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Having possible symptoms of <a href="https://alsnewstoday.com/what-is-als/">amyotrophic lateral sclerosis</a> (ALS) increases the chances of getting an ALS diagnosis by nearly five times, but getting diagnosed is more likely for people in urban areas, who have greater access to specialized care, a U.S. study shows.
People in rural areas are diagnosed at a later age and their diagnosis is more dependent on major ALS-specific <a href="https://alsnewstoday.com/symptoms-of-als/">symptoms</a>, such as muscle weakness and difficulty swallowing or speaking.
The findings underscore the “need to accelerate the detection-to-diagnosis timeline of ALS,” particularly for underserved populations in rural areas, the researchers wrote in “<a href="https://www.tandfonline.com/doi/full/10.1080/21678421.2024.2315185">Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis</a>,” which was published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
ALS is <a href="https://alsnewstoday.com/causes-of-als/">caused</a> by progressive damage to motor neurons, which are specialized nerve cells responsible for voluntary muscle movements. Evidence suggests early symptoms may appear about a year before the disease is formally diagnosed. These symptoms are often ambiguous, however, and can be missed in many patients, especially where access to specialists is limited, such as rural areas.
Here, researchers in the U.S. studied the association between possible ALS symptoms and a later diagnosis, and whether that association changed in urban or rural areas.
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<h3>Chances of an ALS diagnosis</h3>
The scientists used national insurance claims-based data from 2001 to 2021. The study included 19,226 people newly diagnosed with ALS and a control group of 96,126 people without ALS, who were matched to patients in age, sex, and enrollment period.
The researchers considered eight groups of symptoms as possible signs of ALS: speech problems, swallowing problems, muscle strength, gait problems, involuntary muscle movements, pain, falls, and other symptoms. The symptoms were assessed up to a year before the diagnosis.
A greater proportion of those who were later diagnosed with ALS had at least one possible symptom than those who weren&#8217;t diagnosed with the disease (83.7% vs. 50.7%). There were also more patients than controls with four or more symptoms before a diagnosis (25.5% vs. 4.7%).
Having at least one possible ALS symptom increased the chance of a diagnosis by 4.92 compared with not having a symptom, statistical analyses indicated. Also, as the number of symptoms increased, the likelihood of a diagnosis increased — being 33.2 times more likely in people with five symptoms.
The participants who lived at any time in an urban area were 44% more likely to be diagnosed with ALS than those in rural areas.
Both having possible ALS symptoms and living in an urban area increased the chances of an ALS diagnosis. The difference between urban and rural areas was smaller among those who showed symptoms, however. This means “having a possible ALS symptom reduces the urban bias of ALS,” said the researchers, who then showed the association between possible ALS symptoms and a diagnosis was evident at least a year before a diagnosis, suggesting &#8220;ALS symptoms may start appearing and being noted clinically at least [one] year before the diagnosis of ALS is made.&#8221;
Next, as differences in ALS incidence in urban and rural areas hadn&#8217;t been reported, the researchers hypothesized that the differences in diagnosis resulted from greater access to care in urban areas. This would probably result in being diagnosed at an earlier age in these regions, which analyses confirmed.
“If the age-dependent incidence of ALS is similar between urban and rural places, this finding would suggest people with ALS are being diagnosed earlier in their disease course and with presumably lower symptom burden when they live in urban areas,” wrote the researchers, who noted that “rural populations, which are disproportionately elderly and face limited access to specialist care, are more dependent on major symptoms to arrive at a diagnosis.&#8221;

Rural living may widen gap between early ALS symptoms, diagnosis

<a href="https://alsnewstoday.com/what-is-als/">ALS</a> was <a href="https://www.als.org/understanding-als">first identified</a> in 1869, though its <a href="https://alsnewstoday.com/symptoms-of-als/">symptoms</a> were <a href="https://www.pharmaceutical-technology.com/features/history-of-als/?cf-view">documented</a> in medical literature as early as 1824. It&#8217;s intriguing that the sequence of the disease today is often similar, with initial symptoms followed by an actual diagnosis.
