Man Overcomes Rare Protein Disorder, Finds Pain Relief Through Treatment

“Every night, it felt like somebody was holding both my feet in boiling vats of hot honey,” says Todd Maki, as he recalls the pain he endured before being diagnosed with a disease called AL amyloidosis.

“Leading up to my diagnosis, I probably tried 35 different kinds of treatment – none of them worked. I eventually came to Cleveland Clinic, and they discovered it was this very rare condition that was causing my pain,” says Todd of Youngstown, Ohio.

It was back in 2022 when he started experiencing a strange pain in his knees and feet. Forty-five years old at the time, he chalked it up to aging. But as a music composer by trade, he noticed his pain getting worse as he was preparing for a live performance.

“I started realizing I needed to put some thought into this, so I went to my doctor, who proposed I see a neurologist,” says Todd.

This was all new to him as he hadn’t been seriously sick at any point leading up to these symptoms. He followed his doctor’s orders and saw a neurologist, who Todd says used electromyography (EMG) to evaluate the health and function of his skeletal muscles and the nerves that control them. Through this test, he was diagnosed with a condition called peripheral neuropathy, which can cause symptoms like pain, tingling and numbness. From here, he tried different medications and treatments, but the pain just got worse.

“Over the course of a year, I started to have increased pain at night. At first, it was just unpleasant – then it became unbearable. It felt like someone was putting my foot on a hot frying pan,” says Todd, whose symptoms were so severe they kept him up at night.

Todd explains the pain traveled from his feet to his hands, and it started to impact his walking and mobility. In addition to the pain, Todd says he was experiencing muscle atrophy from his peripheral neuropathy, as the loss of nerve connections caused his muscles to shrink and weaken. Todd’s search for a solution eventually brought him to Cleveland Clinic.

At Cleveland Clinic main campus in Cleveland, Ohio, Todd underwent an array of tests to help identify what was causing his pain and peripheral neuropathy. After more common conditions were ruled out, his care team decided to do a nerve biopsy, which showed evidence of amyloid deposits. The discovery ultimately led to Todd being diagnosed with AL amyloidosis.

“It’s a very rare disease, and even more rare in a person as young as Todd,” says Todd’s neurologist David Polston, MD.

Todd was 46 years old at the time he was diagnosed in January 2024, and it’s unclear what caused him to develop the condition – which typically affects people who are 60 and older. Amyloidosis is a protein disorder, where proteins change shape and bind together to form amyloid fibrils, which gather on tissues and organs. The buildup of these amyloid fibrils can cause the tissues and organs to not work as well. In AL amyloidosis, the proteins that mutate are called light chain proteins. Light chain proteins are pieces of an infection-fighting antibody made by plasma cells in the bone marrow.

“One of the most common organs affected by AL amyloidosis is the heart. Todd was having some palpitations, while his echocardiogram showed mild thickening of the heart walls,” says Todd’s cardiologist Mazen Hanna, MD. This meant not only were Todd’s nerves being impacted, causing him to suffer from painful neuropathy, but it was also beginning to take a toll on his heart.

“That’s why it’s important to have a multidisciplinary team working together to treat a complex condition like this. We took a team approach to help optimize his care,” says Dr. Polston.

After Todd’s initial tests and diagnosis, he was referred to his hematology and oncology team, which included Faiz Anwer, MD. Although there is currently no cure for AL amyloidosis, effective treatments exist that can stop the overproduction of amyloids in the body. These treatments can gradually improve the condition of your organs, potentially restoring them to normal function over time.

In Todd’s case, he underwent multiple rounds of chemotherapy and immunotherapy. Chemotherapy works to destroy the abnormal cells that are producing amyloid proteins, while immunotherapy assists the body’s own immune system in identifying and attacking these abnormal cells that are producing amyloids. The goal of these treatments is to stop and further prevent amyloid fibrils from building up. Although Todd says the treatment regimen was tough with various side effects, it did produce promising results.

“Amyloid production did stop and testing also shows healing has begun in my nerves,” says Todd, who’s now in remission from the disease.

Before treatment, Todd had to walk with a cane and had trouble with everyday tasks and keeping up with work. Although he’s still healing, Todd says he’s seeing improvements.

“I still have pain, but it's nowhere near what it was before. A little bit of strength has returned to my hands, enough for me to be able to conduct and get back to work. I can also walk without a cane and do stairs now,” says Todd, who notes palliative and supportive care at Cleveland Clinic has been crucial in managing his pain as well.

Dr. Polston adds, “Since working with the hematology team to treat his condition, Todd’s been stable from a neurological standpoint. Without this intervention and treatment, his condition would have gotten progressively worse,” says Dr. Polston.

Along with his neurological symptoms improving, there are no longer concerns regarding Todd’s heart at this time. Dr. Hanna says this is a testament to the ever-advancing treatments for this condition.

“The treatment for amyloidosis has vastly changed. Now people can live for years and years with this condition that was previously fatal,” says Dr. Hanna.

Working in the music industry for more than two decades, Todd now looks forward to many more years of composing and conducting. As he continues healing, his care team will closely monitor him for any changes in his condition.

Todd shares his gratitude for all those who have helped him and given him hope. “They eventually figured this thing out, and it’s amazing how they did it,” says Todd.