The award was presented at the Mayor’s International Dinner by Mayor Mattie Parker on Nov. 1. This award recognizes Dr. Thornton’s tenacity and dedication to helping improve the quality of life for children across the globe with this rare disease.

“Born in Ireland, Dr. Thornton is truly world-renowned and one of the leaders in his field,” said Rick W. Merrill, President and CEO of Cook Children’s Health Care System. “We are so glad he settled here in Fort Worth and we are extremely honored to share him with the world.”

Hyperinsulinism occurs when the pancreas produces too much insulin, driving blood sugar levels dangerously low and depriving the brain of important fuels it needs to function. It affects about 1 in every 25,000 to 50,000 newborn babies each year. For those affected by the rare condition, it can be a life-changing event. Without an accurate diagnosis, children face living with seizures and permanent brain damage.

Dr. Thornton has played a pivotal role in establishing the first two hyperinsulinism centers in the United States. First, at Children’s Hospital of Philadelphia and today at Cook Children’s. Our center provides the highest level of multidisciplinary care to congenital hyperinsulinism (CHI) patients and their families, many of whom travel from around the country and the world to receive care from Dr. Thornton and his team.

“This caliber of treatment is not only rare in the United States, but it’s rare all over the world,” said Jonathan Nedrelow, M.D., associate chief medical officer of Cook Children’s. “He does a lot of work with family advocacy groups for rare diseases and is committed to being a part of the journey for these families and patients.”

Dr. Thornton led a team in creating a new international screening that helps other doctors recognize symptoms and manage newborn infants who are at an increased risk of hypoglycemia. He leads HI research to better understand the disease and treatment options and speaks to clinicians around the world about managing this disease.

“Dr. Thornton's tireless dedication has touched lives across the globe,” said Danielle Drachmann, CEO of Ketotic Hypoglycemia International. “His vision, expertise and the collaborative spirit he instills, with the utmost respect for the expertise of affected families' lived experiences, have created ripples of positive change. His work is a testament to the remarkable power of collective effort to make a global impact.” 

Dr. Thornton’s recognition as a leader also earned him one of the first two endowed chairs at Cook Children’s.

“On behalf of all of us at Cook Children’s, we want to say how proud we are to see Fort Worth Sister Cities International recognize our own Dr. Paul Thornton with the Global Impact Award for his very distinguished career,” Mr. Merrill said.

Hyperinsulinism is a rare genetic disease 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. It affects about 1 in 20,000 to 30,000 newborn babies each year.

"The treatment of congenital hyperinsulinism is very complex," said Paul Thornton, M.D., medical director of Cook Children's Hyperinsulinism Center. "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."

The Centers of Excellence designation comes on the heels of Cook Children’s Hyperinsulinism Center’s 10^th anniversary, which was celebrated in November 2020. Dr. Thornton built and leads the program at Cook Children’s, which includes a team of physicians specialized in endocrinology, pediatric surgery, neonatology, neurology, gastroenterology, pathology and radiology. The team is supported by a dedicated CHI nurse practitioner, social worker, clinical therapist, child life specialist, nutritionist and feeding and speech therapists.

“There are some superb institutions known for providing excellent HI care and participating in groundbreaking research, yet until now there has not been a review process or certificate awarded to these institutions for the care of those with HI,” said Julie Raskin, executive director of Congenital Hyperinsulinism International.

The awarded centers are:

• Hyperinsulinism Center at Cook Children’s Medical Center in Fort Worth, Texas
• Congenital Hyperinsulinism Center at the Children's Hospital of Philadelphia, PA
• Great Ormond Street Hospital Congenital Hyperinsulinism Service in London, in the United Kingdom
• Charite-Universitatsmedizin Berlin and the University Children's Hospital Duesseldorf partnership in Germany
• Collaborative Alliance on Congenital Hyperinsulinism headquartered in Magdeburg, Germany
• Northern Congenital Hyperinsulinism Service in Manchester and Liverpool, in the United Kingdom

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.

Like a lot of boys growing up, Dr. Thornton’s interest centered on athletics. He calls himself a “sports fanatic,” playing rugby, cricket, tennis and swimming. As a kid, he played more than studied.

So when Dr. Thornton told his guidance counselor in high school that he wanted to become a doctor, the counselor told the man who would become a world expert in a rare disease that he needed a back-up plan.

What the guidance counselor didn’t understand just yet was that Dr. Thornton’s focus from an early age was on science and medicine. Dr. Thornton saw something in himself that nobody else saw.

