Searching for hope while living with a rare disease

Rocio Macias was driving when her 4-year-old daughter, Isabella, coughed from the backseat.

“Are you OK?” Rocio asked.

“I’m OK,” Isabella answered with a giggle.

While likely mundane for many parents, this exchange is the stuff dreams are made of for Rocio, the mother of a child with a devastating rare disease.

“She’s doing well – she’s trying to talk a lot more,” Rocio says. “I see things physically too – she doesn’t fall as much as she used to. She doesn’t bang her head much anymore.”

Isabella is in the early stages of a clinical trial at CHOC Children’s that will evaluate a drug intended to treat a rare pediatric disease called MPS IIIA. The condition is a type of Mucopolysaccharidosis, or MPS, a genetic condition that causes physical abnormalities in young children and causes them to lose their neurological development.

Also called Sanfilippo syndrome, its early symptoms can mirror those of autism. Unlike autism, though, the patients don’t improve. Instead, they gradually deteriorate until memories and even basic abilities are lost. Most Sanfilippo patients don’t survive to adulthood.

“You ask, ‘What is that? What can I do? What can be done?’ For this one, there’s no cure. And you just cry,” Rocio says.

But Rocio found a glimmer of hope in the trial, Dr. Cristel Chapel-Crespo, Isabella’s CHOC metabolic specialist at CHOC, and Dr. Raymond Wang, also a CHOC metabolic specialist who is the director of CHOC’s Foundation of Caring Lysosomal Storage Disorder Program.

Joining the clinical trial

Phases II and III of the trial are being conducted by Lysogene, the French company that developed the experimental treatment. CHOC is one of four U.S. hospitals taking part, with several other sites in Europe.

Those patients are hard to find. In his decade of researching MPS and seeing patients, Dr. Wang estimates he’s only diagnosed 10 cases. However, given the deep heartbreak that Sanfilippo syndrome can cause with parents of affected children, Dr. Wang sought out Lysogene as a partner to provide families with access to clinical trials – and hope.

Lysogene, in turn, sought out Dr. Wang for the trial because of his expertise in researching and diagnosing the various MPS types. If the Lysogene drug is eventually approved by the U.S. Food & Drug Administration, CHOC should become the first facility on the West Coast to be able to both diagnose the disease and administer the drug, which is surgically inserted into brain tissue.

For Isabella, participating in the study meant traveling to New York, where she received the medication in June 2019.

Following a seven-hour surgery, Isabella spent a night in the hospital’s intensive care unit. The family stayed in New York for another week of tests, and then returned home.

After one more check-up in New York, the family began follow-up treatment in December much closer to home at CHOC with Drs. Chapel-Crespo and Wang, and will continue to do so every three months for five years.

“She has no after-effects at all from the surgery, is happy and doing well,” Dr. Wang says, adding that Isabella will continue to take anti-rejection medication throughout the first year of the study.

“We are hoping to prevent regression at the least, and ideally see developmental progression,” he says.

The effects of Sanfilippo

MPS IIIA, or Sanfilippo, is a subtype of MPS that affects about one in every 100,000 children. Overall, seven different types of MPS have identified: I, II, III, IV, VI, VII and IX, not counting the subtypes within them.

MPS is an inherited disease. All the types are collectively known as “lysosomal storage diseases.” Lysosomes are compartments in cells that break down molecules and remove waste products.

Normally, different enzymes in the lysosomes break down complex sugars called glycosaminoglycans, also known as mucopolysaccharides. In MPS, glycosaminoglycans are not broken down because of a deficiency in one of those lysosomal enzymes. As a result, the glycosaminoglycans accumulate in the cells and cause tissue damage.

Physical symptoms can include thickening of the lips and skin, enlarged liver and spleen, hernias, recurring ear infections, joint pain and stiffness, and shortness of stature. With Sanfilippo, which attacks brain cells, cognitive impairment could include delayed speech. Since by itself a speech delay isn’t uncommon in children, Sanfilippo’s initial symptoms only add to the confusion for families.

