In March 2016, Rochester primary care physician Joel Shamaskin M.D. went to an appointment that would change the course of his life. He had a condition that caused numbness and tingling in his feet, but lately it had been getting worse, causing him to stumble when he walked.
Shamaskin went to his neurologist for an evaluation. When he returned home with the results of several tests, the news he shared with his wife, Ann Shamaskin M.D., was unexpected and devastating. He had been diagnosed with amyotrophic lateral sclerosis, a progressive neurodegenerative disease that causes muscle weakness, paralysis, and eventually death, often from respiratory failure. Because the first symptoms of ALS are subtle, and vary from case to case, it can be difficult to distinguish from other illnesses. Moreover, 90 percent of ALS patients have no family history of the disease.
When I met the couple at their summer home in August, they shared their experience with ALS: the daily challenges, what terminal illness has taught them about living, and how they are contributing to medical research. On Sept. 12, the Shamaskins will participate in the Rochester Walk to Defeat ALS, an event that raises funds for research, equipment loans, transportation support, and other needs of those with ALS. (Those who would like to support the cause can join the event or sponsor Team Shamaskin or any other team, at the Walk To Defeat ALS Upstate New York Chapter page.)
Because of the emotional and physical challenges of ALS, the Shamaskins have retired from their medical practices, but they continue to take care of people in need, as passionate advocates for research and treatment.
As primary care physicians, the Shamaskins had made house calls to patients with ALS. They understood the physical challenges of ALS, as well as the emotional and financial struggles of patients and their families. While knowledge of the progression of ALS allowed them to plan ahead, it was overwhelming to have already seen the end-of-life stage of ALS, when they received Joel’s diagnosis.
“For me,” recalls Ann Shamaskin, “the hardest part was to think that you spent—I mean, between the two of us—probably 70 years taking care of people and then (Joel) getting a disease that there’s no treatment for, seemed very cruel.”
The couple took some time to grieve, arrange their financial and legal affairs, and come up with a treatment plan, before they faced the daunting task of telling their daughters. Over the past four years, two of their daughters have moved back to Rochester. The youngest, Sara, lives in Washington, D.C., but is currently working remotely from her parent’s home.
Sara Shamaskin joined our conversation during a break from work, sharing, through tears, her struggle with her father’s illness. She mentioned that she had been looking for ALS support groups.
“You can have grief counselors and therapists help you through grief,” she explains, “but (ALS) it’s something really weird because it’s not dealing with it after, it’s dealing with it during, and in the future.”
Seeing her father every day, and sharing ordinary experiences like family dinners, has helped her cope with his condition. She also appreciates being able to help him with tasks that he is no longer able to do. Her father now walks slowly with a cane, and struggles with chores he once did.
However, the Shamaskin family is committed to moving forward and making the most of their time together despite the challenges of ALS.
“We’re not going to live our lives being angry, it’s not going to change anything,” Ann Shamaskin says. “We at least have—if you have to look at the silver lining—we at least have something that is forcing us to look at and really focus on our lives and the quality of the time we spend together.”
Joel Shamaskin recently started playing the trumpet, taking lessons over Zoom and playing with the Eastman Community Music School’s New Horizons band. Playing the trumpet helps maintain his lung capacity (which can diminish over time with ALS) and keeps his spirits up.
Playing music together has become a Shamaskin family activity, where even the grandchildren (ages 1 through 5) can participate by playing tambourines and shakers. For Sara Shamaskin, music is a bonding experience with her father. She also appreciates that playing the trumpet is something that her father can do on his own, when there are so many activities that he cannot do without help.
“If people with ALS or another chronic condition that is changing them can find something that they alone take ownership of and make the commitment that they’re going to do as long as they can without having to rely on someone else, I believe this can help their self-esteem,” Joel Shamaskin says.
For his grandchildren, Shamaskin has been recording himself reading children’s books. ALS often affects the bulbar neurons, which send messages to move the muscles in the tongue, soft palate, vocal cords and lips, causing slurred speech and eventually an inability to speak. Losing the ability to speak is one of the most devastating aspects of ALS as our voices are such an integral part of one’s identity. Though Shamaskin is still able to speak, he is preparing for a future where he may not be able to.
