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.

I’m a teenage girl with a lot of hopes and dreams, but with a lot of desires comes big responsibilities. One responsibility that I did not get to “choose” is being a Type 1 diabetic. I’ve been a Type 1 diabetic and a patient of Dr. Paul Thornton at Cook Children's for over eight years now.

My day-to-day life is different than the lives of many others, but I’ve chosen to embrace my differences. Type 1 diabetes is NOT a setback. Dealing with my illness has made me realize that everyone is dealing with a battle we all know nothing about.

Type 1 has helped me be more aware of others and just to be kind when kindness might not be the first resort.

I still am very active in sports, hanging out with my friends, studying at school, and spending time with my amazing family.

My day-to-day life includes many finger pricks, insulin shots, and carb counting. I’m constantly looking at food as just a number. There are often many ups and downs in a single day including being frustrated or irritated due to a high blood sugar or even dazed and confused from a low.

These emotional swings can take a toll, especially at school. Luckily, I have a fantastic team of nurses who help me combat these issues while I am at school. It was more difficult when I was younger because I wasn’t as self- sufficient and needed to rely on one of my parents or a nurse 24/7.

My parents didn’t hold me back from going to birthday parties or even sleepovers, but it was tougher on all of us because nighttime is extremely dangerous. Therefore, my mom and I would have to devise plans to keep my life somewhat regular as a child but still be cautious of my situation.

This often called for some midnight or even 1 a.m. pickups by my parents from sleepovers. Through the years, I have generated an amazing group of friends who are always there to support me. Most recently, I have established some great friendships with some other “Type Ones” … Some people who finally understand what day-to-day life is like for me (and them too).

I don’t look at my disease as a burden but I will say that having someone with whom I relate was and still is a key factor in coping with my case scenario. When I was diagnosed, my world stopped and I did not think that was possible at such a young age.

At the time I was diagnosed, I was really into the Jonas Brothers, and it just so happened that Nick Jonas has Type 1 as well. Knowing this about Nick brought me a lot of comfort because he did not let diabetes stop him.

His ability to still perform and live a normal life while working with his condition in the background is still so inspiring to me.

If you only take one thing from this, I want you to know that you are not alone. With each passing day, it will become easier as you learn more and more about yourself. I have chosen to speak out because this disease does NOT define us.

On Monday, the American Academy of Pediatrics and the American Heart Association released policy recommendations “targeted at federal, state and local policy makers to improve child nutrition through reduced sugary drink intake.” The concern is that the extra sugar contributes to the high prevalence of childhood and adolescent obesity. Excess sugar also increases the risk of a host of other health issues including dental decay, cardiovascular disease, hypertension, insulin resistance and type 2 diabetes.

The focus on sugary drinks is because they are the “leading source of added sugars in the U.S. diet, provide little to no nutritional values, are high in energy density, and do little to increases feelings of satiety (feeling full).”

The suggested action that should be taken includes:

• Increase the price of sugary drinks, using an excise take.
• Decrease the marketing of sugary drinks to children and teens.
• Require the amount of sugar content on nutrition labels, restaurant menus and ads.
• Make healthy beverages such as milk and water the default on children’s menus.
• Require hospitals to limit or disincentivize purchasing sugary drinks.

Justin Smith, M.D., a Cook Children’s pediatrician in Trophy Club, states, “The cards are stacked against parents in many ways. When the default option for a kids meal is soda, juice or chocolate milk, parents don’t often realize that those aren’t the best options for kids. The policy even addresses sugary beverage consumption in hospitals because it’s been a problem there as well.”

Dr. Smith adds that pediatricians have to continue to educate parents and address the issue at the individual visit level. But he’s not sure if this strategy has made a significant difference in the amount of sugary drinks children are consuming. “The intake of sugary beverages is harming children, but many of them aren’t ready to make healthy choices without some guidance,” Dr. Smith said. “Parents can help but for those parents that don’t know or don’t help their children make those choices, we may need some changes at a bigger level.”

