When nine-year-old Alyssa was four, a doctor discovered she
had high cholesterol. 200 would be high for an adult, and her levels were at
600, her mom Madelynn says.
“We were just at her normal 4-year-old checkup, and her
pediatrician and I were stumped to see those numbers,” Madelynn recalls. “No
under age 50 in our family has ever had a cholesterol problem before.”
Alyssa’s pediatrician recommended diet changes and fish oil.
But during a check-up a few months later, her numbers hadn’t improved, so her
pediatrician referred her to a cardiologist. That cardiologist confirmed
Alyssa’s heart was healthy but couldn’t explain why her cholesterol levels were
Back at their pediatrician’s office, a urine sample showed
high levels of protein. They were referred to a CHOC Children’s nephrologist, who
was finally able to diagnose Alyssa with nephrotic syndrome caused by focal
segmental glomerulosclerosis (FSGS), a rare kidney disorder. FSGS is a disease where scar tissue develops
on the part of the kidney that filters waste from the blood. Symptoms can include
swelling, weight gain and high cholesterol. FSGS can lead to kidney failure. Alyssa’s FSGS is caused by a genetic
FSGS is a rare condition. Currently, there is no cure for
FSGS, although various research studies are in progress. To date, Alyssa has
tried ten different medications and treatments—each of which are originally
designed for other diseases, but she has not responded to those treatments.
“If my own mother were not a registered nurse, I think I
would’ve been overwhelmed with the medical world we were thrust into upon
diagnosis,” Madelynn says. “I’ve had to educate myself about a lot of these
medicines, so I knew what I was putting into my daughter.”
Because Alyssa is immune-comprised, she gets sick more
easily than others. She’s been admitted to CHOC several times during flu season
when she just can’t fight off certain bugs.
“Her doctors are just as frustrated as we are that she
hasn’t responded to all the treatments we’ve tried,” Madelynn says. “FSGS is
rare, and her team wants to find new medications that will help her.”
Madelynn hopes to offer sympathy and comfort to other
parents whose children are living with rare diseases.
“Parenting a child with a rare disease is worrisome and frustrating,” she says. “It’s important that we try to educate people about the need for further research.”
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, ...
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 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.
“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.
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.
“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.”
From the very beginning, Melissa and Kris knew their twins
were fighters—they were also a surprise; the couple hadn’t been sure if they
were going to be able to have more children.
“We knew these twins had a purpose and a reason. From the
very beginning of their lives, they were a miracle all around.”
Melissa experienced hyperemesis gravidarum also known as HG,
a rare condition characterized by extreme nausea and vomiting. Most pregnant
women experience morning sickness, but less than 3% experience HG, which can
lead to near-constant vomiting, dehydration, weight loss and malnutrition.
“From the second I was pregnant, I was extremely ill. The
three of us shouldn’t have lived through my pregnancy, but we did,” Melissa
says. “The twins are little fighters. From the womb until now, they’re just
Her body was so depleted that she was put on extended bedrest
and hospitalized on and off throughout her pregnancy. She needed a PICC line,
or peripherally inserted central catheter, for two-thirds of her pregnancy.
PICC lines are sometimes needed when intravenous (IV) medications are required
over a long period of time.
“The babies were getting all their nutrients from me, and I
was so sick. It was really scary,” she says. “One night while on hospitalized
bedrest I needed four blood transfusions. My body was shutting down. The babies
were ok through everything—the blood transfusions, me getting IVs, copious
amounts of potassium, medications, everything. They just kept going.”
Showing signs of gastroesophageal
reflux disease (GERD)
A few days after they were born, Bowie and Finley started
showing signs of gastroesophageal reflux (GER). This occurs when a small amount
of acidic stomach fluid or food in the stomach goes back up into the esophagus
or swallowing tube. Two-thirds of healthy infants experience gastroesophageal
When the reflux causes intolerable discomfort or complications, children may be experiencing gastroesophageal reflux disease (GERD). Nurses at the delivery hospital told the parents the babies were spitting up and throwing up more than they should be. By the time they went home a couple days after they were born, they had lost a bit more of their birth weight than they were supposed to. Melissa and Kris’ older children Scotlynd and Kingston had GER when they were younger, so they thought they knew what to expect.
Most cases of GER resolve without medication. In rare cases,
treatment of GERD requires surgery.
“The older kids just got through it and was never
life-threatening,” Melissa said. “With the twins, it went from ‘all babies spit
up, they will be ok like their siblings’ to failure to thrive and
Each twin had life-threatening episodes of GERD. Melissa
recalls an especially frightening night with Finley.
“After one middle of the night feeding, Finley threw up and
that time, I wasn’t sure if she was ok. I went back in her nursery to check on
her and she wasn’t breathing. It was the most terrifying moment. She was limp.
I screamed for my husband. We tried everything to wake her up.”