In the first two to three years of a patient’s life, “there might not be any symptoms,” Dr. Wang says. “Nobody ever thinks ‘My kid has Sanfilippo,’ and few doctors think about it. But it starts to be around age 3, 4, 5, when hyperactivity starts, and there are questions of autism, and usually what happens is a physician recognizes that kids with Sanfilippo look a little different.”

A mother’s instinct

Rocio began noticing some symptoms in Isabella when the toddler was about 2. Rocio thought she could explain Isabella’s unsteady walk and slow speech, but that her daughter wouldn’t outstretch her arms to catch herself when she stumbled was especially alarming.

“As a parent, you start looking around at the other kids in the class and think, ‘Is there where the other kids are too?’” Rocio said. “I never looked at it like something was wrong – I just thought she was delayed.”

As Rocio pursued speech and physical therapy for Isabella, CHOC otolaryngologist Dr. Kevin Huoh was separately evaluating Isabella for her snoring. After observing some of Isabella’s physical features, Dr. Huoh quickly referred the family to CHOC’s genetics team. Subsequent genetic testing revealed her condition.

Learning the diagnosis was devastating for Rocio. After taking the call in an empty office at work and bursting into tears, she needed to leave early for the day, she recalls. With her husband in an all-day training, Rocio was forced to deliver the news by text message.

The medication’s hope

The news was made especially frightening when the couple learned there was no treatment for Sanfilippo.

While enzyme-replacement therapy has successfully treated some types of MPS, it only works if the disease is not located in the brain. Unfortunately, the life-threatening symptoms of Sanfilippo are caused by effects of the disease in the nervous system.

Inside the brains of children with Sanfilippo syndrome, a waste product called heparan sulfate builds up, causing nerve damage and, over time, the death of nerve cells.

The Lysogene drug includes a package called a “vector.” It contains genetic instructions that enable treated nerve cells to make the missing enzyme, called sulfo-hydrolase, which clears out the waste product.

“Short-term, you can measure things like, is the body producing sulfo-hydrolase enzyme; is there a reduction in heparan sulfate?” Dr. Wang says. “But the more relevant question is, is the investigational treatment actually helping these children? What parents really care about is, Is it helping my child’s neurologic function? Is my child not regressing? Is my child progressing normally? If there were lost developmental milestones, is my child maybe even gaining them back?”

Moving forward

While Rocio has already anecdotally noticed some improvements in Isabella, time will tell whether the drug is truly effective. In the meantime, the family has found additional support through the rare disease community. They attended a local event for families impacted by MPS. Isabella was the only child with MPS IIIA.

They’ve also found some solace online, though Rocio participates only in measured doses.

“It’s hard. Sometimes I tell my husband I don’t want to follow the groups anymore,” she says. “People post when someone passes away – and it seems like that happens every day. The other day it was an 8-year-old, and you think, ’Shoot, Isabella is 4,’ and that’s heartbreaking. But then someone posts about a 27-year-old and that gives me hope.”

Rocio also continues to take her family’s journey one day at time – after all, she’s adjusting a new reality of parenting a medically complex 4-year-old as well as a 2-year-old daughter, who is not a carrier for Sanfilippo.

“I went from having a life to having a totally different life,” she says.

Learn more about research at CHOC

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Quinn goes home, thanks to CHOC’s cardiac high-risk interstage program

Like most parents, when Erin and Ryan were pregnant with their first child, it was an exciting and precious time. However, for them, they knew this would be a high-risk process since Erin has Type 1 diabetes.

Erin was seen regularly at University of California, Irvine (UCI) Medical Center for checkups on her and the baby because of her T1D. At week 20, Erin went in for an anatomy scan of the baby. This is when the baby is examined via ultrasound to make sure everything is growing and developing as it should. During an anatomy scan, clinicians also pay close attention to the baby’s heart.

Doctors noticed a few issues with the baby’s heart.  Erin and Ryan were referred to Dr. Nafiz Kiciman, a pediatric cardiologist at CHOC who specializes in critically ill newborns. Dr. Kiciman was able to confirm the unborn baby’s diagnosis: Tetralogy of Fallot (TOF) with pulmonary atresia (PA).

