Daniel was born with beta thalassemia major, a genetic blood disorder that prevents his body from producing healthy, functional hemoglobin.

“His red blood cells can't carry oxygen, so every 21 days, we come here for what we call a ‘refill’ for him to get about two units of donor red blood cells,” said Allison Wendler, Daniel’s mom.

For six to eight hours the infusion center becomes Daniel’s playground.

“He gets to play Roblox most of the day. He also gets to play on the Xbox and the PS5,” said Allison. “Steve, the therapy dog, comes a lot of times on Friday, and we love visiting with Steve.”

Timothy L. McCavit, M.D., MSCS, a pediatric hematologist at Cook Children's, has treated Daniel since he was adopted seven years ago. He has watched Daniel grow and thrive thanks to blood donors.

“Regular access to blood allows him to be a normal child,” said Dr. McCavit.

Each transfusion Daniel receives comes from donors through Carter BloodCare. Behind every unit of blood, there is a donor with a unique story.

On Tuesday, for the first time, Daniel and his family met some of the people who help keep him alive.

Two Parallel Journeys, One Perfect Match

Jeff Noble has been donating blood for the past six years. His own medical diagnosis requires him to do so.

“I have too much iron in my blood,” said Noble.

Noble was one of six donors who attended a special celebration for Daniel hosted by Carter BloodCare. The surprise reveal allowed Daniel’s donors to see the real-world, daily impact of their selflessness.

“Daniel would not be alive today if it weren't for donors,” said Allison.

Because of Noble and donors like him, Daniel doesn’t just survive; he thrives. He recently attended basketball camp and won the game ball for playing the best offense and defense.

Dr. McCavit hopes Daniel’s story encourages others to donate and lead community blood donation drives.

“Because the need is never ending,” said Dr. McCavit.

A Critical Shortage

Carter Bloodcare reports it is currently experiencing a critical blood shortage, with less than a single day’s supply of certain blood types on the shelves.

Dr. McCavit encourages anyone who is able to donate, noting that it’s a quick and easy process.

“I donate regularly, so I absolutely try to put my money where my mouth is in terms of encouraging people to donate,” said Dr. McCavit.

Cook Children’s utilizes blood transfusions for its most vulnerable patients, from premature infants weighing less than two pounds to teenagers. Dr. McCavit explained that blood transfusions are used in a variety of settings from the intensive care unit, operating rooms, the emergency department, and for children undergoing treatment for cancer and other blood disorders.

Fast Facts on Blood Donation:

• One donation can save up to three lives.

• Every 2 seconds, someone needs blood.
• Only 3% of eligible Americans donate blood.

To Donate visit Carter BloodCare.

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.

Bel knew the hallways of Cook Children’s well. Born with a medley of complex medical diagnoses, she spent much of her life in and out of the hospital for ailments, procedures and tests.

In May 2016 after months of stridor (a wheezing sound caused by disrupted airflow), croup and pneumonia, Bel’s mother Vicki and father Jess Coonrod discovered a mass in Bel’s nostril. A biopsy confirmed a diagnosis of non-Hodgkin’s Lymphoma Diffused Large B-cell.

“When she was diagnosed with cancer it was heartbreaking,” Vicki said. “She asked us if she was going to die. So we had a long talk. After that conversation she said, ‘I’ve beat other stuff, I’ll beat cancer too.’”

As hard as she fought, Bel lost her battle with cancer at 6 years old. She died unexpectedly from pulmonary hemorrhaging on Feb. 17, 2018.

Throughout her young life, Bel seemed on the verge of victory against her disease. After learning of her diagnosis, she immediately began treatment. However, the cancer began to manifest itself in Bel’s mouth and lymph nodes, which left her with a whisper. Bel continued to fight alongside her family and friends at the medical center, and was deemed cancer-free in August 2016.

No sooner did Bel beat cancer, was she diagnosed with a common variable immune deficiency called B-cell Blood Disorder less than a year later in June 2017. It was another diagnosis that caused her cells to mutate and crowd together under her skin and on her organs. She began a clinical trial and was able to receive one of three scheduled doses. Her parents learned after her death that the trial was successful, and Bel was free of the disorder.

Bel’s life was full of obstacles, but she didn’t let any of this phase her. She was known as the “itty bitty girl with a great big spirit”, and had an even bigger will to give back to others.

Bel was born with club feet, bilateral radial dysplasia (shortening and directional deviation of the arms) and missing thumbs. She contracted bacterial meningitis as a 1 year old, which led to the diagnosis of pituitary dwarfism. Her little sister, Clar, was born shortly after and both were diagnosed with Ruthmond Thompson Syndrome, causing a compromised immune system that puts them at a higher risk for cancer.

“Bel was a medical child her whole life, which meant she was in and out of the hospital her whole life,” Vicki said. “We’ve faced lots of battles with her. She had been so sick leading up to the diagnosis, so it was just going into the mode of ‘do what we have to do to overcome this.’”

Despite the diagnosis, Bel held onto her contagious smile and her love for others. She could always be found welcoming new patients into the playrooms of the medical center. She continued to donate her birthday gifts to other patients, and held drives of her own to bring in donations for the oncology floor.

In May 2018, Bel’s parents and her younger sister founded Bellanne Butterfly Blessings as her legacy, which carries on her wish to “spread kindness by blessing others. Her memory is ingrained by her family’s will to continue to serve the community and the patients at Cook Children’s.