Their pediatrician referred them to CHOC pediatric
Greg Wong. The two physicians worked together to improve GERD
symptoms. Despite trying to change feeding times, amount and type of formula,
and medication, the symptoms just weren’t going away.
“We wanted to stay within the CHOC network. That was
important to me because our older son had been treated at CHOC, and we fell in
love with the CHOC family,” Melissa says. “We know how not only wonderful and
caring they are, but from a medical perspective too. We wanted the best for
them and we felt CHOC was the best.”
Bowie and Finley’s
path to surgery
The family hadn’t wanted to prematurely jump to surgery as
an option, but in the end, it was the right decision. They were referred to Dr. Peter Yu,
a pediatric general and thoracic surgeon at CHOC.
“Dr. Yu made us feel so comfortable. He really knew what he
was doing,” Melissa said. “The CHOC team felt that we had exhausted all other
options, and that surgery was the best option for the twins.”
Bowie and Finley underwent surgery when they were about 6
months old. Dr. Yu
performed a minimally invasive procedure known as laparoscopic Nissen
fundoplication to repair the twins’ GERD. At the same time, he repaired their
are not identical babies, but they had identical surgeries,” Melissa says.
was performed on one baby at a time. Afterwards, they were brought to recovery
rooms right next to each other, so one parent could be with each twin, and they
could be close by.
“Before surgery, the babies were so sickly,” Melissa said.
“After surgery, they are completely different babies.”
The twins are now feeding, growing and thriving. One of many
benefits of this surgery has been less laundry. Melissa and Kris used to have a
full hamper of laundry every day because the twins went through clothes and
sheets so often.
in the hospital
Melissa’s birthday was the day after surgery.
was another birthday spent in the hospital, but it put things in perspective,” she
said. “The best gift I could’ve gotten was for them to be healthy and thrive
again. You think about the important things, and everything else fades away.”
Helmet therapy and physical
of the family’s efforts to control the twins’ side effects of GERD had been to
keep them in one position to limit their acid reflux. Because of this, they weren’t able to do tummy time which helps
prevent flat spots on the back of the head.
surgery, Finley and Bowie wore helmets for three months that helped correct the
growth and shape of their skull.
Because of GERD, the twins’ backs were strong, but their
cores and trunks were weak. They are in physical therapy to strengthen their
bodies and help them roll and move around using the correct muscles.
A message to other
Melissa’s advice for other moms taking care of babies with
GERD is to just keep asking questions and remember that every baby is unique.
are a lot of levels of GERD, and I didn’t know how severe it could be until it
happened to us,” she said. “I learned not to compare my babies to anyone
else’s. Every kid is different.”
She added that this experience taught her that trials are
temporary, and things will get better.
in the heart of it when you can’t get through another day, and you have to take
it minute by minute,” she said. “I always say it’s only temporary. It might not
get better right away, but it will.
Last Mother’s Day, Melissa was on bedrest in the hospital, days away from giving birth to her twins. This year, she’s looking forward to celebrating her family being complete—and healthy.
“You have to look back and see where you’ve come from to see
how wonderful it is. Last year wasn’t this way. I spent last Mother’s Day with
them in the hospital preparing to give birth,” she recalls. “It’s amazing to
see how far we have come in a year. We are moving forward, and we can truly
enjoy them and enjoy our time as a whole family.”
The twins’ first birthday falls right after Mother’s Day.
The family is planning a big celebration in their neighborhood.
“We want to include everybody that was there for them from my pregnancy through the first year of life,” Melissa says. “We want to celebrate that they made it and thank everyone for their help. Everything has been so up and down and up and down, and now were in the clear.”
Lindsey and Oliver Nam had hoped to hold a special celebration to mark their daughter Ella’s 100th day of life – a tradition in some Asian cultures to commemorate an important milestone for a family.
But a big celebration with friends and family would need to wait.
Shortly after birth, Ella was diagnosed with coarctation of the aorta, a congenital heart defect. While the family awaited next steps, they couldn’t risk her being in a large crowd and getting sick.
“It was hard,” Lindsey says. “That’s the scariest thing to think about. You just brought them into the world and now something is wrong.”
The journey begins
Tests conducted just after Ella’s birth in December 2017 first revealed a heart murmur, an unusual sound made by blood circulating through the heart’s chambers or valves, or through blood vessels near the heart.
After two extra days in the hospital, Ella had progressed nicely and the new family of three headed home. On the horizon were follow-up medical appointments to determine whether Ella’s murmur was harmless or caused by an underlying heart condition.
At home, Ella was gaining weight, doing well and reaching milestones – so when a pediatric cardiologist made his diagnosis, her parents were surprised.
Coarctation of the aorta means that a large artery in Ella’s heart that carries oxygen-rich blood from the left ventricle to the body was too narrow. This can restrict the amount of blood that could travel to the lower part of Ella’s body.
If the condition went untreated or the aorta didn’t widen on its own, Ella’s heart would need to work harder and harder to pump blood, leading to a possibility of stroke or heart failure.
