INTRODUCTION — This topic was written by an individual patient diagnosed with amyotrophic lateral sclerosis (ALS). It is intended to offer clinicians insight into the experience of a single individual from that individual's point of view. This description of a particular patient's experience is not intended to be comprehensive or to provide recommendations regarding diagnosis, treatment, and/or medication information. It is not intended to be medical advice or to be a substitute for the medical advice, diagnosis, or treatment of a health care provider based on the health care provider's examination and assessment of a patient's specific and unique circumstances.
For related clinical topics, please see:
●(See "Epidemiology and pathogenesis of amyotrophic lateral sclerosis".)
●(See "Clinical features of amyotrophic lateral sclerosis and other forms of motor neuron disease".)
●(See "Diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease".)
●(See "Symptom-based management of amyotrophic lateral sclerosis".)
●(See "Disease-modifying treatment of amyotrophic lateral sclerosis".)
BACKGROUND
Initial signs and symptoms — My first symptoms of concern were in December 2016 on a cross-country skiing vacation when I was 57 years old. We had skied in Quebec during many year-end holidays and I knew the trails well. However, on this trip, I had trouble maintaining balance on the last downhill run each day. I fell once or twice each day on this trail and sometimes had to take my skis off to get back on my feet. I shrugged off the falls as end-of-day fatigue.
In the following winter months, I had several inexplicable falls while walking our dog when I lost my balance and landed on my back. I considered these falls strange, but not concerning enough to seek medical attention. The following spring, I fell several times carrying a kayak across a beach. At the time, I thought this could have been due to the uneven surface of the loose sand.
Although I initially thought the falls were an infrequent nuisance, I also began to notice other balance problems. My walking had become a bit slower, and I noted that I had to be more deliberate to safely maintain balance walking up outdoor steps when carrying a load of firewood.
Though I did not make the connection until after my diagnosis, for at least four years prior to being diagnosed with ALS, my wife complained about twitching when I held her in bed at night. I was unaware of these symptoms until they were raised by the diagnosing neurologist. I had also reported cramping in my feet and calves to my primary care physician (PCP) two years before I reported balance issues.
DIAGNOSIS
Seeking medical care — I ignored the falls for almost six months. Approaching my annual physical in June 2017, I decided to discuss them with my primary care physician (PCP), along with accumulated stress from the previous 12 months (my father-in-law and father had died three months apart in 2016; I had been through three different very high stress work situations; and I had been traveling extensively for work).
I did not want to spend 14.5 minutes of a 15-minute managed-care appointment trying to describe all of these issues, so I wrote my PCP a page-long email the night before summarizing the stress, intermittent falls, and balance symptoms. The email concluded: "Overall, I feel like I'm coming into this year's appointment feeling much less limber than any time in the past (putting on socks is harder than it used to be), and in some ways not as strong as I used to be (eg, I have to work to put a full suitcase in the [airplane] overhead storage bin, but I can still lift a 40-pound box of firewood easily)."
Initial evaluation and testing — At my physical, my PCP focused on the neurologic symptoms I had described in my preceding email. He examined me thoroughly and noted some areas of weakness in my arms and legs. Because of my balance issues, I was not surprised that my left leg appeared a little weak; however, I was caught off guard that my left arm seemed weak. My PCP immediately ordered testing. The first test was a lumbar magnetic resonance imaging (MRI); 48 hours later the result was negative. Next, I had a nerve conduction study and electromyography (EMG). The earliest appointment was six weeks later. At the appointment, the neurologist quietly went about her work and after 45 minutes she asked if I could stay longer because she wanted to test some additional muscles.
The next morning, I received an email from my PCP asking me to meet at his office two days later. My wife, sensing something serious, joined me for the appointment. My PCP explained that the EMG showed "active and chronic denervation with fasciculations in all four limbs," but was inconclusive as to the cause. Through this appointment, my PCP remained calm and never speculated about a possible diagnosis or hinted that the EMG result might indicate a serious problem. He recommended that we follow up with an MRI of the cervical spine and a muscle biopsy. In addition, he advised that I make appointments to see two neuromuscular neurologists.
