colton-neutopenic-and-family

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.

Share your own CHOC story

Meet more brave CHOC patients:

  • My daughter’s journey from seizures to surgery
    By Celeste P., mom of CHOC Children’s patient Camila When my daughter Camila was going through epilepsy surgery, I read stories about other kids’ success, and gleaned hope from them. As ...
  • One family, two NICU stays
    Each year, one in 10 babies in the U.S. are born prematurely. For the Cushing family, that statistic is two in two. Eleanor and Spencer’s eldest son, James, was born ...
  • From CHOC mom to CHOC employee
    “You look like you could use a good cup of coffee,” Maria would say from time to time to a tired parent at CHOC Children’s at Mission Hospital. “Oh yes!” ...

 

Leave a Reply

Your email address will not be published. Required fields are marked *