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‘Let’s make history’: what one man is doing about living with ALS

Man outside

The name J.D. is being used to maintain patient confidentiality


J.D. knows that what he is doing will not cure him of ALS or ease his symptoms – but he’s willing to do it anyway.

He is the first ALS patient in the world to participate in an historic study by Sunnybrook researchers. In April 2018, they began investigating the safety of using MRI-guided focused ultrasound (FUS) to open the blood-brain barrier (BBB) in people with Amyotrophic Lateral Sclerosis (ALS).

“Ultimately, it may not help me but it’s certainly going to help advance the science,” says J.D. “Anything we can do, individually or collectively, to get us to a place where this horrible disease can be, if not cured, at least, managed, I think that will be an amazing day. Hopefully, that day is not too far away in the future.”

ALS, BBB and FUS explained

ALS, also known as Lou Gehrig’s disease, is a motor neuron disease. In J.D.’s words, “It is relentlessly progressive.”

Over time, the brain stops sending messages to voluntary muscles and people living with ALS eventually lose the ability to walk, talk, eat, move and breathe. In the majority of patients, the cause of ALS is unknown and there remains no cure.

The BBB is like a protective wrap that keeps harmful toxins and bacteria from entering the brain. Researchers say, while this is important, the BBB is also blocking medication and other therapeutics from getting into the brain that may actually help treat a disease.

FUS is an incision-free, image-guided technology that uses thousands of ultrasound waves to target specific areas of the brain. In this study, low-intensity FUS causes microbubbles that have been injected into the bloodstream, to vibrate and create small temporary openings in the BBB.

Not only is the trial itself a world first; for the first time ever, researchers are also opening the BBB over the motor cortex, an area of the brain that controls voluntary movements.

“This innovative technique represents a key paradigm shift,” says Dr. Lorne Zinman, director of Sunnybrook’s ALS clinic, which is the largest of its kind in Canada. “It is a non-surgical way of opening the blood-brain barrier, and if proven to be safe in ALS patients, it will be a game-changer in the fight against this disease. It may one day provide us a window to try a number of the most promising ALS therapeutics.”

This Phase 1 trial will test the procedure in eight patients with ALS over the next year. By mid-2019, the goal is to move to a Phase 2 study, which will involve a greater number of patients and possibly a therapeutic.

» Learn what this trial means for patients and how to get involved

“All right. Let’s make history.”

On the historic first day of the clinical trial in April, “Everyone was totally vibrating with excitement and anticipation,” says J.D. as he describes the atmosphere in the room.

J.D. recalls a memorable moment he shared with Dr. Zinman, “I stuck out my hand to shake his hand and said, ‘All right, let’s make history!’” J.D. goes onto explain, “Dr. Zinman paused for a second and started to chuckle saying, ‘You just stole my line. I was about to say that!’ And I said, ‘Great minds think alike!’” J.D. laughs.

“J.D.’s courage and confidence was exactly the inspiration we needed that morning,” Dr. Zinman says smiling at the memory. “His participation in this trial really speaks to the kind of person he is. He literally put his body on the line to help us determine if this novel intervention is safe and can be used in the future to help other patients with ALS.”

» Go behind the research in a Q & A with Dr. Lorne Zinman

What it is like to live with ALS

If you were to speak with J.D. on the phone– you would never know that his body is breaking down. He is personable, eloquent, and his infectious energy and laughter fill the phone lines.

At this point, his voice is strong. It reveals nothing of the ravages of ALS that he is living with, but with each conversation things are getting worse.

“As you go through this and you go from cane to walker to wheelchair, it’s not great making your peace with no longer being able to walk or even drive a car. There are so many things you can do to modify your life operating from a wheelchair, but once your hands go – you really, really appreciate how you’ve taken them for granted all your life.”

“ALS is relentlessly progressive and incurable,” he says. “It takes all the things that you might have on your ‘to do’ list – your list of future goals and objectives – and it either blows that all apart because of the physical limitations that you will suffer from, or it compresses all of that into real time.”

J.D. says he has found a sense of community in ALS support groups. “You go through the stages of grief, but I think, eventually you come out the other end. There are no more tears to shed and you just have to come to the point of acceptance to try to adapt and make the best of the situation. So, it certainly makes you appreciate not only life but also appreciate that life is short.”

For J.D. being a part of the world first study and a pioneer in ALS research at Sunnybrook is exciting. “I’m encouraged and not living a life of despair because I have a lot of productive distractions. I’m also totally fascinated, and truly believe that they are right on the cutting edge now.”

 

Learn why Sunnybrook is a global leader in focused ultrasound research and clinical trials

About the author

Jennifer Palisoc

Jennifer Palisoc is a Communications Advisor at Sunnybrook.

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