A college-aged woman sits between her parents in a clinical exam room.

Her father, to her left, talks about how it feels like he has “bugs under his skin.” The physician listens carefully, runs a series of tests.

The patient spreads his fingers wide while the doctor tries to push them closer together. He holds his head forward while the doctor tries to push it backward.

He makes notes on the patient’s symptoms, then confirms a devastating diagnosis: the father has ALS — an incurable disease, one that robs people of the ability to control their bodies and generally leaves them two to five years to live.

The patient, his wife and his daughter remain composed, until the doctor looks directly at the daughter and asks, “How are you doing?”

She bursts into tears.

A difficult emotional toll

Scenes like this play out about half a dozen times every Thursday in the clinic of Stephen Kolb, MD, PhD. He’s a leading expert in the treatment of amyotrophic lateral sclerosis (ALS) — Lou Gehrig’s disease. The incurable disease affects nerve cells in the brain and spinal cord, gradually robbing patients of the ability to send a message from the motor neurons in the brain down the spinal cord and to the muscles.

Eventually, ALS patients lose the ability to talk, eat and breathe.

Dr. Kolb, who has studied ALS for 25 years, is direct but hopeful as he responds to the patient’s daughter. While offering tissues and maintaining eye contact, he explains how the diagnosis can help set a course.

“I’m still impotent to stop this disease,” he explains.

“But we have an opportunity here to have real, important years of life. We can take control of this uncontrollable situation,” says Dr. Kolb.

On this day, he sees five patients. In two cases, patients are receiving their diagnosis for the first time. Some seem relieved to finally know what has been causing their symptoms, such as occasional falls or slurred speech.

He acknowledges the gravity of the situation but doesn’t seem weighed down by it. “This is the core of what we do,” he says.

Dr. Stephen Kolb with the multidisciplinary ALS team
Dr. Kolb calls his clinic colleagues “the Dream Team.” They’re each experts in various areas that ALS patients need support.

A team-based approach to caring for patients with ALS

Dr. Kolb’s patients are all generally early in their journey with the disease. In most cases, mobility and speech issues have not arisen yet. If you were to see them, you might not even suspect they have a disease. As such, the focus of these appointments is mostly on connecting patients with the right members of Dr. Kolb’s team — “the dream team,” in his parlance. The group includes members who specialize in areas such as social work or mobility, helping patients get connected to resources they’ll need as their disease progresses.

He sees his role as a facilitator, connecting patients with the right resources so they have a plan to manage symptoms before they arise.

“The way that we all approach it is you’re helping people live, you’re not helping them die,” says Sarah Heintzman, APRN-CNP, a certified nurse practitioner who has worked with Dr. Kolb for over a decade.

“How they live, they get to define that in some aspects. As you see degeneration, as you lose function, our job is to try to help them deal with whatever symptom comes up,” says Heintzman.

Dr. Kolb, who loves metaphors, likes to talk about his work with ALS patients as “landing the plane.” His goal is to make a patient’s remaining years as smooth and enjoyable as possible — landing a plane softly. He uses the image of Snoopy’s nemesis, the Red Baron, crashing his biplane in a cloud of black smoke.

“When you don’t have a multidisciplinary clinic, people aren’t able to have these discussions, prepare loved ones, then it’s like the Red Baron. What we do is land the plane. Most of us die in ways we don’t expect. I’m going to die, and I want it to be like that.”

A diverse background, a painful loss

Dr. Kolb is an Ohioan by birth — he was born while his dad was studying chemistry in graduate school at the University of Cincinnati. He moved around a lot as a kid, spending junior high school in Texas and high school in New Jersey. He carried a love of music and chemistry to undergraduate school at the University of Texas.

“I fell in love with the lab,” he says of his time at Texas. “The lab was a very good place where I could have control. I had a talent there.”

Three months before he graduated, he lost his dad to a heart attack.

“That was my first real loss,” he says. “Because it was premature, I felt a little different from my peers. There was a period where I was pretty depressed. I started to understand more about depression, grief and loss.”

During his residency at the University of Pennsylvania, he developed an interest in the treatment of ALS. Losing his father gave him a nuanced perspective on the effect the disease has on patients and their families.

“I had that connection with loss, and with the inability to have a connection with someone you love,” he says. “I felt very comfortable.”

Passion and hope for ALS research

Dr. Kolb’s weekly sessions with patients are just a small part of what he does. As the leader of Ohio State’s ALS research program, he says that his “motivation is the science.”

His lab studies tissue samples collected from patients with ALS to try to better understand how genetic diseases are expressed in neurons. The hope is that researchers can determine why neurons are selectively vulnerable, which could lead to clues about ways to address that weakness. That could lead to new treatments.

Dr. Stephen Kolb and Sarah Heintzman, APRN-CNP in Ohio State’s ALS Clinic
Sarah Heintzman, a certified nurse practitioner and longtime colleague of Dr. Kolb’s, describes him as very personable and approachable for his patients.

The work that Dr. Kolb and Ohio State have done to learn about another genetic disease gives him hope that his ALS research can lead to treatments. In 1995, research at Ohio State identified the cause of spinal muscular atrophy (SMA), a genetic disease that weakens a child’s muscles to the point that the child may be unable to walk or crawl. Although it is still incurable, the FDA has approved gene therapies to treat the disease.

His goal with ALS — he avoids the word “cure” — is to stop the progression of the disease in patients. The research that his team is doing is already helping patients he sees in clinic.

“Having the research environment within the clinic helps convey to patients that this isn’t the end of the world. It benefits patients because it gives them something that they can do to help us make this better,” says Dr. Kolb.

Once again dipping into metaphors, he describes how patient care and research intersect for him.

“For me, it’s like I’m both a conductor and a composer,” he says. “As a researcher, I feel like I’m composing — I’m creating things in the background. As a clinician, I’m public-facing, like a conductor. I love that I can be both.”

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