But because Ella was healthy and doing well, the family considered alternate timelines for treatment and sought second opinions.
A big decision
When Ella was about 7 months old, though, surgery became a reality. After more tests, experts at the CHOC Children’s Heart Institute recommended Ella undergo surgery to correct the problem as soon as possible.
“It was hard to hear,” Lindsey says. “That’s when we started to get worried.”
Dr. Richard Gates, a pediatric heart surgeon and co-medical director of the Heart Institute, would perform the procedure. By working through Ella’s back, near her shoulder blade, he would widen the narrow artery.
Heading into surgery day, Lindsey and Oliver were frightened, but maintained a brave face for their daughter.
“Going into it and preparing for it, I was strong,” Lindsey said. “I didn’t want her to think anything was wrong.”
The procedure went well, but Lindsey’s strong façade crumbled when she saw Ella afterward.
“The worst part was when I saw her after the surgery,” she says. “Everything was fine but seeing her sedated and with all these tubes in her – oh, my goodness. It was a lot to handle. I broke down.”
Ella was in great hands at CHOC’s cardiovascular intensive care unit, where she spent five days recovering after surgery. By the fourth day, Ella was able to keep down milk and even ventured outside for a wagon ride. On the fifth day, the family of three headed home.
“It’s the best feeling ever,” Lindsey said.
Several months after surgery, Ella has had some follow-up visits and there remains a chance that she may need surgery again someday.
For now, though, she is healthy and right on track developmentally. Ella is crawling and pulling herself up on furniture, with first steps nearly within reach.
Rather than worry about the future, the Nams are mindful to focus on Ella’s happiness and health – and they’d offer the same advice to another family contending with a heart defect.
“I would just say remain calm and just take it one day at a time,” Lindsey says. “Also, do your research and try to get second and third opinions.”
Time to celebrate
The family has also been making up for some lost opportunities. In lieu of the big 100th day celebration the Nams never got to host, they went big when it came to commemorating Ella’s first birthday a few months ago.
Veer’s father Jatin spent many sleepless nights searching the internet for ventricular septal defect (VSD), a condition his son has endured since birth. He was nervous awaiting his son’s upcoming appointment for a heart surgery consultation and wanted to know everything he could about VSD.
Veer was born at a local hospital and diagnosed with VSD at birth. Veer was monitored regularly by a physician, and when he was 18 months old, his parents transitioned his care to CHOC Children’s cardiologist Dr. James Chu to monitor the VSD.
“Dr. Chu kept on an eye on Veer to make sure he was doing well. He got regular echocardiograms, first every two to three months progressing to every six months and then every year since he was getting better,” says Veer’s mom, Sweta.
VSD is a hole between the heart’s lower chambers allowing blood to pass from the left to the right side of the heart. The oxygen rich blood then gets pumped back to the lungs instead of out to the body, causing the heart to work harder. Often, small VSDs can close on their own.
An echocardiogram, also known as a cardiac ultrasound, uses sound waves to create pictures of the heart. It shows the structure of the heart and its parts and how well they’re working.
A few months before Veer’s fourth birthday, Dr. Chu said the hole in his heart was no longer improving and that it might need to be surgically repaired. The hole was very close to the AV nodes (the natural pacemaker of the heart) and the tricuspid valve was regurgitating which can lead to right-sided heart failure.
Dr. Chu referred Veer to CHOC Children’s pediatric cardiothoracic surgeon Dr. Richard Gates for a consultation. Dr. Gates saw the echocardiogram and knew right away Veer would need surgery to repair the VSD.
“Before we were able to meet with Dr. Gates, we had so many sleepless nights thinking about what could happen if Veer needed heart surgery. But after meeting Dr. Gates, we felt comforted and confident about moving forward with surgery. He explained every step of the surgery to us and answered all of our questions,” says Sweta.
Veer’s surgery would require a biograft, which is like a patch, that will usually cause the valve to fall back into place. If that didn’t happen during the surgery, Veer would need more surgery done to repair the VSD at the time of the operation.
The surgery went well, and Veer only needed the biograft. “Dr. Chu told us recently that the surgery was done so well and precise that you can’t even tell on the echocardiogram where the graft was done,” says Sweta.
“Our experience with CHOC was amazing. All of the doctors, nurses and child life specialists took care of Veer like their own family member,” Sweta says. “The child life specialists were so friendly. Veer loves bubbles and cars, so they brought him bubbles and the Disney Cars movie. He got to hold the iPad and watch the movie before the surgery which made him so happy. After surgery, they even brought a larger bed in the room so that I could sleep next to him.”
Today, Veer is full of energy and thriving.
“When he used to play with his toy cars, he would lie on his side because he didn’t have a lot of energy,” Sweta says. “Now he has so much energy that he doesn’t have to do that, and he’s able to run around with his older siblings.”