From CHOC patient to CHOC donor: Katrina’s story

When Katrina, now age 28, was a teenager, she knew about type 1 diabetes because her friend had it – she just never expected to be diagnosed herself.

Katrina’s journey to a diagnosis started after she experienced typical signs and symptoms of type 1 diabetes – weight loss and extreme thirst, among others.

During a cheerleading practice, she mentioned she felt thirsty “all the time” and her mom’s ears perked up. This prompted a trip to her pediatrician, who tested her blood sugar levels. They were 707, and a typical 13-year-old’s levels should have been around 100.

“Being diagnosed with type 1 diabetes at age 13 was life-changing,” Katrina says. “But having my best friend and her brother with type 1 and their mom being a nurse helped me navigate the early days of it and not go in blind.”

She adds that the support she received from her CHOC team in the early days of her diagnosis also made the transition into her “new life” much easier.

“The care that I received at CHOC was above and beyond,” Katrina says. “That time in a girl’s life can be the hardest of all – the stress of high school, hormones and sports to name a few – but it was definitely so much easier with the help of Dr. Clark.”

Her primary pediatric endocrinologist was Dr. Susan Clark, a longtime CHOC physician and nationally-recognized expert in diabetes and endocrinology who passed away in 2017.

“Dr. Clark was the reason I became so successful in managing diabetes. She always had a positive outlook,” Katrina says.

As counting carbs and taking daily insulin injections became her norm, Katrina also began quarterly checkups with the endocrinology team at CHOC.

“I always came to appointments with so many questions. I’m a sweet tooth, and no matter what food I asked my team about eating, they would always come from a place of, ‘Yes you can have anything you want. We will help you figure things out safely,” Katrina recalls. “I was in high school at the time, and if my friends were going to 7-Eleven to get ICEEs, I didn’t want to feel held back; I just wanted to be able to enjoy my adolescence.”

Also notable about her frequent appointments, Katrina says, is that Dr. Clark and her team took the time to truly partner with her and allow her to take an active role in her own care.

“Dr. Clark would address me first – not my mom or dad. She asked her questions to me. ‘How are things going? What do you want to change?’” Katrina recalls. “It’s easy to feel belittled at that age, but Dr. Clark always treated me like an adult and made me feel empowered.”

For those reasons, Katrina considered her CHOC visits not a chore, but “like going to see an old friend.”

Although Dr. Clark primarily managed her care, Katrina became familiar with other endocrinologists and staff at CHOC during her frequent appointments – including Dr. Mark Daniels, medical director of pediatric endocrinology at CHOC.

Dr. Mark Daniels
Dr. Mark Daniels, medical director of pediatric endocrinology at CHOC

CHOC experience inspired her career

Katrina’s career interests were ultimately impacted by her CHOC experience. After college, she joined CHOC as an intern, working on with the research team for CHOC’s endocrinology program.

“My experiences at CHOC were so positive that my career interests flipped to the medical field. Having the chance to work with the endocrinology team that diagnosed and took care of me was like a dream,” Katrina says. “Interning at CHOC confirmed in my mind that if you have a child and something happens – diabetes or anything else – CHOC is the best place you can find. Everyone genuinely cares about the patients and employees.”

As part of her internship, she shadowed Dr. Daniels.

“His rapport with patients and the rest of the medical team was amazing. He knows how to talk to anyone and make them feel empowered, and like what they have to say is important,” Katrina recalls. “He was always so much fun to have a conversation with because I would always learn something new.”

Transitioning to adult care

Katrina’s care was transitioned at age 21 out of CHOC to an adult doctor, which she has found to be a much different experience than the one she had growing up.

“When I was at CHOC, all my appointments felt like open conversations; they never used an accusatory tone. I was empowered to make safe, health decisions. I was part of the solution,” she says. “At my adult doctor, sometimes I think, ‘You don’t have diabetes. You don’t get it.’ But when I was at CHOC, my walls were always down.”