It took four years to receive my <a href="https://alsnewstoday.com/als-diagnosis/">diagnosis of ALS</a>, during which time I went through <a href="https://alsnewstoday.com/columns/physical-occupational-therapy-improve-quality-life-als/">physical therapy</a>, chiropractic manipulation, myriad tests for <a href="https://parkinsonsnewstoday.com/what-is-parkinsons-disease/">Parkinson&#8217;s</a> and other illnesses, and back surgery. The <a href="https://alsnewstoday.com/living-with-als-2/">reality of ALS</a> is fraught with issues that relate to its onset typically occurring months or years before a diagnosis. In other words, there&#8217;s <a href="https://www.als.org/understanding-als/symptoms-diagnosis">no definitive way</a> to &#8220;catch it early.&#8221;
Some conditions, such as certain types of cancer, can be headed off if caught early. But many rare, degenerative diseases cannot be detected early, and even if they could, the prognosis is always the same. No remission and no dormancy. So what can we do?
[recommended-reading id=90697]
<h3>Bringing ALS to the forefront</h3>
I understand the economics of medical research and drug development aren&#8217;t conducive to dedicating much time to finding a cure for ALS. But I also understand and believe in the squeaky-wheel concept. Thus, we have to squeak much louder.
There&#8217;s a relatively small cadre of dedicated persons, medical, legal, and political, who work tirelessly to find and advocate for solutions to ease the burdens borne by ALS victims and their families. But they need help.
The way things are in our slow-paced world of drug approvals and research initiatives, those who contract ALS today have little hope they&#8217;ll see a cure or a cessation of symptoms.
As I&#8217;ve said before, <a href="https://alsnewstoday.com/columns/living-my-life-key-d-minor/">miracles do exist</a>. But I also believe we need more miracle makers and miracle assistants. One such person is Michelle Lorenz, whom I met online a few years ago and worked with to get senators to support the fast-tracking of an <a href="https://www.congress.gov/bill/117th-congress/house-bill/3537">initiative</a> to help suppress ALS.
Michelle is indefatigable and relentless when it comes to lobbying for the rights and <a href="https://alsnewstoday.com/approved-treatments-for-als/">treatment</a> of ALS patients. Check her out on <a href="https://www.facebook.com/michelle.lorenz.395">Facebook</a>.
It&#8217;s unimaginable that diagnosis — and thus, treatment — for one of the worst diseases known to man can take four years, as it did for me. This is not 1824 or 1869. Surely we can do better.
One of the most disquieting things for me is hearing about a younger person or a friend being diagnosed with ALS. It truly makes me sad, and recently I received news of both. I wish I had that proverbial magic wand to make it all go away or make it better.
It&#8217;s also very disheartening to hear about <a href="https://alsnewstoday.com/forms-of-als-familial-als/">familial ALS</a> cases. <a href="https://alsnewstoday.com/columns/how-familial-als-shaped-friends-journey/">I wrote about one family in a previous column</a>, and a reader shared that her family has also lost several members to ALS.
On a positive note, I just received some news of progress on the familial type. Last month, the <a href="https://www.msn.com/en-us/health/other/accumulation-of-junk-proteins-identified-as-one-cause-of-aging-and-possible-source-of-als/ar-BB1kmg6q">Spanish National Cancer Research Center</a> noted that a paper published in Molecular Cell &#8220;provides the first evidence that a possible cause of the hereditary type of ALS — familial ALS — is the accumulation in motor neurons of &#8216;junk proteins,&#8217; proteins with no function that wrongly accumulate and prevent the cell from functioning properly.&#8221; According to researchers, this finding could help them explore new treatment pathways.
We who have suffered for years — and know how hard ALS is — are deeply hurt by new cases, especially when a young person gets our disease. And knowing that anyone can get it, we encourage all who can to do all they can to put an end to this heinous condition.
Simply because a disease is rare doesn&#8217;t justify putting it on the back burner. We must give more of our time, talent, and treasure to the diagnosis, treatment, and cure for ALS. We owe it to our society.
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Note: <a href="https://alsnewstoday.com/">ALS News Today</a> is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of ALS News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to ALS.

We must do more to accelerate the diagnosis and treatment of ALS

Anxiety is common among people newly diagnosed with <a href="https://alsnewstoday.com/what-is-als/">amyotrophic lateral sclerosis</a> (ALS) and their family members, a small study from Sweden reports.
