything possible for our daughter to have the best outcome.

Before surgery

Over the next few years, our lives revolved around trying to find a treatment that would stabilize her seizures. As open and willing as we were to try new treatment, this disease was relentless. Just before Camila’s fourth birthday, her condition finally regressed to the worst point it had ever been.

She stopped eating, was having 15 to 20 seizures per day, and was constantly throwing up. We had to pull her out of school. We couldn’t leave the house because she could no longer hold her head up, and I was scared to put her in her car seat. I had to take a leave of absence  from my job because my daughter’s health was deteriorating so badly.

We weren’t living anymore; we were in survival mode.

I had been pushing for surgery for a couple years but had wanted to try every other treatment option before we got to that point. When Camila stopped eating, smiling and going to the restroom, I was done trying treatment.

Dr. Tran confirmed through a series of tests that Camila was a candidate for surgery.

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Dr. Lily Tran, a pediatric neurologist and epileptologist at CHOC

Guides on our journey

Before we met Dr. Joffre Olaya, a pediatric neurosurgeon at CHOC, Dr. Tran said, “I’ve worked with a lot of neurosurgeons in my career, and Dr. Olaya is amazing. I wouldn’t put your daughter in his hands if I didn’t trust him.”

joffre-olaya-md
Dr. Joffre Olaya, pediatric neurosurgeon at CHOC

We knew surgery was the right decision, and that we had a good team in place, but as a mom I was still worried.

Camila’s care team at CHOC walked us through the whole process from surgery to recovery. Since most of Camila’s seizures originated from the left side of her brain, the plan was to disconnect the right and left sides of her brain and remove a portion of her left temporal lobe. This essentially “quieted down” the left side of her brain.

Camila’s care team answered all our questions. Although their job was to care for my daughter, they did a good job caring for us as parents, too.

Any lingering worries I had subsided when I happened to meet the mom of another Dr. Olaya patient at a grocery store in the weeks before surgery. What started as a stranger complimenting my daughter’s blanket turned into sharing stories and experiences and ended with total peace of mind.

I needed another parent to tell me it was going to be OK. She told me not to be scared and reminded me that we were in good hands with Dr. Olaya. That woman also put me in touch with another mom whose child had undergone the same surgery Camila was scheduled for. Being able to connect with a parent who understood exactly what I was going for meant the world to me.

Recovering from epilepsy surgery

Camila’s surgery lasted more than six hours.

While she recovered in the hospital, Dr. Olaya visited her every single day to check on her. He had a wonderful bedside manner.

Deciding to put our daughter through brain surgery was the biggest decision my husband and I had ever made, and I don’t know if we would’ve been as comfortable with that decision without Dr. Tran and Dr. Olaya.

Camila spent a month at CHOC recovering from surgery, and then she moved to a rehabilitation facility. Extensive rehabilitation is needed to help the brain continue healing after surgery. While she was there, she developed hydrocephalus— fluid buildup within the brain. This prompted a trip back to CHOC for a surgery to drain the fluid, and a one-month hospital stay to recover from surgery.  We went back to CHOC for another surgery to drain that fluid and month-long recovery.

Life after epilepsy surgery

These days, Camila is doing amazing. Before surgery, I would have to look at old photos of my daughter to remember what her smile looked like. The first time I saw her smile after surgery, it made everything worth it.

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Camila celebrating her 5th birthday

Although her seizures returned a few months after surgery, they were less frequent and less severe than before surgery. We didn’t want to put her through another surgery, but fortunately we’ve been able to keep seizures at bay through other treatments.

As the parent of a child with special needs, we had learned over the years to find our version of normal. We had gotten used to Camila’s feeding tube – a necessity because she was unable to eat by mouth due to her developmental delay caused by TSC, and her frequent seizures. We had normalized frequent trips to the doctor and kept a bag in the car for emergency hospital visits. That was all normal for us.

We never pictured being able to do things that typical families do all the time: going to the grocery store or the mall, being away from home for more than two hours, traveling, or sleeping well at night knowing your child is safe. Now, those are all realities for us.

Besides regular checkups, we haven’t had to go back to the hospital since we were discharged from surgery recovery.

Pre-surgery, Camila wasn’t able to go swimming because of her frequent seizures. Now, she loves going to the pool and playing with other kids.

We had never let ourselves dream of traveling with my daughter, but we recently took family trips to Disney World and Mexico.

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Camila swimming on vacation

Camila is back in school, and recently won awards for being the most involved and most improved.

All we want is for my daughter to be happy; everything else is just the cherry on top.

My advice to other moms

To another parent reading this whose child has epilepsy, know that you are not alone.

Know that it’s OK not to have all the answers. You will want to be strong for your kids, but this is a scary time. It’s OK to feel scared and sad. It’s OK to have bad days. Allow yourself the space and time to feel upset or sad about your situation.

I’m eternally grateful for the epilepsy mom I met in the grocery store, and the parent she introduced me to as well. In addition to those sources of support, my daughter’s care team helped me get involved with a support group for epilepsy parents. We help one another navigate the medication and treatment process from a parent perspective – something that at times can feel overwhelming. I would encourage any parent who has a child with epilepsy to seek out a similar group.

You and I may be strangers, but we’re really not — we’re family.