A years-long search for a diagnosis: Colton’s story

Ever since six-year-old Colton Pena was a baby, he got sick more than other kids. His parents Josh and Devon knew Colton had low immunoglobin levels and was immune-compromised, but they were determined to find more answers.

“I encourage all parents to advocate for their children,” Devon says. “If you believe there is an issue with your child, go with your gut.”

When the Pena family relocated to Orange County, Colton got horrible mouth sores. His new pediatrician ordered blood work that showed Colton was severely neutropenic. This meant that he had extremely low levels of neutrophil, a version of white blood cells, which help the body fight off infection.

His pediatrician referred him to CHOC Children’s team of pediatric hematology experts. Under the care of pediatric hematologists Dr. Loan Hsieh and Dr. David Buchbinder, Colton underwent a bone marrow biopsy to rule out leukemia, but his team still wasn’t sure why his neutrophil counts were so low.

Over the next three years, Colton’s care team worked diligently to find a diagnosis, and ultimately, a treatment plan. That time was filled with multiple bone marrow biopsies and hospitalizations for high fevers. Devon, a licensed vocational nurse, quit her job as a school nurse to care for Colton full-time.

“CHOC’s hematology team was been so great about trying to find out what was going on with Colton. There were a lot of minds working together to figure out why his immune levels would be low, then level out, then go back down,” Devon says.

Josh, a police officer, likens the doctors’ work to detectives working to find a break in a complicated investigation.

“We got to the point where we just wanted to know if it was good news or bad news. That way, we would know how to help him,” Josh says.

colton-pena
Colton during a stay at CHOC Children’s Hospital.

Colton should be in first grade, but due to health issues he missed so much school last year that he is repeating kindergarten.

“Last year, Colton was at CHOC more than he was home,” says Devon. “We came weekly to check his neutrophil count and for other appointments, anytime he spiked a low-grade fever we had to visit the Emergency Department to check his neutrophil, and he was hospitalized more than five times.”

Colton struggled emotionally with his illness, so his hematology team referred him to CHOC psychologist Dr. Cindy Kim.

“I could see his anger related to his illness, and he was having a hard time coping with the recent death of his grandfather,” Devon recalls. “I felt especially with my medical background it was important for him to talk about it. Sometimes it’s hard to talk about your feelings with a parent.”

For a few months, Colton and Devon met weekly with Dr. Kim as he learned to work through the anger and emotions.

Colton tried bone marrow stimulant injections to try and help his body make more neutrophil. When that didn’t work, his hematology team suggested genetic testing.

The results identified a rare variant mutation in Colton’s genes. This particular mutation is a recent discovery and more research is needed to fully understand its scope.

Armed with the results of Colton’s genetic testing, Dr. Buchbinder started Colton on infusions of immunoglobin—a protein in the body that plays a role in supporting the immune system. Immunoglobulin therapy is used to decrease symptoms of a number of autoimmune disorders.

Ever since starting these infusions, Colton has been like a different kid, Devon says. He’s only been hospitalized once, he’s able to attend school regularly, and he only needs to visit CHOC monthly for lab work. Since his immune system is healthier, his parents feel more comfortable letting him play outside, his favorite hobby.

colton-baseball
Now that he is much healthier, his parents feel more comfortable letting him play outside, his favorite hobby.

Dr. Buchbinder gave Colton’s family the option of coming to CHOC monthly for infusions or doing them weekly at home. Given Devon’s background in nursing and her history of caring for children with autoimmune disorders who needed similar injections, the family opted for at-home infusions. A home health nurse provided training, and now Devon administers Colton’s infusions every Sunday afternoon.

“Colton’s whole motto is ‘Be brave, show courage.’ His bravery has made my journey as a parent and caregiver so much easier. I’ve never had to deal with his fear or worry,” Devon says.

Colton, pictured here with dad Josh, has a motto: Be brave, show courage.

Throughout his journey, Colton has become an advocate for giving back to other kids at CHOC. He organized several fundraisers to purchase bright, lively hospital gowns so that other patients could wear their favorite theme or animal. He’s even participated in magic shows to spark joy among other patients.

