Charlee was diagnosed in utero with congenital hyperinsulinism (CHI)—a rare genetic disease of the pancreas. Although there are several forms of the disorder, hyperinsulinism is a condition in which the pancreas produces too much insulin, driving blood sugar levels dangerously low and depriving the brain of important fuels it needs to function.

"Hyperinsulinism is a rare condition affecting about 1 in 20,000 to 30,000 newborn babies each year," said Paul Thornton, M.D., medical director of the Cook Children's Hyperinsulinism Center. "However, it is the most common cause of severe hypoglycemia in the newborn. Despite this, unfortunately today, there are still patients who have delays in diagnosis. This can be very damaging as this form of hypoglycemia puts babies at a high risk of brain damage."

The Perkins are no strangers to the disorder as their 11-year-old daughter, Ava, was also born with CHI. Even so, the pandemic made the somewhat familiar situation much more challenging.

Babies born with CHI need a quick and correct diagnosis and immediate intervention with medication to increase blood sugar levels. Without these measures, they can suffer seizures, brain damage or even death for a disease that can be managed with various therapies and, in some cases, even cured with surgery. An amniocentesis revealed Charlee’s CHI prior to his birth, giving the family important information they needed to prepare for his arrival.

The first major hurdle was to determine where to deliver Charlee. He would need care at a medical facility with a center specializing in CHI. Only two of those exist in the U.S.—one at the Children’s Hospital of Philadelphia (CHOP) and the other at Cook Children’s Medical Center in Fort Worth. The Perkins were familiar with the center in Philadelphia as that is where Ava received treatment shortly after her birth, but the pandemic made traveling that far from home complicated. They needed something closer, preferably a facility a reasonable car ride away.

An internet search led the Perkins to Cook Children’s where they were put in touch with Dr. Thornton who trained at CHOP and is considered a world-renowned expert on the disorder.

“I was impressed whenever Dr. Thornton called me and talked on the phone with me for close to an hour,” Perkins said. “I know he's a very busy man. So, we decided to go ahead and cancel our plan to go to Philadelphia.”

The Perkins worked together with a multidisciplinary team of obstetricians from Texas Health Harris Methodist Hospital and CHI experts from Cook Children’s to develop a game plan for Charlee’s birth.

"From the first moment I met with Mrs. Perkins and we talked about how we could help her prepare for the birth of her child with a rare disorder, I was impressed with her determination to ensure the best possible care for her baby from the moment of his birth," Dr. Thornton said. "Her sacrifice to leave her family and travel to Cook Children's so that she would be able to deliver her baby where our team was ready to treat him from birth was the best choice she could make."

But in the months that followed things went awry for Laurie. Preeclampsia and placenta abruption made for an early and dramatic delivery, throwing Charlee’s care team into action much sooner than originally anticipated. Charlee was born at 32 weeks gestation on July 7. As expected, his blood sugar was dangerously low. He was immediately transferred to Cook Children's and given medication to increase his blood sugar levels.

"By being prepared for a baby with severe hyperinsulinism we were able to have him stabilized within 30 minutes after birth," Dr. Thronton said. "This gave us the best possible ability to get a good long-term outcome for Charlee."

A Chance for Charlee

The Perkins had two treatment choices for Charlee. Either subject him to a lifetime of feeding tubes and continuous feeds to keep his blood sugar from dropping too low or have surgery to remove most of his pancreas. The latter would mean Charlee, like his big sister, would be a diabetic and dependent on insulin injections to regulate his blood sugar.

This time, the familiar made choosing the surgical option for their baby much easier. Charlee and big sister Ava have the exact same form of CHI. Ava’s pancreas was removed as an infant and, with the help of her family, she has been able to successfully manage the resulting diabetes. Even as an 11-year-old, she knows how to check her blood sugar, can read her glucose monitor and can change her cordless insulin pump. Nothing stops her from enjoying all of the activities in which kids her age take part. The Perkins knew they could instill the same knowledge, independence and confidence in Charlee as they have Ava.