However, symptoms of anxiety tended to ease about six or so months later for patients, while they continued to affect relatives, many who are caregivers, two years after the diagnosis. Depression was less common, but its symptoms held stable for affected patients and relatives, underscoring the importance of ongoing support and attention to mental health.
“A better understanding of and knowledge on the prevalence of anxiety and depression from the time of diagnosis and over time &#8230; will probably contribute to better and more efficient care during the disease trajectory,” the researchers wrote.
The study, “<a href="https://www.sciencedirect.com/science/article/pii/S0022510X23022414">Symptoms of anxiety and depression in patients with amyotrophic lateral sclerosis and their relatives during the disease trajectory</a>,” was published in the <a href="https://www.sciencedirect.com/journal/journal-of-the-neurological-sciences">Journal of the Neurological Sciences</a>.
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<h3>Anxiety evident in 43% of ALS patients, 58% of relatives soon after diagnosis</h3>
<a href="https://alsnewstoday.com/causes-of-als/">ALS damages nerve cells</a> in the brain and spinal cord, making it difficult to control muscle movement. As the disease progresses, a patient’s ability to perform basic tasks, such as walking up steps, getting in and out of bed, or speaking audibly, become more and more impaired.
Being <a href="https://alsnewstoday.com/als-diagnosis/">diagnosed with ALS</a> and watching how it affects daily life can be taxing. Because patients usually retain their cognitive skills, they are aware of their progressive physical loss, and the <a href="https://alsnewstoday.com/als-mental-health/">distress and mental health challenges</a> that brings both them and their relatives.
To learn more, researchers with Uppsala University followed 33 newly diagnosed patients — 28 with limb-onset and 5 with bulbar-onset disease — and 33 of their chosen family members for two years. Among relatives, 25 were a patient&#8217;s spouse, six were a patient&#8217;s children, one was a parent, and one a sibling.
Participants were asked to fill out the self-reported Hospital Anxiety and Depression Scale (HADS) shortly after the diagnosis and again at six, 12, 18, and 24 months later. This two-part test assesses the presence and severity of anxiety and depression in the past week, and total scores for each part range from zero (no distress) to 21 (maximum distress).
Assessments taken between one and three months after a diagnosis showed symptoms of anxiety in almost half of patients (45%) and a majority of their relatives (58%), indicating that anxiety at this stage “is relatively common,” the researchers wrote.
Patients&#8217; average level of anxiety severity decreased significantly, starting around six months after diagnosis. But scores remained stable at high levels among family members, suggesting that “the disease affected the relatives’ psychological well-being more,” they wrote.
Depression was less common than anxiety in these groups, affecting 13% of patients and 29% of relatives in the initial months. In both groups, the average score of its severity was similar (4.6 vs. 5.2 points) and did not change significantly over time.
“Relatives are often involved in the patient’s care, taking great responsibility for them and dedicating many hours to help,” the researchers wrote. However, “few relatives received antidepressant and/or anxiolytic [anti-anxiety] treatment.”
<h3>Disease&#8217;s progressive toll not tied to an increase in anxiety or depression</h3>
Physical function was assessed using the revised ALS Functional and Rating Scale (ALSFRS-R). While scores significantly decreased over the two years of follow-up, patients&#8217; increasing physical difficulties did not link with more symptoms of anxiety or depression.
“It could … be that during the disease trajectory, the patient adapts to the disease and the changes that result [from it], which may explain the decrease in symptoms of anxiety despite the increased physical impairment,” the researchers wrote.
While the number of people involved was small, study “results showed that many patients and relatives suffered from symptoms of anxiety quite soon after the diagnosis, and that many relatives had symptoms of anxiety during the disease trajectory,” the researchers concluded.
“This highlights the need to continuously measure symptoms of anxiety/depression in patients but also to pay attention to symptoms among relatives,” they added.

Anxiety high in ALS patients, family members in months after diagnosis

A test that assesses the electrical activity associated with blinking may help speed the <a href="https://alsnewstoday.com/als-diagnosis/">diagnosis</a> of <a href="https://alsnewstoday.com/what-is-als/">amyotrophic lateral sclerosis</a> (ALS) and monitor disease progression in people with the condition, a study found.