Fighting obesity is a passion of Kim Mangham, M.D., a Cook Children’s pediatrician in Keller, and she calls sugar a “huge” factor in today’s kids becoming obese.

“Sugar affects the pleasure centers in your brain much like other addictive substances,” Dr. Mangham said. “I advise my parents to try to avoid offering beverages and processed foods high in sugar and added salt because kids will start to prefer these foods over the healthy natural fruits and vegetables.”

Dr. Mangham says removing sugary drinks from your home will lead to less weight gain in kids and that sticking to water and milk is a great first step in helping kids achieve a life free from the many burdens of obesity.

Joel Steelman, M.D., an endocrinologist at Cook Children's, states the higher sugar intake that makes kids obese is particularly easy to get when children drink it in the form of sodas or other sugar-sweetened beverages. He uses this formula to explain:

“Obesity, particularly when we’re talking about obesity in the waist area, leads to diabetes and metabolic syndrome risk,” Dr. Steelman said. “The fructose component in sucrose (table sugar) or in high fructose corn syrup is strongly suspected in impacting how our liver works and raising risk for diabetes. Also, high sugar intake can create a continued craving for more sugar.”

These health risks hit home for Dr. Mangham. Her mother has type 2 diabetes and so do her siblings. When she speaks to families she talks to them about their family history and educates them on their risks of getting the disease.

“Parents are in control of the amount of sugar their children get per day, even if they don’t realize it,” Dr. Mangham said. “I advise my families to try to keep it out of the house, so everyone can be healthier. Kids are not mature enough to know when they have had enough candy or candy bars or donuts. They need their parents to set appropriate limits.”

But in the days after her birth, enthusiasm turned into fear as baby Ella began to show signs that something wasn’t right.

“She would get jittery. She would scream and she was constantly hungry,” said Carol.

Doctors at the Tucson hospital where Ella was born quickly realized that the little girl with a full head of hair had dangerously low blood sugar, also known as hypoglycemia. Ella couldn’t go home and that big Christmas celebration, along with everything else in her life, now seemed in doubt.

Ella’s caregivers tried several different treatments and when nothing worked, they began to suspect Ella had a rare disease called hyperinsulinism (HI). Hyperinsulinism occurs in about 1 in 50,000 babies. If uncontrolled, it can cause seizures and permanent brain damage.

“The doctors in Tucson did a great job diagnosing Ella’s hyperinsulinism, which was quite severe. They called us knowing about our work with the 18F DOPA PET scan and transferred her here,” said Paul Thornton, M.D., medical director of Cook Children’s Hyperinsulinism Center, one of the top such centers in the world.

Cook Children’s is one of only two institutions in the country to offer an HI program. It’s also one of the only places using the new investigational drug 18F DOPA. When combined with a PET-CT scan, the drug gives doctors a way to treat and even cure patients with few to no side effects.

The Vallecalle family received the call in late November that it was time for Ella to go to Texas. They would be traveling with Cook Children’s Teddy Bear Transport team.

“I was so nervous about leaving my son and also about what we were going to find out about Ella’s condition,” said Carol. “Then all of the sudden, I see these people in blue jumpsuits. There’s this beautiful Texan woman with her big, thick accent and she’s like ‘How y’all doing?’ and I just knew we were going to be fine.”

Carol rode with Ella on the plane to Texas and when they arrived at Cook Children’s, Dr. Thornton and his team got right to work. Using the 18F DOPA drug and the PET-CT scan, they were able to pinpoint the exact location in the pancreas that was causing Ella’s low blood sugar. They were also fairly certain that she had a form of HI known as focal disease, meaning there’s was a chance she could be cured.

“About half of the babies born with HI who are resistant to medical therapy have focal disease which we can treat and cure. The other half has diffuse disease which means they will have persistent hypoglycemia throughout their lifetime,” said Dr. Thornton.

