Living with polymicrogyria: Angelina’s story

Johanna and her husband Graham were expecting a healthy baby.  Already parents to one little girl, they were looking forward to expanding their family.

At Johanna’s 33-week anatomy scan, she and Graham were thrilled to learn they were expecting a girl, but shocked to learn she might have club foot, a birth defect where the foot is twisted out of shape or position. They learned there was a chance it could be due to a neurological defect since everything else was showing up as normal.

“We started mentally preparing ourselves for our baby to have a club foot,” Johanna said. “We had another anatomy scan, but they couldn’t say for certain what was going on.”

On January 26, 2018 Johanna delivered a baby girl named Angelina via c-section. A neonatologist was in the delivery room in case Angelina needed immediate medical attention after birth. She was having trouble swallowing and was monitored in that hospital’s neonatal intensive care unit (NICU).

Three days later, a CHOC neonatologist rounding at the delivery hospital recognized that Angelina needed a higher level of care and a bigger team of specialists. He suggested that she might need an MRI to give doctors a better look at her brain, and determine if her condition was neurological.

“Even though I’d never been to there, I knew that when it was an option to go to CHOC, you go to CHOC,” Johanna said.

Their older daughter Genevieve had been born at St. Joseph Hospital in Orange, next door to CHOC Children’s Hospital.

“I was so freaked out before I had my first child, because of all the things that can go wrong during childbirth. I delivered Genevieve at St. Joseph because I liked knowing that CHOC as right next door if we needed them” Johanna said. “When they gave us the option to send Angelina to CHOC, there was no question—we just immediately went.”

angelina-baby-choc-childrens-nicu
Angelina during her stay in CHOC Children’s NICU.

Angelina was admitted to CHOC’s NICU and evaluated by neonatologist Dr. John Tran, of CHOC’s neurocritical NICU. Special rooms of CHOC’s NICU are designated for the neurocritical NICU, where neonatologists and neurologists have the expertise and equipment to carefully treat babies with neurological issues.

An MRI showed that Angelina had polymicrogyria, a condition characterized by abnormal brain development. Johanna and Graham had never heard of this condition and had a hard time processing the diagnosis. Then they met with Dr. Donald Phillips, a pediatric neurologist at CHOC.

He explained to the family that typically, the surface of the brain has many ridges and folds, called gyri. In babies born with polymicrogyria, their brain surface has too many folds that are too small to process information received, which leads to problems with body functioning, similar to the effect a stroke can have on the brain.

Dr. Tran explained the spectrum of care for polymicrogyria. Some patients are nonverbal, some go to school, and some even live with this condition and never know. It was too soon to tell where on that spectrum Angelina would fall.

“Caring for babies with neurological conditions can be difficult. Not only are you medically treating a newborn baby, but you are also counseling a family and giving them an uncertain prognosis,” says Dr. Tran. “In the neurocritical NICU, our first goal it to treat the baby’s underlying condition. The second goal is to educate the most important members of our care team― the parents. We know that the NICU is not a part of the birth plan, but our job is to help alleviate some of the anxiety that comes with uncertainty. We strive to optimize the potential of our patients, whatever it might be, as they go home.”

The diagnosis was a lot for her parents to take in.

“We knew we were getting the best care for our daughter, but it was such heavy news,” Johanna said. “Even with a typical kid, we don’t really know what their life will be like. Every life is a gift. Once I started going towards that mentality, I realized that nothing is certain, even with typical kids.”

At her delivery hospital, one of the red flags that Angelina needed a higher level of care was that she kept crashing when she was breastfeeding.

“It made me freaked out to feed my daughter,” Johanna said.

Soon after coming to CHOC, Angelina began swallowing therapy. When someone experiences swallowing difficulty, they are at risk for food or liquid entering their lungs, called aspiration, which may lead to pneumonia. Karin Mitchell, a speech and language pathologist who specializes in the NICU setting, worked with Angelina on swallowing safety. Karin guided baby Angelina through exercises for her mouth and tongue to learn how to properly swallow saliva. Then, they could work on breastfeeding support and syringe feeding.

Angelina couldn’t move her legs when she was born, and her parents weren’t sure if she ever would. Thanks to physical therapy, today she can bend her legs more than 90 degrees.

