Corbin Finds Hope After a Late Diagnosis for Rare Liver Condition

For Brittany, the warning signs started shortly after Corbin was born. As a newborn, Corbin was jaundiced, which his doctor dismissed as nothing serious to worry about, assuring Brittany it would go away over time.

But that didn’t prove to be the case. Instead, month after month, Corbin’s sallow skin and flaxen-colored eyes kept Brittany on high alert: “I thought, ‘I’m a first-time mom, yes, but this doesn’t seem right.’” 

As a pediatric nurse, Brittany worried about Corbin’s liver and repeatedly requested lab work to ensure it was functioning as it should. Each time she brought up her concerns, though, Corbin’s pediatrician would brush them away, telling Brittany she should try getting Corbin more sunlight or incorporating formula into his diet.

When Corbin was 3 months old, Brittany’s maternity leave ended, and her second day back at work happened to be Christmas Day. When she got home, she found out that Corbin had been fussy all evening and wouldn’t stop crying. After giving him a bath, Brittany put him to bed and went to sleep herself. Four hours later, she woke up suddenly, realizing he hadn’t woken up for a feeding.

“I nursed him, and he vomited,” Brittany said. “He also had a fever.”

Brittany decided to forego the doctor’s office and drive Corbin straight to the emergency department (ED) at Cincinnati Children’s.

A Trying Time

Brittany told the providers in the ED that Corbin was jaundiced, lethargic, projectile vomiting and refusing to eat. Lab work—the blood tests Brittany had been asking for to check Corbin’s liver function—came back, and they were “all horrible,” Brittany said, adding, “Horrible to the point where they thought the sample was contaminated and they had to redraw his blood.”

Around midnight, Brittany left Corbin’s room to use the restroom. When she came back, she saw his heart rate had plummeted to the 50s. (A typical heart rate for a 3-month-old is around 140 beats per minute.)

“At that point, I knew Corbin likely had bleeding in his brain,” Brittany said.

A CT scan confirmed the brain bleed, and a team rushed Corbin to the intensive care unit (ICU), starting medications to stabilize his liver function so a neurosurgeon could perform surgery to relieve some of the swelling.

“It was a big bleed for a 3-month-old,” Brittany said. “We later learned it had affected his frontal lobe, which is responsible for speech, emotions and mobility. And we learned the bleeding in his brain had been going on for some time, which was frustrating, to say the least.”

Following the surgery, Corbin began suffering from seizures. Brittany told her son’s team that she and her husband, Daniel, had decided that if Corbin didn’t begin improving soon, they wanted him to be at peace.

“It was such a trying time,” she said. “It was so hard for me to be both a mom and a nurse.”

Two days later, though, Corbin started showing signs of improvement. He wasn’t seizing anymore, and he was breathing on his own and looking around—even moving weakly, despite his sedation. Corbin’s parents saw some hope and clung to it.

Still, Corbin wasn’t out of the woods. Once he was discharged from the ICU, he began seizing again and suffered another brain bleed, resulting in several more brain surgeries.

Getting a Diagnosis

By the end of February, Brittany and Daniel finally learned what was causing their son’s illness: a rare genetic liver condition called progressive familial intrahepatic cholestasis (PFIC). Children with PFIC inherit a gene mutation that makes them unable to drain bile from the liver. When bile builds up in liver cells, it can lead to jaundice, severe itching and an inability to absorb nutrients from food. 

Complicating matters, Corbin’s type of PFIC—known as PFIC type 4 or TJP2 deficiency—was even rarer than most.

“When we learned of his diagnosis, Daniel and I were told only two other people in the world had PFIC type 4, and no one else with PFIC had survived a brain bleed,” Brittany said. “So, really, he was the only one with a disease that no one really knew much about.”

Kathleen Campbell, MD, medical director of Cincinnati Children’s Liver Inpatient Unit and now Corbin’s primary liver doctor, confirmed how rare PFIC type 4 is. “When I search the literature,” she said, “which I do almost every time I see Corbin in clinic, there is very little information published about this type of PFIC.”

To help them understand more about their son’s condition, Brittany and Daniel attended a conference last year on the topic of PFIC. Afterward, Brittany told Dr. Campbell they were the only people of color at the conference. “It makes them feel very alone when they already acutely feel the lack of data on this form of their son’s disease,” Dr. Campbell said.

Corbin has been seeing Dr. Campbell for about a year now, ever since he went to the hospital with electrolyte levels that were abnormal. In particular, his sodium levels were low, leading to another diagnosis: diabetes insipidus (DI), a rare condition that causes extreme thirst and the body to produce too much urine. Corbin’s care team believes the condition was caused by his past brain bleeds.

“They think the bleeding damaged the part of his brain that produces the antidiuretic hormone,” Brittany said. “It causes him to have to urinate constantly.”

Dr. Campbell says she’d heard of Corbin long before she met him: “His story was well known to everyone on our liver team. He’d had a very dramatic presentation with PFIC, and I’d heard murmurings long before I had the pleasure of meeting him or his parents, who are some of the kindest people I’ve ever met.”

Having Dr. Campbell as Corbin’s primary liver doctor has “been a blessing,” Brittany said. “I can trust her, and she listens to me, which I appreciate.”

“Unflappable” Advocacy

Now 3, Corbin hasn’t been admitted to the hospital in two years. While he regularly visits for appointments with speech, physical and occupational therapy, he’s “a ball of fire and super smart,” Brittany said. “He’s potty trained. He’s going to preschool. And, while he’s about a year behind in terms of delays, when I consider I once thought he wasn’t going to make it—I’ll take it.”

Dr. Campbell says Corbin’s doing “very well,” particularly in terms of how he’s responded to new medications to help with itching (one of the most debilitating symptoms of PFIC) and with his nutrition, which often can be a significant barrier for children with the condition. She considers Corbin’s parents members of her team.  

“They’re unflappable,” she said. “Their advocacy for Corbin is just unmatched. They’ve helped us get Corbin healthy and to where he is today.”

Because of the strides Corbin’s made, in fact, Brittany said she’s now ready to pay it forward.

“Corbin has definitely been a research kid,” Brittany said. “And now that we’re in a better place, I want to help others in any way I can.”