“I was very emotional hearing that my sweet little baby girl had been diagnosed with a major heart condition and would need multiple surgeries throughout her life,” says Erin. “I cried many tears thinking about a small baby going through so much.”

TOF is a congenital heart defect made up of four abnormalities. Since Quinn has a severe form that includes pulmonary atresia, she has five abnormalities. These include:

  • a hole in the wall that separates the lower right and left heart chambers
  • her aorta had been moved to the right
  • abnormal pulmonary arteries
  • a thickened right ventricle, and
  • no pulmonary valve to connect the right ventricle to the lungs.

Currently, the only treatment is open-heart surgery.

“Knowing surgery was going to be in the future was not easy, but I was also the only one who could feel her movements, and I knew she was strong,” says Erin.

Quinn’s journey in a brand-new world

Quinn was born on April 11, 2019 at UCI Medical Center, weighing 4 pounds and 4 ounces. Doctors determined she needed a higher level of care due to her heart condition, so when Quinn was four days old, she was transferred to CHOC Children’s Hospital’s neonatal intensive care unit (NICU).

“We had so many emotions as we left UCI without our baby and headed to CHOC,” Erin says. “We were thankful that Dr. Kiciman would be one of the many cardiologists that would be caring for Quinn. We met the NICU nurses and doctors, which made us feel even more comfortable.”

While in the NICU, Quinn’s job was to grow big enough to undergo her first heart surgery. As for Erin and Ryan, they were navigating learning how to be first time parents, with the added complexity of doing so for a child in critical care.

“We relied on the nurses and doctors to help us navigate through the first few weeks,” Erin says. “We had to learn how to change her diaper while she had various cords attached to her and hold her while she was connected to oxygen machines. We were thrown into parenthood really fast.”

Quinn gained 1 pound and 10 ounces in a month but she still wasn’t ready or big enough for a full heart repair. However, something needed be done to help the blood flow to her lungs. Dr. Richard Gates, director of cardiothoracic surgery at CHOC, performed a shunt operation to place a small tube between a body artery and the pulmonary artery.

quinn-half-birthday
Quinn celebrated her half birthday at CHOC.

After surgery, Quinn was moved to the cardiovascular intensive care unit (CVICU) at CHOC for six weeks. In the CVICU, she worked on breathing on her own and feeding with the help of her care team and a speech language pathologist (SLP).

SLPs work across CHOC’s healthcare system with a variety of patients. In Quinn’s case, they taught her skills and exercises to help her explore the movement and muscles of their mouths.

In the time Quinn worked with her SLP, she quickly developed good sucking skills, while still working on refining her swallowing skills. While she perfected these skills, Quinn’s medical team decided she would benefit from a gastrostomy tube, — or G-tube— a feeding tube placed through her abdomen so she could receive nutrition directly to her stomach.

The interstage

After 77 days at CHOC, Quinn finally got to go home through the cardiac high-risk interstage program.

This new home-monitoring program at CHOC was designed for babies with complex congenital heart disease. Families go home with a scale and pulse oximeter to record heartrate, pulse, weight and feeding. That information is then reported regularly to the child’s care team. The goal of this program is to provide families with an easy and reliable connection to their care team during the “interstage period”— the time between a baby’s first and second surgery.

“The interstage period is a critical time during which babies with certain heart conditions, like Quinn, are very fragile,” says Elizabeth Miller, a nurse practitioner dedicated to the interstage program. “Monitoring and evaluating the baby’s information on a regular basis has been proven to help early recognition of a possible serious problem and save lives.”

Future plans for the program include sending families home with iPads and a unique app that will allow families to record data, capture video and photos, and send message to care team members.

With the program, Quinn was also scheduled for biweekly visits to her cardiologists and a standard cardiac catheterization to evaluate her heart and plan for her future heart repair. During this procedure, Quinn’s heart team discovered a narrowing in a valve that needed emergent care.