Around that time, she met her now-husband Jake at a fundraiser for PADRE Foundation (Pediatric Adolescent Diabetes Research & Education) – a non-profit that serves thousands of Southern California families living with type 1 diabetes through free education classes taught by CHOC educators and a variety of youth and family programs.

Jake, a firefighter, has been living with type 1 diabetes since he was diagnosed at age 3.

Giving back

Given Katrina’s diagnosis and her family’s philanthropic spirit, raising funds to find a cure was a natural way for the family to give back to CHOC. Starting in 2009, the family of runners organized yearly charity races, dubbed Katrina Kures, to raise money for CHOC researchers who are studying diabetes. To date, the family has raised nearly $200,000.

Katrina speaks at Katrina Kures fundraiser
Katrina addresses the crowd at a Katrina Kures fundraiser

“Part of why we give back to CHOC is that we’ve had such a positive experience there as a family. If we had had a negative experience, we wouldn’t do what we do for CHOC,” says David, Katrina’s dad. “CHOC takes as much of an interest in research as we do. Every time we go to CHOC, you can tell they’re doing something amazing. You can see how CHOC is helping the most vulnerable and the most innocent. We want the money to go toward research for a cure. I hope the cure for diabetes will happen in my lifetime. It’s getting closer.”

Dr. Daniels and his team oversee the funds raised and donated annually by Katrina’s family.

“Dr. Daniels is at the top of his game for research. Whatever he thinks will have the most impact on finding a cure, we’re all in,” says Beth, Katrina’s mom.

The high opinion the Jewell family has of Dr. Daniels goes both ways.

“The Jewell family’s continued dedication to making a better future for people living with type 1 diabetes is truly inspiring. Every time I am around Dave, Beth, their son Jesse, Katrina and Jake, I feel the passion that they have for this cause, and it motivates me and everyone in their presence to work harder, be better and strive for a permanent solution to diabetes. They are my heroes,” Dr. Daniels says.

check presentation
Dave and Beth present a fundraising check from Katrina Kures to Winnie Tran, CHOC Foundation’s director of community engagement, and Dr. Daniels

Finding a cure is especially important to Katrina, as she and her husband will soon expand their family.

“Having the money go toward finding a cure is huge, not just for us, but especially as we’re expecting our first child, it makes the cause so much bigger,” she says. “We’re very proud to be partnered with CHOC and excited about what’s to come.”

Advice to others with diabetes

Living with diabetes for nearly two decades has given Katrina a unique perspective on the disease. She hopes to give other people living with diabetes a message of inspiration.

“Consider what you can control and what you can’t control. Everyone goes through difficult times in life. Your outlook affects the way diabetes affects you,” she says. “Diabetes is a huge hand to be dealt. If I went into it with a negative mindset, I wouldn’t want to do injections, which would affect my blood sugar levels.”

Katrina and Jake hope to show others living with diabetes all that is possible, despite their disease.

“A lot of people’s preconceptions about diabetes come from knowing someone with type 2 diabetes,” Katrina says. “I want people to know that people with type 1 diabetes are just as free with food as you are; there’s just an algorithm running in our minds when we see a plate of food, and we’re making different calculations and decisions than you have to.”

As a paramedic and firefighter, Jake’s job is grueling and physically demanding. Many people didn’t think such a career was possible for him.

“In my paramedic program, we were learning about different medical conditions and they basically said that people with diabetes can’t exercise more than 30 minutes at a time and if they miss a meal they will become hypoglycemic, which isn’t necessarily true,” he recalls. “Diabetes is something that I live with and work with, but it doesn’t run my life.”

Katrina adds that having a strong team around you is essential to maintaining proper health and a positive attitude.

“Because I had a great support system, and the medical care I received at CHOC was so amazing, I was able to live a full life growing up,” she says. “I could do cheer team, earned above a 4.0 GPA in high school, go away to college and manage my diabetes on my own, go on runs and do half marathons. All of these are particularly big accomplishments for someone living with diabetes.”