Findings showed that certain electrical waves can significantly distinguish people with ALS from healthy controls or people with diseases affecting the nerves outside the brain and spinal cord.
Also, among those with the disease, the timing of these waves was associated significantly with their disability status and <a href="https://alsnewstoday.com/forms-of-als/#Clinical_onset">ALS clinical subtype</a>, which can meaningfully affect prognosis.
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“[Blink reflex] might help with earlier interventions in order to maintain a better functional status in ALS patients,” the researchers wrote in the study, “<a href="https://www.mdpi.com/2076-3425/13/10/1384">Blink Reflex Examination in Patients with Amyotrophic Lateral Sclerosis Compared to Diseases Affecting the Peripheral Nervous System and Healthy Controls</a>,” published in the journal <a href="https://www.mdpi.com/journal/brainsci">Brain Sciences</a>.
<a href="https://alsnewstoday.com/causes-of-als/">ALS is caused</a> by the progressive dysfunction of motor neurons, the nerve cells that control voluntary movements. This renders the brain unable to control muscles, and patients progressively lose their ability to perform everyday tasks.
Diagnosing the disease in its early stages is critical to ensure patients receive timely treatments before significant disability sets in. <a href="https://alsnewstoday.com/als-treatment/">Current ALS therapies</a> can slow the progression of the disease, but they cannot reverse damage that has already occurred.
But because <a href="https://alsnewstoday.com/als-symptoms/">ALS symptoms</a> can overlap with a number of other neurological conditions, it often takes <a href="https://www.sciencedirect.com/science/article/pii/S0022510X20303919">several months</a> before patients receive a formal diagnosis and begin appropriate treatments.
<h3>How the blink reflex test works</h3>
The blink reflex test is a simple, noninvasive, and inexpensive test that can detect alterations in the brainstem, an area at the base of the brain that connects to the spinal cord. The test measures the electrical activity of facial nerves involved in blinking after being stimulated, but it&#8217;s unknown if it could serve as an easy-to-use diagnostic tool in ALS.
To find out, researchers in Hungary examined blink reflex parameters in 29 people with ALS, 50 healthy controls, and 61 people with other diseases affecting the peripheral nervous system — the nerves that branch out from the brain and spinal cord and into all body parts.
The test is based on an electric stimulus applied to the supraorbital nerve (a facial nerve located above the eye) and responses are obtained from electrodes placed over the muscle that closes the eyelid, namely in the lower lid.
Generally, patients experience an initial, rapid blink reflex on the side where the stimulus was applied, whose corresponding electrical signal is called R1. This is followed by a more sustained and prolonged closure of both eyelids, measured as R2 waves. There are two R2 waves: one on the stimulated side, called the ipsilateral R2 or R2i, and one on the opposite side, called contralateral R2 or R2c.
<h3>Different latencies for different waves</h3>
Results showed that the timing of the R1 wave, called latency, was similar for ALS patients and healthy controls, but patients had longer latencies of both R2i and R2c, indicating they took longer to close both eyelids after the stimulus.
There were six patients for whom no R2c wave was recorded, suggesting the  blinking response did not occur. This supports the loss of neuronal connectivity in ALS, according to the researchers.
The latencies of these R-waves also were different between ALS patients and people with diseases of the peripheral nervous system. A particular difference was the normal R1 wave in ALS patients, which was altered in at least one eye in people with all other examined conditions.
“The pathological latencies were increased and showed a pattern that could be well distinguished from the &#8216;ALS pattern,&#8217;” the researchers wrote.
Results also showed notable differences in R-wave latencies in ALS patients whose symptoms first began the muscles around the face and throat — called <a href="https://alsnewstoday.com/symptoms-of-als/">bulbar-onset disease</a> — from those with spinal-onset ALS, where symptoms of muscle weakness are first evident in the arms and legs.
More precisely, the latencies of R1, R2i, and R2c were all higher in people with bulbar-onset ALS, which typically have a faster disease progression and worse prognosis, than in those with spinal-onset.
Consistently, higher latencies in all three waves were associated with a more severe functional disability, as measured by the ALS Functional Rating Scale—Revised (ALSFRS-R), regardless of clinical onset.
