diagnosed with als: managing stages, treatments and support
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amyotrophic lateral sclerosis, or als, is a rare disease — it afflicts only about 3,000 canadians. so while it may not touch the lives of most, for those newly diagnosed, finding reliable information, knowing where to go, who to talk to, what supports and treatments are available, and what research is being conducted, can be overwhelming. but there are resources available, and accessing them can greatly improve the lives of those living with als, their caregiver and their family.
here’s how to manage an als diagnosis.
what is als?
als is a neurological disease that affects nerve cells (motor neurons) in the brain and spinal cord, causing progressive paralysis when the brain is no longer able to communicate with the body’s muscles, causing the muscles to break down and stop functioning altogether, according to the als society of canada.
while the disease affects everyone differently, and affects different regions of the body and at different rates, all patients eventually lose the ability to walk, talk, eat, swallow and breathe. it generally does not affect mental functioning or the senses, and is not contagious.
in about 80 per cent of cases, als is fatal within two to five years of diagnosis, although many people can live decades longer. experts still don’t know exactly what causes it, although genetics and environmental factors play a role.
there are two main types of als: sporadic, which makes up about 90 per cent of cases, and familial, or inherited, which accounts for about 10 per cent of cases. this last type offers the most promise for finding an effective treatment for all cases, says dr. david taylor, vice-president of research and strategic partnerships with the als society of canada.
“we continue to use those genetic forms to develop models to better understand why motor neurons, the neurons that degenerate and die in als, are susceptible to the disease,” says taylor. “[then] we can understand the pathology from those models that [will] allow us to ultimately find therapies that work for [both forms].
sponsored by:
als society of canada (als canada)
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“we know that there are a certain number of genes that, when you have a mutation in one of those genes, can cause als in that individual, [and] it gets passed on from parent to child. we are using those as models to understand why a mutation in one gene can cause the motor neuron disease, and then another gene which encodes a completely different protein working in a completely different pathway also does that. we’re honing in on it, but we’re not there yet.”
als treatments and disease management
there is no cure, and current treatments focus on symptom relief and, in some cases, slow progression in the early stages.
there are three health canada approved therapies: edaravone (brand name radicava), sodium phenylbutyrate/ursodoxicoltaurine (brand name albrioza), and riluzole (brand name rilutek). while in use, edaravone and sodium phenylbutyrate/ursodoxicoltaurine continue to undergo clinical trials in canada because some researchers aren’t fully convinced that they have any significant effect. taylor expects results of those trials will be released in about a year.
also, if patients have a specific mutation called superoxide dismutase 1 (sod1), the first genetic mutation that was found to hereditarily confer als, he says they could respond to a treatment called tofersen (brand name qalsody). this spring, the fda in the u.s. granted accelerated approval for the drug, while it remains in clinical trials in canada.
other treatments can include medications for painful muscle cramping, excessive drooling, antidepressants for mood, physical therapy to help with muscle stiffness and mobility, as well as complementary therapies that can include aromatherapy, acupuncture, massage therapy, and whirlpool therapy.
the key is to detect the disease early enough for these therapies to make any measurable difference in the lives of patients. but because some symptoms mimic other diseases and conditions, such as muscular sclerosis and primary lateral sclerosis, it can take a long time, sometimes years, to get an official diagnosis.
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and because the exact cause of als has not been fully determined, researchers have no idea who, apart from those with a genetic mutation, will get it. this is why a number of studies are tracking and monitoring those who have that genetic mutation to look for any changes in their blood or spinal fluid before they start to develop symptoms.
navigating the healthcare system in canada after an als diagnosis
the earlier the disease is detected, the earlier people get treated and the better the chance they have of responding to the treatments and perhaps extending their lives.
one of the barriers to an early diagnosis, however, is that many people who would never imagine they have als don’t recognize the signs. if they experience muscle weakness or a slight change in their speech, they may assume they’re simply tired or stressed. so they put off seeing their family doctor.
when they finally do go, that doctor may not have dealt with als before, so he or she might not recognize it right away. while the patient waits for a referral to a neurologist or als specialist, which can often take weeks or months depending on where they live, the disease progresses.
when they do meet with a specialist, he or she will run a battery of tests, which can include blood and urine tests, electrodiagnostic tests, such as electromyography (emg) and nerve conduction velocity (nvc), mri, muscle and nerve function tests.
genetic testing is not usually done, but if someone has a family history of als, they can opt for it to see if they inherited the gene mutation that would put them at a higher risk. a clinician at one of the als clinics across the country can connect those interested with a genetic counsellor.
when patients do finally get the official diagnosis, the journey through the healthcare system begins.
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emily moffatt, community lead at the als society of canada, says the first stop should be to register with the society in order to seek support and services at a local als clinic. these multidisciplinary centres provide assistance to patients, their caregivers and their family, help with navigating the healthcare system, provide information, resources and education, either in-person or virtually.
“we can help point them to home care, support groups, equipment rentals such as walkers, ramps or wheelchairs, how to get home or vehicle modifications, how to connect with a speech language pathologist, or an occupational therapist [for home modifications]. we help build a team of supports around them before they are in a crisis,” moffat says.
the stages of als and treatment options available
at each of the stages of als, a patient’s care changes, with more and different supports and specialists necessary, so it’s important to be continually monitored.
at first, they may need a walker as the muscles in their legs weaken. as deterioration progresses, they’ll likely need a wheelchair. as the muscles in their arms and shoulders deteriorate, they may benefit from seeing a physiotherapist to help with stiffness and mobility.
changes in speech are common with als, beginning with slow, slurred speech or a hoarse voice, and working with a speech therapist can help with stretching or massage. as speaking gets more challenging, the therapist can advise on the right tools for use to maintain or improve communication, such as message and voice banking systems, which allow patients to use their own voice in a speech generating device or text-to-speech app to communicate. message banking can record common phrases and expressions a person uses that are then delivered in their unique cadence.