Throughout this time, I followed my PCP's instructions without asking any questions. I had a good relationship with my PCP and trusted him to do his job. I naïvely assumed there must be some minor issue that could be resolved with a pill, some physical therapy, or minor surgery. By disposition, I am someone who tries hard not to worry about things that are beyond my control. Additionally, I was busy with my job, family, and a new waterfront cottage in Maine. I never Googled "active and chronic denervation with fasciculations in all four limbs." I remained completely unaware as to the severity of my situation and to this day remain grateful that two months of complete ignorance allowed me to enjoy most of that summer.
Receiving the diagnosis — I met with the first neurologist two months to the day after first discussing symptoms with my PCP during my annual physical. After a 15-minute exam, he asked me to put on my clothes and left the room. A few minutes later, after a gentle knock on the door, he re-entered, sat down on a little round chair, and wheeled himself up close. He looked me straight in the eye and asked, "Do you have any idea what's going on?" I replied, "None at all." He drew breath and said, "This is going to be a hard conversation. I think you have ALS."
We were shocked. My wife and I asked question after question, and the neurologist patiently answered, although much of the next hour and a half remains a blur. I remember fragmented facts from the conversation: "80 percent die in two to five years," "No known cause or cure," "Don't lose any weight," and "Be careful what you read on the internet." We were devastated and emotionally wrung dry when we finally staggered out of the hospital.
The immediate aftermath — I was stunned. Three of my four grandparents had lived well past 90, my father had died at 94 the previous year, and my mother was very active at the age of 89. I had always assumed I would live at least as long.
My first thoughts were: It will really "suck" if I don't see my younger son graduate college (he was a freshman); it will really "suck" if I can't watch my grandchildren grow up; and it will really "suck" that I won't get to spend 30+ years enjoying the vacation cottage we had purchased only months earlier. More practically, I immediately realized that we would have to move because there was no way our home could reasonably be made accessible, and my wife and I would have to sell the software business we had spent 25 years building.
We drove around for 30 minutes trying to find a quiet place to sit and talk. We didn't know where to start; neither of us even had the energy to cry nor were we prepared yet to tell anyone.
A week later, I saw another neurologist for a second opinion. This time the question was, "Have you met with any other neurologist?" I replied that I had and named the neurologist. His body language immediately shifted. He realized he would not be the bearer of bad news, only the person to confirm it.
My PCP did a remarkable job guiding the diagnostic process and managing me as a patient. Yet, as I began to process the future impacts to both me and my immediate family, I realized that having a PCP who also knew my family well would be an important part of the journey. My father's PCP had guided several members of our family through my father's end-of-life care, and my wife already knew him well. Although his practice had been closed for years, I called him and asked if there was any way he could squeeze me into his practice. He replied without hesitation, "I’d be honored to have you in my practice." Those words were some of the kindest I heard in the first weeks after my diagnosis, and I remain grateful to this day.
Meeting with my new PCP a few weeks later, he asked if I had told anyone. I had not. Not my mother, my sister, or my sons. He advised I meet with a psychologist to discuss how I would disclose my diagnosis to family, friends, and colleagues. It was some of the best advice I received in the aftermath of my diagnosis. My only visible symptom was a slight limp, so there was no urgent need to share the diagnosis. The relatively fast diagnosis bought us the time we needed to consider next steps. I met with a psychologist a half-dozen times and, three months after I was diagnosed, I was able to have calm and meaningful one-on-one conversations with immediate family and a few close friends.
