2023-06-25 00:48:31
He might never have predicted that within a week he would totally lose his sight, regain it following treatment, and then suffer relapses over the ensuing years.
This text is a translation of a article from CTV News.
And now, at the age of 41, Murphy, who lives west of Montreal, is also eager to help publicize a study involving Montreal scientists that is testing a drug they hope can calm this condition and stop the risk of permanent blindness over time.
At the age of 35, he was otherwise healthy and didn’t suspect his symptoms were anything serious until he realized the headaches weren’t going away. After the third day, in severe pain, he started to see ‘strange little spots’ and decided it was time to go to a hospital for help.
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Doctors ordered a whole battery of tests, performed a lumbar puncture, and ruled out the possibility of a brain tumor, but they mightn’t make a diagnosis.
Murphy was admitted to hospital. They did more tests, tried to ease his pain and observed him. They checked for a stroke and placed him in isolation in case he contracted any contagious virus.
It turned out Murphy was in for a terrible shock.
“I woke up in the morning to the nurse taking my constants and I might feel the blood pressure cuff on me, and I said, ‘Oh it’s okay, you can turn on the light. And they turned on the light, but nothing changed. And that’s when I realized, like, oh wow, I can’t see anything,” Murphy said.
“I didn’t know if I was going to be able to see my children once more,” aged three and one at the time, he said, describing the devastation and panic he felt.
Dramatic case
He was immediately transferred to the Montreal Neurological Institute for specialized care.
The neurologist and director of the multiple sclerosis (MS) clinic who was treating him that day remembers their first meeting well because of the “striking presentation” of symptoms.
“We see patients all the time at the MS clinic and when patients present to the hospital and are admitted upstairs, we see many dramatic episodes of neurological dysfunction,” says Dr. Paul Giocomini.
But the case before him was unusual even for a patient with multiple sclerosis – something Murphy suffered from.
“It was very intense and dramatic and involved both eyes. The speed with which he lost his sight was quite staggering. And that’s one of the telltale signs that made us think it might be another type of neuroinflammatory disorder.”
The hallmark, Giocomini said, was how both optic nerves were affected simultaneously or sequentially. This occurrence made a diagnosis of multiple sclerosis less likely.
Instead, the medical team suspected Murphy had myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD), a rare demyelinating disease that affects the optic nerve, spinal cord and brain.
MOGAD, often confused with MS
It is a rare disease. A Quebec registry shows it only affects regarding 60 people in Quebec, although other patients might not know they have it because the condition looks like inflammation of the optic nerve, a common symptom of multiple sclerosis.
“Patients like Brett who have this disease can sometimes be confused with MS, and it’s important to make that distinction because treatments for MS don’t necessarily work for MOGAD,” he said, even though the MOGAD is considered part of the MS family.
The disease is relapsing-remitting, which means that patients can go for long periods of well-being and stability without showing symptoms.
“And that can be falsely reassuring because these attacks can recur,” Giocomini said. “And with each subsequent episode, even when treated aggressively, there is always the risk of permanent vision loss or permanent neurological damage.”
Doctors decided to immediately begin Murphy’s treatment for MOGAD with high doses of corticosteroids for several weeks, while awaiting the results of a confirmatory antibody test that would take several weeks.
“We also link this to a treatment called plasmapheresis, which is blood filtration, similar in some ways to dialysis, but to remove the antibodies that are important and cause disease,” Giocomini said.
Slowly but surely, the treatments began to work and the darkness began to lift for Murphy.
“I woke up one morning and might see the outline of these lights on the ceiling. Oh my god, it actually works,” Murphy said, recalling his reaction at the time.
“I might go blind and stay blind forever.”
Antibody testing confirmed the diagnosis. The pieces of the puzzle fell into place. But in many ways, the battle was just beginning for Murphy and his doctors.
He has had two more episodes of MOGAD since then and has had to rush to the ER each time symptoms arise. His vision has been restored, but his optic nerves are damaged each time.
Also, the corticosteroid treatments, which doctors now give him preventively from time to time in an attempt to suppress the attacks, are unreliable and have long-term side effects.
However, there is hope that a new study can help determine if there is a treatment to prevent further episodes.
“We are part of an international, multi-center study evaluating an existing monoclonal antibody therapy that has been used in neuromyelitis optica spectrum disorder, a related condition,” Giocomini said.
“This therapy targets inflammatory messengers, and this treatment mechanism has actually been used for many years in other inflammatory diseases, such as rheumatoid arthritis,” he said.
Individuals diagnosed with MOGAD are encouraged to consult with their doctor if they wish to participate in the clinical trial to determine if they meet the study criteria.
Since Murphy is now in remission, he doesn’t meet the criteria, but he hopes others will come forward to help a community of patients get more answers.
“I might go blind and stay blind forever. I might lose color perception, or maybe never be able to drive a car once more. So having access to a drug specifically designed to treat this disease would be a real revolution,” he said.
Murphy added that pharmaceutical companies aren’t always there to provide treatment for people with a rare disease, “but it still affects people and has a major impact.”
“It’s through studies like this and clinical trials like this that these drugs become available.”
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