The next morning, Quinn underwent surgery with Dr. Gates.  This complete heart repair would close the hole in her heart and widen her pulmonary arteries.

Road to recovery

Quinn’s recovery was tough and long. Her lungs were fragile, and she also developed necrotizing enterocolitis a serious intestinal disease common among premature babies.

Since Quinn was fragile during her recovery, Erin and Ryan were unable to hold her for the first month after surgery.

quinn-mom-after-surgery
Erin holding Quinn for the first time after surgery.

Though this time, Quinn’s family found comfort in being back at a place they already knew.

“We felt so comfortable going back to our ‘home’ in the CVICU,” Erin says. “The nurses, doctors and staff remembered our family and Quinn. During our time, Quinn showed that they will never forget her and got the nickname PQ, short for Princess Quinn.”

For the next seven weeks, Quinn made “baby toes in the right direction” — a saying from Erin on Quinn’s small but mighty progress, and a nod to her tiny feet. She developed a strong and feisty personality, and she wanted to do things in her own way and on her own terms. It was because of this that Erin and Ryan knew Quinn could get through anything.

Quinn today

Quinn is now at home and Erin and Ryan are soaking in the time they get to spend learning about their baby girl in a home setting. They have also seen her develop a love for watching sports—especially hockey, baseball and football.

quinn-holiday-home
Quinn celebrating the Fourth of July at home

Quinn is regularly followed by a variety of specialties at CHOC including cardiology, gastroenterology, pulmonology and hematology at CHOC. She will also need minor procedures, and another open-heart surgery when she’s older to replace the valve.

“Her journey is not over yet, but we’re equipped to handle what comes next for her medically,” Elizabeth says. “Quinn’s whole team here at CHOC has loved seeing her grow into the baby she was always meant to be.”

Learn more about the Heart Institute at CHOC Children's

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How a car accident changed my life

My journey with CHOC started on Dec. 18, 2016, when my dad and I were hit by a car. The weeks following the accident were terrifying, and my 18-month rehabilitation process afterward was physically and mentally challenging. Now, I’m doing incredibly well and so is my dad.

My dad and I were in a movie theater parking lot in South Orange County. We’d just seen the latest Star Wars movie. We were standing next to our car when a driver careened off a nearby road at 100 miles per hour and hit us. I was immediately knocked unconscious and flew into a nearby body of water. I was completely submerged and almost drowned. I suffered a traumatic brain injury, broken shoulder and multiple facial fractures. My dad and I were not initially expected to survive. I was rushed to CHOC Children’s at Mission Hospital. I underwent multiple tests, scans and procedures, including one to drain leaking cerebral spinal fluid.

I don’t remember much of my time at CHOC Mission – I was comatose for most of my first week there. I finally woke up on Christmas Eve, and over the next 10 days I made significant progress – sitting up and even taking a few steps.

Jacob Werkmeister_after accident
Jacob after the car accident.

During this time, my dad was recovering at Mission Hospital. Thanks to the partnership between CHOC Mission and Mission Hospital, my mom was able to go back and forth between my room and my dad’s room without even having to leave the building.

CHOC doctors and nurses exemplify kindness and caring. One of the kindest things they did for us was allow my dad and I to see each other. Once we were both awake and extubated, they brought my dad up to my room. The simple act of allowing a father and son to see each other and hold each other’s hand was instrumental in our healing process.

Jeff and Jacob Werkmeister hold hands for first time since accident 12.21.16
Jacob and his dad hold hands for the first time after the accident.

Dr. Gary Goodman, medical director of the pediatric intensive care unit at CHOC Mission, was incredible. He kept my parents well-informed about my care and progress. Every single nurse who treated me went out of their way to also ensure that my mom felt cared for. She was included in every conversation about his care.

My mom has been a nurse for 25 years. She works with the American Hospital Association and helps hospitals implement strategies to improve outcomes for patients and make care as safe as possible. Because of her clinical eye, she noticed everything that happened with every shift. Even during the holidays or shift changes, she always said my care at CHOC Mission was impeccable. This shows the entire team’s commitment to excellence.

