A 15-year-old hockey player with MS may never experience a symptom, thanks to Colorado research
Children’s Hospital Colorado is following 180 people who are siblings or children of people with multiple sclerosis in a breakthrough study
Blaise Pfeifer, 15 and a ninth grader at Standley Lake High School, lives for hockey. He started skating at 3, travels the country for tournaments, and describes gliding across the ice with a puck “like second nature.”
He also knows he has multiple sclerosis, though he has never felt a symptom.
He was diagnosed with the autoimmune disease that attacks the brain and spinal cord after enrolling in a study at Children’s Hospital Colorado for kids whose parents have multiple sclerosis. A series of brain scans beginning when Blaise was 12 revealed neurological activity and lesions that are telltale signs of multiple sclerosis.
Blaise began taking medication, a drug called rituximab, that his doctors say could prevent him from ever getting an MS attack. And since he began taking it two years ago, he has not had any new lesions on his brain.
The sequence of events is remarkable because people do not typically receive a multiple sclerosis diagnosis before they’ve had attacks — legs that go numb, lost vision in one eye that last for a few days, difficulty walking that lasts for a few weeks and then goes away.
There is no genetic test to diagnose MS and no one gene that is identified as the cause. Instead, scientists have identified more than 230 genetic changes that are more common among people who have family members with multiple sclerosis.
Doctors believe the disease, which typically progresses to balance problems and difficulty walking, is caused by a combination of genetics and environmental factors. Low vitamin D, living in a house with a smoker, childhood obesity and contracting the Epstein-Barr virus are among the environmental factors. People are most often diagnosed in their 20s and 30s.
Blaise’s mom, Amanda Pfeifer, was diagnosed in 1996 at age 24, after making four or five trips to urgent care and a hospital emergency department. On one of her first trips to the doctor, Pfeifer had a numb feeling in her left leg, from the knee to the foot. Doctors speculated that it was a pinched nerve, then poked her with a needle to see if she could feel it. She yelped out in pain, and then they sent her home.
The day Pfeifer woke up with ringing in her ear and numbness in the right side of her face, her father told her to go to the hospital. “That’s when I got my MRI,” said Pfeifer, now 51. “The whole diagnosis took about six months.”
She’s the type of person who goes to the doctor at any sign of a problem, and she has a theory about why women are more likely than men to get diagnosed with MS at a younger age. “That’s because men don’t go to doctors,” Pfeifer said. She knows two men with multiple sclerosis in her hydrotherapy class who told her they ignored symptoms when they were young.
Early diagnosis is key because MS is a degenerative disease, marked by a gradual loss of function that builds over time. Treatment can slow the process.
Pfeifer was adopted and doesn’t know whether her biological parents had MS, so when she heard about the study at Children’s, she didn’t hesitate to enroll her two sons.
“When I was 12, if somebody could have looked at my brian, maybe a lot of what I went through would not have happened,” she said.
Pfeifer has managed her disease with a medication called Tysabri, which works by sticking to cells that are attacking nerves in the brain and spinal cord. The body’s immune system makes cells to kill viruses and bacteria, but with MS, those cells attack the brain and spinal cord by mistake.
The medication is “keeping my MS at bay,” said Pfeifer, who is able to walk with the help of a trekking pole.
“It is what it is”
It was a school day afternoon when Blaise learned his diagnosis. He came to find out that his parents had received a call from the doctor that day. Soon after, the family had a telehealth appointment with Dr. Teri Schreiner, a pediatric neurologist who specializes in neuroimmunology and the study’s lead pediatric researcher.
“It did take me by surprise,” Blaise said. But right away, he said, his mind shifted to, “What do I do next?”
The news, he said, wasn’t devastating, likely because he has watched his mom function with the disease his whole life. And there was no question that he’d rather know now than find out years from now, when the disease was already affecting his ability to play sports. Blaise is also on his high school lacrosse team, though hockey is his favorite.
“I just took it as face value,” the teenager said. “It is what it is. I’d rather know. If I did wait until I started showing symptoms, it would affect my life quite a bit, for my athletics and just my hockey.”
Blaise said he was reassured that every doctor he’s met has said something like, “It’s good that we caught it this early.”
“I never saw it as that bad, seeing how my mom worked through it.”
Blaise’s younger brother, Quinn, 13, went through the study two years after Blaise. He does not have MS.
Catching the disease at “the earliest possible time”
Blaise is the only pediatric patient diagnosed with MS through the Children’s Hospital study, which included 25 children. The study is for people up to age 30, and Schreiner focuses on those 17 and younger.
The study so far included 180 adults and children, of whom 27 were found to have spots on their brains that were concerning signs of MS. Two adults and Blaise were the only three people whose followup MRIs showed changes consistent with MS. None have had a clinical attack.