<h3>Promising tool to diagnose, monitor disease progression</h3>
The findings point to the blink reflex as a promising tool to diagnose and monitor disease progression in people with ALS, according to the researchers.
“[Blink reflex] examination might be a promising tool to monitor the course of the disease and to serve as a biomarker in patients with ALS, due to its correlation with ALSFRS-R score,” the researchers wrote.
However, its use as a prognosis ALS biomarker should be assessed in more studies, including in larger samples of ALS patients who would be followed for longer periods.

Blink reflex test may be biomarker to diagnose, monitor ALS: Study

A new Canadian initiative seeks to advance development of an artificial intelligence (AI) program aimed at helping healthcare professionals detect possible signs of <a href="https://alsnewstoday.com/what-is-als/">amyotrophic lateral sclerosis</a> (ALS) in the disease&#8217;s early stages.
The AI program is crafted to analyze de-identified electronic medical records (EMRs) and detect individuals who should be tested for ALS or referred to a specialty center. It employs a <a href="https://www.alsprogress.ca/als-emr-program.php">clinical algorithm</a> — called MNd-5 and using real-world data — that screens EMRs to help physicians spot patients for whom investigations for the neurodegenerative disorder may be appropriate.
The initiative, <a href="https://www.alsprogress.ca">Process for Progress in ALS: An EMR-Based Practice Initiative</a>, is a collaboration of <a href="https://www.mt-pharma-ca.com/">Mitsubishi Tanabe Pharma Canada</a> (MTP-CA) and a trio of experts. These scientists, all members of the steering committee, are Angela Genge, MD, executive director of the ALS Centre of Excellence at The Neuro, in Montreal; Amer A. Ghavanini, PhD, division head of neurology at Trillium Health Partners in Mississauga, Canada; and Amanda Fiander, a neurologist at Maritime Neurology, in Nova Scotia.
&#8220;Early diagnosis and treatment of ALS can improve outcomes, but the disease can be difficult to diagnose in its early stages. The more time that passes before diagnosis, the less opportunities exist for disease-management for someone living with ALS,&#8221; Genge, said in a <a href="https://www.newswire.ca/news-releases/canadian-developed-ai-technology-aims-to-support-early-detection-of-als-830241196.html">MTP-CA press release</a>.
&#8220;Process for Progress in ALS is a unique advancement in AI medical technology which can help HCPs [healthcare providers] identify patients who present multiple warning signs for ALS so they can receive expedited follow-ups, diagnoses, and treatment if needed,&#8221; Genge added.
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<h3>Better tech needed to correctly ID early signs of ALS</h3>
While early <a href="https://alsnewstoday.com/als-diagnosis/">diagnosis</a> and <a href="https://alsnewstoday.com/als-treatment/">treatment</a> can improve outcomes, making such a determination in ALS often is challenging because the early signs and <a href="https://alsnewstoday.com/symptoms-of-als/">symptoms</a> of the progressive disease can be subtle, and no test provides a definitive diagnosis.
In Canada, such diagnoses take an average of 21 months, and come at a time when most patients are already showing more <a href="https://alsnewstoday.com/stages-of-als/">severe signs of muscle weakness</a> affecting multiple regions of the body.
The new algorithm, developed with the steering committee and deployed using the software platform of Toronto, Canada-based Ensho Health, a digital healthcare company, is intended for use as a clinical-decision support tool.
It prioritizes patients suspected of having ALS for clinical review. It works <a href="https://www.alsprogress.ca/als-algorithm.php">by comparing characteristics</a> of their health presentations, along with <a href="https://alsnewstoday.com/als-diagnosis/#Diagnostic_tests">electromyography test results</a>, with a reference population in which ALS or a number of other conditions has been diagnosed or ruled out.
[quote=&#8221;center&#8221;]We know that time is of the essence for people living with ALS, and initiatives like Process for Progress in ALS are critical in helping to ensure a timely diagnosis for people impacted by this devastating disease.[/quote]
&#8220;As a participant in the Process for Progress in ALS initiative, I believe it is a significant step forward to assist in our ability to identify ALS symptoms in the early stages and confidently refer people for further testing or to an ALS centre,&#8221; said Hamza Jalal, neurologist at Oakville Valley Health and a program participant.
