Pharmacy delivery service brings medications and peace of mind to CHOC families

Jenna Castorena couldn’t believe her ears when she picked up a call in March from the Outpatient Pharmacy at CHOC Children’s Hospital. She was juggling a lot at the time, most importantly protecting her medically fragile son Robert from contracting COVID-19.

Robert, who has epilepsy, cerebral palsy, chronic lung disease and several gastrointestinal issues, depends on multiple medications. He needs them to control seizures, manage stomach troubles and prevent pneumonia. He was due for refills when his mom heard from the CHOC Pharmacy.

Robert-CHOC-patient-pharmacy-delivery
Robert

“It was amazing! The pharmacy called to let me know they would personally deliver Robert’s medications to our home so we wouldn’t need to venture out in the pandemic,” recalls Jenna. “I can’t imagine how much work went into creating this personalized service, but I am incredibly grateful to the team for always making the safety and wellness of patients a priority.”

CHOC launched the prescription delivery service at the start of the pandemic in California, as lockdown orders were taking place across the state. The temporary service was intended for all CHOC Outpatient Pharmacy patients, particularly for those with severely compromised immune systems. Some of the patients rely on public transportation, placing them at increased risk when out in public.

Since the service began in March, the Outpatient Pharmacy has logged more than 10,700 miles and delivered more than 3,400 prescriptions. A quarter of the medications are difficult to obtain in the community.

“Our goal is to ensure our patients receive their medications in a timely manner and without unnecessary risk during the pandemic. We want to keep them safe and healthy, and provide additional peace of mind to their families,” explains Grace Magedman, PharmD, executive director, pharmacy services, CHOC Children’s.

Long-time CHOC supporter Hyundai Motor America heard about the delivery service and was quick to lend support. The company was already in the process of donating $200,000 to CHOC’s COVID-19 Relief Fund. Their generosity inspired local dealer, Russell Westbrook Hyundai of Anaheim, to donate three Hyundai Santa Fe vehicles for use in delivering the medications.

“During these challenging times, it’s heartwarming to see the community come together, and we would expect nothing less from our friends at Hyundai,” says Magedman. “Our prescription delivery service has been a valued resource for so many families who must take extraordinary efforts to protect their children, and it couldn’t have been possible without the inspiring commitment of our heroes in Pharmacy and collaborating departments. We are grateful for the role we play in safeguarding the health and well-being of the community we serve, especially its most medically fragile members.”

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What I’ve learned about life from my 3-year-old daughter

By Bud, father of Emma, a CHOC Children’s patient; and founder of the Squires Guild, a group part of CHOC Children’s Foundation that connects patient parents with each other while raising awareness and funds for CHOC Children’s Hospital and CHOC Children’s at Mission Hospital

My daughter Emma, who is 3 years, 4 months and 8 days old, has a list of diagnoses that read like a medical textbook — I’m sure parents of CHOC Children’s can relate — but, her main diagnosis is pachygyria. It’s a congenital malformation of the cerebral hemisphere that results in unusually thick convolutions of the cerebral cortex, giving her brain a smooth appearance and giving my wife and I an excuse to call her a “smooth operator.” We also call her “the Kartoffel” which means potato in German because she looked like a potato when she was little. The name stuck!

Since her condition deals with the brain and is so severe, all of her other body systems are affected. She isn’t ever expected to roll, sit, walk or talk. She struggles with multiple forms of epilepsy and is expected to develop more forms. She also has poor swallow control, which could cause her to aspirate on foods or liquids.

We found out about Emma’s condition when she was 7 months old. She had missed a few developmental milestones and then started having infantile spasms. We are thankful that our pediatrician, Dr. Dawn Bruner, is part of CHOC Children’s Primary Care Network. She referred us to, CHOC’s Neuroscience Institute where we ultimately received Emma’s diagnosis.

bud-and-emma-outdoors
Bud with his daughter Emma.

With all the medical support we had (and still have), it was hard to take in the news of Emma’s diagnoses. Even after three years, it has been a continual process of mourning the loss of the life we thought we were going to have as well as a tremendous exercise in learning to love someone for who they are, and not who we want them to be.

There have been more medical emergencies with Emma than I can count, and often during those times, I feel inefficient, broken. Dads are supposed to protect their children, make it all better and make sure nothing hurts them. But caring for Emma has made me learn that I am just a different kind of dad than what I originally thought I was going to be. I am still strong and effective, and most importantly I have allowed myself to be totally me, just like Emma is totally her.

Emma is fearless. Anything she does, whether it’s laughing, crying, yelling or singing, she does with full conviction. She is the kind of person I hope to be like a little more each day. She is my absolute joy, the light of my life. I am but a humble peasant to my Princess Emma and I don’t mind at all.

bud-and-emma-at-home
Bud and Emma at home.

It is because of Emma that I am inspired to learn new music, read new books—all based on whether I think she would enjoy them. She has taught me that the more time and energy I put into pushing back against and denying the brutally honest reality that she will not live long or peacefully, the less time and energy I have to truly experience life with her. And as her dad, that’s my biggest joy in life — really living with Emma.

My greatest hope is that she knows that she is loved. I hope she finds her life, however long or short it might be and in whatever way she can, to be rich and meaningful — just like she’s made my life rich and meaningful simply by existing.

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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.

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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.

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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.

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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.

Learn more about CHOC Children's at Mission Hospital

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