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as upper and lower motor neuron degeneration begins to cause difficulty swallowing, patients may rely on a registered dietician/nutritionist for strategies to help, such as taking small bites, tucking the chin down to the chest, or double swallowing with liquid.
wendy toyer, executive director for the als society of british columbia, says that as technology advances, patients are accessing high-tech equipment to help with eating.
“the obi robot is a feeder that you work with your foot or thigh muscle, anywhere you have some mobility, that picks up the food and brings it up to your mouth and puts it back down. it’s so compact you could take it in a bag or purse to a restaurant and feed yourself.”
at more advanced stages, malnutrition can set in due to difficulty swallowing, according to als pathways, so health-care teams may recommend a percutaneous endoscopic gastrostomy tube, which is inserted directly into the stomach to deliver food, liquids and medication.
as muscles in the chest weaken, breathing can become difficult — and deadly. respiratory problems are a primary cause of death in people with als. a respiratory therapist can help with breathing techniques and exercises, as well as coughing, which helps clear the lungs and airways.
eventually, patients may require a mechanical ventilator, either a noninvasive type, meaning no incisions are necessary, but rather air is delivered through a nasal or special face mask. tracheostomy ventilation requires surgically creating an opening at the base of the throat to bypass the vocal cords and mouth.
other support available for als
aside from regular communication with their family doctor and als specialist, those living with the disease can access patient groups, community health service centres, dieticians and pharmacists for further information and support.
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for emotional and mental health supports, moffatt says als clinics can connect people with a social worker, mental health counsellor or psychotherapist. there are also many online support groups for those living with als and their caregivers. she says the als society divides its virtual support groups into three components: one for client only, one for caregiver only, and one for both client and caregiver. “and if they need more individual support, we can reach out to local resources to ensure that they feel connected.”
moffatt says the society can even help with respite services for caregivers. although, depending on the caregiver’s location, wait lists for those can be long. in the end, the society or the patient’s doctor can arrange palliative care or provide information on medical assistance in dying (maid).
als in constant need of funding
accessing all the supports a patient needs as the disease progresses can be expensive, putting a strain on their finances, especially when they’re no longer able to work.
toyer says that, previously, without an extended health plan, newly diagnosed als patients were essentially on their own. the als society of british columbia, she says, was formed to help those without insurance, allowing equitable access to all the programs, including free equipment loans.
“one of the most expensive things about the disease is the medical equipment required, which can run upwards of $150,000 over the course of the illness — just for the equipment, not including caregiving, et cetera,” says toyer. “our equipment loan program costs upwards of $1.5 million per year, which includes the equipment, the sanitation of it when it comes back, the inspections, the maintenance, and replacing it.”
thanks to the society’s advocacy work, medication, which can cost thousands of dollars per year, is covered in most provinces through their various health programs.
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to help cover out-of-pocket expenses, such as technological adaptive devices or hired caregivers, people can also apply for financial assistance through the canadian disability tax credit for als.
research, therapeutics, health care, and supports all cost money to the system as well, and it’s somewhat surprising to learn organizations like the als society operate almost exclusively on private donors and their own fundraising efforts.
taylor says it’s not nearly enough. “it’s still maybe one or two per cent than the annual global funding [for] most treatable diseases like heart and stroke, cancer or hiv. in als, globally, we’re talking $100 million, $150 million a year, and maybe in the billions for cancer. it’s hard to solve a more complex disease with less money.”
the challenge to treat and manage als
early diagnosis eases outcomes, but getting access to drugs quick enough for them to have an effect is also a challenge, says toyer.
“when health canada approves a drug, it goes to the pan canadian pharmaceutical alliance (pcpa) where sometimes it could sit for years. then, if they recommend it to be covered with the provincial formulary [drug benefit plan], the pharmaceutical company has to approach each province separately and negotiate as well as they negotiate with the private insurance companies,” she says. “what has to change is that lag between health canada and the pcpa actually approving it for the provincial formulary. in the case of als, people do not have the luxury of time. in many cases, these new treatments have set criteria so that if you fall under the criteria as far as, say, breathing or how far you’ve progressed, you’re not even eligible to get the prescription.
“in b.c., we’ve been fortunate to have a very good relationship with the b.c. united party as well as the ndp and they’re unanimously supporting our project hope [which funds research]. in politics that doesn’t happen very often. but that’s for research and clinical trials, not for patient services. our patient service programs are funded by foundations, grants and fundraising.”
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ultimately, progress on finding effective treatments and research that helps to better understand the cause of als is frustratingly slow. but taylor remains optimistic. “there are a number of clinical trials underway in canada at any given time,” he says. “we’re encouraged a lot by this sod1 therapy [tofersen] because it shows that we could probably affect the disease in certain people if we hit the right target. [researchers are hopeful it can even prevent the onset of the disease altogether.]
“i really do feel hope. i’ve been [studying] als for 21 years and i genuinely feel we’re getting closer. the heartbreaking piece is that it’s a disease that has rapid progression and, for anyone diagnosed right now, we know it won’t be fast enough. we just have to keep pushing to try and get there as fast as we can.”
for more information, support services, research updates and events for als, go to the als society of canada, or als pathways for patient tools, caregiver support, and podcasts that cover a range of als-related topics.
robin roberts is a vancouver-based writer.
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