“When I said I wanted to be a doctor they told me I should have a backup plan,” Dr. Thornton says now with a twinkle in his eye. “So that was always fascinating to me. I wasn’t the guy people thought was the most intelligent person in the class. Now I’m a world expert in a disease. Once I became a doctor, I realized where my true passion was and I followed it.”

Congenital Hyperinsulinism

Dr. Thornton resides at Cook Children’s as the medical director of the Endocrine and Diabetes Program and the Hyperinsulinism Center. He played a vital role in establishing the first two centers for congenital hyperinsulinism (CHI) in the nation.

His congenital hyperinsulinism program at Cook Children’s celebrates its tenth anniversary this year. The genetic forms of HI affect only between 80 and 120 babies each year. For those affected by the rare condition, it can be a life-changing event. Without an accurate diagnosis, children face living with seizures and permanent brain damage.

The program gives many patients an opportunity for a cure because of the expert staff and the use of an investigational new drug called 18F DOPA in combination with a PET-CT scan to more accurately diagnose and treat HI.

The 18F DOPA/PET-CT scan serves as a diagnostic test that has altered the treatment and even led to cures for children with certain forms of hyperinsulinism. Cook Children’s remains the only facility in the south and the second in the country to use 18F DOPA – an investigational drug – in combination with a PET-CT scan to diagnose focal lesions in children with congenital hyperinsulinism.

Dr. Thornton leads a team of physicians specialized in endocrinology, pediatric surgery, neonatology, neurology, gastroenterology, pathology and radiology. The team is supported by a dedicated HI nurse practitioner, social worker, clinical therapist, child life specialist, nutritionist and feeding and speech therapists.

At the heart of the program is Dr. Thornton, one of the most recognized and respected HI specialists here and around the world.

The Expert

To show what a leader he is in the field, Dr. Thornton’s served as lead author for an article titled “Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants and Children.” This article established the groundwork in creating new screening for physicians to recognize and manage neonates at increased risk for a persistent hypoglycemia disorder.

The guidelines help physicians recognize the symptoms of uncontrolled hypoglycemia caused by CHI who are at risk for seizures or permanent brain damage without early identification and screening.

Dr. Thornton’s recognition as a leader earned him one of the first two endowed chairs at Cook Children’s. He’s a recipient of the Rare Disease Hero award, which recognizes only five physicians each year for groundbreaking research and treatment in the rare disease community.

He’s come a long way from what Dr. Thornton calls his “quirky story.”

Growing Up

Dr. Thornton grew up in a middle-class family in Ireland. His grandfather ran the water department for the government, responsible for water purity for the country. His father did not go to college but rather became a businessman.

Little did Dr. Thornton know how hard his father worked to give his children an opportunity to continue their education.

“I went to a private Catholic school. This is going to sound really strange, but I did not know it was a private school,” Dr. Thornton says while laughing at the thought. “You know in Ireland, everyone wears a school uniform. It’s not like in the States where only private school kids wear one. And it’s not like here, where there’s a private school at every stone’s throw. It just never dawned on me. Later my father said, ‘Do you know how hard we had to work to pay for that school?’”

Maybe it’s that example of hard work that led to Dr. Thornton earning his medical degree by the age of 23, the culmination of a childhood dream.

“It’s funny because there was almost nothing else I ever wanted to be. I knew from the age of 12 that I wanted to be a doctor,” Dr. Thornton said. “I think it was probably because of our family practitioner (Dr. Brendon Deasy). Dr. Deasy was a really good friend of the family, so I got to know him very well. I went to see him professionally every year. I realized that the work of a doctor was a really nice career. You got to meet new people every day. You got to help people. He is probably responsible for showing me what a great job being a physician could be.”

Dr. Thornton went to college without a backup plan. He knew once he got into university and could focus on studying to be a doctor, he would excel.

A Pediatrician

Once his clinical rotations began, Dr. Thornton decided early on that pediatrics was for him.

“When you work with children, they are restorative. You can’t come in grumpy.. You end up having fun doing your day’s work,” Dr. Thornton said. “It never seemed like a lot of fun dealing with adults all the time.”

What did seem like fun was endocrinology. Although his focus came about through a bit of circumstance and travel.

In medical school, Dr. Thornton excelled and “fell in love with learning.” He begins to get noticed too and that eventually led him to Great Ormond Street Hospital (GOSH) for Children, the oldest and one of the most prestigious pediatric hospitals in the world. This job was part of a job exchange with residents from the Children’s Hospital of Philadelphia, so Dr. Thornton headed to the States for a year

Dr. Thornton pauses for a moment thinking about his arrival in the United States.