Thoughts on the diagnostic process — Only two years after I was diagnosed did I come to understand how fortunate I was with the diagnostic process. I was diagnosed in exactly two months; the average time to diagnose an ALS patient is 11 months. My initial PCP quickly focused on a neurological issue based on the description in my email. When the lumbar MRI was negative, he immediately arranged for an EMG. The speed with which he ordered the EMG saved months of diagnostic time. He was never alarmist about the process and did not offer speculative diagnoses. Although it was difficult to first hear the term “ALS” when being diagnosed, I am grateful I didn’t have to suffer with the knowledge that it was suspected throughout the two-month diagnostic process.
With incredible good fortune, both neurologists I saw were ALS specialists at ALS multidisciplinary centers. The first neurologist patiently gave us the time we needed that day, and he did not limit us to a 15-minute appointment when we clearly needed more. The appointment at the second hospital lasted four hours; we met with the neurologist, a physical therapist, and a research access nurse who talked with us about opportunities to participate in clinical trials.
Having these two appointments one week apart was a blessing. By the end of the first appointment, we were too drained to absorb any more information. By the next week, we had the mental and emotional space to speak with the additional members of the multidisciplinary care team and start to develop an action and care plan.
TREATMENT — Many ALS patients I know have been told at their diagnosis, "There's nothing we can do, so go home and put your affairs in order." This is so wrong! While there are no cures for ALS, and approved medications to slow progression have limited effectiveness, ALS patients can build and follow treatment plans that can provide a higher quality of life. And that starts simply with focusing on "life" rather than "ALS."
Multidisciplinary care — I receive my care at an ALS multidisciplinary clinic where I have access to more than a dozen specialized clinicians, and I work regularly with a subgroup of appropriate specialists who guide my care and regularly reevaluate my needs.
I see my neurologist and any appropriate specialists typically every three months, adjusted as-needed based on interim physical changes. I have also been able to remain in communication with my care team by email. During the COVID-19 pandemic, I have scheduled telehealth visits with appropriate specialists outside of the regular three-month clinic visit schedule. (See 'The impact of COVID-19' below.)
The multidisciplinary clinic has additional specialists that I have not needed. For example, my speaking is unaffected, and so I have not worked with a speech language pathologist. I can still chew and swallow without problem, allowing me to maintain a stable weight. Should I have problems eating, or eventually need a feeding tube, there are gastroenterologist, dietitian, and nursing resources who can be called upon to help.
The ALS multidisciplinary clinic covers virtually all of my medical needs. However, ALS needs are far greater than medical. ALS patients need help with social services, specialized equipment, and other supports. Fortunately, in my area, there are two organizations that I can work with for help and advice on topics such as how to navigate medical insurance, how to navigate Social Security Disability Insurance, connecting with other ALS patients, and obtaining adaptive equipment. (See 'Adaptive equipment' below and 'Resources and advice' below.)
Medications — The neurologist who diagnosed me told me about two available treatments that have a modest impact slowing ALS progression. I started taking riluzole two months after diagnosis. I chose not to take edaravone because it was only available at that time as a multiday intravenous infusion that would not mesh with my still-active lifestyle, and it was not clear from the neurologist's description if it would bring significant additional benefit.
In addition to considering medications approved for use in ALS, I was interested in other available options. Understanding that many patients will try anything, my clinical team also guided me toward some other promising treatments that have been or are being evaluated in clinical trials. After reviewing potential options, I began taking three off-label medications: Theracurmin (turmeric), methylcobalamin, and a combination of tauroursodeoxycholic acid (an over-the-counter supplement) and sodium phenylbutyrate.
However, there are many other therapies for ALS that may be found on the internet or elsewhere of dubious benefit. My clinical team and some reliable online resources are available to help patients navigate this information and misinformation. (See 'Resources and advice' below.)