Despite being incredibly complicated trauma patients, with high-alert medications and surgeries, neither my dad nor I experienced any adverse events during our hospitalizations. We both received perfect care.

My dad and I went home after around two weeks. Next, I started 18 months of rehabilitation through CHOC. I worked with an occupational therapist and a physical therapist. I had to relearn how to walk, hold a pencil, do math, read and remember things.

I also worked with Dr. Sharief Taraman, medical director of neurology at CHOC, and Dr. Jonathan Romain, a CHOC neuropsychologist, as part of CHOC’s concussion program. Even though I wanted to speed up my recovery so I could try and get back to playing baseball, Dr. Taraman and Dr. Romain made sure I was safe.

Before the accident, I was a lifelong baseball player. After the accident, no one imagined I would play baseball again. Not only did I return to baseball a few months after the accident, but I recently signed a letter of intent to play baseball for Ohio Christian University.

Jacob Jacob Werkmeister_today
Jacob today, back to baseball.

This journey has taught me so much. I really shouldn’t be alive right now. Now, I don’t let the small things get to me. I know I can get through anything.

Our family could never repay our gratitude to CHOC. We are so thankful for everything CHOC has done for us.

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The benefits of music therapy: Antonio’s story

A typically happy and energetic Antonio began to feel isolated during an extended hospitalization. His music therapist Rebekah helped him feel more social, while providing “normalized” experiences for Antonio and his family.

At CHOC, music therapy is just one of the specialized therapeutic programs offered through the Cherese Mari Laulhere Child Life Department.

When Antonio was a baby, he was diagnosed with an immune system disorder called chronic granulomatous disease (CGD), which meant his white blood cells couldn’t properly fight bacteria and infections. He got sick more than other kids and took twice-daily medications, plus injections three times per week. Antonio was 9 years old when doctors determined he was a good candidate for a bone marrow transplant, so that his body could learn to make infection-fighting blood cells. His infant brother was a perfect match and served as his donor.

After a bone marrow transplant, the immune system is very weak, and patients are typically kept in isolation with limited visitors and other precautions in place in order to protect their fragile health. Antonio spent about six weeks in isolation.

At first, he was skeptical of music therapy, but he came around quickly.

“When I first went to Antonio’s room, he was playing video games in bed. He didn’t look at me or respond to me, so I told him I would simply tell his mom who I was and what music therapy was about, and he could listen if he wanted to,” Rebekah said. “By the time I sang the second line of his favorite song, he transitioned from lying in bed to sitting up, smiling and singing along with me. His mom played along with an avocado shaker, his infant siblings were both shaking maracas. The feel of the room had been transformed”

Since hospitalizations also impact siblings and parents deeply, Rebekah strives to include families in music therapy sessions whenever she can. After their initial session, Antonio was eager to engage in any musical experience that Rebekah suggested.

“In the middle of a long hospitalizations, there would be days Antonio was in a funk and the only thing he wanted to do was play video games,” his mom Maria said. “But when Rebekah came to his room, he would immediately turn off his video games, smile, happily get out of bed, and interact with her.”

At first glance, music therapy might look like simply singing or playing instruments, but the evidence-based work of a board-certified music therapist supports a patient’s clinical goals. In the medical setting these goals may range from promoting symptom management, like pain or nausea; increasing emotional expression related to diagnosis and hospitalization; or normalizing the hospital environment and promoting typical developmental milestones.

Antonio and Rebekah have a jam session in Seacrest Studios.

Some of Antonio’s goals for music therapy included decreasing isolation, increasing engagement in preferred activities, and managing stress and anxiety. Children who remain engaged with their environment typically respond to stress in a more positive way. By creating songs about Antonio’s favorite foods and hobbies, he can focus on the healthy aspects of himself—a reminder that he is more than his diagnosis, treatment or hospitalization. These goals were established to counteract the potential negative impacts that a prolonged isolation and hospitalization can bring.