Throughout their stay in the NICU, Johanna and Graham were thankful to have the ability to sleep overnight in their daughter’s private room. Because Angelina was born during flu season, her 3-year-old sister couldn’t visit the NICU. Her parents would stay at CHOC all day, go home to do their older daughter’s bedtime routine, and then one parent return to CHOC to sleep alongside their new baby.

“We had the privacy we needed, and I felt comfortable doing kangaroo (skin to skin) care,” Johanna said. “I hadn’t planned on my baby staying in the hospital, and at least having our own room, and even something as small as being able to watch TV gave me a small sense of normalcy.”

Johanna and Graham also appreciated the sense of normalcy provided by a Super Bowl party thrown for parents on the unit. An infant CPR class offered on the unit helped them feel more prepared to eventually take their baby girl home.

For big sister Genevieve, CHOC offers an innovative webcam system so family members can be together and bond with their newborns when they can’t be at the bedside. The system allows families to see real-time, live video of their infant remotely, from anywhere they can securely log onto the internet.

“CHOC had a lot of things in place, like the secure camera in Angelina’s room, to make things easier on us as a family,” Johanna said.

A month after she was born, Angelina got to go home for the first time.

angelina-first-halloween
Angelina dressed as a pumpkin on her fist Halloween.

“We were so ready to take her home, and finally be together as a family,” Johanna said. “But it was still a little nerve-wracking. We bought four different types of baby monitors; we were used to seeing her surrounded by machines.”

A few weeks later, Angelina began swallowing therapy twice per week and physical therapy three times per week. Now 15 months old, the amount of progress she has made has made her parents proud.

She couldn’t move her legs at birth, but a year later she is rolling and reaching. Her parents credit her CHOC physical therapist Lauren Bojorquez.

“Lauren didn’t just think of what Angelina was doing now; she was always thinking ahead about what would benefit her in the future,” Johanna said.

For example, Lauren and Angelina worked on rolling because it would eventually help her learn to sit. When babies roll, it helps develops muscles that will later help them sit.

angelina-speech-therapy
Angelina with her speech and language pathologist Annie.

Meanwhile, Angelina was working with CHOC speech and language pathologist Annie Tsai to learn how to cough, swallow, and accept food by mouth. Swallowing therapy focused not on quantity of food consumed but on quality of how the child feeds or swallows safely. Angelina’s work with Annie focuses on movement, strength and coordination within the mouth to prepare for eventually swallowing food.

Angelina still receives most of her nourishment through a feeding tube, also called a g-tube. The tube can stay in a patient’s stomach for months or years and allows the child to receive fluids, medicines and nutrition when they can’t take in enough nutrition by mouth. Every few months, Angelina sees gastroenterologist Dr. Jeffrey Ho for follow-up appointments for nutrition, feedings and g-tube care. Dr. Ho remains in close contact with Annie, her speech and language pathologist.

“Being able to eat in a typical manner is always the goal,” says Dr. Ho. “Every baby and child are different. Right now, we are focusing on what we can do to better optimize her potential to orally feed.”

Now, Angelina can sit in a highchair, bring her hands to her mouth, accept small tastes by mouth and better clear her congestion especially when she’s sick.

“Something I hadn’t realized before Angelina was how big a part food plays in our culture. As people get older, going out to eat or meeting for coffee is a social activity. I was sad that she wouldn’t get to have those same experiences,” Johanna said. “When she started to accept tastes by mouth, it made me think of her in the future, and being able to go out with friends and at least taste something, and still participate socially.”

To further practice feeding therapy at home, Angelina has a mesh pacifier typically used to soothe teething babies. Her parents often put the same foods in her pacifier as the rest of the family is eating. So far, there hasn’t been a food she’s tried that she hasn’t liked.

Angelina’s paternal grandma was an adult speech and language pathologist by training. When Angelina started speech therapy, she updated her license and certification to help her granddaughter at home. She comes to some of her sessions at CHOC and learns from Angelina’s care team.

Also participating in therapy is big sister Genevieve, who helps hold the pacifier and can even spoon-feed her baby sister, with a little bit of help.

angelina-family-disneyland
Angelina with her family at Disneyland.

“I am super grateful for CHOC,” Johanna said. “That’s why our family started participating in CHOC Walk when Angelina was born.”

These days, Angelina likes playing with toys, playing with her big sister, and listening to all types of music.