Their organization collects donations for specialty care packages for patients and families on the oncology floor. The Coonrod family’s own experiences and memories of the unit sparked inspiration for care package needs that patient families typically go without.

“It started out as our way of healing. As we’ve seen it develop, it’s become our way of serving,” Vicki said. “There were so many times when we were blessed by others on the oncology floor.”

Although they aren’t in the medical center as much as they were when Bel was here, Vicki, Clar and Jess continue to make their rounds, giving comfort items to patients and families along the way.

“To know that we are helping other people just like Bel did is a gift,” Vicki said. “It’s been a lot of work but it’s been so healing.The 24/7 fever, appointments and everything else at the medical center; we still have a purpose.”

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.

Planning and gear is necessary when setting off for a day of water fun, but for kids with diabetes it can sometimes feel like an Everest expedition. Their checklist can include any or all of the items below:

●Blood glucose meter

●Supplies to check blood sugar

●A cooler or ice packs to keep insulin cool

●Insulin

●Insulin injection supplies

●Insulin pump supplies

●Snacks for low blood sugars

Children and their families with Type 1 diabetes deal with additional risks on top of the typical worries that all families deal with. Some diabetes specific risks include:

●Low blood sugar

●Dehydration

●High blood sugars

●Ketones

The wisdom and experience of a parent of a child with Type 1 diabetes adds more practical value. I discovered this article on swimming with Type 1 diabetes.

I reached out via Twitter to the mom and author of the article. As the mother of two girls with Type 1 diabetes, she had a lot of good, practical advice, which I endorse and would give to my own patients.

I know it helps to here from other moms. Here are some of the thoughts and tips that she shared about her now older girls.

Importance of swim lessons

My girls passed all of their swim lessons and have reached the level that will safely take them into adulthood ... I still tend to hold the book and scan the water until both are safely drying off on my blanket. Once a mom, well, always a mom.

“Managing” blood sugars

Despite this natural maturity and necessary growth, our family is still cautious with Type 1 diabetes and swimming. We know that blood sugar management during exercise can be tricky on a good day, let alone, on a day of intense swimming, where every single muscle is engaged and active.

Here is a list of strategies that we use to help keep teenager independence while staying healthy with Type 1 diabetes.

1.Check blood sugar before you go into the water.

2.Blood sugar MUST be above 100 mg/dl.

3.If not, BEFORE swimming, eat a small protein and carb snack and do not bolus. Our girls like re-sealable chocolate milk jugs, cheese and crackers or small peanut butter and jelly sandwiches.

4.Swim with a buddy and never alone.

5.Every hour, get out of the water and check blood glucose.

6.If blood sugar is rising, which often happens due to adrenaline during exercise, reconnect the pump and take ½ of the recommended bolus amount. This also helps to avoid ketones from lack of insulin.

7.Stay hydrated. Even if you feel like you are not thirsty, drink 8 ounces of water each time you are checking your blood sugar.

8.Always bring money. If you find yourself eating through snacks, be prepared to purchase carb-laden food from the snack machine or beach shack. This happens more often than not, so I stress this often!

9.Be prepared for lows that might happen an hour or two after leaving the water. With T1d, it’s not just the first event (swimming), but the second, third and fourth events that need proper planning. For that reason, always tuck in more glucose, more meter strips and extra supplies than you think you might need. Chances are, you will need it!

I hope this article was helpful and makes for a better water safety experience.

My gratitude to naturallysweetsisters.com for sharing.

The first way is to prepare your child for the doctor’s visit. Studies show that children are less anxious for a doctor’s visit or medical procedure when they are informed beforehand. Honesty is the best policy when preparing a child for a blood draw, but it is important to use child friendly words.

Bringing a favorite toy or stuffed animal to the clinic can help. Familiar items help children feel safe and less anxious.

At the clinic it is important for you to stay cool, calm and collected. Children feed off of their parent’s emotions and an anxious parent could very easily make for an anxious child.

At Cook Children’s tips for preparation and comfort can be provided by the Child Life specialist on staff. Child Life specialists use their knowledge and background of child development to help practice successful distraction techniques and coping strategies. Comfort tips can be provided by the Child Life specialist to help with the blood draw such as comfort positioning, distraction and child friendly explanations.

Praise goes a long way. It is so important to support your child and provide encouragement during the blood draw and afterwards. Choose specific skills to praise such as, “You did a great job of holding still” or “You took good deep breaths.” Try to avoid any negative comments such as “Don’t cry” or “Be a good girl/boy” because it’s perfectly normal for a child to be nervous or anxious about a blood draw. Instead, validate your child’s feelings by saying, “That was hard, but you did a great job by holding your arm still.”

For more information on how you can help your child cope with blood draws, hospitals or clinic visits, you can read these resources:

http://childlife.org/files/PowerParentsTipSheet.pdf

http://childlife.org/files/ComfortMeasuresandTips.pdf

About the author

Laura Sonefeld is a Child Life specialist at Cook Children's. Our Child Life staff members recognize that hospitalized children still need opportunities to just be kids. They help children and families cope with a hospital experience by providing emotional and developmental support, giving honest information geared to the child's level of understanding and providing fun activities. The Child Life team works with medical and support staff to create a warm, child-friendly environment.