Sessions were filled with creativity, laughter and smiles – from Antonio, his siblings and his mom. Some days, he and Rebekah wrote songs about Antonio’s favorite things.  Other days they wrote about his mom or favorite nurses. During music therapy, Antonio also frequently created original music through playing ukulele, drums and guitar. Since young patients often don’t get to make many decisions, they worked in opportunities for Antonio to feel autonomous and “direct” the other band members (his siblings and mom).

“Music therapy cheered up my son while he was in isolation,” Maria said. “It makes me happy that CHOC has things like this for kids when they can’t leave their rooms.”

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My son’s journey with congenital pulmonary airway malformation (CPAM)

By Monica Cruz, mother of CHOC Children’s patient Tavik

When my fiancé Ryan and I found out we were having another baby, we were excited but also a little overwhelmed. Our firstborn son Raiden was barely a year old and very strong willed. We weren’t quite ready for another, but we knew we could manage.  We had no idea the journey that lay ahead of us and our new baby, but today we are so grateful that he’s healthy and happy.

Tavik_after_CPAM_surgery
I am so grateful that my son is happy and healthy, after surgery to remove his CPAM.

During an ultrasound when I was 26 weeks, my OB/GYN found a mass on the baby’s lung. They said it was likely congenital pulmonary airway malformation (CPAM). CPAM is a mass or lesions of abnormal lung tissue that forms during pregnancy. The mass or lesions can vary in size. It is usually only in one lung and does not function as normal tissue. We did two more ultrasounds to confirm the diagnosis, and then we were referred to a maternal-fetal medicine specialist (MFM).

Our MFM confirmed that our baby, who we named Tavik, had CPAM.  The cause of this condition is unknown and only 1 out of 25,000 pregnancies are affected. Research shows that this abnormality is not related to anything the mother did or didn’t do during pregnancy. Some think it may be caused by genetics, but there isn’t enough research to confirm this. CPAM was previously referred to as congenital cystic adenomatoid malformation (CCAM).

There was still a lot of time left in my pregnancy, so Tavik’s lungs had more time to grow—but so did the mass. On the ultrasounds, we could see that his heart had been pushed off to the right side. This was a lot to take in and made the next few months extremely stressful.

Babies in the womb who have CPAM are also at risk for hydrops fetalis, or hydrops. When a fetal lung mass pushes on the heart and blood vessels, the heart has trouble pumping blood. If the heart can’t keep up with the baby’s needs, fluid builds up around the lungs and in the belly, a condition called hydrops fetalis. After the baby is born, the fetal lung mass can cause problems because it can get infected (pneumonia) or take up room so that the healthy lung lobes can’t fill with air. I had ultrasounds every two weeks until Tavik’s due date.

Prenatal counseling

We knew Tavik would need care after he was born, so our MFM referred us to Dr. Peter Yu, a pediatric general and thoracic surgeon at CHOC who has special training and expertise in fetal conditions.

My fiancé and I went to CHOC and met Dr. Yu, who explained everything that was going on with the baby in utero, and what would happen after he was born.

The good news was that most babies with CPAM are born with no symptoms and can go home after a few days in the hospital. Surgery to remove the mass on the lung usually comes a few months later, when the babies are bigger, and better able to handle anesthesia. If CPAMs are not removed, they can cause breathing problems or serious lung infections, and sometimes they can even become cancerous later in life.

Dr. Yu was honest with us and educated us that there are some babies who do have complications at birth due to the CPAM and can need immediate surgery after delivery. Not knowing what that outcome would be was one of the hardest things I’ve ever had to process.

Dr. Yu was so knowledgeable and made us feel more at ease about our baby’s diagnosis. We knew that Tavik was in great hands.

Tavik’s birth

Tavik was born on Nov. 15, 2018 weighing 7 lbs., 10 oz. and 21 inches long. We were so lucky and beyond happy that he came out without any complications, and that he didn’t need immediate surgery. Unfortunately, later that night when the doctors came back to check in on us, they noticed he was working extra hard to breathe. They weren’t sure if this was related to his CPAM. He was admitted to the neonatal intensive care unit (NICU) at the delivery hospital and was given oxygen and put on CPAP (continuous positive airway pressure). CPAP delivers constant air pressure into a baby’s nose to help the air sacs in the lung stay open and prevent sleep apnea.

