Ingrid Kovitch: Open Science is Empowering

Mother, Daughter, Wife, Doctor, Open Science Advocate

My name is Ingrid Kovitch. As a mother of four, running a medical practice and playing high-level sports, I have tried to lead a healthy and active life. But about five years ago, I started to notice alarming changes in my body – symptoms that started as muscle weakness progressed and increasingly affected my day-to-day activities.

After a fall down a flight of stairs, I was referred to Dr. Erin O’Ferrall at The Neuro who performed a series of tests that revealed I have what appears to be a rare – and puzzling – neurological condition.

More on what brought me to The Neuro

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!

Today, there is little of my life that has not been dramatically affected. I have gone from running marathons to needing leg braces and canes to walk. I use a machine to help me breathe when I lie down. I have suffered a cardiac arrest. I have been treated in the ICU over 25 times in the past 5 years. But more distressing is my constant concern about the genetic causes of this disease, the implications that it has for my children, and what their futures might hold.

More on living with a rare, undiagnosed disease

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.

With little control over my condition, I was inspired to take an active role in my care through Open Science at The Neuro.

Open Science promotes the sharing of scientific research to accelerate the discovery of cutting-edge treatments for diseases benefiting patients, research and healthcare systems worldwide.

After meeting with Dr. Jason Karamchandani, I decided to contribute to the greater good by offering biological samples, genetic data and my clinical story to The Neuro’s C-BIG Repository.

More on what Open Science means to me and why it is important

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!

My hope is that through open communication, collaboration, and the transparent and accessible sharing of data, Open Science will speed up discovery in time to help with my own disease. And if not, in time for my four children.

Open Science is empowering. Knowing that I have contributed – in my own way – to advancing scientific knowledge that will deliver cures to patients and their families gives me tremendous solace. I believe it can provide the same comfort and sense of empowerment to all those who choose to participate.

Open Science is your opportunity to take an active role in your care and to contribute to the long-term care of others.

 

Take part in Open Science at The Neuro:

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The Neuro is a McGill research and teaching institute; delivering the highest quality patient care, as part of the Neuroscience Mission of the McGill University Health Centre. We are proud to be a Killam Institution, supported by the Killam Trusts.