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Until about five years ago, I had always been healthy and active. I played two varsity sports in college and continued to play high-level sports up until the time I got sick.

My symptoms began with muscle weakness, which I first noted as difficulty keeping up when I was playing hockey. At the time, I blamed my struggles on a recent injury and on being out of shape.

But the weakness continued, and progressed, and it was becoming obvious in other activities and in my daily life. I was clumsy, and would occasionally trip and fall. I also noticed muscle twitches and fasciculations, small involuntary muscle contractions.

After a fall down a flight of stairs, I went to see my doctor. I was referred to Dr. Erin O’Ferrall at The Neuro. She performed a muscle biopsy on me and though it was very abnormal, it was not specifically diagnostic for any single disease. And so began my diagnostic odyssey!

Our best guess right now is that I have some form of mitochondrial disease, as well as a concurrent—though possibly unrelated—potassium channelopathy. We hoped that the channelopathy was related to a recent cancer, however the cancer was treated and the problem persists. So our belief is that this component of my illness is likely autoimmune.

In any case, this appears to be an exceedingly rare—and perplexing— condition!

Because my disease affects multiple organ systems, there is very little of my life that has not been dramatically affected.

Two years ago, we moved from our home to an accessible apartment. Although all my muscles are affected to some extent, my breathing muscles are more profoundly affected than the others, and so I need to use a bipap machine—essentially a ventilator with a mask—whenever I sleep or lie down.

I have a tremor and coordination problems (no more piano or other instruments), and typing is often a challenge. I have double vision when I look to either side, seizures and cardiac arrhythmias, and have an implantable defibrillator following a cardiac arrest a few years ago.

I also have very rapidly progressive metabolic crises with extremely high blood levels of potassium. This led me to being admitted to the Intensive Care Unit (ICU) over twenty-five times.

Because of these crises, and how rampantly they progress, I cannot venture more than half an hour away from a major hospital with ICU (and preferably one that is familiar with my case). So for the past four years, I have not travelled beyond the lower Laurentians, and because I was working in a remote community in northern Quebec, I have had to give up my job.

But more distressing than any of this is my pervasive concerns about the genetic underpinnings of this disease, the implications that it has for my four children, and what their futures might hold.

The Open Science movement, through sharing of research methods, data and other resources helps prevent duplication of efforts—saving money, and of course, time. Money is always in short supply, and for many of us, time is in even shorter supply!

Sharing raw data also means that information can be looked at with fresh eyes, from different perspectives, either to provide new insights into the original question or even to help answer different questions than the ones the investigators initially set out to address.

Open access means more review and scrutiny of methods and results by peers and other scientists and thus acts as a built-in quality assurance mechanism to promote rigorous and reliable findings. Full, public disclosure also improves transparency, builds trust, and encourages patient and social engagement.

Open Science, by design, fosters cooperation and collaboration and has the potential to accelerate the pace of medical research, discoveries and innovation exponentially. This in turn increases the likelihood that there will be meaningful progress that can have very significant and concrete effects on all of our lives – both now and into the future.

This is true for all patients, and for science—and our planet!—in general, but there are two groups of patients who stand to benefit in particular.

First, there are patients like myself, who have exceedingly rare diseases. No institution, no matter how renowned, nor any single physician, no matter how expert, is likely to come across more than one of each of these cases in their careers. In order to make the connections necessary to solve these mysteries, and in order to have any notion of how best to provide treatment, extensive collaboration and communication is vital.

The second group of patients are those who have much more common diseases, but for whom there has not yet been much in the way of effective treatment or cure. This includes patients with diseases like ALS, Parkinson’s, Alzheimer’s, as well as certain brain tumours, developmental disorders, etc.

Regrettably, many neurodegenerative diseases fall into one of these two categories. Which explains why the Neuro is at the forefront of the Open Science movement!