One week after she arrived at Cook Children's, John Uffman, M.D. performed surgery on Ella. Using results from the PET-CT scan, he removed a small portion of the pancreas where a lesion was triggering her HI. She recovered quickly and days later underwent a 16-hour fast. Without any food for that extended period of time, Ella was able to maintain a healthy blood sugar level and her body was able to make ketones, molecules that should be produced during periods of low food intake.

Ella was officially cured.

“I never saw this day coming,” said Carol. “She’s going to have a normal life. She’s going to be able to travel and fall in love and do all of things that she wants to do. It’s a blessing.”

Dr. Thornton is also thrilled about the good news.

“It’s a really big deal for a baby like Ella to be cured because this disease is very serious. The new 18F DOPA drug and PET scan have really made a difference in how we are able to treat these HI patients. In the past, we might have cured a patient but we would have had to remove much more of the pancreas causing almost certain diabetes after surgery.”

Not only are doctors able to offer a cure without the threat of diabetes, they’re also able to send children home much faster than before. Within two weeks, Ella was able to leave Cook Children’s HI free. Before 18F DOPA and the PET scan, Dr. Thornton says most children would be in the hospital for 40 to 50 days.

“I’m just so excited to be home for Christmas,” says Carol. “When we left Arizona, we were fully expecting to be in Texas for a month or more. My son was worried that Santa wouldn’t find us.”

Santa will know exactly where to find the Vallecalle family. For the first time in her life, Ella went home Dec. 15. They will spend Christmas with their family.

More about Cook Children's Hyperinsulinism Center

One of only two such programs in the nation Cook Children's Hyperinsulinism Center uses a specialized team approach to treat this rare disease. Hyperinsulinism affects many areas of the body, so to truly treat the disease, each child is seen by top physicians, nurses, researchers and specialists in the field. These medical professionals have spent additional years of intense study and have dedicated their practice to focusing on hyperinsulinism so that your child has access to the medical care that treats all the symptoms. It is this level of treatment that has helped earn our program a distinguished international reputation for extraordinary care and achieving positive results.

Paul Thornton, M.D. is the medical director of Cook Children’s Hyperinsulinism Center, one of only two such centers in the U.S. and the only one in the southern portion of the country. He has dedicated his life to researching and treating congenital hyperinsulinsim (HI), and in turn has helped improve the quality of life for countless children.

Dr. Thornton’s work is so well respected he was recently named a Rare Disease Hero by Rare Disease Communications. The award recognizes five physicians each year for groundbreaking research and treatment in the rare disease community.

“Rare Disease Communications is proud to be honoring these real-life heroes,” said Chris Davis, president of Rare Disease Communications. “This is, indeed, a rare opportunity to applaud the silent victories that mean so much to patients and families.”

In addition to the Rare Disease Hero award, Dr. Thornton was also recently honored at the 2016 sugar sHIndig at the Fort Worth Science & History Museum where he was given the Be My Sugar Medical Excellence Award by Congenital Hyperinsulinsim International (CHI).

“It’s an honor to be recognized by the leaders in the congenital hyperinsulinism community,” said Dr. Thornton. “As we continue to treat children from across the country and the world, we’re excited to share information about our program and the excellent team providing quality, family-centered care.”

Limiting how much Halloween candy your kids eat isn't as tricky as it seems. Stop them from getting too much sugar with these tips:

1. Eat a healthy meal. Kids who fill up before going trick-or-treating or to a Halloween party are less likely to eat too much candy.

2. Remember you're in charge of setting limits. "I let my kids eat a few favorite pieces on Halloween night and then save the rest for later," said Kim Mangham, M.D., a pediatrician with Cook Cook Children's. "After a week of enjoying a few pieces of candy each day, we throw it away or freeze it."

3. Offer healthier treats. Hand out pieces of dark chocolate and small bags of popcorn, or avoid food altogether and give away small toys, pencils, erasers or stickers.

