For nearly 20 years, Rick Birn wondered what kept sending him back to the hospital. He was diagnosed with pure red blood cell aplasia, but he didn’t understand the cause and was perplexed after each hospital stint. After several doctors, treatments and relapses, Rick met Dr. Thomas Loughran, Jr. in 2016 and received an official LGL leukemia diagnosis.
The Search for Answers
Having a rare disease makes diagnosis difficult, and it’s harder to find useful information about your disease. Doctors try to help, but they can be unfamiliar with treating a disease that has yet to establish a treatment plan that applies to a broader population.
In 1998, Rick was admitted to an Alberta hospital with fatigue and shortness of breath. His doctors suggested the flu, but Rick and his wife, Tina, opted to get a second opinion. A blood test revealed low hemoglobin and pure red cell aplasia, and an exam discovered a growth called a thymoma. He had the growth removed and received radiation, followed by blood transfusions to treat the aplasia.
Rick felt well for the next 10 years until he relapsed in 2009. The pure red cell aplasia was back, and he received 15 units of blood, plus cyclosporine, an immunosuppressant. During this round of treatment, Rick’s hematologist was aware of Dr. Loughran and began to suspect Rick had large granular lymphocyte (LGL) leukemia, a form of chronic cancer.
“My doctor suggested we send our records and blood sample to the LGL Registry,” Rick says. The LGL Leukemia Registry is a national database at the University of Virginia that houses blood and tissue samples of people with or suspected to have the rare leukemia. More samples allows for more research into the disease and more answers for patients.
The Road to Diagnosis
The transfusions and cyclosporine worked until 2012 when Rick returned to the Cross Cancer Institute in Edmonton, Alberta, with another relapse. Pure red cell aplasia can occur with LGL leukemia, more commonly in Asia, and it is now known that LGL leukemia is the most common cause of pure red cell aplasia. Rick went through more treatments and transfusions, but this time the problem persisted. His previous hematologist retired, and his new doctor stayed in communication with Dr. Loughran. By 2016, Rick needed more help than he could get in Edmonton, and his hematologist suggested that he visit Dr. Loughran at UVA.
“The problem with LGL leukemia is that there’s no set treatment,” Rick says. “It’s all based on case studies, and everyone responds differently. Being able to see someone of Dr. Loughran’s caliber was a privilege.”
Rick took advantage of the LGL Travel Assistance Program, which covered his travel costs from Canada to Charlottesville, Virginia. Tina came with him, and they say they both feel that being able to meet Dr. Loughran saved Rick’s life.
Finding Community with an LGL Leukemia Diagnosis
Rick knew he had acquired pure red cell aplasia, but he had no idea why. He went through test after test and had numerous treatments and transfusions, each bringing about their own set of side effects. Although his doctors had suspected LGL leukemia since 2009, Rick was relieved to meet Dr. Loughran and finally have a formal diagnosis from someone who understands what LGL leukemia is.
“He got it,” Rick says. “He knew what we’d been through, and he explained things in detail. He explained how the LGL leukemia was driving the pure red cell aplasia. He saved my life. I’ve been living on my own blood for a year and a half now.”
Dr. Loughran reviewed the six-inch pile of medical files Rick provided and recommended a new treatment. Rick began the new course when he returned home, and says he felt better within three days. He hasn’t had a transfusion since. Prior to being treated by Dr. Loughran, Rick had 273 blood transfusions.
“It was such a relief to talk to Dr. Loughran,” Tina says. “Hematologists don’t always know rare diseases. Sometimes you’re teaching your doctor.”
Early in their journey with LGL leukemia, Rick and Tina didn’t have many sources to turn to. As the internet grew and they could search, they have been steadily educating themselves about the disease. They’ve joined an LGL leukemia support group on Facebook to participate in a community of people sharing a similar experience.
“I remember how it felt when you didn’t know where to go,” Tina says. “It’s difficult to deal with a rare disease. You feel all alone, like there’s no hope.”
“Get educated, but live your life,” Rick says. “If your doctor doesn’t understand the disease, find someone who does, or ask your doctor to contact UVA to coordinate with Dr. Loughran.” It’s good to know that no matter how you’re feeling, the right help is out there.
UVA Cancer Center specializes in the diagnosis and treatment of LGL leukemia. To learn more, explore our LGL leukemia resources, including educational content and frequently asked questions.Learn More