“I had a lot of preconceptions about disabilities and special needs,” Johanna said. “Having a child with special needs is not what I thought it would be. It’s better than that.”

Share your own CHOC story

Meet more CHOC patients:

5-year-old Rayaan fights through battle with brain, spinal cord inflammation

By Hina, mother of CHOC Children’s patient Rayaan

When Rayaan was 16 months old, he caught a simple cold. He had a typical low-grade fever and slept more than normal. I figured he needed the rest and would feel better the next day. The next morning, he was having a difficult time waking up so I thought I should take him to his pediatrician. She recognized something was very wrong and described him as being “unresponsive.” He was immediately transported to CHOC Children’s via ambulance. CHOC’s emergency department team was waiting for our ambulance and ready to care for Rayaan as soon as we arrived. They quickly assessed him and then placed him on a ventilator as he was brought up to the pediatric intensive care unit (PICU).

His care team ordered an MRI of his brain and diagnosed him with Acute Disseminated Encephalomyelitis, also known as ADEM. This means there was widespread inflammation in his brain and spinal cord that damages the myelin, which is a protective covering for nerve fibers. ADEM had affected over two thirds of his brain. We didn’t know it yet, but we would be at CHOC for the long haul.

Over the course of the next six weeks, Rayaan received multiple types of treatment for ADEM. His care team was vast, and included many different specialties: Dr. Nguyen Pham, a pediatric otolaryngologist (ear, nose and throat specialist or ENT), Dr. Gregory Wong, a pediatric gastroenterologist, Dr. Sharief Taraman, a pediatric neurologist, in addition to infectious disease specialists, in-patient physical and occupational therapists, a respiratory therapist, and the feeding team. He was in a coma and on life support for three weeks. During this time, his doctors kept a very close eye not only on him, but also on our entire family. Dr. Nick Anas, CHOC’s physician-in-chief; Dr. Jason Knight, medical director of emergency transport services; Dr. Paul Lubinsky, associate PICU director; and critical care specialists Dr. Juliette Hunt, Dr. Anthony Cherin and all of our nurses became family to us. I remember when Dr. Anas came to check up on Rayaan and he asked me when was the last time I layed next to Rayaan, I replied it’s been a while, and he ordered the PICU staff to transfer Rayaan from a crib to a full-size bed immediately, so I could lay next to my son. Rayaan was connected to every machine and monitor you can imagine, but his doctor was keeping my feelings in mind.

During this extremely difficult time when we were waiting for him to wake up, we were fortunate to have a wonderful support system. The Ronald McDonald Family Room let us escape for a few minutes, occaisionaly breakfast and lunch was provided by generous donors, and my daughter who was only three years old at the time was taken care of by child life specialists, while a social worker and case manager were assigned to us to provide us with counseling. This period was the hardest thing we had ever dealt with in our lives.

After three weeks of being in a coma, Rayaan began showing signs of waking up. He began by slightly moving his hands and arms. A few days later, we noticed his eye partially open. It would take him almost two weeks to be fully awake.  Although he had woken up from his coma, his journey was just beginning. The inflammation in his brain caused severe brain trauma and he lost his speech, and his ability to walk, eat, swallow and drink. While he was still in the hospital, a feeding tube was placed, as his oral muscles were to weak to swallow and chew. After his discharge, the rehabilitation team came in to ensure he would relearn the basics. Nicole Well, a speech language pathologist at CHOC, taught my son how to talk again. A feeding therapist named Polly provided electrical stimulation feeding therapy to make his muscles strong enough again to be able to eat, drink and swallow on his own.

rayaan-emergency-transport-to-pediatric-intensive-care-unit
Four years after his health scare, Rayaan is in Transitional Kindergarten and still undergoes multiple therapies in the effort to make a full recovery from his illness.

Rayaan endured several surgeries and procedures during his hospitalization, and even more after his discharge and as well as multiple visits to the emergency department at CHOC. The CHOC specialists always worked so hard on Rayaan as if he were their own child. I am very grateful to CHOC for saving his life and I know that the comprehensive care we received at CHOC we wouldn’t have been able to get anywhere else.

Today, four years later, Rayaan is in Transitional Kindergarten and still undergoes multiple therapies in the effort to make a full recovery from his illness. He remains under the care of CHOC specialists. I am inspired every day by his strength and his courage to overcome so much at such a young age. Above all, our family is grateful for CHOC, who has provided him with the comprehensive medical care throughout his journey.