Last Christmas, Colton told his parents he didn’t want to ask for too many gifts, so that he could donate more toys to kids at CHOC.

“Colton has the kindest heart. He loves helping other kids who are sick and helping make their day,” says Devon. “Giving back has been something that has redirected his own feelings into something positive.”

Josh’s colleagues at Huntington Beach Police Department, inspired by Colton’s bravery and commitment to help others, have supported his fundraising efforts. Officers organized fundraisers to help Colton purchase more unique hospital gowns and organized a toy drive to benefit CHOC patients hospitalized over the holiday season.

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Caring for Patients With Sickle Cell Disease

In honor of National Sickle Cell Month, we spoke to Dr. Geetha Puthenveetil, a pediatric hematologist and director of blood and donor services at CHOC Children’s, about the multidisciplinary care and other resources available to patients with sickle cell disease at CHOC.

sickle cell disease
Dr. Geetha Puthenveetil

Q: What is sickle cell disease?

A: Sickle cell disease is an inherited disorder wherein the red blood cells are misshapen. Instead of their standard round shape, the red blood cells are shaped like sickles, or crescent moons. This can lead to painful episodes and even hospitalization when these misshapen red blood cells get caught up in small blood vessels when they try to carry oxygen to different parts of the body. Sickle cell disease is usually diagnosed at birth during newborn screening tests.

Q: How do patients with sickle cell benefit from CHOC’s comprehensive red cell clinic?

A: I started this clinic for patients with a number of red cell disorders—including sickle cell disease, thalassemia, aplastic anemia, and Diamond-Blackfan Anemia. The clinic is attended by a cardiologist, endocrinologist, and hematologist and provides comprehensive care for patients.

Our multidisciplinary clinic offers continuity of care and expedited service for patients and families that they don’t find elsewhere. Since their entire care team is in one place, families can get more immediate answers to their questions. All members of the team are involved in creating the care plan for how best to treat each patient.

Q: What should parents know about the hematology program at CHOC?

A: Along with other centers, we are a part of a growing number of clinical trials to decrease pain crises in patients with sickle cell, and their amount and length of hospitalizations. We are also part of international study looking at standards of patient care.

Patients can also benefit from neuropsychology evaluations. Our pediatric neuropsychologist is specially trained in working with patient with sickle cell disease, and can help evaluate if their medic al condition is affecting their cognitive functioning, and lay the groundwork for treatment.

We also offer a support group for families of patients with sickle cell. Families who are new to their diagnosis or our program have the opportunity to be mentored by more experienced families who can relate to what they’re going through. This group is open to all caregivers of our patients, from teachers and principals to babysitters and day care operators, who are interested in learning more about sickle cell, and what they can do to offer better care.

Q:  What aspect of pediatric hematology/oncology are you most passionate about?

A: No two patients are alike. Each and every sickle cell patient has their own challenges and battles, and each requires a unique strategy. As a hematologist/oncologist, you need to constantly think outside the box.

Despite all the health challenges my patients are facing, they always keep me laughing. In pediatrics, you’re not just treating the child, but the whole family. It adds to the challenge of providing care, but it’s essential to engage their entire environment in order to create the best outcomes for them.

Q: What impact do blood donors have on patients with sickle cell?

A: Blood donors are of utmost importance, and they are crucial for patients with sickle cell disease. Sickle cells have a shorter life span than normally-shaped cells, which can lead to anemia, or a low red blood cell count. Our patients depend on the generosity of blood donors.

Patients with sickle cell can develop antibodies after their great number of transfusions, so our team is focusing on red blood cell genotyping, so we will be able to more closely match them to specific and regular blood donors. Our ultimate goal is having patients develop fewer antibodies because they’d be better matched with their donor at a gene level.