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For inspiring cancer survivor, it’s 1st and goal

Israel, a standout athlete, spent his junior year of high school fighting cancer and returned home just before the onset of COVID-19. Now a senior, he’s working to get back on the football field and grateful to have his cancer journey behind him.

Every morning, 17-year-old Israel begins his day by lifting weights and, on alternate days, adding in a two-mile run.

Then, it’s time for a hearty breakfast fit for any teen bulking up for football season – four or five eggs, bacon and two slices of toast.

Israel Escobedo, a high school senior, then flips open his laptop for virtual classes.

In the afternoon, he again pumps iron to add muscle to his 6-foot-1 frame.

Israel, a middle linebacker, is preparing himself for a 10-game season that may or may not start in December, depending on COVID-19 guidelines.

That he’s in such great shape – just 15 pounds short of his usual weight of 200 – is something to behold, considering that earlier this year Israel underwent a bone marrow transplant (BMT) after being diagnosed with high-risk B-cell acute lymphoblastic leukemia (ALL).

Israel’s journey has been one of baby steps, hurdles and at times, low points.

But through it all, his clinicians at the Hyundai Cancer Institute at CHOC say Israel has exhibited grace, kindness and a positive attitude, despite the fear and pain that comes with any cancer diagnosis.

Israel saw his grandfather Jose battle prostate cancer for eight years before he passed away several years ago. So, when Israel found out last year that he had leukemia, he was floored.

“Honestly, I was just scared,” Israel says. “I’ve always had big goals and plans. I was always outgoing and healthy. I didn’t know what to expect.”

But how Israel handled his diagnosis and subsequent BMT – a process that can bring with it a grueling recovery process, with a brand-new and vulnerable immune system, especially for the first 100 days – has inspired his team at CHOC.

“My goodness,” says Miranda Wichelns, a social worker who helped care for Israel. “We’re all kind of in awe of him.”

A shining example

Israel was not able to attend the first day of in-person varsity football practice this season, but his pediatric oncologist Dr. Rishikesh Chavan hopes that Israel may be able to practice with his teammates soon.

For Dr. Chavan, who also serves as director of CHOC’s Blood and Marrow Transplant Program, Israel’s excellent recovery from his BMT is a shining example of how most BMT patients eventually resume normal lives.

“A lot of people think of a transplant as a big, bad thing,” Dr. Chavan says.

With the proper medical care, it’s not.

“When you look at Israel today,” Dr. Chavan says, “you would not be able to tell that he had a bone marrow transplant just eight months ago.”

A perfect match in the family

Back in August 2019, Israel wasn’t feeling his usual healthy self. He found it difficult keeping down food.

His dermatologist, who had been checking Israel’s blood monthly because of the acne medication he had been prescribed, noticed an alarmingly low number of white blood cells.

Israel’s primary care physician was also very concerned and referred him to CHOC.

On Israel’s first night at CHOC, his child life specialist Carly helped ease his jitters.

The next day, pediatric oncologist Dr. Carol Lin diagnosed Israel with ALL.

Israel underwent several rounds of chemotherapy before Dr. Chavan and Dr. Lin, along with the leukemia team, determined he needed a BMT.

Israel receiving treatment at CHOC
Israel receiving treatment at CHOC

The actual day of BMT is relatively simple, akin to receiving a blood transfusion – but a lot goes on before and after the procedure.

Israel needed a donor and his sister Genesis turned out to be a perfect match.

“I just didn’t want to sit around and see him suffer,” says Genesis, who was 14 at the time of the transplant. “It was good to know I could actually help him.”

Israel is forever grateful for his sister.

“I love her,” he says, adding with a laugh, “but there are days I can’t stand her.”

Undergoing a bone marrow transplant

 The process of donating her blood-forming cells – or blood stem cells – for transplantation wasn’t too painful, Genesis says.

After a BMT, a recipient’s immune system becomes like that of a newborn baby. The immune system needs to develop and be cared for to keep toxicities from wreaking havoc on the body.

