Barrie social worker with ALS shares his story
Chris McCauley is shown in his Barrie home. SUPPLIED PHOTO
"I won't die on you", that’s what I told my wife before we married.
There was much life to be lived. We were only in our mid to late forties, we were going to live to our nineties ... time for redemption ... time for new life.
So we’d hoped until a Costa Rican neurologist observed during an emergency hospital stay, "that looks like ALS (Amyotrophic Lateral Scerlosis)."
He was referring to mysterious muscle twitching in my arms and legs. Needless to say, getting a diagnosis of a neuro-degenerative disease with a terminal prognosis was not in our vacation itinerary!
My diagnosis was confirmed two months later. Instead of looking forward to establishing a home, buying a house and thriving in career and community, we were doing our best not to deny the opposite reality stemming from a body rapidly betraying me, a steep loss of income and constant uncertainty, disappointment and stress.
In the blink of an eye, we went from planning our wedding to planning a funeral. Life serves a cruel fate and I am made amazed by my inability to imagine my own death.
William Knoxs’ poem, ‘Oh why must the spirit of mortal be proud’ resonates too well. I know life is fleeting and death comes to us all but, my heart says "hey not me, not yet, not this soon."
Perhaps pride shields us from the anxiety of death’s inevitability, not in that we deny death, leading to dysfunction and needless suffering. Nor in a way that is too accepting of it, but in a way that helps us live, helps us continue on despite its omnipresence.
I think of others who will come after me and like me, lose the blossom of their health so insidiously. I want to do something to make it better.
As I confront my own mortality, this desire is a comfort that helps me live on.
In 2019, the 150th anniversary of the identification of ALS by the French neurologist, Jean-Martin Charcot, will be upon us. Despite the fact that ALS is considered relatively rare, the economic and social burden to society is substantial.
On average, people with ALS ('PALS') live three years after symptom onset. There are approximately 3,000 people in Canada living with ALS.
Every year, 1,000 people will succumb to the disease and 1,000 will be diagnosed. This means roughly that today’s cohort of 3,000 will be largely replaced in three years by others who will live the experience of this relentless disease.
Looking back three years to a previous cohort, Denis Heath from Quebec’s Eastern townships died in February 2012. He died knowing, as shall I, like those in all cohorts before and since then, "the disease has been around awhile with no sign of a cure, nothing much new."
The announcement of the National Neuro Muscular Disease Registry (cndr.org), in 2011, gave him reason to be pleased at the prospect of moving ALS research forward. Disease registries provide crucial data for studying the health of populations, answering basic questions of who we are, where we live, how old we are, and what kinds of work we do - helping to determine environmental factors contributing to cause of the disease.
Recently, I joined the registry. I was very surprised that it took 11 months to get in, particularly when there is a small window of opportunity to study and get PALS to participate in research, especially when ALS researchers identify that PALS participation rates in research are low.
Later, I learned the delay was due to a mis-communication between administration staff.
I almost did not make it into the disease registry due to a hospitalization from serious respiratory distress last fall. I am now in because of my own persistence and interest in research.
Along the way, as I acquired an understanding of the status of ALS research and the important role of disease registries, I began to wonder how disease registries could play an even greater role in dealing with an intractable disease.
At present, no significant treatments have been produced from ALS research because there are huge amounts of variation in ways the disease presents itself. The origin and development of the disease is not well understood. There are multiple causes and various biological processes.
The disease produces different physical dysfunction in different people at different rates of decline. There are sub-groups with differing survival rates, leading researchers to believe ALS is more than one disease.
These considerations make developing new therapies immensely challenging.
For example, if treatments are developed without a clear understanding of causal factors, the treatment may work for some but not for others. However, even knowing it worked for some would be difficult to discern if clinical trials involve PALS who have varying forms of ALS. This variance is problematic and can skew results, thereby obscuring treatment effects.
Another example is when a trial involves PALS with different rates of survival. In such trials, it is difficult to determine the effectiveness of a drug because it is unclear how to attribute the patients’ survival. Is it the drug or the natural course of the disease? In other words, would they have lived regardless?
Hardly an exhaustive explanation, but one can start to see how organizing the PALS population into similar groups becomes necessary and how a disease registry becomes a powerful tool toward such an integral goal.
ALS researchers indicate the genetic components are likely part of the causes of the variance in presentation between PALS. If the genetic causes become known (only 15% of genetic causes of the majority of ALS cases are known), this will allow the variance in the PALS population to be defined and catalogued.
Currently, there are international genome sequencing projects underway, such as projectmine.com in the Netherlands and rarediseasesnetwork.org/cms/create/ in the USA, that DNA profile ALS.
Such knowledge will allow ALS researchers to organize PALS population into similar sub-groups by common genetic cause, biological pathway and progression. This capability will lead to a more targeted design of clinical trials, making identification of promising drug therapies for each sub-group easier.
The PALS community needs to be engaged and mobilized to contribute to research and development of treatments for this devastating disease.
PALS, despite suffering the effects of the disease, can be very influential and contribute by joining the disease registry and participating in genome sequencing. The $3,000 cost takes one week.
A new policy that ensures PALS registration into cndr.org at the time of diagnosis should be considered.
A national campaign to genome sequence 3,000 PALS in Canada through international partnerships could not only help lead to new treatments for ALS, but also help pioneer an innovative approach applicable to other rare diseases such as Huntington’s Disease, Parkinson’s and Cystic Fibrosis, that benefits 2.5 million Canadians.
Patient-powered registries that exist in the United States are a model for patient advocacy, but that would be a whole other article (see creakyjoints.org).
PALS participation in cutting-edge genomic research is pivotal for understanding the interacting genetic and environmental causes of this disease. Also, an organized PALS community affords improved readiness for the clinical trials process when new discoveries show promise.
These actions will complement vast efforts already occurring in understanding the disease at the cellular level, and in the setup of translational research networks (getting treatments from the lab to the patient quicker) between our universities and research hospitals.
Now, that would be something new and hopefully for the better.
Chris McCauley a social worker and policy research analyst living in the Barrie area.
The Walk for ALS will be held Saturday, June 11, from 9 a.m. to noon, starting at the ANAF Club, 7 George St.
Join thousands of Canadians in the fight against ALS by participating in one of our fun, family-friendly events across Canada. For more, visit walkforals.ca.