Learn more about the pediatric intensive care unit at CHOC

Meet more CHOC patients:

 

Rehabilitation Therapists’ Role in a Pediatric Environment

By Leesha Augustine, physical therapist; Hema Desai, speech language pathologist; Erin Keller, speech language pathologist; Adriana Rusch, occupational therapist; and Vicky Vu, occupational therapist at CHOC Children’s

The field of rehabilitation services includes a wide variety of opportunities including hospitals (where therapists can treat patients in any department), schools, and outpatient facilities including specialty facilities in the fields of mental health, sports medicine, wellness programs and rehabilitation/skilled nursing. Rehabilitation treatment can be provided for a variety of reasons throughout someone’s life from infancy through adulthood. The Rehabilitation Services team at CHOC Children’s includes physical therapists (PTs), occupational therapists (OTs), and speech-language pathologists (SLPs). Each therapy discipline also has licensed therapy assistants.

What training is required to work in pediatric rehabilitation services?

The therapist track for each discipline requires graduate school in order to be licensed by their respective national boards. The Doctor of Physical Therapy (DPT) Program is a three-year post baccalaureate program. The traditional OT program is a two-year master’s degree, with the option to further specialized training with a two-year clinical doctorate (OTD). SLP programs are also a two-year master’s degree, along with completion of a nine-month clinical fellowship following graduation. The assistant track for each discipline require a two-year associate degree including a hands-on practicum and licensing exam.

What does a physical therapist do?

They have the opportunity to work with patients and their families to help them restore function to allow them to return to school, sports, playing with friends, work and family events.

rehabilitation
After surgery, physical therapy played a big role in Sydney’s life. Her PT, Robin, is a two-time Olympic medalist and helped Sydney, a fellow athlete, connect with her treatment.

What does an occupational therapist do?

Occupational therapists help others participate in daily activities as independently and safely as possible. They also help children with sensory difficulties, fine motor skill delays, oral motor and feeding skill delays, and dressing difficulties.

rehabilitation
Occupational therapists help others participate in daily activities as independently and safely as possible.

What does a speech language pathologist do?

The role of a SLP is to prevent, assess, diagnose and treat speech, language, social communication, cognitive-communication and feeding/swallowing disorders so that individuals can interact with others to the best of their ability.

rehabilitation
Nicole, a speech therapist at CHOC, works with patients with feeding and swallowing disorders, speech delays, brain injuries, and vocal cord dysfunction.

Where would you find rehabilitation services in a hospital setting?

The depth and scope of Rehabilitation Services at CHOC Children’s Hospital is vast, with members of the department working within most service areas of the hospital, including: four specialized intensive care units, the hematology/oncology unit, the medical/surgical unit, and the Neuroscience Institute.

Members of the rehabilitation team provide developmental support for many infants in the neonatal intensive care unit (NICU). You may find a SLP or an OT coaching a parent on how to feed their baby for the first time, an OT making custom hand splints to help facilitate improved hand function, or a PT may provide specialized wound care  or assist a patient out of bed for the first time. The rehabilitation team will work with children and families in the pediatric intensive care unit (PICU) so that a parent can feel safe holding their child after a long-term intubation, a patient with a brain injury can say, “I love you” to his family, and play with his favorite toys.

Children with prolonged hospitalizations due to cancer treatment may receive rehabilitation therapy to encourage developmental skills as well as to recover from the effects of their illness and treatment. While they are admitted to the hospital, we work closely with them to help them regain function in a variety of areas: gross motor skills, fine motor skills, daily activities such as dressing themselves and taking steps, feeding and swallowing, eating and drinking safely, and being able to communicate with their friends and family.

As much as rehabilitation professionals love working with children and their families while they’re in the hospital, the primary goal of this team is to facilitate a safe discharge home and to enable our patients and families to participate in the activities that are most important to them.

Our Orange campus also has a multidisciplinary outpatient rehabilitation department including PT, OT, ST, hand specialist, feeding and wound care therapists. Here, our PTs, OTs and SLPs keep working with our patients after they are discharged from the hospital, as well as patients that are referred for pediatric specialty care from their pediatrician. You will also find PTs, OTs and SLPs working in our ambulatory care clinics, and serving as clinical instructors in their graduate and assistant programs.