The study looks at first-degree relatives, meaning siblings or children, of MS patients over time, Schreiner said. So far, 53 people returned for more scans two years after their first scans.
The disease is tricky to diagnose, and involves examining changes in a patient’s MRIs over time to determine whether lesions are “active,” Schreiner said.
People enrolled in the study submit information about their environmental risk factors, and give blood to test for viral risk factors, their level of vitamin D and genetic markers. One goal of the study is to develop a more sophisticated risk score for first-degree relatives of people with MS, based on their combination of environmental and genetic factors. Another is to prevent the disease from causing physical symptoms by stopping it before it progresses.
“For Blaise and others like him, we want to catch the disease at the earliest possible time so that disability does not accumulate over time,” she said. “We know that the disease of MS actually starts months, perhaps even years, before the first clinical attack.”
Schreiner said it’s valid to consider the ethics of telling a child he has a potentially life-altering disease, and that there wouldn’t be a point if there was no preventative action. But taking medication now could change Blaise’s life, she said. Besides, for people whose relatives have MS, the “the worry is already there,” so knowing and working to prevent symptoms is better than just worrying that symptoms might develop someday, she said.
“This way we can take active steps to try and mitigate it,” Schreiner said. “I care about what Blaise looks like now. I also care about what he looks like at 50.”
Blaise and the other study participants had dye injected into their blood during an MRI so that doctors could observe how the blood acts in their brain. The dye should stay in the blood vessels, not seep into brain matter, creating lesions.
Blaise had three MRIs, beginning at age 12. The first one in 2021 showed numerous spots in his brain that are typical of patients with MS, but the spots were not active. Then two more MRIs showed new, active spots on his brain.
Yet his neurological exam is normal, Schreiner said.
Since Blaise started the medication, no new lesions have appeared. Schreiner can’t say for sure what would have happened without treatment, but she suspects Blaise would have had his first physical symptom within a couple of years.
“It could prevent him from ever getting an attack,” she said.
Blaise gets an IV injection of the medication twice per year, and while the initial treatments were at Children’s, he now does them at home. He doesn’t focus on it.
He’s much more interested in his skills at right and left wing. “I’ve been playing for such a long time, I just love the game,” he said. “It’s just what I do.”
https://coloradosun.com/2024/05/09/m...lorado/
Children’s Hospital Colorado is following 180 people who are siblings or children of people with multiple sclerosis in a breakthrough study
Blaise Pfeifer, 15 and a ninth grader at Standley Lake High School, lives for hockey. He started skating at 3, travels the country for tournaments, and describes gliding across the ice with a puck “like second nature.”
He also knows he has multiple sclerosis, though he has never felt a symptom.
He was diagnosed with the autoimmune disease that attacks the brain and spinal cord after enrolling in a study at Children’s Hospital Colorado for kids whose parents have multiple sclerosis. A series of brain scans beginning when Blaise was 12 revealed neurological activity and lesions that are telltale signs of multiple sclerosis.
Blaise began taking medication, a drug called rituximab, that his doctors say could prevent him from ever getting an MS attack. And since he began taking it two years ago, he has not had any new lesions on his brain.
The sequence of events is remarkable because people do not typically receive a multiple sclerosis diagnosis before they’ve had attacks — legs that go numb, lost vision in one eye that last for a few days, difficulty walking that lasts for a few weeks and then goes away.
There is no genetic test to diagnose MS and no one gene that is identified as the cause. Instead, scientists have identified more than 230 genetic changes that are more common among people who have family members with multiple sclerosis.
Doctors believe the disease, which typically progresses to balance problems and difficulty walking, is caused by a combination of genetics and environmental factors. Low vitamin D, living in a house with a smoker, childhood obesity and contracting the Epstein-Barr virus are among the environmental factors. People are most often diagnosed in their 20s and 30s.
Blaise’s mom, Amanda Pfeifer, was diagnosed in 1996 at age 24, after making four or five trips to urgent care and a hospital emergency department. On one of her first trips to the doctor, Pfeifer had a numb feeling in her left leg, from the knee to the foot. Doctors speculated that it was a pinched nerve, then poked her with a needle to see if she could feel it. She yelped out in pain, and then they sent her home.
The day Pfeifer woke up with ringing in her ear and numbness in the right side of her face, her father told her to go to the hospital. “That’s when I got my MRI,” said Pfeifer, now 51. “The whole diagnosis took about six months.”
She’s the type of person who goes to the doctor at any sign of a problem, and she has a theory about why women are more likely than men to get diagnosed with MS at a younger age. “That’s because men don’t go to doctors,” Pfeifer said. She knows two men with multiple sclerosis in her hydrotherapy class who told her they ignored symptoms when they were young.
