It takes a community to fight for people living with ALS. This happens on many levels. One important stakeholder in this fight is the incredible ALS specialists who work day in and day out to make a difference.
We sat down with Dr. Lorne Zinman to discuss and bring to light the importance of early diagnosis, to highlight his work with ALS patients, and to find out what brings him hope for the future.
In addition to running the multidisciplinary ALS clinic and running clinical trials testing the most promising ALS therapeutics, Dr. Zinman conducts research focused on better understanding the clinical, electrophysiological and pathological phenotypes and variants of the disease. He is the founder and first chair of the Canadian ALS Research Network. Its primary purpose is to find new treatments and improve the lives of people with ALS.
Q: Dr. Zinman, thank you so much for taking the time to speak with us today. Could you start by explaining what ALS is?
Dr. Zinman: ALS is a progressive neurodegenerative motor neuron disease. A person with ALS begins to lose the nerve cells that control the muscles, and it usually starts in one area and progressively spreads throughout the entire body.
In some patients with ALS, the motor neurons in the arms or legs may start to drop out first, which is called limb-onset ALS. For others, it may begin in the speech and swallowing area, which is called bulbar-onset ALS. Regardless of where it begins, the disease typically progresses from one body region to the next resulting in patients’ inability to move their arms, their legs, to speak or swallow, and eventually, breathe. Unfortunately, most patients die within three to five years from symptom onset.
About 5 to 10 percent of patients with ALS have a family history of the disease,i and in these cases, we can identify the causative gene most of the time. However, in the majority of patients, there is no family history and we don’t understand why they developed ALS.
Q: What are some of the first signs and symptoms someone might notice?
Dr. Zinman: This is a really important point to emphasize as this insidious disease often goes unrecognized and patients aren’t diagnosed with ALS until one to two years after symptom onset.ii
For limb-onset ALS that starts in the arms, the first symptoms can be weakness in the hand whereby someone has trouble opening a water bottle, turning a key or using a nail clipper, for example. If ALS starts with weakness in the leg, someone may experience a foot drop, difficulty walking and trouble climbing stairs. For bulbar-onset ALS, patients typically first notice slurred speech followed by trouble swallowing.
ALS is considered an insidious disease because there are no sudden changes and the disease progresses linearly over time. It often begins slowly in one area of the body and then spreads to the rest of the body.
Q: You mentioned most patients aren’t diagnosed for 1 to 2 years – why does it take so long?
Dr. Zinman: One of the reasons ALS is so difficult to diagnose is because early on, when only one area of the body is affected – for example, a person is experiencing mild hand or leg weakness – the significance of the symptoms are under-recognized and often attributed to other more common causes by patients and physicians. ALS is extremely difficult to diagnose in the early phase and a definitive diagnosis is only made once the motor neuron loss has spread to other regions of the body and other more common causes are excluded.
The second reason ALS is so challenging to diagnose is because there is no reliable diagnostic biomarker that can easily be tested. In contrast to a disease like diabetes, a primary care physician can send a patient for a simple blood test such as a fasting blood sugar test, and the results will confirm whether or not they have the disease. This test does not exist for ALS and we are involved in a number of research studies to find a reliable biomarker to speed up ALS diagnosis. Until then, we will continue to diagnose ALS by confirming the presence of diffuse motor neuron degeneration that has spread over time and excluding other potential causes.
Q: Why is an earlier diagnosis for ALS patients so important?
Dr. Zinman: The earlier we can diagnose ALS, the sooner the patient can get access to our multi-disciplinary ALS team, which significantly improves quality of life and survival.iii Also, earlier diagnosis means patients are more likely to qualify for Health Canada approved ALS therapeutics which slow disease progression.
Early diagnosis is also important for research purposes as it increases the likelihood that patients will qualify for clinical trials. Similar to other diseases, like cancer, we think that earlier intervention provides the best opportunity to slow the progression of neurodegeneration. It’s like putting out a campfire before it turns into a forest fire. The earlier, the better.
Q: Can you tell us more about what an ALS clinic is, and why it’s important for patients to be referred to an ALS clinic right away?
Dr. Zinman: ALS can affect the entire body and result in complete paralysis, so it really requires a team of specialists to provide effective care. ALS neurologists are part of a multi-disciplinary team which typically includes a nurse, occupational therapist, physiotherapist, speech language pathologist, dietitian, respiratory technologist, respirologist, palliative care expert, physiatrist, and social worker. The ALS Canada regional representatives are also instrumental in assisting with care. Multi-disciplinary ALS teams provide a holistic approach to care supporting patients and family members throughout the course of the disease.
In fact, studies have shown that patients who have access to a multidisciplinary ALS care team have significantly improved quality of life versus those who don’t.iii Although we can’t yet cure the disease, there is a lot we can do to improve the patient’s day-to-day functioning. For example, we can help patients have access to mobility aids, communication devices, nutritional supplements, breathing support devices and arrange community access to optimize care and improve quality of life.
It takes a village to care for a patient with ALS and multidisciplinary care is essential.
Q: How can we begin to improve the time to diagnosis for people who may have ALS?
Dr. Zinman: I think it starts with increasing ALS awareness. Unfortunately, many people still have not heard of ALS – it doesn’t have the same level of awareness as other neurodegenerative diseases – such as Alzheimer’s or Parkinson’s disease. ALS isn’t top of mind and it’s generally not the first thing someone would think about when they have trouble opening a water bottle for example. Also, ALS is thankfully rare and most primary care physicians will only see one to two cases throughout their careers.
Increasing ALS awareness can help patients and family physicians recognize symptoms earlier in the course of the disease. This will ensure that the necessary tests and referral to a neurologist are expedited to shorten the time from symptom onset to diagnosis.
Q: Working in ALS must sometimes be emotionally challenging, what brings you hope?
Dr. Zinman: Over the past two decades of managing patients with ALS, I’ve been inspired by the courage and resolve of these individuals and continue to marvel at the incredible commitment of their families and friends.
Patients and family members affected by ALS exemplify the best in human nature. I see the resilient fighting spirit of patients battling this dreadful disease – living one day at a time, staying in the moment and focussing on all the positive elements of their lives. I’ve witnessed the best in humanity when I see incredible family members and caregivers selflessly committing themselves to the care needs of their loved one no matter how challenging.
We are in this together and, along with my colleagues and partners working in ALS, we continue our commitment to finding solutions to make every day better for our patients and we’ve never been more hopeful that better days lie ahead.
ii Hodgkinson VL, et al. Provincial Differences in the Diagnosis and Care of Amyotrophic Lateral Sclerosis. Can J Neurol Sci. 2018 Nov;45(6):652-65.
iii Van den Berg JP, Kalmijn S, Lindeman E, Veldink JH, de Visser M, Van der Graaff MM, Wokke JH, Van den Berg LH. Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology. 2005 Oct 25;65(8):1264-7.