PI4KA chromosome abnormality and a 22q11 deletion 

When Anders was born in 2022, his mother, Amber, knew something was wrong. He was lethargic, had difficulty gaining weight, and was diagnosed with "failure to thrive." His first year was marked by multiple hospital stays as the family searched for answers.

At just 3 months old, Anders was hospitalized with Pneumocystis pneumonia and cytomegalovirus (CMV). These infections typically appear in individuals with immune disorders or other serious underlying conditions. CMV is particularly dangerous for those with weakened immune systems. The severity of the virus raised concern among doctors, prompting a deeper investigation.

A series of genetic tests ultimately led to a diagnosis when Anders was 8 months old. He had a rare chromosomal abnormality in the PI4KA gene and a 22q11 deletion. Mutations in the PI4KA gene can affect brain function, digestion and immune health, significantly impacting overall development.

“The first three months were very scary,” Amber said. “We didn’t know if he was going to make it to a diagnosis because he was so critically ill. When the diagnosis came, there was a mixture of relief and confusion. We were relieved to have answers but confused because the condition was so rare. There weren’t many cases to research.”

Doctors warned that a bone marrow transplant might eventually be necessary, although there were no known cases of the procedure being used to treat a PI4KA mutation at the time. The team hoped to avoid that option if possible.

Anders’s chromosomal abnormality had thinned the epithelial tissue in his small intestine, making it difficult for him to absorb nutrients, even through a feeding tube. He continued to struggle with weight gain.

Doctors pursued multiple treatment plans in an effort to delay or avoid the transplant. First, they tried an antiviral drug to treat CMV. When the drug failed, they turned to adoptive T cell therapy, a trial treatment using T cells from another CMV patient to boost Anders’s immune response. That also was unsuccessful.

One final drug was administered to jump-start his T cell function. When that approach failed, it became clear that a bone marrow transplant was the best and only option.

“I knew this was the best thing for my son, but there wasn’t a lot of research,” Amber said. “We were really taking a chance on it, but I knew without it, he wouldn’t have a future.”

Fortunately, doctors had already begun searching for a donor and found a match by April.

“I’m so thankful for our donor, because without him, my son wouldn’t have a future,” Amber said. “We would probably still be in the hospital. I have two children, and because of the donor, I no longer have to choose between staying at the hospital with one child or being home with the other.”

At 18 months old, Anders received his bone marrow transplant. He underwent five days of a chemotherapy variant targeting his T cells. He then received the transplant through a central line while being held in his parents’ arms.

This marked not only a successful transplant but also the first recorded attempt to treat a PI4KA mutation with a bone marrow transplant.
Although Anders experienced side effects from chemotherapy and continued gastrointestinal challenges, his health began to improve earlier this year.

“He’s just started to develop his personality over the last few months,” Amber said. “He was so sick for most of his life that it was hard to know who he is and what he’s like. But he’s so funny. He loves music, he loves to dance, and he tries to sing along to everything.”

PI4KA was not the only diagnosis Anders received at 3 months. Routine hearing tests revealed mild to moderate hearing loss. By 8 months, he was bilaterally deaf. Although ear tubes were placed, his ear, nose and throat team postponed cochlear implants due infection risks.  

“I’m so grateful to our ENT,” Amber said. “There was a holdup getting through transplant, but after that, they worked so quickly to get him bilaterally implanted. Because of that, he has developed so much over the last few months. It's been a huge milestone in his growth.”

Now, Anders is reaching new developmental milestones. He’s signing more than ever and has a vocabulary of 30 spoken words. Amber, who served as his full-time caregiver, is preparing to return to her role as a special education teacher this fall.

“A bone marrow donor changed our lives,” she said. “We are finally starting to get back to normal.”