He also is participating in voice banking, for which he uploads recordings of words and phrases, which can later be created into a synthesized voice that he can control from a computer.
The Shamaskins have met several times with John Costello, speech pathologist and director of the Augmentative Communication Program at Boston’s Children Hospital. Costello is taking voice banking one step further and creating message banking, which allows ALS patients to create longer phrases that include their unique voice, inflections and intonations. For Joel Shamaskin, voice banking and message banking helps to alleviate the stress of an uncertain future.
“To know right now that I’m doing something that probably will become relevant years from now, that makes me feel great because in a sense, I don’t have to worry. … People with ALS, they really should think about doing this,” Shamaskin says.
Two drugs approved by the U.S. Food and Drug Administration are believed to slow the progress of ALS. Neither reverses the damage that ALS inflicts on the body’s motor neurons, which control voluntary muscles. Though the efficacy of the medications is somewhat unclear, the Shamaskins consider them an investment in Joel Shamaskin’s quality of life. Every day, he takes an oral medication, and for 10 days every four weeks, he takes another by intravenous infusion.
Though both medications are partially covered by their insurance, they also incur substantial out-of-pocket expenses. The Shamaskins see themselves as very fortunate, to be able to afford the medication, and as doctors, administer the drug by intravenous infusion at home. Through their journey with ALS, they have met several other patients who struggle to pay for treatment and whose families drive several hours to take them to a hospital where they can receive medication by intravenous therapy. Many ALS patients also require physical therapy to strengthen the muscles that are still functioning, prevent spasticity (the shortening of muscles), and improve cardiovascular health.
Having seen the financial and caregiving burden of ALS in other families, the Shamaskins are doing what they can to support others. Joel Shamaskin is one of the 1,000 participants in a research project conducted by the Answer ALS Foundation, an organization devoted to finding a cure for ALS by creating a large database of information from ALS patients. (Answer ALS originated from the 2013 ALS Team Gleason Summit, created by former NFL player Steve Gleason, who lives with ALS.)
Joel Shamaskin traveled to Boston to donate blood samples, and participate in interviews and tests. Knowing the time required to create successful treatments, medications and cures, he does not expect his involvement in the project to benefit him, but he hopes that it will pave the way for future generations of ALS patients.
“We’re fortunate. I’m fortunate,” Shamaskin says. “I’ve got a wife who loves me and cares about me and kids who can help, but there are, I’m sure, many people with ALS who don’t have the loving family, and the resources to go to other cities.
“When I participated in ASL support groups sponsored by the ALS Association, it was clear that there were people there that are barely getting by—that’s where fundraising helps.”
Ann Shamaskin adds: “A disease like this is devastating; you can’t work, a lot of people don’t have disability insurance—you can become destitute pretty quickly.”
Though his focus is on ALS, Joel Shamaskin knows that his efforts can help those with any disability.
“He is an advocate,” his wife says, “not just for ALS but for people with all kinds of challenges.”
Now that he needs a walker or cane to get around, Joel Shamaskin is acutely aware of the lack of accessibility in so many of local buildings. He has been an active member of the Accessibility and Inclusion Committee at his synagogue to enhance participation of people with disabilities.
Throughout our conversation, the thoughtful, gentle doctor talked not only about ALS but of other medical conditions like strokes, multiple sclerosis and Parkinson’s disease, all of which can be life-altering. He wants to keep caring for people, not as a physician as he had once done, but as a fundraiser and supporter.
Shamaskin feels fortunate that he has already lived with ALS longer than many others have. He encourages living and enjoying the present and inspiring others to live fully. Having ALS has made him aware how important it is to communicate.
“If you have an opportunity to say something to someone, at a moment you’re with them or during some experience, if you let that go and don’t do it, you may not have that chance again,” he says.
Nipa Armbruster has been a fashion designer, martial arts instructor and an active volunteer in her kids’ schools. She currently writes the blog https://fashionipa.com.