Clinical trials — One week after diagnosis, a research access nurse met with us to learn if I would be interested in clinical trials. I decided to enroll in a phase three trial for an intrathecal stem-cell treatment. I will freely admit that pursuing clinical trials was, initially, all about me. I saw them as the best way to try to extend my life. However, during a routine 45-minute mid-trial checkup during the eleven month trial, my research neurologist sensed I was having a bad day. She put aside the paperwork and spent 25 minutes listening. As I walked out of the hospital, I realized I had just received a therapy session from an empathetic physician. I was blown away. How did she have time in her busy day to simply listen? That was the day I realized I was working with truly exceptional people who cared deeply about patients with ALS. By the time the clinical trial ended, my perspective had completely shifted. I realized that participating in the science of ALS was personally gratifying, and I came to view it as my responsibility as a patient to stay involved with research as well as a privilege to work with such an empathetic and supportive team. Subsequently, I have volunteered for a half-dozen observational and biological sample studies, including two voluntary spinal taps, simply to stay involved.
By June 2020, I no longer qualified for any clinical trials. However, I was offered a spot in an Expanded Access Program (EAP) to continue to receive an experimental infusion every two weeks. In June 2022, I am continuing with my third year in this EAP.
Finding answers for ALS requires many people, including willing patients who will take the time to be involved. If my participation in research can help researchers to find answers, even one day sooner, so that one patient and that patient's family do not have to endure what my family and I are going through, it is worth every hour that I spend with my research team.
Physical and occupational therapies — Physical and occupational therapies are great examples of how my care team has worked to regularly reevaluate and update my treatment plan as my ALS has progressed. Immediately after diagnosis, I was prescribed regular physical therapy appointments to help maintain strength and flexibility. I worked with the physical therapist every three weeks and built a 45-minute stretching routine that I did every single morning for 14 months until I could no longer get up off the floor by myself. I then switched to swimming and stretching in a pool five days each week. When my mobility worsened and I began struggling to safely get in and out of the pool and shower afterwards, I asked my physical therapist to make a video showing how a caregiver could stretch me at home. I have continued to have a caregiver stretch me five days per week. In addition, I have started doing therapy in a heated pool at a specialized rehabilitation center. The water temperature is set at 92°F so I don’t feel too cold, despite my body having trouble with temperature regulation. I wear a life jacket and a physical therapist is right next to me in the water to help me. Being in the water is a tremendous relief; for 45 minutes during each visit, my muscles do not fight gravity.
I have also worked with an occupational therapist to find strategies to support my gradually weakening left hand and wrist. One remarkably effective accommodation was a special swiveling wrist support for my desk that allowed me to keep typing for an additional two years. As my symptoms have progressed, an occupational therapist works with me every one to two weeks. She stretches my right hand to help maintain critical functionality that allows me to use a computer mouse and a fork to eat. My circulation in my feet and hands has deteriorated over the past two years and she also does lymphatic drainage to alleviate temporary chronic swelling. In addition, an occupational therapist came to our home to evaluate my bedroom, bathroom, and home office environments. She suggested a number of improvements to maintain function and independence.
Respiratory therapy — I have met with a respiratory therapist as-needed as my respiratory capacity has declined. I began using an active breathing device to help me maintain lung and diaphragm strength. Later, I added a "cough assist" machine to my daily routine.
I began using a positive pressure therapy using a bilevel positive pressure (BiPAP) machine because of some challenges with nighttime breathing. Using the BiPAP allows me to sleep longer and more comfortably. Initial attempts with a full facemask resulted very quickly in a sore spot on the bridge of my nose, so I switched to a nasal pillow. Fortunately, I do not seem to breathe through my mouth at night and so the nasal pillow has had the same beneficial effects.
Counseling — Within the multidisciplinary clinic, I have worked with a family psychologist who specializes in parenting issues during challenging times and also started regular consultations with a palliative care neurologist who helps with management of physical and emotional symptoms.
Outside of the ALS clinic, I met with a psychologist a half-dozen times shortly after diagnosis specifically to discuss how I would disclose my diagnosis to immediate family. I restarted counseling with a different psychologist (the first one did not have an accessible office) two years after diagnosis, and I continue to meet with her regularly.