4. Focus on making memories. "Halloween is a fun, magical time," Dr. Mangham said. "Focus on costumes and decorations and play Halloween-themed games and spooky music rather than making it about the candy."

About the author

Kim Mangham, M.D., is a Cook Children's pediatrician at 1601 Keller Parkway in Keller, Texas. She earned her medical degree at University of Texas Southwestern Medical School in Dallas. She completed the pediatric residency program at University of Oklahoma Health Sciences Center in Oklahoma City. Her interests include breastfeeding education as well as disease and injury prevention. Dr. Mangham is board certified in pediatrics.

In the field of endocrinology, however, there has been ongoing serious scientific study regarding risk of diabetes and metabolic syndrome linked to artificial sweetener use. Unfortunately, a definite answer hasn’t been reached to this question. One of the primary barriers making scientific investigations difficult is the fact that many of those using AS are already obese and at high risk for diabetes and metabolic syndrome.

A number of theories have been offered by those who believe the link between AS and diabetes/metabolic syndrome is real. Perhaps, those using AS over-estimate the calorie savings from AS and over-eat. Perhaps, the craving for sweetness is increased with AS use leading again to extra sugar-rich calories in the diet. Perhaps, there is premature loss of satiety (that sense of fullness with a meal) when AS is used leading to earlier return of hunger. There are many other theories as well with individuals lining up in support or against the theories.

A newly published article from last month adds more information on the possible link of AS to diabetes/metabolic syndrome. The scientific study investigates the effects of AS in both mice and humans from a unique perspective and made national headlines.

The most provocative part of the article deals with an 11 week investigation in mice. The mice were given artificial sweeteners (saccharin, aspartame, sucralose) along with a regular diet. They were tested at the start and at the end of the experiment. The mice given AS had an abnormal, pre-diabetic response to a large meal of glucose (sugar) compared to mice given water or sugar-water. A smaller number of mice in the study were tested with a combination of saccharin and a high fat diet and showed a pattern of pre-diabetes in blood testing within 5 weeks. The research reported in humans in this study was less compelling and showed pre-diabetes changes in some but not all of the human research participants.  

What was the reason offered by the researchers explaining pre-diabetes changes seen in AS use in their research? Gut microflora and the changes they believe occur in the digestive system from absorbing artificial sweeteners. I know you want to know more about gut microflora, right?

Gut microflora refers to the many kinds of bacteria living the digestive system. Our knowledge about the kinds and roles of these helpful bacteria continues to increase. Scientists have known for a while that these bacteria help make some essential vitamins such as vitamin K and help keep bad bacteria from multiplying too fast.

The research reported drastic changes in the types of gut microflora in all the mice fed artificial sweeteners and in some of the human subjects. The unique theory offered by their research is that changes in the gut microflora caused by AS exposure were responsible for the pre-diabetes seen in the research. In other words, the artificial sweeteners changed the numbers (increasing some and decreasing others) of the many different microflora in the bodies of the mice.

As a pediatric endocrinologist, I welcome the ongoing investigation of the safety of AS use. For many of the children and their parents whom I care for there is a problem. Excess dietary sugar represents a significant fuel to the obesity epidemic and must be managed. Dietary use of AS is almost essential in those with type 1 diabetes to help in maintaining stable blood sugars. For those with type 2 diabetes, AS may help in managing daily calorie intake and reversing obesity.

It is probably overly optimistic to believe that AS are completely without impact on the body. The real ongoing scientific challenge is gaining the proper perspective on their health impact. Proper perspective is very important. For instance, the AS exposure in the mice studied was maximal, which would be comparable to drinking 19 diet drinks per day which is very unnatural.

The big, unanswered question brought up by this research is what could be the long-term effects in those who eat or drink much lower levels of AS. I personally decided within the past year to reduce my AS intake as part of an overall decision to eat healthier. This study doesn’t persuade me yet to eliminate AS completely (I love Diet Coke^® too much). My best advice after reading this article is moderation and continued focus on a healthy diet.