Exploring the frontiers of science by expanding awareness and developing treatment for a little-known disease with no known cure is an adventure that John Bissler, MD, director of Le Bonheur’s Tuberous Sclerosis Center of Excellence, seems destined for.
His passion for the disease known as tuberous sclerosis, or tuberous sclerosis complex (TSC), and his expertise in that specific area within his specialty of pediatric nephrology are something he “backed into” while working his way through Northeastern Ohio Universities College of Medicine doing laboratory chores, Bissler explained. “In the process, I realized I really liked research; as a resident, I was happiest when I was seeing patients and doing research to put myself through.”
In pursuit of grants in an effort to become more competitive, he discovered the field of molecular biophysics and was immediately intrigued by an unusual tract in the polycystic kidney disease 1 gene (PKD1): “This funny tract has fascinating structural features — very unusual," he said. "PKD1 is right next to (the) TSC2 (gene), and I knew that there could be a significant cystic disease in TSC.”
It was this kidney connection that sparked his initial involvement — and a 30-year career of seeing TSC patients and searching for ways to help them.
Although the disease attacks not only the kidneys but any organ, including skin, brain, heart, eyes and lungs, Bissler’s studies have made him a leading expert on manifestations of TSC in all areas of the body. He consults often with other physicians concerning TS tumors or lesions that can result in skin abnormalities, seizures, mental retardation, renal failure and death.
Bissler was the principal investigator who helped design a registration trial that won FDA approval for a drug to treat the TS tumor — one of his proudest achievements.
He discovered that mammalian target of rapamycin (mTOR) inhibitors helped reduce the size of renal angiomyolipoma, which is found in approximately 80 percent of TS patients. His findings established that the drug is safe and effective in decreasing tumor growth, and made a life-changing difference for many patients.
Although the disease was first identified and described in 1880, its rarity makes TS difficult for physicians to recognize unless they know what to look for. Better diagnostic criteria continue to evolve and continue to be modified, as recently as 2012, by Bissler and his colleagues.
“It’s hard to find somebody who has seen more than a few cases," he said. "I stopped counting after I had billed for more than 1,500 cases.”
So when leaders at Le Bonheur moved in 2013 to recruit a director to develop a comprehensive tuberous sclerosis complex program focused on research, progressive technology and improved patient care, Bissler was a natural choice.
And from his perspective, the opportunity to work with Le Bonheur and St. Jude to care for kids with serious illness was not to be missed. “What Memphis could offer me to help my patients was so much better than anywhere else . . . that it was an easy decision,” he said.
Under his direction, the unique TSC center continues to add specialists, clinicians and researchers while expanding services and coordinating delivery and depth of care in new ways, developing telemedicine connections nationally and internationally. Through travel and/or telemedicine connections, Bissler has served TS patients in Shanghai, Hong Kong, and Canada, while the hospital has supported his licensure to practice in a growing number of states.
“All (physicians) need is a computer, iPad or smart phone with a camera and I can do face-to-face visits” to consult, he said.
The growing program staff includes 23 physicians and nurses who care for TS patients, and Bissler is adding ways to help patients who travel to Memphis for care. FedEx Family House provides a place where patients’ families can stay for free, while concierge service from the airport to the hospital is in development, with coordinated care at every stage.
Research is an essential program goal for Bissler, who also serves as director, Division of Nephrology, at St. Jude Children’s Research Hospital and Le Bonheur Children’s Hospital, and professor of pediatrics, University of Tennessee Health Science Center.
While actively working to find a cure for TS, Bissler identifies his long-term goal as prevention of the disease manifestation. “Research collaborations are forming or have already formed and are growing nicely within the university (UTHSC) and St. Jude; I foresee great strides toward improved therapy for the kidney disease as well as other aspects of the disease.”
What’s been most challenging? Typical models of care don’t work, Bissler said. With many doctors involved, imaging, etc. “. . . it becomes a logistical challenge that needs to be met, and it requires more nursing time. We’re creating something in a different way, asking ‘What do we need to be the very best, from the family’s perspective?’”
And how is that doable? “I found that scientifically and administratively at Le Bonheur, the University of Tennessee and St. Jude, the amazing cooperativity and trying to do the right thing for patients have been just wonderful.”
Bissler is the father of two grown daughters and loves to ride his bike. His thoughts, even in his leisure time, are focused on a passion that is more than professional: the biology of tuberous sclerosis.
Perhaps that’s because the everyday rewards his work offers are priceless.
“It’s an amazingly beautiful thing to see how common — in every country I’ve been — how a mother loves her child, or a family tries so hard to help their sick child," he said. "That’s a binding feature of humanity, and it’s a privilege to work with them.”
RELATED LINKS:
http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm
http://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/basics/symptoms/con-20032953
http://www.fedexfamilyhouse.org/