Before they could do surgery, Charlee had to overcome the challenges of prematurity while in the NICU.

“Not only did he have CHI, but he had to beat all of the early preemie baby stuff to even be able to sustain surgery,” Perkins said. “He was born on July 7th at 32 weeks and was ready to rock and roll for major surgery on July 31.”

Meeting A Milestone

The Perkins family found Cook Children’s Hyperinsulinism Center in a milestone year, as 2020 marked the center’s 10th anniversary of serving children who come from all over the country to receive the very specialized care the center offers.

"The treatment of congenital hyperinsulinism is very complex," Dr. Thornton said. "It's really important that patients with rare diseases have access to multidisciplinary teams such as are at Cook Children's Hyperinsulinism Center where the approach and the experience of the team members caring for these patients results in better outcomes with shorter lengths of stay, getting the patient's home to their families as fast as possible."

Hayden Hood has been a Cook Children’s Hyperinsulinism Center patient since its inception. Doctors discovered Hood’s hyperinsulinism just weeks after his birth in 2000.

“Hayden was so sick when he was born that it took them a matter of days to figure out the problem,” said Davelyn Hood, M.D., Hayden’s mother and a family practice physician in San Antonio, Texas. “You hate to say that you’re grateful that your child is sick but, because he was so sick, they were able to diagnose him early. That’s why he’s had better outcomes than could have been.”

Most of Hayden’s pancreas was removed when he was two weeks old but the problem persisted. After struggling to manage his disease for the first 19 months of his life, the Hoods decided to travel from their home in South Texas to CHOP as it was the only HI center in the U.S. at that time. That’s where they met Dr.Thornton.

“Dr. Thornton helped us come up with a new treatment plan for Hayden, something that we could do to help stabilize his hyperinsulinism condition,” Dr. Hood said. “It was a real roller coaster in those days, and Dr. Thornton was a big part of helping get things on a more stable track for us.”

In what Hayden’s mom describes as a divine turn of events for their family, Dr. Thornton was recruited by Cook Children’s Medical Center in 2002 to join the medical staff as the medical director of endocrinology. The move meant the Hoods would no longer have to travel out-of-state for Hayden’s care.

Dr. Thornton spent eight years growing the Cook Children’s endocrinology program and, in 2010 set his sights on launching the nation’s second HI clinic at the medical center.

“Every child’s HI management is different. It’s a very personalized experience,” Hayden’s mom said. “I think that’s an important distinction. They don’t just have a one-size fits all treatment. At Cook Children’s they’re really able to tailor their care, and I think that’s why families feel heard and like they are getting care that works for them. That’s something extra special about the Cook Children’s center.”

Breaking Barriers

Like most rare disorders, there are few resources for information and support for families with HI, so the Perkins and Hoods led the way in building a few.

Laurie Perkins organized a support group in their parish called Sweet Heroes for children with diabetes so that Charlee and Ava can spend time with other kids who face a similar fate.

Dr. Hood parlayed her medical knowledge into an advocacy role as the president of the board for Congenital HI International, a nonprofit dedicated to improving the lives of those with HI. She is also a principal investigator for the HI global registry which collects data and feedback from HI patients across the globe in order to learn more about the HI experience. Dr. Thornton is active with this organization and endeavor as well.

Living with a rare disorder hasn’t stopped Hayden from pursuing his dreams. And, if his big sister is any indication, it won’t stop Charlee Perkins either.

“I always felt like a normal kid,” Hayden said. “I did every normal thing a kid can do and didn’t feel held back at all. I know I am one of the lucky ones with this disease. So I really do try to take everything as a blessing.”

Hayden went on to become a long snapper for the Texas Tech Red Raiders during his first year of college. Today, he has his sights set on creating a career path that allows him to nurture his love for hunting and ranching. He even started a small hunting guide business with a friend. Now a young adult, Hayden is able to manage his HI with diet, exercise and paying close attention to how his body feels.