Dr. Chavan uses the metaphor of gardening to describe a BMT.

“It’s like taking a seed from a plant and then replanting it somewhere else,” he says. “Think about the cancer cells as weeds in your garden. Before the transplant, through a combination of chemotherapy and radiation, you are not only able to get rid of the weeds, but you are also preparing the soil. Then you plant the new seed.”

Keeping a positive attitude throughout treatment

 A common complication following a BMT is Graft-versus-host-disease (GVHD), in which the recipient’s new immune system, which is actually the donor’s immune system, may attack the recipient’s body. Symptoms include rash, mouth ulcers, abdominal pain, vomiting and diarrhea. Steroids and other immunosuppressive medications are used to treat the condition while preventing infections.

Israel had a moderate case of GVHD but bounced right back.

His lowest point, he said, happened when he returned home from CHOC just before the COVID-19 pandemic took hold in mid-March. The emotional toll of his journey finally sunk in, and it took time to adjust to a new normal.

“But I got through it and I feel amazing now,” he says. “I put myself to God, and He got me through it.”

Israel near the ocean

Israel credits his close family — Genesis, his father Juan, his mother Marcia and older brother Joshua — and his team at CHOC for helping him get through his medical crisis.

“They have some of the most amazing people there,” Israel said of CHOC. “They made me feel like I was at home. They’re great people.”

CHOC staffers noted how polite Israel was throughout his treatment and BMT recovery.

Monika Benson, a registered nurse, was Israel’s post-transplant case coordinator.

“He’s an incredible young man,” Benson says. “His outlook during this has been amazing. He’s one of the sweetest kids I’ve met. A lot of bone marrow transplant patients get beat down. He had his down moments, but he remained positive through it all.”

Benson noted that BMT patients go through a lot of social isolation. Most can’t even leave their hospital room for 10 to 20 days post-transplant while their new immune system is at its most vulnerable level.

“Going into the procedure positive and coming out of the transplant positive can make a big difference,” Benson says.

Israel says with his positive attitude, he was simply demonstrating lessons he’s been taught since day one.

“My whole life, I’ve always been taught manners and to respect my elders. I must respect others so I can be respected,” Israel says. “And I’m a very positive and energetic person. I’m always moving with a smile on my face every day.”

Israel with a CHOC nurse
Israel with one of his CHOC nurses Alex, in a photo taken before the COVID-19 pandemic

The importance of wearing a mask

 Living through a pandemic – while recovering from cancer treatment and a BMT – has its challenges, but one thing Israel was already used to doing even before COVID-19 hit was wearing a mask.

He recalls one day earlier this year, when he was watching his teammates practice amid his chemotherapy treatment leading up to his transplant. He didn’t wear a face covering that day and got so sick he had to be hospitalized.

“I believe masks are a big help,” he says.

Masks have always been a common recommendation and practice for post-BMT patients at least in initial days post-transplant.

Looking ahead

Before he was diagnosed, Israel was looking forward to playing football in college or possibly joining the military.

Now, he wants to become a nurse.

“A lot of nurses helped me get through this,” he says. “I want to return the favor and help kids that are going through the same thing that I went through.”

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A lifelong battle with a rare disease: Caleb’s story

When Caleb was born, his parents were thrilled to grow their family with a healthy baby boy. The first two years of Caleb’s life were typical and the family of four enjoyed spending time together.

Three years later, his mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis that would alter the course of his family’s future.

Journey to a life-changing diagnosis

At Caleb’s 3-year well-check, his mom Marie noticed he’d begun to walk oddly, and she mentioned it to his pediatrician. That doctor performed a physical exam and noticed the bones in Caleb’s chest weren’t growing as they should have been, so he ordered X-rays of his chest and hips which eventually came back normal.

“I still remember when we got the clear X-rays and our pediatrician told us, ‘I still think there is something wrong with Caleb. I don’t know what it is yet, but we are going to find out’” Marie recalls. “I knew he had been a pediatrician for decades and treated thousands of children and I trusted his instinct. That is when the process really began, and every moment counts when you’re searching for a diagnosis.”