Genetic testing — Approximately 10 percent of ALS cases have a genetic component. When I was diagnosed, I chose not to do genetic testing because we had no family history of ALS, and I did not want to live in fear that if I carried an ALS-connected gene, my son could be impacted. However, two years after diagnosis, I was offered genetic testing as part of a clinical trial. Some experimental treatments are available within clinical trials to patients with specific genetic markers associated with ALS. I was tested for approximately 30 ALS-related genes, and the results were negative.
If there is any family history of ALS, I would certainly advise genetic testing. If there is no family history, the issue of genetic testing is one that should still be discussed with the patient. If cost is a consideration, there are options with a confirmed ALS diagnosis to receive free genetic testing as part of contributing to research databases. (See 'Resources and advice' below.)
ADAPTIVE EQUIPMENT — Many adaptive technologies and options for medical equipment are available to support my evolving needs as my ALS has progressed. My clinical team, including physical, occupational, and respiratory therapists have provided guidance. In addition, online resources have also been helpful. (See 'Physical and occupational therapies' above and 'Respiratory therapy' above and 'Resources and advice' below.)
Equipment training — Always get equipment and learn how to use it before you need it. My transition from a rollator to the sit-to-stand lift occurred in only three days. If I did not already have the equipment available, the result could have been a dangerous fall.
Each new device comes with a learning curve. In some cases, I adapted easily, such as using the motorized wheelchair. However other equipment presented greater challenges. During the first week with the sit-to-stand lift, we had some frightening experiences, especially as my wife and a licensed home healthcare nursing assistant learned how to operate it. It would have been better to get some in-home training rather than fumble through it. A more recent example has been learning how to use an external condom catheter without injury. Nobody let us know that we needed to remove all pubic hair before using the condom. Additionally, nobody informed us about the need to use wipes to prepare the application site and more wipes for the next morning to help dissolve the adhesive. Only with persistent questioning of nurses and pharmacists did my wife learn about these tactics at the end of the first week, just as I was beginning to experience skin breakdown from lack of training. After several weeks, we switched to adhesive-free condom catheters and I have been much happier. (See 'Self-advocacy' below.)
Ambulation — At diagnosis, I had an almost unnoticeable limp. Nine months later, the multidisciplinary clinic physical therapist recommended an ankle-foot orthosis (AFO) to help maintain balance and conserve energy while I walked. Two years after diagnosis, I supplemented the AFO with a cane.
Around the time I started using a cane, I was advised to get fitted for a motorized wheelchair. It was a good thing I started early: the process of evaluation, fitting, insurance approvals, ordering, and delivery can take four to six months. I started using it less than two months after it arrived. Waiting too long to start the process could have resulted in a devastating fall.
Home environment — We moved from an inaccessible house to an accessible condominium two years after I was diagnosed. Even though it was designed for accessibility, we still had to partially rebuild my bathroom to make it fully accessible. The critical change was removing the shower stall and re-tiling the bathroom so that I can use a shower wheelchair and simply roll in and out of the shower corner. Additionally, we replaced the vanity with an Americans with Disabilities Act (ADA)-labeled sink and added a motorized lift seat to the toilet. The lift seat has a built-in bidet; the bidet has been a wonderful addition for comfort and cleanliness.
I have progressed over three years from using a bed cane to help get in and out of bed, to using a wedge pillow to make it easier to sit up, to using a fully electric hospital bed. The electric bed helps avoid caregiver injury when lifting me into a sitting position. I have also switched from a regular mattress to a low air loss mattress because I no longer move in bed; I lie flat on my back all night. Transfers between wheelchair, bed, and toilet are accomplished with a sit-to-stand lift.
When I could no longer get out of bed by myself, I used a bedside urinal in the middle of the night. This simple device helped me maintain overnight independence to urinate while lying on my back and allowed my wife to sleep without interruption (as my primary caregiver, her sleep is vital to both her and my health). In the last month, I have switched to using an external condom catheter overnight because I no longer have the arm strength to manipulate the urinal.