During our NICU stay, doctors performed a chest X-ray and ultrasound to get a better picture of the mass in his lung. They noticed he also had an abnormal blood vessel carrying blood to the lung mass.

Tavik spent eight days in the NICU before he was healthy enough to go home. The doctors determined that his breathing troubles at birth were not caused by the CPAM. He just had some residual fluid from the C-cection.

Two weeks later, we had an appointment with Dr. Yu so he could meet Tavik and we could make surgery plans. A few weeks after that, Tavik had a CT-scan so Dr. Yu could see exactly what was going on inside Tavik’s lung. That gave Dr. Yu a more precise roadmap for surgery.

Surgery day

When Tavik was three months old, he underwent surgery at CHOC Children’s Hospital. It was scary to hand over my baby for surgery, but looking back now, everything seemed to go so smoothly and quickly.

family before cpam surgery
Ryan and I with Tavik before surgery to remove his CPAM.

During the three-hour surgery, Dr. Yu removed the affected part of Tavik’s lung and repaired the blood vessel. While surgery was in progress, a member of Dr. Yu’s team came out to the waiting room every 30 minutes to provide an update to Ryan and me.

When surgery was over, Dr. Yu came out to let us know that he had removed half of Tavik’s left lung, sealed off the artery, and everything had gone smoothly. He showed us photos of what he had been looking at through his scope during surgery.  He did this to also give us a better understanding of what had been going on inside of our son. It was really neat to see.

Dr. Yu performed the surgery thoracoscopically, using minimally invasive instruments. Only three very small incisions had to be made in Tavik’s abdomen to remove the entire mass. Tavik only has three tiny incisions on his left side. It’s mind-blowing to think that you can safely remove half a baby’s lung through three tiny incisions. Since Tavik had this surgery as a baby, the remaining portion of his lung will be able to grow and compensate for what was removed as he grows.

Tavik_minimal scarring_cpam
Dr. Yu performed the surgery thoracoscopically, using a microscope and two tools. That means only three very small incisions had to be made to remove the entire mass.

Tavik spent only three nights in the hospital. The first two days after surgery were hard for Tavik; he was groggy from the anesthesia, and he made some sad sounds, which was a little heartbreaking for us to hear as parents. Thanks to the awesome rooms at CHOC I was able to stay with Tavik the entire time, both day and night. During this time, I stayed with Tavik, while Ryan and Raiden stayed close to CHOC at the Ronald McDonald House. We had stayed there during our unexpected NICU stay, and they invited us back during Tavik’s surgical stay. Without them, our family wouldn’t have been able to stay together and so close to Tavik.

By the third day after surgery, Tavik was alert, smiling and getting right back to his happy self. It’s seriously amazing how fast babies heal! I was a little nervous getting ready to leave on the fourth day. The doctors constantly reassured me by telling me that he was healing wonderfully and that he was in great shape to head home. They were right. By the next day, Tavik was doing even better—he had no pain or discomfort and his incisions were already fading. You would have never known that he just had a major surgery.

A few weeks later, we had a follow-up appointment with Dr. Yu, who confirmed everything still looked great and Tavik was now CPAM-free.

tavik-dr-yu-cpam-surgery
Tavik with his surgeon, Dr. Peter Yu.

Tavik today

Although Tavik underwent a major surgery as a baby, looking at him now, you’d never know what he had been through. You can barely see his scars, and he’s growing like any little boy should—he’s in the 80th percentile for height and weight. His prognosis is great, and we look forward to a normal life with him.

tavik-birthday-cake
Tavik enjoying cake at his first birthday party.

My son is such a sweet, loving, happy boy with a little bit of spice to his personality. He absolutely loves music and always wants to play in the water. He has so much fun going on walks with his older siblings Leila and Raiden.

Tavik is our little miracle baby! He has kept us on our toes since before he was born and continues to do so today. He’s always making us laugh and smile.

We are so blessed and are so grateful that he is healthy.

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