Caleb’s pediatrician referred him to Dr. Touran Zadeh, medical director of genetics services at CHOC. Through a blood sample and testing, she was able to diagnose Caleb with mucopolysaccharidosis (MPS) type II, a rare lysosomal storage disease.

What is MPS II?

Six out of 1 million children are diagnosed with MPS II. The lysosomes in each cell are required to get rid of the cellular waste that each cell produces. Caleb’s lysosomes do not work properly, so his body cannot eliminate the cellular waste. His body stores the waste in his joints, bones, heart, liver and lungs — almost every organ system in his body is affected.

There are seven types of MPS, all of which are inherited and can share very similar physical symptoms. The physical symptoms may include thickening of lips and skin, enlarged liver and spleen, hernias, recurrent ear infections requiring ear tube placement, joint pain and stiffness, and short stature. Neurological symptoms are present in some types of MPS and may vary in severity.

Meeting his care team

“Within a few days, we were in CHOC’s metabolic clinic and meeting Dr. Raymond Wang, a metabolic disorders specialist,” recalls Caleb’s dad Rory. “It felt like our world was crumbling down. Our dreams for Caleb were crushed. But we knew that Dr. Wang had a tremendous amount of compassion; he was so concerned for Caleb.”

Caleb and Dr. Wang at CHOC
Dr. Wang and Caleb

In the metabolic clinic, the family found the comfort they had been seeking.

“The moment we walked into CHOC, I finally felt comfort,” Marie says. “Our metabolic nurse was very friendly and concerned about us.”

Rory adds, “When we walked into the patient room, we weren’t just another number. We had all these experts in one room, but they also had really big hearts.”

Over the past 11 years, the family has since formed a special bond with each of the doctors on their care team, but especially with Dr. Wang.

“Dr. Wang was there to encourage and comfort us,” Rory says. “Our faith also helped bring us through the storm.”

Navigating life with MPS

A few months after Caleb’s diagnosis, his team placed a port-a-cath in his chest to accommodate his weekly infusion treatments. Caleb receives a four-hour enzyme replacement treatment every week to help eliminate the buildup of cellular waste in his body. This treatment helps patients with MPS II but is limited to only reaching soft tissue such as the liver, spleen and kidneys; it does not reach the joints, spine or brain.

For the first year, he received this treatment at The Dhont Family Foundation Outpatient Infusion Center at CHOC Hospital. To help comfort Caleb and get him through the treatments, the staff would give him a new toy every week.

“When we transitioned to receiving weekly infusions at home under the care of a home health nurse, Caleb was so used to getting a new toy every week that we decided to start buying him toy cars,” Marie says. “He has collected over 125!”

Around that time, Caleb was also placed on two heart medications to treat a thickening valve and enlarged heart, which is a part of MPS II. The medications Caleb started taking at age four are typically prescribed to adults. Dr. Anthony Chang, a pediatric cardiologist and CHOC’s chief intelligence and innovation officer, sees Caleb every three to six months.

“Putting our toddler on multiple heart medications was devastating,” Marie says. “I would hide his heart medicines in Cheerios just to get him to take them.”

Dr. Aminian and Caleb
Dr. Aminian and Caleb

Over the last 11 years,  Caleb has had a number of surgeries and procedures at CHOC, including hernia repair; removing his adenoids and tonsils with Dr. Gurpreet Ahuja; double knee surgery with Dr. Afshin Aminian; MRIs and ultrasounds to monitor his enlarged liver, kidneys and spleen; and additional MRIs of his head, heart and spine to monitor the buildup of cellular waste.

Dr. Ahuja and Caleb
Dr. Ahuja and Caleb

He’s also under the care of Dr. Anchalee Yuengsrigul, CHOC’s medical director of pulmonology. Most recently, Dr. Yuengsrigul helped educate Caleb’s family on how to protect Caleb from COVID-19 given his pre-existing conditions.

Dr. Yuengsrigul and Caleb
Dr. Yuengsrigul and Caleb

A parent’s perspective

Although Caleb never developed a fear of going to the doctor despite a childhood filled with doctor’s appointments, sometimes when he was younger, he would tell his parents that he was tired of all the doctor visits.

“As a mom that was hard for me to hear because I couldn’t tell him, ‘We can take a break’ because he will be doing this for the rest of his life,” Marie says. “This disease is life-limiting and life-threatening.”

Rory echoes that strain of wanting to make your child’s pain go away and not being able to do so.

“Dads are supposed to fix everything, and moms are supposed to make everything feel better. And when you don’t have the ability to do that, our faith was the only place we could go,” Rory says.

Rory also encourages parents to be mindful of the places they seek out information online.

“It’s important for parents to be careful about what they look at on websites. When we got our diagnosis, we found a lot of scary information online and we were already dealing with getting bit by this diagnosis,” he says. “Always go back to your physician for up-to-date information on your child. Researching online may create more anxiety. These physicians know your child, and they know where to direct you for accurate information”

Two years ago, Caleb’s MPS spread into his eyes.

“That was a blow to us. With MPS, you have times of calmness for a while and then devastating news comes. We take one day at a time, or even one step at a time,” Marie says. “As parents, you get these windows of calm waters, and we have learned to take advantage of those as a time to recharge because you never know the next wave is coming.”

Focusing on what’s most important

Becoming busy with everyday life can make it easy to get swept up in stressors that don’t really matter in the end, Rory says.

“Instead of focusing on to-do lists, I try to focus on, ‘Do my kids know I love them today? Does my wife know I love her today?’”

Marie shares that the family sees every day as a gift of life

“Early on, we learned that every day and every year we had with Caleb was precious. Every birthday is special – we go all out and shower him with gifts and love,” she says. “We live life to the fullest because none of us know what tomorrow will bring.”

Caleb’s life today

Caleb, who is now 14 years old, is an avid runner, something he started when he was 7 years old. His story offers hope, inspiration and courage to others daily.

“Running with MPS is very challenging. Someone who has MPS typically struggles with joint stiffness and pain.  It bears some similarities to arthritis,” Dr. Raymond Wang says.

Caleb is also an avid hiker and has climbed tall mountains at a variety of national parks across the country with his family. He exercises every day, whether it’s riding a stationary bike, running or lifting weights. He also enjoys horseback riding, whitewater rafting and hiking.

Caleb-and-family-on-vacation
Caleb with his family on vacation.

“Daily exercise has kept him mentally healthy and helped him physically as well,” Marie says. “Early on, his doctors told us to keep his joints flexible so that someday, when and if there is a cure, he will be ready for it. We try to keep Caleb as healthy as we can. That is why exercising is so important.”

In addition to daily activity keeping Caleb physically and mentally strong, his parents want to ensure he never feels limited by MPS.

“You cannot allow this disease to dictate your life. Of course, we have to be mindful of limitations that his doctors tell us, but there is still life to be lived,” Rory says.

Giving back to CHOC’s

In 2014, Caleb and his family joined CHOC Walk in the Park. Their team has grown in size every year since.

“For all that we had been blessed with by CHOC, we wanted to give back and help support other families,” Marie says.

Rory adds, “As a patient, you’re on the receiving end. We wanted to be on the giving end. We give back because we want Caleb to be a part of helping to find a cure and helping other families in some way.”

Caleb’s gotten creative in the past with various fundraising efforts including an ice cream fundraiser, but these days, Caleb is running as to raise funds. This summer, he ran 78 miles – or roughly the equivalent of three marathons – to raise money for CHOC.

“We were so proud of Caleb. He was dedicated to getting up early and going running,” says Marie, who adds that sometimes family members would join Caleb for runs.

“Running is important for our mental health as a family,” Rory says. “His doctors have told us that fresh air is great for him and being outdoors helps him as well.”

Caleb’s advice

“Although my journey with MPS has been a difficult one, I have learned to meet each day with courage and gladness and make the most of the opportunities I do have,” Caleb says. “To those who have just begun their battle with MPS, I would say to have courage, never give up and continue to press on. To those who have been battling MPS or another disease for a long time, I would remind them that you cannot do this alone. You need people around you like your family, friends, nurses, doctors and even your faith to give you courage and comfort. I have been on my journey for 11 years now and it is not easy. The journey has taken lots of courage, endurance and patience. For me personally, my faith has equipped me with courage and given me much comfort and hope, knowing that God has a plan for my life.”

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Superhero Austin fights cancer

When you arrive to the hematology and oncology unit at CHOC Hospital, theres someone you wont miss  and if you do, hell make sure you notice him. 

Three-year-old Austin, a CHOC patient, is a bundle of energy and can often be found running around in a costume, jamming out to his favorite music or yelling out, Hi! to everyone who passes his hospital room. He is your typical toddler, except for one thing — he has cancer. 

Austin at CHOC Children's
Austin at CHOC

 Austin was diagnosed earlier this year with acute myeloid leukemia (AML) with FLT3-ITD and NPM1 mutations. Before his diagnosis, Austin had constant and unexplained fevers, bone pain, loss of appetite and extreme fatigue. His pediatrician, Dr. John Carruth, ordered a blood test that showed an alarmingly high white blood cell count. 

Austins parents, Kristen and John, were told by Dr. Carruth to bring Austin immediately to CHOC. 

It felt like a surreal nightmare walking onto the fifth floor at CHOC and seeing the words cancer unit,’” says KristenIt was the most afraid Ive ever been in my life.” 

Due to Austins cancer mutations, his parents were told he may need a bone marrow transplant. This kind of transplant can often be a cure for certain oncology diagnoses, but the process is not easy  especially for a young child. Thankfully, his oncologist Dr. Jamie Frediani is committed to staying up-to-date with the latest research and new studies within pediatric oncology, and she knew that children with similar mutations to Austin’s can do much better without having to undergo a transplant. 

Knowledge is constantly evolving, and with it our treatment strategy  giving patients like Austin an improved prognosis, says Dr. Frediani. 

Austins care plan moved forward with five rounds of chemotherapy, but that was just one part of the battle. A few weeks after Austin was admitted, California enacted stay at home orders due to COVID-19 and CHOCs visitor guidelines were revised in the interest of curbing the spread of the pandemic.

During the past few months, there were moments that were especially hard for Austin – but he was never fighting alone. Although he experienced nausea, an allergic reaction, a fungal infection in his lungs, high fevers, painful mouth sores and overall body pain, Austin and his parents had an entire team fighting alongside them.  

The staff, doctors, nurses, child life specialists, music therapists and all our other cancer-fighting friends on our floor have been so loving and friendly,” says Kristen. You never want to hear your child has cancer, but if it means you get to meet wonderful and inspiring people along the way, then this entire experience is made a little easier and a lot less painful.” 

Austin at CHOC Children’s
Austin at CHOC

As much as CHOCs staff has made an imprint on Austins heart, he has done the same for them in return. While attached to his IV pole, Austin sprints through the halls daily introducing his bright personality to those around him, bravely shows off his superhero-fighting moves to all the nurses and has chosen to be happy every day for the 163 days he has been at CHOC. 

Under the care of Dr. Frediani and the oncology team, Austins chemotherapy treatment has gone well, and he was recently able to return homeGoing forward, hell have regular follow-up appointments with his care team. Austin and his parents are excited for him to start pre-school, take a karate class, play on a baseball team and continue to lift people up wherever he goes. 

As much as were excited to move on with our lives, I hope Austin remembers this experience,” says Kristen. I hope he remembers the hard things he did, the fears he overcame, the people he met. I hope he remembers just how brave he was and how much braver he will be because of this. 

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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.”

Learn more about deep brain stimulation at CHOC 

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