Early diagnosis is key because MS is a degenerative disease, marked by a gradual loss of function that builds over time. Treatment can slow the process.
Pfeifer was adopted and doesn’t know whether her biological parents had MS, so when she heard about the study at Children’s, she didn’t hesitate to enroll her two sons.
“When I was 12, if somebody could have looked at my brian, maybe a lot of what I went through would not have happened,” she said.
Pfeifer has managed her disease with a medication called Tysabri, which works by sticking to cells that are attacking nerves in the brain and spinal cord. The body’s immune system makes cells to kill viruses and bacteria, but with MS, those cells attack the brain and spinal cord by mistake.
The medication is “keeping my MS at bay,” said Pfeifer, who is able to walk with the help of a trekking pole.
“It is what it is”
It was a school day afternoon when Blaise learned his diagnosis. He came to find out that his parents had received a call from the doctor that day. Soon after, the family had a telehealth appointment with Dr. Teri Schreiner, a pediatric neurologist who specializes in neuroimmunology and the study’s lead pediatric researcher.
“It did take me by surprise,” Blaise said. But right away, he said, his mind shifted to, “What do I do next?”
The news, he said, wasn’t devastating, likely because he has watched his mom function with the disease his whole life. And there was no question that he’d rather know now than find out years from now, when the disease was already affecting his ability to play sports. Blaise is also on his high school lacrosse team, though hockey is his favorite.
“I just took it as face value,” the teenager said. “It is what it is. I’d rather know. If I did wait until I started showing symptoms, it would affect my life quite a bit, for my athletics and just my hockey.”
Blaise said he was reassured that every doctor he’s met has said something like, “It’s good that we caught it this early.”
“I never saw it as that bad, seeing how my mom worked through it.”
Blaise’s younger brother, Quinn, 13, went through the study two years after Blaise. He does not have MS.
Catching the disease at “the earliest possible time”
Blaise is the only pediatric patient diagnosed with MS through the Children’s Hospital study, which included 25 children. The study is for people up to age 30, and Schreiner focuses on those 17 and younger.
The study so far included 180 adults and children, of whom 27 were found to have spots on their brains that were concerning signs of MS. Two adults and Blaise were the only three people whose followup MRIs showed changes consistent with MS. None have had a clinical attack.
The study looks at first-degree relatives, meaning siblings or children, of MS patients over time, Schreiner said. So far, 53 people returned for more scans two years after their first scans.
The disease is tricky to diagnose, and involves examining changes in a patient’s MRIs over time to determine whether lesions are “active,” Schreiner said.
People enrolled in the study submit information about their environmental risk factors, and give blood to test for viral risk factors, their level of vitamin D and genetic markers. One goal of the study is to develop a more sophisticated risk score for first-degree relatives of people with MS, based on their combination of environmental and genetic factors. Another is to prevent the disease from causing physical symptoms by stopping it before it progresses.
“For Blaise and others like him, we want to catch the disease at the earliest possible time so that disability does not accumulate over time,” she said. “We know that the disease of MS actually starts months, perhaps even years, before the first clinical attack.”
Schreiner said it’s valid to consider the ethics of telling a child he has a potentially life-altering disease, and that there wouldn’t be a point if there was no preventative action. But taking medication now could change Blaise’s life, she said. Besides, for people whose relatives have MS, the “the worry is already there,” so knowing and working to prevent symptoms is better than just worrying that symptoms might develop someday, she said.
“This way we can take active steps to try and mitigate it,” Schreiner said. “I care about what Blaise looks like now. I also care about what he looks like at 50.”
Blaise and the other study participants had dye injected into their blood during an MRI so that doctors could observe how the blood acts in their brain. The dye should stay in the blood vessels, not seep into brain matter, creating lesions.
Blaise had three MRIs, beginning at age 12. The first one in 2021 showed numerous spots in his brain that are typical of patients with MS, but the spots were not active. Then two more MRIs showed new, active spots on his brain.
Yet his neurological exam is normal, Schreiner said.
Since Blaise started the medication, no new lesions have appeared. Schreiner can’t say for sure what would have happened without treatment, but she suspects Blaise would have had his first physical symptom within a couple of years.
“It could prevent him from ever getting an attack,” she said.
Blaise gets an IV injection of the medication twice per year, and while the initial treatments were at Children’s, he now does them at home. He doesn’t focus on it.
He’s much more interested in his skills at right and left wing. “I’ve been playing for such a long time, I just love the game,” he said. “It’s just what I do.”
https://coloradosun.com/2024/05/09/m...lorado/
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