No matter the setting for rehabilitation services, treatment goals always have the same common theme― helping kids enjoy doing the things they like best like riding a bike, drawing, or even being able to eat a cupcake!

Learn more about rehabilitation services at CHOC

Related posts:

  • Living with polymicrogyria: Angelina’s story
    Shortly after birth, Angelina was diagnosed with polymicrogyria. She remains under the care of many CHOC Children’s clinicians. Part of her treatment includes working with a speech and language pathologist, ...
  • Big Sister Gives Back to Honor CHOC Children’s
    Lily’s big sister, Makenna loved her before she was even born. Seeing the way CHOC’s rehabilitation services team cared for Lily inspired her to give back.
  • Warming Up to Wound Care: Nico’s Story
    Nico’s birth was full of surprises for his mom Jennifer. The biggest one being that he was a boy, when all along she had been expecting a daughter. That wasn’t ...

Speech and Language Pathology Empowers CHOC Patients

In honor of Better Speech & Hearing Month, we spoke to Nicole Paine, who has been an outpatient speech therapist at CHOC Children’s for 4 years, working with patients with feeding and swallowing disorders, speech delays, brain injuries, and vocal cord dysfunction. She also works in CHOC’s Early Developmental Assessment Center , a resource for families with children born early or who had difficulties at or shortly after birth, who are concerned about their child’s development. Speech and language pathology at CHOC helps children develop or improve their speech, language, memory and attention, breathing, and feeding and swallowing in a state-of-the-art rehabilitation center.

Q: Why did you want to become a speech therapist?

A: I have always had a passion for working with children and the special needs population. One of my previous jobs was a special education classroom assistant and one-on-one aide. I was able to see speech therapy firsthand with my student every week. I loved how functional, beneficial, and enjoyable it was for him. I asked his speech-language pathologist questions about the field, borrowed textbooks from her, and sought out additional observation time. I went forward with pursuing a post-baccalaureate degree in communicative disorders and eventually my master’s. Each class and internship I completed made me more confident that this was the field for me!

Q: What part of being a speech therapist are you most passionate about?

A: I love the individual time I get to spend with each patient and their family. It is so rewarding to work together as a team to overcome difficult issues like oral feeding aversions, behaviors, and communication difficulties. Being a part of patient progress is the best part of my job. Whether the progress is big or small, it is all about helping each child reach their best potential. I am also incredibly lucky to work with such a talented team of speech-language pathologists, occupational therapists, and physical therapists  that share my same passion. I love the collaboration on multidisciplinary teams that takes place here at CHOC.

Q: What advice would you offer someone considering pursuing a career in speech therapy?

A: I would suggest interviewing and observing speech-language pathologists in action as much as possible. Our scope of practice is so broad that there are endless opportunities, therapy approaches, and settings to work in. Some college or graduate school programs will allow prospective students to sit in on a class or two. It doesn’t hurt to ask!

Q: What attracted you to CHOC?

A: While in graduate school I was lucky enough to be accepted into CHOC’s full-time outpatient internship program. I knew CHOC was well-respected for many reasons, but was finally able to see that first hand. For 12 weeks I observed, learned, and worked alongside my speech-language pathologist supervisor, treating patients and diagnoses of a wide variety. I lived and breathed what working at CHOC would be like. It was challenging, rewarding, and a ton of fun! There are endless learning opportunities here and I always felt supported by the rehabilitation services team.

Q: What else should people know about speech therapy?

A: People often think we exclusively treat articulation disorders, like making ‘r’ or ‘s’ sounds. We actually can treat a variety of different deficits including fluency (stuttering, cluttering), language (spoken and written), literacy, social skills, cognition (attention, memory, problem solving, reasoning), voice, resonance, auditory rehabilitation (speech delays due to hearing loss), feeding, swallowing, and breathing. It’s typical in a medical setting such as a children’s hospital for speech-language pathologists to treat many patients with feeding and swallowing disorders. Speech-language pathologists need specific education and specialized training by mentors and continuing education courses to work with such patients. We’re able to treat feeding and swallowing disorders in addition to speech because we have extensive knowledge of the mouth and throat anatomy and physiology.

Learn when to ask your pediatrician for a referral for speech or language therapy.

Related posts: