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In 2016, Brian Gurule was told he had just months to live. The married father of two from San Diego was in liver failure. The news that he would die if he didn't receive a liver transplant was coupled with the revelation that Brian's liver disease was caused by a rare genetic condition he'd never heard of. It's also one most health care providers don't ever encounter.
Called dyskeratosis congenita, Brian's disease was the source of numerous infections, hospitalizations and medical problems throughout his life. The condition, also known as a telomere biology disorder, is a complex multisystem disease that affects cells' ability to reproduce and regenerate. The illness can cause liver disease. In Brian’s case, the liver disease also was complicated by hepatopulmonary syndrome — a severe defect with the way oxygen is transferred into the blood.
After finding out about the liver failure and dyskeratosis congenita, the news only got worse for Brian. His wait for a new liver in San Diego likely would be two years. He didn't have that long.
A search for alternatives led Brian to Mayo Clinic, and in May 2017, he received a new liver. It was the first time surgeons at Mayo Clinic's Florida campus had performed a liver transplant on a person affected by dyskeratosis congenita.
Today, Brian's outlook is much brighter. Although he continues to live with his disease, the experience of going through a transplant has altered his approach to life.
"You talk to any person who's had a transplant, and they say you're not the same person anymore," Brian says. "Your whole outlook in general is different. I went from not expecting to live to going back to work in the next few months. It's kind of a big change."
From the time he was a teenager, Brian dealt with health issues. At 18, he was diagnosed with avascular necrosis in his hip joint. His blood counts were low, and Brian was classified as having aplastic anemia. He had a hip replacement at 22. Throughout his 20s and 30s, Brian was healthy, for the most part, but he acquired infections like pneumonia easily. And as he aged, he got winded doing routine tasks. On occasion, he would pass out without explanation.
"Once I passed out at work and woke up in an ambulance," Brian says. "I had issues where my wife would take me to the ER, and I'd be in the hospital for three to four days, and they still didn't figure it out."
Brian also was hospitalized after a mugging and a motorcycle crash. His hospitalizations and recoveries seemed to stretch on longer than typical patients. During one hospital stay, a scan of Brian's abdomen revealed that his liver seemed to show signs of cirrhosis, but no follow-up was recommended.
In fall 2016, Brian hurt himself while helping a friend jump-start a truck. Brian's truck had been outfitted with large off-road tires. To access the engine, he had to climb up onto the truck's wheels. As he jumped down, he fell, hit his head and started bleeding. After a short time, the bleeding stopped. It seemed insignificant, he says. He went home and showered.
"I stared feeling funny in the shower, and I got out," he says. "I started walking toward the bed, and I hit the ground. I couldn't breathe."
In the hospital, Brian was found to have a critically low level of oxygen in his blood. Healthy blood oxygen levels are in the upper 90s. Brian's levels were in the 50s. He started having seizures. The lack of oxygen to vital organs also put Brian at risk for heart and kidney failure.
During his hospitalization, doctors determined Brian's did not have liver cirrhosis. Rather, he had a condition called noncirrhotic portal hypertension, an increase in blood pressure in the veins in and surrounding the liver.
"I was in the hospital for 10 days," Brian says. "They were doing pulmonary test after pulmonary test. Then they started figuring this out. They found my liver was in full failure and was causing hepatopulmonary syndrome. They did a biopsy and told me I needed a liver transplant."
That's when Brian realized that the wait for a transplant likely would be longer than his current life expectancy. He needed another plan.
"The hepatopulmoary syndrome would kill me before the liver would be available," Brian says.
Then Brian learned that some medical centers in different regions of the country had shorter wait lists due to the availability of donor organs. His physician in San Diego, who had previously been on staff at Mayo Clinic, suggested Brian request an evaluation at Mayo Clinic's Florida campus.
In April 2017, Brian and his father flew to Jacksonville, Florida, where they met with a team of transplant specialists, including Maria Yataco, M.D., a transplant hepatologist. At Mayo, Brian had a series of tests to evaluate his health. After that, he was accepted into Mayo Clinic's Liver Transplant Program. On May 22, Brian was placed on the transplant waiting list. Just 11 days later, on the morning of June 2, he received the call he was waiting for. A liver was available.