&#8220;By intervening in patients&#8217; journeys earlier in the course of their disease, we can provide access to multidisciplinary care, approved therapies or clinical trials that can slow the progression of the disease and enhance the quality of their lives,&#8221; Jalal added.
Through integrations with electronic medical record systems, including Accuro, Cerner, Epic, Indivicare, Mediquest, and OscarPro, the screening service is available to about 80% of community neurologists, according to MTP-CA.
&#8220;We know that time is of the essence for people living with ALS, and initiatives like Process for Progress in ALS are critical in helping to ensure a timely diagnosis for people impacted by this devastating disease,&#8221; said Andy Zylak, president of MTP-CA, adding, &#8220;We are proud to support the introduction of this important AI technology as part of our long-standing commitment to leading scientific innovation, collaborating with HCPs, and working tirelessly to meet the needs of the ALS community.&#8221;

Canadian initiative to advance AI tech to better diagnose ALS

My late husband, Jeff, made a dream come true for me.
When I was a kid, my dad would take our family on our small powerboat to explore the waters near my hometown of <a href="https://www.visitannapolis.org/" rel="nofollow">Annapolis</a>, Maryland. If we had enough time and the weather cooperated, we’d take a slightly longer trip a few rivers south of our home. I enjoyed this trip best of all, simply because of one particular house we’d see each time.
Nestled on the shores of the river was a small, older farmhouse with a sloping backyard that abutted a pond. Beside it was a large red barn. I imagined how wonderful it must be to live there.
As I grew into adulthood, I’d continue to see this house on boating excursions with family and friends. I always maintained my affection for it; this home, which I knew nothing about other than its charm and peacefulness, came to represent both future dreams and a connection with my past.
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When Jeff, then my boyfriend, and I were relocating to <a href="https://www.visitmaryland.org/" rel="nofollow">Maryland</a> after several years away, he suggested that we settle near Annapolis. He loved boating and the water just as I did, and I was elated that he was willing to give my favorite town a try. Reasonably, he wanted to rent while we got reacquainted with the area, so I began a home search. The only catch: We had a difficult time finding a place willing to accept our 80-pound husky mix, Rudder.
As our move drew worryingly near, I found a potential rental. Online, the owner shared no pictures of the house, only the pretty waterfront view, and she was happy to accept Rudder. We set an appointment to visit, at which point I realized that, unbelievably, the house was the childhood home of my dreams. Jeff, Rudder, and I were delighted to move there just a few weeks later.
<figure id="attachment_86547" aria-describedby="caption-attachment-86547" style="width: 271px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" class="wp-image-86547 size-medium" src="https://alsnewstoday.com/wp-content/uploads/2023/08/farmhouse-271x380.jpg" alt="A couple poses for a photo on the porch of a farmhouse at sunset. The man is sitting in a chair, and the woman stands behind him, resting her arms on his shoulders. " width="271" height="380" data-wp-pid="86547" /><figcaption id="caption-attachment-86547" class="wp-caption-text">Jeff and Juliet pose for a photograph on the porch of their rented farmhouse, early in Jeff&#8217;s ALS diagnosis. (Courtesy of Juliet Taylor)</figcaption></figure>
That summer, I couldn’t imagine being happier. Jeff cared for the sprawling yard, Rudder napped on the small pier, and I decorated our place with family pictures. The three of us spent most evenings watching the sunset, hosting friends, and simply being present in each moment. We joined a boat club and set off on the Chesapeake Bay on the weekends. Things felt surreally content.