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Living with Hemophilia: Nick’s Story

Nick Carebetta is an active 31 year old.  When he’s not busy managing a restaurant, he’s surfing, running or hiking.  The athlete has completed numerous half marathons and three Spartan races.  To friends and family, he’s the picture of perfect health.  In fact, people may be surprised to know Nick has hemophilia A.

A disease that prevents blood from clotting properly, hemophilia A is caused by a deficiency of a clotting protein called factor VIII.  Nick’s case is considered severe.  Patients like Nick bleed longer after an injury, and may have frequent spontaneous internal bleeding episodes in their joints and muscles.

Diagnosed with the disease when he was 3 months old, Nick experienced several bleeding episodes in his left ankle.  The pain and inflammation impacted his mobility, which left him dependent on crutches for much of his childhood.

When he was 13, he underwent a procedure called radioactive synovectomy. A small amount of Yttrium, a radioactive material, was injected into Nick’s ankle to reduce the number of cells in the joint lining.  This reduction leads to decreased inflammation, and hopefully less pain and more movement.  Yttrium is used due to its low radioactive energy levels and its ability to leave the body quickly. Nick had the procedure performed twice.  About four months after the second injection, Nick’s bleeds stopped; his pain dissipated; and his mobility returned.

Today, Nick manages his disease with help from CHOC Children’s hematology team.  During his annual check-ups, he meets with a physician, physical therapist, psychologist and nurse coordinator.

“I am so impressed with the compassionate and comprehensive care I receive at CHOC.  From the physicians, who are highly regarded in their field, to the psychologists, who care about my mental well-being, the entire team is dedicated to making sure their patients live happy, healthy and fulfilling lives, despite their disease,” says Nick.

Living with hemophilia

There is currently no cure for hemophilia.  Treatment includes clotting factor replacement therapy.  Nick gives himself shots of a clotting factor, called factor VIII, three times a week.  Depending on his level of activity, he may adjust his dose.  He also follows instructions from his CHOC care team to preserve his joint mobility and core muscle strength.  He doesn’t let his treatment or his disease interfere with his life.

“Nick is setting an example for all of our patients that hemophilia does not define who he is.  He chooses to be more,” says Dr. Amit Soni, CHOC hematologist.  “In addition to his active lifestyle, he is passionate about theater and the arts, and is leading the restoration effort of a historic theater.  He’s also incredibly altruistic in his efforts to give back to the community, whether through participating in clinical trials to advance hemophilia care for the next generation to raising money by joining in the CHOC Walk.”

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Clotting Disorders

girl in the hospitalClotting and Bleeding Disorders
“A clotting disorder can mean that your blood doesn’t clot enough, or it may clot too much. Both can cause medical emergencies. Too much clotting in a blood vessel in your head can cause a stroke, even in a young child,” says Dr. Nugent, CHOC pediatric hematology specialist. “Alternatively, not enough clotting results in a bleeding disorder, like Von Willebrand disease which is common, occurs in about 1 in 100 people, and affects boys and girls. Boys tend to get frequent nosebleeds and bruising when they are younger and girls can have a problem with heavy menstrual periods that can make them anemic.” Von Willebrand disease is the most common bleeding disorder in the U.S. affecting both men and women, while hemophilia is a well-known X-linked genetic bleeding condition affecting primarily boys.

Treatment at Home
Many children with clotting and bleeding disorders are diagnosed as babies and can be successfully treated at home. The clotting protein or factor that they are missing in their blood can be produced by genetic engineering and concentrated in a small vial, so patients can get an intravenous infusion. This treatment corrects the defect for several days so the children can participate in normal activities without fear of bleeding, Dr. Nugent says. “Family education is critical with all bleeding and clotting disorders. Families should know how to treat their child in all situations if there is a problem. We want families to know more than most doctors know about their child’s rare bleeding disorder. We want to empower patients to be independent and knowledgeable so they can regularly treat themselves at home to prevent bleeding.”

