ALS
Jake’s experience with Amyotrophic Lateral Sclerosis and what to expect going forward.
Spoiler Alert: ALS sucks. But there is also reason for hope. Learn more so you can join us in helping Jake overcome as many obstacles as possible.
Amyotrophic Lateral Sclerosis, ALS, Lou Gehrig's Disease. Whichever of these titles you’ve heard or are familiar with, there was likely an image that popped into your head immediately afterwards about what the disease looks like to you. Maybe it’s a family member or a friend fighting this battle, maybe someone famous like Stephen Hawking, but in any case there is often an associated sense of futility that comes with ALS given the absence of a known cure.
If you haven’t caught on, ALS is pretty awful. Not only is it incurable, but ALS is also unforgiving in nature. The information below is meant to give you honest insight as to how this disease works and what Jake might be facing both now and in the future.
With that said, and before we go any further, you should know that there is hope. The ALS community has made positive steps forward in treating this illness with breakthroughs from clinical trials in disease management.
The organizations above inspire us and give us hope that a cure for ALS is on the horizon. Click the logos to learn more and find out how you can help.
ALS is a terminal, progressive motor neuron disease that advances at different rates depending on the person carrying the diagnosis, eventually leading to paralysis and ultimately death.
The disease affects both upper and lower motor neurons that are the pathway of signaling between the brain, spinal cord, and muscles. If we think of these motor neurons as channels or rivers that would normally provide seamless exchange of information between the brain and muscles, ALS affects this process by gradually cutting off the flow to these rivers until they become permanently dry, killing that specific channel and rendering the muscle that is on the end useless. Because that muscle at the other end is no longer being fed by the steady flow of signals from the brain, it no longer moves, which leads to atrophy or shrinking, weakening, loss of sensation and finally paralysis.
How do you diagnose ALS?
The road to diagnosis of this disease is tricky because it can present as very subtle symptoms and is often a diagnosis of exclusion (meaning we rule out other conditions and are eventually left with ALS once the symptoms have no better explanation).
In Jake’s case, there was some stiffness and spasticity in the legs that wouldn’t seem to go away despite stretching along with some changes in transient weakness and tingling in the hands. The coordination of care in this case went through the family doctor and multiple neurologists that assessed blood work, imaging, and other specialized tests. After nearly a year of maneuvering the pitfalls of a fax driven healthcare system operating at limited capacity amidst a pandemic, Jake arrived at the Sunnybrook ALS clinic in Toronto, about an hour away from where he currently lives.
What happens next?
There are generally two pathways the disease takes, limb and bulbar. In Jake’s case, he is taking on a disease that is starting peripherally with his arms and legs, causing spasticity, rigidity and weakness leading to altered gait and function. Bulbar onset generally carries a worse prognosis and starts in the throat, altering things like speech, and swallowing. Both pathways lead to the same eventual outcome where use of arms, hands, legs, chewing, speaking, swallowing, breathing all will become compromised.
There is nothing Jake could have done to prevent this given that 90% of ALS cases are sporadic in nature (like Jake’s), and the other 10% are genetic or familial and can be passed down. He is however outside of the expected range in terms of disease onset. At age 30, he is well below the typical bracket of 55-75 years of age.
According to the National Institute of Neurological Disorders and Stroke, “Most people with ALS die from respiratory failure, usually within 3 to 5 years from when the symptoms first appear. However, about 10 percent of people with ALS survive for 10 or more years”. We know Jake is doing everything he can to be a part of that 10%, which is why we are doing everything we can to help him make the most of this uncertain timeline.
What about a cure?
Jake is currently being treated at:
Sunnybrook Health Sciences Centre
Tragically, at this time there is still no known cure for ALS. There are clinical trials that are ongoing and a great deal of research is underway, made possible by the generous contributions of fundraising communities across the world. Jake is currently enrolled in one of those clinical trials and is a contributor to the ALS biobanks which serves as a critically important resource for scientific advances towards treatment and hopefully a cure.
Presently, Jake is on a number of different medications to manage symptoms of his ALS.
Edaravone (commonly known as Radicava) is an intravenous (IV) medication that Jake gets in repeat cycles of 10 days (out of 14) on, followed by 14 days off, with medication delivery lasting about 1 hour per treatment at home administered by a home-care nurse. Edaravone has been clinically shown to slow progression of functional decline in patients with ALS.
Riluzole is a daily oral medication that is believed to reduce damage to motor neurons, but does not reverse damage already done.
Ibudalast (MN-166) is a daily oral experimental medication that Jake may or may not be receiving through his enrollment with the COMBAT-ALS clinical trial. Through its mechanism of action it’s hoped that Ibudalast may suppress inflammation and assist in the growth and survival of motor neurons. In this clinical trial, the experimental group will get the real Ibudalast pills for a study period of 12 months and then have the option of continuing for another 6 months on an open label extension. The placebo group will get pills that looks like the real medication but have no therapeutic effect for a study period of 12 months, and also have the option of receiving the real therapeutic medication given in the experimental group (Ibudalast) for 6 months on an open label extension after the initial study period. It is unknown which group Jake is in as this is a randomized, double-blind, placebo-controlled, parallel group study. To find out more details about this clinical trial, please click here.
In an effort to manage some of the muscle spasticity and stiffening symptoms of ALS, Jake is also trialling combinations of anti-spasmodic medications like Baclofen and Tizanidine.
This is just a glimpse of what Jake is going through in terms of daily medication regiment and is not all-inclusive. It should also go without saying that this information should not be considered medical advice for others in any way and has been initiated under the careful and closely monitored guidance of specialists involved in Jake’s care team.