Getting to a medical center where he could receive a transplant wasn't Brian's only hurdle to clear. He still needed to better understand the underlying condition that was triggering his medical issues.
Shortly after Brian's medical team in San Diego had determined he needed a liver transplant, they also had begun connecting the dots between his years of health problems.
"I had one doctor who said she didn't think I had aplastic anemia. She thought something else was going on," Brian says. "She said, 'I don't know for sure, but I'm going to run a genetic test.'"
That test revealed Brian had dyskeratosis congenital, or DC — a rare, genetic condition that affects less than 1 in 1 million individuals. The condition stems from issues with telomeres, the genetic component of DNA responsible for cellular aging. In 2016, when Brian received his diagnosis, his physician relayed information she'd gathered online, but she couldn't offer much more.
Brian says that because no one else with his condition had ever come before the hospital's liver transplant review board, he was initially denied a transplant.
Brian's situation was so rare that only a handful of other cases of people with dyskeratosis congenita undergoing liver transplantation have ever been published in medical literature. At Mayo Clinic's Florida campus, a case such as Brian's had never come before the transplant team, says Dr. Yataco.
"Brian's case was very peculiar, not only because of the DC, but because he had portal hypertension without cirrhosis," Dr. Yataco says.
While Brian's symptoms were similar to those of cirrhosis, his liver biopsy showed he instead had nodular regenerative hyperplasia, a condition in which small, round lesions take the place of healthy liver tissue.
And there was another problem. Brian's low blood counts presented the potential for additional issues after the transplant. Too few platelets and white blood cells could leave him prone to infections and bleeding. What's more, once Brian began taking anti-rejection medication, he'd be at even greater risk for infection and bone marrow suppression.
The risks posed by dyskeratosis congenita, however, weren't significant enough to deny him the lifesaving procedure at Mayo Clinic.
"After a very careful reviewed of his case by our multidisciplinary team, including transplant and pulmonary physicians, and because Brian did not present any other significant comorbidity or complication, he was accepted for liver transplant," Dr. Yataco says.
After his transplant, Brian still faced significant challenges. Immediately following the surgery, he learned his new liver wasn't working properly. "It wasn't corresponding to what my body wanted it to do," he says. "It wasn't doing anything."
Brian says his medical team was prepared to put him back on the transplant list, but after a sluggish start, his liver slowly began to work. But even with a functioning liver, Brian's body struggled to regain its ability to oxygenate his blood.
"It took a while for his hepatopulmonary syndrome to improve," Dr. Yataco says. "He required high concentrations of oxygen, which required him to stay in the hospital for several weeks. The DC doesn't allow the same form of healing as a normal person, which could have been part of the reason his recovery took longer."
In late July 2017, after 45 days in the hospital, Brian was discharged on the condition that he remain in Jacksonville until his oxygen saturation improved. Another three weeks passed before he was cleared for the drive home to California.
"They told me that I should probably stay in Florida even longer. But by then, I'd been away for four months. I hadn't seen my kids in two," Brian says. "We rented a full-size oxygen concentrator and drove across the country with the full-size concentrator, a portable concentrator and six bottles of oxygen. We'd drive several hours a day, pull over for the day and charge the tank."
Brian's care team agreed to his return to California only if he'd travel a route the team planned that would keep them within one hour of a major transplant center. "Sometimes we have to get creative," Dr. Yataco says of Brian's trip home.
Back home with his family, Brian gradually regained his stamina by walking his son to school, even though he was still on oxygen. During his rehabilitation, Brian took up hobbies that kept his hands and mind busy. Friends from a car club bought him a roll cage for his truck, which he installed.
"I had to get outside and do things that were normal for me," says Brian.
Brian took a significant step forward in his recovery when, in October 2017, he realized that even the lowest setting on his oxygen concentrator supplied him with more oxygen than he needed.
"I was on 1 liter, but noticed it was making me feel funny, so I stopped it altogether and called my pulmonologist," he says.
One pulmonary function test later, and Brian was cleared to go off the oxygen permanently.
"There were lots of times that I wanted to give up, that I told my wife, 'I don't want to keep going like this.' But I had little kids, and I had to," Brian says. "Now it's amazing to wake up and not feel sick — to not feel tired all the time. It's a whole new outlook on life."
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