Driving — For the first two years after diagnosis, I was able to drive without problem. I did obtain a handicap placard for my car, although it was almost one more year before I first felt the need to use it.
After two years (about the same time I started the fitting process for a wheelchair), I realized that it was getting harder to drive with a weakened left arm. I was referred to an occupational therapist certified as a driver rehabilitation specialist who advised some simple modifications to my car. The process to be evaluated for and install these modifications took three months and cost over $1500. By the time modifications were installed, I knew I was driving on borrowed time. I repeatedly wondered if I would have the humility to take myself off the road before getting into an accident.
In March of 2020, I received word that my office was closing for COVID-19, and with the general lockdown, I had no reason to drive anywhere for two months. When I finally got into a car as a passenger in mid-May 2020, I immediately realized that I could no longer drive safely. I called my insurance agent the next day and asked to be removed from our insurance policy.
Realizing my growing dependence on the wheelchair, and not wanting to be dependent on public transportation, my wife and I have since purchased a used van that had been modified with a ramp for loading a wheelchair.
Augmentative communication — I was referred to an augmentative communication specialist for "voice banking," a process by which my voice could be digitized so that, if I lost the ability to speak, I could enter text on a computer and then it could be read in my own voice. I made the appropriate recordings. Mercifully, five years after diagnosis, I have not yet needed my "digital voice," but there is tremendous comfort in knowing that I have this if I need it.
At the same visit, we discussed my increasing challenges typing, and a second specialist was brought in to explain how we could use commercial software for voice dictation. Over the next two years, as my hands became weaker, I gradually reduced my typing and increased my dictation. Today I am entirely dependent on voice dictation. This entire perspective was "typed" with it.
Other simple yet vital suggestions from my augmentative communication specialist included how to use accessibility controls on my smart phone and tablet. The ability to use voice control for nearly all actions on both devices is a game changer! I can now lie in bed with my tablet held by a special stand in front of me and easily read and send texts or watch a movie without the need to move my hands.
COMMUNICATION
Clinical and social services — Ongoing communication with my clinical team and local ALS social service organizations has been vital for all parts of my care. In the early days when I showed few symptoms, I did not communicate frequently with my clinical team outside of my quarterly clinic visits. As my physical condition has declined, it's a rare week that I do not exchange emails with or talk to at least one of my clinical providers.
Similarly, I maintain regular communication with the ALS social service organizations that I work with. All of these professionals would much rather that I contact them regularly with questions or to discuss changes in my condition than to risk an adverse event that could cause a much more serious situation.
Family and friends — It's vital for any ALS patient and their primary caregiver(s) to maintain a strong network of family and friends who can be called upon for everything from emotional support to help simply navigating daily life. My wife, who is also my primary caregiver, is enormously grateful anytime a friend calls and offers to drop off dinner.
One of my strongest sources of support is a group of friends with whom I used to ride bicycles on weekends and enjoy a casual mid-ride brunch. Once I was no longer able to ride a bike, my friends would meet me at local diners to still enjoy the breakfast; they rode and I drove. More recently, our religious community has formed a "caring circle." My wife and I update a shared online document weekly with our needs (eg, deliver dinner on Tuesday night, drive me to a medical appointment on Thursday afternoon), and volunteers sign up to help us and give my wife a much-needed break.
Self-advocacy — It's incredibly important for patients and their caregivers to advocate strongly for themselves. ALS is complicated, and no single person knows every solution to the problems and challenges that ALS patients face, so sometimes asking the same question of multiple people can result in a combined answer that works.
It's also vitally important for caregivers to advocate for themselves. I have learned to discuss scheduling visits of friends and family with my wife so that those visits are helpful for her and can give her a break if she needs it rather than an event where she feels she needs to entertain or feed people when she is already exhausted.
