Matthew has a rare genetic disease that currently has no cure. He participated in a clinical trial, offered through Cincinnati Children’s Applied Gene and Cell Therapy Center, to help investigate an innovative therapy that could impact his future, as well as future patients with his disease.
Matthew describes himself as a fighter. He says it’s in his DNA.
He’s not wrong. The 41-year-old has endured more heartache than most because of a rare, genetic disease with no cure. But instead of giving up, Matthew is leaning in.
From what Matthew remembers, the story started when he was around 15 or 16 years old. His brother Michael, who was three years older, had suffered nosebleeds on and off throughout his life.
When nosebleeds were still affecting Michael as a college freshman, his doctor recommended blood work—not just for Michael, but for his whole family.
Michael’s and Matthew’s tests came back showing low platelet counts. Their mother’s test showed normal platelet counts but low white blood cells. Tests for their father and brother were normal.
Now-retired Cincinnati Children’s hematologist-oncologist Richard Harris, MD, took over care for Michael and Matthew. He started by running tests, including genetic testing, to find answers. Yet, despite the issues with his and his brother’s health, Matthew recalls making plans during that time to join the U.S. Marines.
“I wanted to serve my country,” he said. “God had other things planned for me, though.”
Within a few years, Michael’s platelet counts began to drop dramatically, and he was diagnosed with liver disease that had caused significant tissue scarring, or sclerosis. Dr. Harris recommended a bone marrow transplant because Michael’s bone marrow was failing. He told Michael that he may need a liver transplant, as well.
A diagnosis though, was still proving elusive. Michael had tested negative for a known genetic mutation linked to a telomere biology disorder, so Dr. Harris had ruled that out. Telomere biology disorders are genetic diseases that happen when the protective ends of chromosomes, called telomeres, become too short. This can lead to serious health problems like bone marrow failure and lung disease. Instead, Dr. Harris had diagnosed Michael with aplastic anemia, a condition that develops when the bone marrow stops making enough new blood cells.
Michael had a bone marrow transplant, but he passed away a short time later from complications of his liver disease. He was 28.
Dr. Harris returned to his earlier suspicion that a telomere biology disorder was the true culprit. He ordered telomere length testing for Matthew and found that his telomeres were short.
Dr. Harris determined the genetic mutation causing Matthew’s and Michael’s telomere biology disorder affected a gene that hadn’t yet been identified, something that happens in 1 in 5 cases.
Finally, Matthew—and Michael—had a diagnosis: dyskeratosis congenita, a telomere biology disorder that causes bone marrow failure. It affects roughly one in a million people.
Kasiani Myers, MD, a member of Cincinnati Children’s Division of Bone Marrow Transplantation and Immune Deficiency, took over Matthew’s care about 10 years ago, after Dr. Harris retired.
Like Dr. Harris before her, Dr. Myers saw Matthew annually for screening-based tests. Because there isn’t a cure for dyskeratosis congenita, treatment primarily focuses on the early identification of potential problems, like scarring of the liver and lungs.
Matthew’s mother, Mary, eventually developed pulmonary fibrosis, or scarring of the lungs, when she was 59. She was able to dance at Matthew’s wedding, but her condition progressed to the point where she needed a lung transplant, and she passed away two years later.
“After my mom was diagnosed with pulmonary fibrosis, she talked to her brothers and sisters and discovered her older brother had pulmonary fibrosis,” Matthew said. “And she learned that her mom had been diagnosed with aplastic anemia. That’s when we were able to put the pieces together.”
Dr. Myers said the puzzle fit: “Normally with people who have dyskeratosis congenita, their blood counts go down, and they get aplastic anemia, which is what Michael had. Additionally, with this disease, each generation experiences the symptoms earlier because you inherit telomeres from your parents. In older generations, we often see liver and lung disease as the first sign, and then in younger generations, we see bone marrow problems as the first sign. That’s why it makes sense that Mary was diagnosed with lung problems first, and her sons had bone marrow problems first.”
Every time Matthew visited Dr. Myers for his annual tests, he asked about potential research opportunities.
“My mindset with dyskeratosis congenita has always been that I’m going to beat it,” he said. “I know there isn’t a cure for it yet, but there are clinical trials that are providing hope.”
Dr. Myers notes that Matthew has always been interested in helping others.
“This is a terrible disease,” she said. “But Matthew always says he feels like he owes it to the world to do what he can.”
In the middle of the COVID-19 pandemic, Dr. Myers contacted Matthew with some news. She was the principal investigator for a first-in-human clinical trial, developed by Cincinnati Children's Applied Gene and Cell Therapy Center and Elixirgen Therapeutics, to test a new treatment for patients with telomere biology disorders. The treatment was designed to extend the length of patients’ telomeres.
“It’s giving a survival advantage to stem cells,” Dr. Myers said. “When your telomeres get too short, your body shuts everything down. It’s a defense mechanism. With this treatment, we’re making the telomeres longer and more fit so they will, hopefully, survive and become the predominant producers of blood for longer, potentially forever. But we don’t know that.”
Matthew volunteered to be the first participant in the trial.
“Instead of the Marines, dyskeratosis congenita has become my new fight,” he said. “But I’m not doing it for me. I’m doing it for the generation that comes after me.”
Matthew tolerated the treatment at Cincinnati Children's well. Roughly four years later, his blood counts have remained stable, and his neutrophil counts—a type of white blood cell—have improved.
“Stable counts as a success in this disease if it’s maintained,” Dr. Myers said. “We have hope that Matthew’s blood counts will remain stable, and he’ll be in a good place.”
Dr. Myers adds that the treatment doesn’t improve other issues, like lung and liver disease, but “it’s a first step toward improving outcomes in these patients.”
Recently, Dr. Myers and her fellow researchers published their preliminary data from the trial, which demonstrated the positive early results. At first, only Matthew and one other patient were enrolled in the ongoing trial. As of today, six patients have enrolled and been treated.
“Dr. Myers is more than I could have ever asked for in a doctor,” Matthew said. “She really cares about her patients. I feel grateful that she gave me the opportunity to participate in this trial and to see, in my lifetime, what the longer-term implications of this new treatment could be.”
(Published November 2025)
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