“I only spent 28 years of growing up in Ireland. I left for England at 28 and came to the U.S. at 29. So actually, I spent less than half my life in Ireland. Wow!”

At CHOP, Dr. Thornton met the mentors who changed his life. He learned about endocrinology and specifically, hypoglycemia. “It didn’t take me long to determine that’s what I want to do with the rest of my life,” he said.

“I was very lucky that I trained at the only place, at the time, that had that sort of hypoglycemia program,” Dr. Thornton added. “So two of the doctors (Lester Baker and Charles Stanley) out of my four attending physicians were the world experts in hypoglycemia. It was just fascinating. The patients we were seeing were very difficult kids to manage.”

At the end of his year commitment, Dr. Thornton planned on returning to England, but CHOP offered him a fellowship to stay. He wrote GOSH a letter that said he wasn’t going back to London.

Returning to Great Ormond Street meant Dr. Thornton couldn’t stay on his new chosen career path. He wanted to learn more about treating children with hypoglycemia. Dr. Thornton did return to Ireland from 1996-1999 but eventually went back to CHOP where he remained until 2002 when he got a call from a recruiter.

Welcome to Cook Children’s

Dr. Thornton admits now he’d never heard of Cook Children’s or even Fort Worth when approached about a new job. He turned the recruiter down. Then a few months later, Dr. Thornton presented a paper at a Pediatric Society meeting. The recruiter showed up to hear him speak and invited Dr. Thornton to breakfast for one final pitch.

The recruiter showed Dr. Thornton pictures of the medical center and information about the institution. They ended up talking for four hours.

Following a trip to Fort Worth and a visit to Cook Children’s, Dr. Thornton accepted the role of medical director of Endocrinology.

“Now I still had so much to do. When I got here there were only two doctors. The waiting time was something like nine months,” Dr. Thornton said. “We had to do a lot of work to get the place how I wanted it. Everyone was good people and everyone was working hard. They just needed new leadership and some organization. So the first two or three years was building the program, hiring nurse practitioners and doctors. I focused on the organizational things and developing protocols.”

Soon, the department blossomed and Dr. Thornton became very busy not only as an administrator but seeing patients. However, something remained that lurked in the back of his mind since his arrival at Cook Children’s.

“I reached a position where I had time to think about my future here in Cook Children’s, ‘I had a skillset and focus on hypoglycemia and congenital hyperinsulinism (CHI). I decided to approach the hospital and say, ‘I'd like to set up a new hyperinsulinism center and develop a surgical program for the babies with HI.’ We wrote a proposal and it was like ‘Boom!’ They said, ‘yes.’”

Building a Program

After helping to launch the first such program in the nation, Dr. Thornton knew what he wanted when he began the second one at Cook Children’s. He brought a nurse coordinator/ nurse practitioner, Lisa Truong, CPNP-AC, to help him with the day-to-day operations.

“When Dr. Thornton asked me to join, I was very excited. It was a challenge to build a program from scratch. Ten years later, it’s still a challenge but I love it. All the kids we see are completely different because it’s such a rare condition. No kids present the same, which I like because it keeps me on my toes. I have learned so much from Dr. Thornton throughout these 10 years. He is an awesome boss and a great mentor."

Over the next three to five years, the program continued to grow and build. Cook Children’s showed their support for the program by naming Dr. Thornton one of the first two endowed chairs in the history of the program. Everything clicked.

Even after all this time, nothing thrills Dr. Thornton more to give good news to the families he treats. He continues to carry on a tradition of taking pictures with his families and marvels at their excitement when things go well.

“They realize that ramifications of what life means for them now that their child’s cured,” Dr. Thornton said. “A lot of these families don’t understand what it will mean to their life until it happens. And then it’s a big shock when they get home and realize, ‘Oh my God, I don’t have to check on my baby’s blood sugar eight or 10 times a day. The difference is so huge. You can just see how very happy the family is when there’s a cure.”

If only that guidance counselor could see him now.

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.

"I would hear that song 'I'll be home for Christmas' in my head, and I'm like, 'I'm not going to be home,'" said mother, Carol Vallecalle.

It was a tough notion for Vallecalle to accept, but not as tough, she says, as what her 6-week-old daughter Ella has been through.

See the full story here.

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.”

Why develop a center for clinical excellence for a rare disease?

