This post was originally published in the Looking Back
With hindsight, it's easy for Mary, Steve's wife and a physical therapist, to spot signs of her husband's then-worsening balance.
"When we look back now, we walked the Kalalau Trail in Hawaii in 2010, and there were many times I was really nervous," she says. "It's a narrow trail and it's very uneven. While he didn't fall, his balance wasn't what it used to be. But, we didn't think anything more of it at the time."
In the ensuing months after returning home to Denver from their favorite vacation spot, Steve began to fall. First the slips came on uneven ground at job sites where he worked as a geotechnical engineer. But eventually, he was no safer on flat ground.
Doctors thought they'd figured it out when he visited a neurologist in 2012 who discovered Steve needed neck surgery to correct a condition that caused him to lose feeling in his left arm.
Steve was told the balance issues should correct themselves in 12 to 18 months. Instead, they got progressively worse.
Finally, an MRI showed something concerning in early 2013—atrophy of the cerebellum and pons areas of Steve's brain that control muscle function and involuntary (autonomic) functions. His doctors in Colorado told him there wasn't anything they could do to slow the progression.
When Mary requested a referral for a second opinion at Mayo Clinic, they still didn't have a name for the condition. All they had were signs that it was advancing beyond control. "I was falling more and more before I went to Mayo Clinic," Steve says.
"This Is Not Right"
Multiple system atrophy (MSA) is a rare neurological disorder that impairs a person's involuntary functions, including blood pressure, heart rate, bladder function, and digestion. People begin showing symptoms of the degenerative disease in their 50s or 60s.
"It's a rare disease," says Mayo Clinic neurologist Wolfgang Singer, M.D., who estimates the institution sees about 15 new patients with MSA each month. "Typically, the story is that patients have seen several neurologists or even cardiologists because they've fainted.
"Eventually, someone says, 'This is not right; this is not Parkinson's disease. Let's get you to a center that has more experience.' And they come here not knowing the diagnosis."
That moment of diagnosis can be even worse—MSA is terminal and treatment options focus on managing the myriad of symptoms.
"This is a rapidly and relentlessly progressive disease," Dr. Singer says. "The median survival is less than three years from the time diagnosis is made, seven to eight years from the first symptom. Today, there is no treatment to slow the disease course."
"I Was Resigned"
Before Steve even traveled to Mayo Clinic, his local neurologist gave him discouraging news.
"She said, 'You're eventually going to choke to death,' " Steve recalls. "I was resigned to it already."
But Mary was determined to see if Mayo Clinic had any ongoing research for conditions like Steve's.
When they met neurologist Joseph Matsumoto, M.D., he first suspected Steve might be experiencing MSA and referred them to Dr. Singer.
"Dr. Matsumoto said, 'I want Dr. Singer to look at your tests,' which all came back not good, and we met with Dr. Singer within an hour," Mary recalls. "We had been told previously in Denver there was nothing to be done, just go home."
Even Slowing Is Big
For as rapid and relentless as MSA is, Dr. Singer and neurologist Phillip Low, M.D., have been working for the past five years on a leading-edge regenerative medicine approach to manage the disease progression by using adult stem cells procured through the patient's own fat cells.
An early-stage trial of 24 people with MSA, including Steve, began in 2013. Dr. Singer says, "Most patients receiving this experimental treatment experienced a slower progression than MSA patients who did not receive stem cells."
The final follow-up of the patients ended in the summer of 2016.
The participants were so grateful to have participated in the study they asked Dr. Singer what was next after the first year of injections. Drs. Singer and Low petitioned the Food and Drug Administration to allow them to continue injecting adult stem cells every six months under compassionate care protocols. Every participant offered the ability to continue the treatments did so.
"We also want to make it clear to patients, this is not a cure," Dr. Singer says. "Patients still progress, but it seems to be something that slows the disease course. Looking at neurodegenerative disorders, we don't have anything like this. Even slowing is a big thing."
Steve and Mary say while they hope for a cure, it's been made very clear to them that Steve's condition will progress.
"In the excitement of seeing good results, we had to keep saying, 'This isn't a cure; this isn't a cure,' " Mary says. "We're aware that it's not a cure, but we take what we've got because there is nothing else available."
Steve and Mary estimate his first symptom appeared more than six years ago. Steve remains able to walk—a major marker in the disease's progression—and still participates in activities such as Pilates and paddling with the Hanalei Canoe Club twice a week when they're vacationing in Hawaii.
"We just go on," Mary says. "We don't spend a lot of time thinking about MSA."
Dr. Singer plans to launch a larger five-year multicenter trial of 90 participants in the near future and believes the earlier in the diagnosis they can find participants, the better patients will respond to the stem cell injections.
"The next phase trial will be very expensive, and we will need additional resources to support it," Dr. Singer says. "This line of research can make an impact on the lives of our patients."
Small Cells, Large Impact
In the trial, Drs. Singer and Low work with Mayo Clinic's Center for Regenerative Medicine and the Human Cellular Therapy Laboratory, run by Allan Dietz, Ph.D., to produce the cellular therapy for study participants. These specialized cells, known as mesenchymal stem cells, are derived from the patient's own fat tissue and cultured in the laboratory to doses of 10 million to 100 million cells per injection.
For the MSA study, like nearly all cases using stem cells, this regenerative therapy is intended for people for whom there are no other treatment options available. The Human Cellular Therapy Laboratory ensures all cell therapies for early-phase clinical trials at Mayo Clinic are of the highest quality and comply with Good Manufacturing Practice regulations.
"The lab does all the hard work," Dr. Singer says. "We came up with the idea for the study, we do the tests and the procedures surrounding the study, but the actual product is made by the Human Cellular Therapy Laboratory. We certainly couldn't do it without them."
Another Day
Back in South Dakota, Steve, his old coach and his wrestling team are being inducted into the Lincoln High School Hall of Fame for their role in an event that took place 47 years earlier—one in which they didn't even participate.
Steve and his teammates were among the best in the state in 1969. But, they never got the opportunity to wrestle for a state championship because of a February snowstorm that stranded the team and many other Sioux Falls wrestlers on an icy highway 10 miles from the arena.
Steve, wrestling at 154 pounds at the time, didn't make it to the weigh-in on time and was disqualified, along with the rest of his Lincoln High teammates. The local newspaper dubbed the school's disqualification "The State Title That Wasn't."
Without a hint of snow on a balmy autumn night, Steve and the rest of his teammates reminisce and reflect on the past. While he may have missed his shot at a state title in 1969, he certainly hasn't let any more opportunities pass him by. Steve continues looking forward. He'll return to Hawaii soon, spend more time with his two children and two grandchildren, practice Pilates in a sun-swept studio near the Pacific Ocean and paddle again with the Hanalei Canoe Club.
MSA has threatened multiple times to throw him off balance, but with the help he found at Mayo Clinic, Steve continues to have time with something that holds him steady—the life he loves.
"I keep busy," Steve says. "That's for sure."
