Mike Bole knows how quickly life can change.
The 44-year-old accountant and financial aid officer from Louisville, Ohio, had few worries. Happily married and father of a 5 year old and 8 year old, he was an active and involved family man.
Living in a neighborhood with many senior citizens, including his parents, he was the one they called upon to shovel a drive or to climb to a roof to remove fall leaves. He enjoyed helping others who could no longer do those things.
Then, about 6 years ago, the symptoms started.
Seizures. Black outs. Falls. Vision problems. He lost weight and was not always able to complete a sentence.
Doctors were puzzled; tests inconclusive. At least one suggested it was all in his head. He was losing hope when, by chance, a new doctor happened to have another patient with similar symptoms and thought this could be the same thing – a mitochondrial disease.
Almost all cells in the body have mitochondria, which are tiny power plants that produce the body’s essential energy. Mitochondrial disease means the power plants in the cells don’t function properly and nearly all body functions – growth, muscle control, digestion, and brain, heart, lung, and kidney function – can be affected.
As Mike became wheelchair-bound and his disease progressed, he had the good fortune to meet up with Dr. Bruce Cohen, director of the NeuroDevelopmental Science Center at Akron Children’s Hospital and one of the world’s leading experts in mitochrondrial disease.
Mike was diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke) syndrome and Dr. Cohen told him about a clinical trial for a new medication from Edison Pharmaceuticals called EPI743.
“Dr. Cohen wanted me to know that there could be many side effects – damage to my liver, damage to my kidneys – and that it is a rigorous protocol that would involve many hours at the hospital over 13 weeks,” said Mike. “I just thought about my kids and the fact that I wanted to be around to teach them to swim and play the trumpet and I said, `Sign me up!'”
Mike shared his story Nov. 19 – standing with the help of a cane and with no articulation problems – before an audience of lawmakers, community leaders and STEM students who may one day become doctors and researchers themselves.
The event, “Research in Your Backyard,” sponsored by the Pharmaceutical Research and Manufacturers of America (PhRMA) in conjunction with Akron Children’s Hospital, was intended to highlight the medical advances and economic impact of biopharmaceutical research.
Aris Eliades, Ph.D., R.N, administrative director of Akron Children’s Rebecca D. Considine Research Institute, noted that Akron Children’s has more than 80 departments involved in research, more than 90 clinical trials underway, and more than 600 other types of studies in progress.
“In some cases, we work on these as a single entity,” she said. “But often these studies are done in collaboration with organizations like the Children’s Oncology Group, the Cystic Fibrosis Foundation, the Ohio Children’s Hospital Association or universities like the University of Akron, Kent State University, the Northeast Ohio Medical College, and Case Western Reserve University. Today, more than ever, research is a team event.”
From the very start of his medical career, Dr. Cohen had a passionate interest in mitochondrial disease. But colleagues told him there were not enough patients to devote a career to it so he shifted his focus to brain tumors.
By the 1990s, it was evident that mitochondrial disease effects more people than previously thought (about 1 in 2,000) and now there is a growing link between mitochondrial dysfunction and Alzheimer’s disease, Parkinson’s disease, autism, muscular dystrophy, diabetes, obesity and some adult-onset cancers.
One of the reasons Dr. Cohen came to Akron Children’s in 2011 was the hospital’s commitment to helping him quickly build an infrastructure for conducting clinical trials for mitochondrial patients. The clinical trials receive financial support from pharmaceutical companies, such as Edison.
“Our inspiration is Mr. Bole and other patients like him,” said Dr. Matthew Klein, chief medical officer of Edison Pharmaceuticals, who attended the event.
The medication that’s helping Mike is still years away from FDA approval, and Dr. Klein acknowledges the important role the FDA plays in, above all, making sure new drugs are safe.
But he believes that, in some cases, there is a need to marry standard, conservative research protocols with expedited paths for people who have no other options.
“There are patients out there,” Dr. Klein said, “who say, `I am drowning in the middle of the ocean. I am not waiting for a cruise ship. I need a lifeboat.'”
Mike, meanwhile, is grateful for his second chance at life. While the experimental drug has provided better symptom management, it is not a cure for mitochondrial disease. He works a limited number of hours per week and cannot drive due to poor vision. Dr. Cohen won’t allow him to swim as he is still susceptible to seizures.
“I live a much smaller and more closely monitored life now to maintain a quality of life that is not what it once was,” Mike said.
But while teaching his children how to swim may not be an option, teaching them to play the trumpet still is.
“Music is a big part of our home life,” he said. “I play the trumpet and I have been able to teach both of my children the trumpet since starting the medication. We will all play together at our church this Christmas. These small things have great meaning and impact and we are very, very thankful.”