Getting help for patients with rare diseases can often be a large struggle for families. Finding someone who understands and has the experience to properly diagnose and treat can lead to frustration for families. Often there is no place to go. For long standing issues, this can lead to bouncing to multiple doctors without resolution of symptoms.

For more acute issues, not having an expert available can cause significant morbidity, even mortality. Today on Pediatric Leadership: The New Medicine, we talk to one of our pediatric endocrinologists who set up a center for treating a rare disease, hyperinsulinism.

Dr. Thornton is a pediatric endocrinologist at Cook Children’s and is the founder of the Cook Children’s Hyperinsulinism Center which is one of only two centers in the country focused on hyperinsulinism. The website for the team lists endocrinologists, pediatric surgeons and many other medical specialities as well as coordination between education, social work and even Ralph Lauren, one of Cook Children’s play therapy dogs.

Questions to work through on the topic:

What is hyperinsulinism and when should a clinician expect it?

What motivated you to begin building a center for treating such a rare condition?

How did you get the institution on board? Who did you have to convince?

What were some of those first steps that got the ball rolling?

What has been the hardest step?

How can someone find out more about the center or refer a patient?

What part of your work are you most proud of?

What is the most important quality for a leader in pediatrics?

To listen:

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For more information:

• Cook Children’s Hyperinsulinism Center
• Dr. Paul Thornton
• Cook Children's Referral Page

At last, after long days plagued with uncertainty, they found their answer on the other end of a phone call from Paul Thornton, M.D., medical director of Cook Children’s Congenital Hyperinsulinism Center and Endocrine Diabetes program.

The family found Dr. Thornton through a Google search and a story posted on checkupnewsroom.com. The article told the story of how Dr. Thornton had led thea team of experts from around the world in creating new screening for physicians to recognize and manage neonates at increased risk for a persistent hypoglycemia disorder. The fact that Dr. Thornton was establishing these guidelines proved to Jake and Tella that he would be the best person to care for their little boy.

Dr. Thornton expected Brantlee had a rare condition called hyperinsulinism. He was right.

While at Cook Children’s, Brantlee had two pancreatectomies and a Gastrostomy Button, or G-Button, installed.

“Brantlee is now the first baby in the United States to undergo this new experimental therapy for hyperinulinism and so far, it is working, allowing him to go home and keep his blood glucose in the safe range,” Dr. Thornton said.

But before they found their answers, the Sanfords were left with only questions.

Brantlee was born a month and a half prior to his due date, weighing a surprising 8 pounds, 6 ounces. He was taken immediately to a Neonatal Intensive Care Unit in Flint, Mich., leaving behind tearful parents Jake and Tella to wonder and worry about the fate of their newborn son. Over the next few days, Brantlee’s insulin levels continued to climb without any explanation.

“We found out Brantlee was having problems shortly after his birth,” Jake said. “We wondered why he was so big for a premature baby and the doctors were curious if we had our due date right.”

However, within a week of Brantlee’s birth, an endocrinologist pulled his parents aside. Noticing his furrowed brow and serious demeanor, Jake and Tella braced themselves for what they could only expect, was bad news. The doctor informed them that Brantlee’s insulin levels were in the 300s when his sugar was 30mg/dL. Typically, a healthy newborn’s insulin level should be less than 2 with low glucose levels.

“In the 32 years he’d practiced, he said he’d never seen a baby at these levels,” Jake said. The doctors initially informed Jake and Tella that their son had a rare form of hypoglycemia, which is when the blood glucose drops below 50 milligrams per deciliter. However, the doctors’ treatments for hypoglycemia were not working on Brantlee. While Jake and Tella continued to rely on each other, both were growing weary and exhausted, continually praying for healing.

“It was a nightmare for us. We were slowly realizing that Brantlee wasn’t a typical premature baby,” Jake said.

After a week of tests and no answers, the doctors recommended Brantlee be sent to a children’s hospital in Detroit. Jake, not about to be away from his son, decided to use all of his vacation days to travel to Detroit with Tella. After extensive tests by multiple doctors, Jake said no one could figure out what was wrong with his baby. It seemed that Jake, Tella and Brantlee had hit another dead end.

But then everything changed.

“My sister had sent me a newsletter from a children’s hospital in Texas called Cook Children’s. I emailed the writer of this article on congenital hyperinsulinism while waiting for a miracle to happen,” Jake said.