<figure id="attachment_86548" aria-describedby="caption-attachment-86548" style="width: 380px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" class="wp-image-86548 size-medium" src="https://alsnewstoday.com/wp-content/uploads/2023/08/Rudder-on-pier-380x285.jpg" alt="A husky mix stands on a wooden pier that extends out over a river. His mouth is open, as if he's in mid-bark. The pier is surrounded by lush greenery, as is the opposite bank." width="380" height="285" data-wp-pid="86548" /><figcaption id="caption-attachment-86548" class="wp-caption-text">Rudder enjoys his pier at home in Annapolis, Maryland. (Photo by Juliet Taylor)</figcaption></figure>
<h3>Life takes an unexpected turn</h3>
As summer turned to fall, our days were increasingly defined by Jeff’s concerning, seemingly unrelated <a href="https://alsnewstoday.com/symptoms-of-als/">symptoms</a>, which seemed to grow worse with each passing week. He’d developed a <a href="https://www.mayoclinic.org/diseases-conditions/foot-drop/symptoms-causes/syc-20372628">foot drop</a> that spring, and by early fall, he was noticeably slurring his speech and choking, which frightened us. An astute young pain doctor raised the specter of <a href="https://alsnewstoday.com/what-is-als/">ALS</a>, which alarmed us both.
The ensuing weeks and months were an unrelenting series of highs and lows as we got alternatingly hopeful and pessimistic medical news through frequent appointments and sometimes painful tests — a process that may sound familiar to other families <a href="https://alsnewstoday.com/living-with-als-2/">living with ALS</a>. Often, the disease can take a year or more to diagnose, but by October, Jeff’s <a href="https://alsnewstoday.com/als-diagnosis/">ALS diagnosis</a> was confirmed.
In the first days after his diagnosis, I realize now, we were both in shock. I wanted to be supportive, but I could tell that Jeff didn&#8217;t want me to see him cry and needed time to process. I&#8217;d walk in a nearby park with Rudder and sob. Jeff and I agreed in retrospect that the days and weeks following his diagnosis were among the worst days of the ALS journey, a sentiment that I’ve heard others in the <a href="https://alsnewstoday.com/forums">community</a> share as well.
I lamented, too, the loss of our simple, now fleeting joy — our sweet, quiet contentment, our peaceful days and evenings on the patio. I felt selfish for having focused so much on our physical space and surroundings when life seemed to have just fallen apart.
Jeff, however, had different thoughts.
He reembraced the new life we’d just built. He doubled down on our peaceful surroundings, recognizing them for the gift that they were. Yes, we were heartbroken, but we were together in a place that made us happy. He continued to mow, feed the ducks, play fetch with Rudder, and host friends.
It was the first of many lessons Jeff taught me during his time with ALS — recognizing that happiness and sorrow can occupy the same space. After his diagnosis, our relationship grew even stronger and healthier. We gained perspective. ALS was terrifying and hard, but we approached it together.
Shortly after his diagnosis, Jeff and I got married in that sweet farmhouse on the river with eight people and four dogs in attendance. Though we later moved to a more mobility-friendly place, I still see it from the river sometimes, recognize it for the dream that it was, and thank the universe for bringing joy amid sorrow.
<figure id="attachment_86549" aria-describedby="caption-attachment-86549" style="width: 184px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" class="wp-image-86549 size-medium" src="https://alsnewstoday.com/wp-content/uploads/2023/08/wedding-pic-184x380.jpg" alt="A newly married couple poses for a photo on their wedding day. The man is wearing a gray suit over a pink shirt, and the woman is wearing a sleeveless wedding dress and holding a bouquet of flowers. His head is turned to kiss his wife's forehead, and in his right hand, he holds the leash to the couple's husky mix, who sits at their feet." width="184" height="380" data-wp-pid="86549" /><figcaption id="caption-attachment-86549" class="wp-caption-text">Jeff and Juliet with their dog, Rudder, on their wedding day, shortly after Jeff&#8217;s ALS diagnosis. (Courtesy of Juliet Taylor)</figcaption></figure>
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Note: <a href="https://alsnewstoday.com/">ALS News Today</a> is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or <a href="https://alsnewstoday.com/approved-treatments-for-als/">treatment</a>. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of ALS News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to ALS.

Holding on to happiness when sorrow arrives

Some $2 million in new grants from two U.S. nonprofits are seeking to help scientists globally to find ways to slash the time it takes for an <a href="https://alsnewstoday.com/what-is-als/">amyotrophic lateral sclerosis</a> (ALS) diagnosis.
It&#8217;s now estimated to take up to 16 months from symptom onset before most individuals receive a <a href="https://alsnewstoday.com/als-diagnosis/">diagnosis of ALS</a> — too long, according to the <a href="https://www.als.org/">ALS Association</a> and <a href="https://www.alsfindingacure.org/">ALS Finding a Cure</a>, also known as ALSFAC.