IMPACT
Positive changes — Some may ask how one can look at an ALS diagnosis and see anything that could be called a "positive change." In my case, continually looking for positives is a large part of what has kept me going for the last five years. Some examples include:
●Before diagnosis I was very much a "type A," control-oriented person. As I have lost more and more function over the past five years, I have learned to accept that I must let go of things that I cannot control, to have patience when I must wait for others to help me, and to enjoy things that I still can do while gracefully accepting the increasing number of things that I cannot do.
●Some very special friendships have become much deeper and more intense. I have seen a level of care and love that I have never before experienced.
●I have been active in ALS research; I have a stack of signed consent forms more than two inches thick. Through my involvement in clinical trials, Expanded Access Programs, and observational research studies, I have met some truly amazing and dedicated researchers. For the last two years, I have looked forward to spending a half-day at the hospital every two weeks getting an infusion of an experimental medication simply for the opportunity to spend time learning from people who are incredibly caring and empathetic.
●I have become active in ALS advocacy, doing everything from speaking about living with ALS to fundraising to mentoring of other ALS patients (and some of those patients also mentor me).
Most importantly, I have tried to focus on "living" rather than "battling ALS" or "struggling." I meet occasionally with my Rabbi, and I regularly remind him that when he writes my eulogy, I want him to say that I "lived with ALS."
Negative changes — While I try to stay as positive as possible, ALS mostly comes with negative changes, and I could probably write an entire dissertation on the challenges of living with ALS.
Some of the larger impact changes include:
●Constantly adapting to physical changes of ALS progression is a continual emotional drain. One ALS patient referred to this as "death by a thousand paper cuts." Just when you have mastered one change, another change comes up to throw you off balance.
●Going anywhere outside of my home has become more and more challenging as my physical mobility has declined. I constantly think ahead about the next three to six hours to determine my schedule for eating, bathroom breaks, and caregiving needs. Aside from needing wheelchair accessibility, arrangements for toileting require something more complex than a handicap stall in a public bathroom. As a result, I plan hydration and bathroom breaks as part of any outing very carefully, and I simply decline to participate in some events if I don't think I can do so comfortably. I have come to manage my life around minimizing discomfort. It's very different from my previous lifestyle of simply enjoying life as it came and looking for serendipitous opportunities.
●The emotional and physical toll on family caregivers, especially spouses, is immense. Caregiving by my wife is now a 24/7 job from which there is little respite, especially during COVID-19 when it is much more challenging to safely have friends, family, or professionals help.
Alas, caregivers do not receive the care and attention that they need and deserve. Most people will focus their attention on the patient. On the occasions when somebody simply asks my wife how she is doing, it means a lot to her and goes a long way towards acknowledging the incredibly difficult role that she has.
Work — I realized within 15 minutes of receiving my diagnosis that my wife and I would have to sell the small software company we owned. To protect the future of the company, I chose not to disclose my diagnosis to our employees, customers, and larger professional community until after the sale was complete, a process that took two years. Those two years were enormously stressful (I woke up nauseous many mornings) because I went to work every day hiding my diagnosis and the future of our company from my colleagues.
Many ALS patients will choose, or find it necessary, to stop working soon after they are diagnosed. Following the sale of my company, I was able to continue working. However, as my physical strength has declined, I made modifications to my work routine. I gave up business travel one year after diagnosis. Later, I moved from typing to voice dictation. Four years after diagnosis, I was able to continue to work but with reduced hours, based on my increasing disability. This change was supported as a "reasonable accommodation" based on requirements set forth by the Americans with Disabilities Act.
The single most important fact to share with ALS patients and their families if they plan to stop work immediately after diagnosis is that ALS patients have a special exception for Social Security Disability Insurance (SSDI). ALS patients are immediately eligible for SSDI; they do not have to endure the standard five-month waiting period.
The impact of COVID-19 — On the negative side, with a weaker respiratory system, I had to be especially careful about isolating, and so I was socially much more isolated from family and friends than before COVID-19. As we started to engage professional caregivers during COVID-19, we initially had to look for people who would work exclusively with us to minimize risk of infection.