"One of the best parts of being an endocrinologist and working in a single institution for a long time is getting to guide our patients from diagnosis all the way up to adulthood and seeing them become successful adults," Dr. Thornton said. "It's even more fun when the families follow you from one institution to another. The big advantage of seeing a child from diagnosis to adulthood is that you come to understand the lifelong impacts of a disease on a child and their family and this makes you a better doctor at the end of the day."

As for little Charlee, his days are full of kisses and cuddles from mom, dad and sister. He is meeting all of his milestones, loves to smile, is sitting up and will be crawling in no time.

Kenda Hooker was 3 years old when doctors discovered a hole in the top chamber of her heart. Like many congenital heart defect (CHD) patients, she went on with her life assuming her heart had been ‘fixed.’ As memories faded, her medical records were lost and her parents, who knew the most about her condition, passed away. So when she ended up with health problems nearly three decades later, doctors didn’t know where to begin.

“I started feeling dizzy and fatigued. I even passed out a few times,” said Kenda. “Several doctors told me the same thing, ‘You’re a new mom, you’re probably depressed. I even had my husband go with me to tell them that there was something wrong.”

Kenda wasn’t depressed. Instead, she was having issues with arrhythmia and would need a catheter ablation to remove the faulty electrical pathway inside her heart. That was just the first of several unfortunate diagnosis’s Kenda would hear over the coming years.

Next, it was the severe heart defect found in her first daughter, Koralyn.

“Koralyn Marie was born April 9, 2012. We knew prenatally that she had hypoplastic left heart syndrome,” said Kenda. “She spent her whole life at Cook Children’s, we were never able to take her home.”

Koralyn’s cardiologist, Lisa Roten, M.D., said her little heart was severely underdeveloped. As hard as they tried, there was little the doctors and nurses at Cook Children’s could do to save her. She passed away at 4 months old.

With the arrival of Kenda’s second daughter, Karis, in October of 2015 came more unwelcomed news. Another heart defect was diagnosed, again prenatally, but this one was less severe.

“Karis has an atrial septal defect,” said Kenda. “She had another hole in her heart but it has already closed on its own.”

Dr. Roten says there’s no way to know right now if there’s a genetic reason Kenda’s daughters both experienced heart problems. After all, she also has three heart-healthy boys.

“Kenda is part of the first generation of complex CHD patients who are truly thriving,’ said Dr. Roten. “A lot of the surgeries we perform now were not an option before the 1980’s so we’re seeing a new group of patients who have undergone surgery and are able to lead pretty normal lives.”

Dr. Roten says there are so many of these patients that a new subspecialty has even been created. At Cook Children’s, The Adult Congenital Heart Disease program treats patients who have outgrown pediatric care, including women with CHD who are considering becoming pregnant.

For Karis, her future is full of hope. Dr. Roten isn’t sure she will even need surgery. Even if she does, it likely won’t be an open heart operation like the one her mother had. Instead, her heart could be mended in the cardiac catheterization lab at Cook Children’s, with just an overnight stay. But like her mother, she will need to see a cardiologist for lifelong care.

“The fact that people with CHDs are going on to have kids shows just how far we have come,” said Dr. Roten. “At the end of the day, it may not be the life you would have chosen for yourself or your child, but it’s not a bad life. People with CHDs are going on to live good quality lives. The most important thing is to keep going.”

About Cook Children's Heart Center
The cardiology team at Cook Children's has extensive experience in the diagnosis and treatment of pediatric heart care. They know the unique requirements of treating the growing hearts of children, including those with extremely rare and difficult conditions. Our areas of expertise include cardiac surgery,interventional cardiology, adult congenital cardiology, electrophysiology, cardiac testing and imaging,echocardiography, fetal echocardiography and cardiac anesthesiology.