Two days later, Jake received a phone call from a Texas area code. Dr. Thornton was on the other line, asking Jake if he and Tella would be willing to bring their newborn son to Fort Worth. “We figured if a doctor took the time to call us, he wanted to care for us,” Jake said.

After hearing from Dr. Thornton, Jake acted on impulse, desperately hoping that this was the moment that could save Brantlee’s life. Two days later, Tella and Brantlee were on a plane headed to Texas.

“They were amazed I called back so fast and how quickly we were able to arrange transport to get them here,” Dr. Thornton said.

After arriving at Cook Children’s and meeting Dr. Thornton, Brantlee was officially diagnosed with hyperinsulinism. This condition causes abnormally high levels of insulin, which can increase the risk for dangerous complications to the brain. However, fortunately for the Sanford family, Cook Children’s is one of only two hospitals in the United States with hyperinsulinism centers.

“It was really great to know that they were able to find us on the web, make contact, and get here fast so we could treat their baby,” Dr. Thornton said. Dr. Thornton is one of the most recognized hyperinsulinism specialists in the world, which made Jake and Tella feel more comfortable placing their son in his care.

“Dr. Thornton’s call was truly a sign from heaven. We put our faith to the wind and it took us to Texas,” Jake said.

After two and a half months, Brantlee was allowed to return home, just in time for the holidays.

“Since being back, we have tried our best to be a normal family, between the octreotide injections, blood sugar checks, continuous feedings from 9 p.m. to 9 a.m., and sirolimus into the G-Button.” To most, this sounds like a nightmare of foreign terminology. However, for the Sanford family, this circumstance is now a blessing.

Today, Jake and Tella can now manageably raise him from a home instead of a hospital.

“The threat of his sugars going low is still a battle for us, but thanks to Cook Children’s and his medication, we are able to raise it to where it needs to be,” Jake said.

Brantlee will return to Cook Children’s in June for a follow up appointment with Dr. Thornton.

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.

Even skilled physicians may not be on the lookout for something as uncommon as CHI in newborns, which could be the difference in preventing irreversible damage and improving the quality of a child’s life.

That may all change following an article published in the Journal of Pediatrics titled, “Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants and Children.”

Paul Thornton, M.D., medical director of Cook Children’s Congenital Hyperinsulinism Center and Endocrine and Diabetes program and an Endowed Chair, led the team of experts from around the world in creating new screening for physicians to recognize and manage neonates at increased risk for a persistent hypoglycemia disorder.

“Infants with uncontrolled hypoglycemia caused by CHI are at risk for seizures or permanent brain damage without early identification and screening,” Dr. Thornton said. “These new guidelines will help physicians who recognize these symptoms shortly after birth and then provide the specialty care which may make the difference on whether this child has a productive and fulfilling life.”

The article states that “failure to investigate a neonate, infant, or child with suspected hypoglycemia increases the risk of delaying a definitive diagnosis and instituting effective treatment.”

But quickly identifying the specific cause of hypoglycemia allows for timely and appropriate treatment to begin and decreases the risk of permanent brain injury from persistent and recurrent severe hyperglycemia.

Dr. Thornton was chosen as the principal author of the article because he’s internationally known in the field of CHI. He leads a highly skilled team of specialized physicians and supporting specialists to treat hyperinsulinism.

Cook Children’s Hyperinsulinism Center is the only one of its kind in the Southern U.S. and the second in the country.

Davelyn Hood, M.D., president of the CHI Board of Directors said her organization “is thrilled beyond words” that long-awaited hypoglycemia guidelines have been published this month in the Journal of Pediatrics.

“We consider this a sentinel moment in time for the entire congenital hyperinsulinism community,” Dr. Hood said. “Many patients born with this congenital HI are discharged from newborn nurseries without adequate study of their hypoglycemia, often with tragic consequences. These guidelines give us hope.”

Dr. Hood said she believes the guidelines will save countless lives and improve the well-being of HI children everywhere. She also praised Dr. Thornton for all of his work for CHI patients.

“He cares for children across Texas and the U.S. with one of only two dedicated Hyperinsulinism Centers in the country,” Dr. Hood said. “He speaks to clinicians around the globe about the proper management of hypoglycemia and leads HI research to better understanding of the disease and best treatment options. Most importantly, Dr. Thornton, brought the HI research community together, took all of their collective knowledge regarding hypoglycemia and its underlying causes, and articulated that into clear guidelines for clinicians of all types that care for neonates, infants and children. Dr. Thornton is a definitely a ‘CHI Super Hero.’”

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 will 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.