As of June 2022, I am still cautious about COVID-19 contact, and there are times that I still feel quite lonely, or my wife and I accept more limited help because we are trying to minimize our risk.
The COVID-19 pandemic has had negative impacts on patients with ALS, but there were also some unexpected benefits. I have been able to continue to work much longer than I originally expected because I was able to shift to working virtually. Because all meetings became virtual, I could participate on the same level playing field as my colleagues who do not have disabilities.
During the first summer of COVID-19, all my ALS clinic appointments became virtual. Relaxed Medicare rules allowed me to conduct virtual visits with all necessary members of my care team, so I was able to spend most of the summer at our vacation home. In my case, my care team knew my situation well enough that the lack of in-person contact did not adversely affect my care. In fact, the shift to virtual visits during COVID-19 turned out to be a huge benefit as I lost strength and mobility. Of course, virtual visits can never be a complete substitute for in-person visits, especially early or late in the disease progression, but they greatly facilitate care for ALS patients (and other patients with significant mobility challenges).
In addition to virtual visits, many ALS organizations moved their meetings online during COVID-19. This has created a wealth of new resources, especially for those patients in remote locations. I can frequently choose to attend as many as four or five online meetings per week between online support groups, ALS advocacy meetings, meetings to discuss progress in ALS research, and other selected topics.
RESOURCES AND ADVICE — ALS is a disease with a heterogeneous presentation and variable course. The needs of each patient will be unique based on the disease presentation. My perspective is based on my personal ALS journey, but I hope it provides insight helpful for clinicians working with any ALS patient.
Additionally, as my ALS symptoms have progressed, my perspective has constantly changed based on how I interact with the environment around me. Had I written this a year earlier, I would have emphasized other points and missed some key lessons I have learned over the past 12 months of loss of function. Similarly, I would expect to have some different perspectives one year from now.
At the appointment where I was diagnosed, the neurologist stated at least three or four times "be careful what you read on the internet; there's a lot of garbage about ALS." I found that he was correct. I've been shocked at how much "garbage" there is. There are many advertisements and testimonials for unproven supplements and other treatments that you might expect to find preying on desperate patients and their families.
In addition to my expert advice from my clinical team, I have found several reliable and helpful resources available to ALS patients.
●The ALS Association was recommended by the neurologist who diagnosed me as a source for reliable information. During the first few weeks of learning more about ALS and the impact it would have on my life, I found information at this website especially helpful.
The ALS Association and other regional ALS patient and caregiver support organizations also provide a variety of support services across the United States ranging from support groups to equipment loans. Through these support organizations, I have been provided loans of equipment such as a shower wheelchair and a Hoyer lift, and my wife has joined several support groups where she has received support and also provides mentoring to families of newly diagnosed patients.
●Your ALS Guide is a practical website with videos and written information on a wide variety of topics that someone with ALS may face, and they are constantly adding to their library.
●I Am ALS is focused on building a patient community, and they have many resources on their website. This includes resources to connect ALS patients and caregivers with other patients and caregivers and a clinical trial navigator.
●EverythingALS is also focused on building a patient and caregiver community and on making ALS research more accessible to patients. They host webinars two times per month with experts in ALS to present on various topics including current research, clinical trials, and navigating technology options for ALS patients. After the presentation, they have an open social session were ALS patients and their caregivers can connect.
●ALS Untangled reviews alternative and off-label treatments for ALS and includes discussion of risks and benefits.
●Technology support is available to provide services that connect patients with ALS to appropriate technologies including Team Gleason and the Jay S. Fishman ALS Augmentative Communication Program at Boston Children's Hospital.
●Clinical trial information is available at ClinicalTrials.gov as well as other sites geared toward patients and clinicians alike, such as the Northeast ALS (NEALS) website. In addition, the Healey Center Platform Trial is a multicenter collaborative research effort that can connect patients with active trials for ALS.