Helping the Family
Dr. Nugent says it’s common that young patients with bleeding or clotting disorders will have other family members — both other children and adults — who have a hereditary blood disorder that has never been diagnosed. Help is available, she says. “If you or someone in your family may have a blood or bleeding disorder and it’s a child, contact CHOC. Adults should call the Center for Inherited Blood Disorders next door to CHOC.
The website is c3dibd.org or they can call 714-221-1200.”

Fast Facts

  • Estimated Number of Hemophilia Patients in the U.S.: 20,000-25,000
  • Number of Americans who die each year from abnormal blood clots: 600,000+

View the full feature on Kids and Clotting Disorders

Dr. Nugent
Dr. Diane Nugent
CHOC Pediatric
Hematology Specialist

Physician Focus: Dr. Diane Nugent

Dr. Nugent is a nationally recognized expert in pediatric hematology. Her clinical and research interests include blood disorders, bone marrow failure, bleeding and clotting disorders, and white cell and immune deficiencies. Dr. Nugent is Chair of Hematology and medical director of the Blood and Donor services at CHOC Children’s, as well as the Hematology Advanced Diagnostic Lab. Dr. Nugent completed her residency and internship at Denver Affiliated Hospitals in Denver. Dr. Nugent received her fellowship training at Children’s Hospital Medical Center in Seattle and the Fred Hutchinson Cancer Research Center in Seattle.

Dr. Nugent’s philosophy of care: “I take a family-centered approach and educate families to help them understand what they have and how to care for it. The family is key for the diagnosis, treatment and education, and optimal outcomes. I want them to be empowered and independent.”

EDUCATION:
David Geffen School of Medicine at the University of California, Los Angeles

BOARD CERTIFICATIONS:
Pediatrics
Pediatric Hematology-Oncology

More about Dr. Diane Nugent

This article was featured in the Orange County Register on July 28, 2014, and was written by Amy Bentley.

Treating Hemophilia Today and Tomorrow

Much has changed in the ways of treating hemophilia – an inherited bleeding disorder in which a patient’s blood does Hemophilia_CHOCnot clot properly – and even more changes are on the horizon, says a CHOC Children’s hematologist.

“Within just the last 20 years – one generation – is when we began having factors to treat the patients with hemophilia,” says Dr. Diane J. Nugent, chair of hematology and medical director of hematology and Blood and Donor Services at CHOC Children’s. Dr. Nugent also is the medical director of the Hematology Advanced Diagnostic Lab.

Today, hemophilia is treated by replacing the missing blood clotting factor so the blood can clot properly. This is done by administering factor concentrates into a vein. Today, patients can perform these infusions themselves at home to prevent and stop bleeding episodes and enjoy a better quality of life, she says.

“Thanks to therapy, kids can play sports, attend school like any other child and live a full and complete life,” Dr. Nugent says. “Just a generation ago, by the time they were adults, patients with hemophilia were disabled. Today’s treatments are safe and lots of people can do this at home with no problems. This gives the patients more independence.”

Those with hemophilia are typically treated twice a week at home, but new treatments for some patients reduce the frequency. Some patients can now treat themselves as little as once a week because of a new long-acting factor to correct their bleeding.

A new long-acting product called Alprolix treats about one out of six patients who have a type of the condition called hemophilia B. In addition, a long-acting factor for different but common type of hemophilia will be coming out soon as well, Dr. Nugent says.

“Long-acting factors for hemophilia patients will reduce the frequency of IV pokes and will greatly improve their quality of life because now they will only need to treat themselves once a week,” she says.

Because hemophilia is a genetic disorder, specialists hope the condition will one day be corrected through gene therapy.

“Those genetic trials are ongoing at Stanford University and starting with adults,” Dr. Nugent says “We hope that will trickle down to kids in the next decade.”

According to the Centers for Disease Control, the median age in the United States for diagnosis 3 for those with mild hemophilia, 8 months for those with moderate hemophilia, and 1 month for those with severe hemophilia. In most cases, there is a family history of hemophilia.

CHOC always needs new donations of blood and platelets to help patients with hemophilia. To donate blood or platelets, call 714-509-8339 or email donatebloodforkids@choc.org to make an appointment.

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