To shorten that timeframe, the two organizations have collaborated on seven new grants, awarded to researchers worldwide following the ALSFAC&#8217;s Early ALS Diagnostics Initiative.
That initiative initially was launched by ALSFAC in the U.S. to find promising digital, molecular, imaging, and electrophysiological diagnostic approaches in ALS. A subsequent <a href="https://www.als.org/research/research-we-fund/our-awards-and-programs/partnership-grants">partnership grant</a> from the ALS Association earlier this year has now enabled an expansion of the number of projects to be funded and extended the initiative&#8217;s reach internationally.
&#8220;The longer it takes for someone to be diagnosed, the longer they are waiting to access the multidisciplinary care, treatments and trials that may help them live longer or with a better quality of life,&#8221; Kuldip Dave, PhD, the ALS Association&#8217;s senior vice president of research, said in a <a href="https://www.prnewswire.com/news-releases/als-finding-a-cure-the-als-association-partner-to-reduce-time-to-initial-als-diagnosis-301903955.html">press release</a>.
[recommended-reading id=81739]
<h3>Goal is to shorten time to diagnosis, now at 10-16 months</h3>
More than 150 years after ALS was first defined, there remains no definitive, universally accepted process for diagnosing the neurodegenerative disorder. This is largely because ALS shares common signs and symptoms with other conditions.
A diagnosis confirmation instead is largely dependent on an observation period to track symptom progression, combined with a series of clinical tests. As such, a diagnosis often can take more than a year. Indeed, it is estimated that patients generally wait about <a href="https://www.sciencedirect.com/science/article/pii/S0022510X20303919">10-16 months</a> from their first symptoms to receive an ALS diagnosis.
&#8220;That&#8217;s why this partnership with ALS Finding a Cure to support the development of new diagnostic approaches is so important,&#8221; Dave said, adding, &#8220;By combining our dollars, we can have a larger impact — funding more projects from researchers all around the world.&#8221;
While on their diagnostic journey, individuals ultimately determined to have ALS often receive unnecessary and expensive surgical procedures and medications. Patients also can become ineligible for clinical trials, which usually enroll people in the first years after symptom onset.
Diagnostic delays also can affect family planning and prevent early administration of <a href="https://alsnewstoday.com/als-treatment/">ALS treatments</a> that can help with disease management.
[quote=&#8221;center&#8221;]Now is a time of unprecedented promise for the field of ALS research and drug development. &#8230; This collaboration between foundations has made possible the support needed to shorten the time to diagnosis.[/quote] 
From developing new diagnostic blood tests to identifying possible biomarkers, the selected grant recipients are working on ways to quicken the time to ALS diagnosis, according to the two nonprofits.
The awardees hail from the U.S. and Europe, and come from academia, healthcare, and industry:
<ul>
<li>Erez Eitan, PhD, the co-founder and chief scientific officer at NeuroDex, with offices in the U.S. and Israel, is working to develop a blood test that measures the activity of genes controlled by the protein TDP-43. This protein forms abnormal clumps in the brain and spinal cord in about 97% of all ALS patients. As such, measuring the genes it controls could potentially be used to diagnose ALS early in the disease.</li>
<li>Mark Garret, MD, a neurologist at Massachusetts General Hospital and Harvard Medical School, aims to develop a decentralized and open innovation platform that will enable remote assessments of limb activity, speech, cognition, and behavior. Such assessments would be done in individuals at higher risk of developing ALS.</li>
<li>Roisin McMackin, PhD, a neuroscientist at Trinity College, in Dublin, Ireland, is seeking to find nerve function markers that help predict ALS in people carrying C9orf72 mutations — the most common genetic cause of ALS. These markers would be used in patients who have such mutations but no ALS symptoms and may help predict disease development.</li>
<li>Patrick Oeckl, PhD, from the Ulm University Hospital, in Germany, aims to study spinal fluid samples from asymptomatic individuals with ALS-linked genetic mutations. The goal of Oeckl&#8217;s research is to identify small protein fragments associated with early-stage ALS that could be used as the basis for a new diagnostic test.</li>
<li>Ghazaleh Sadri-Vakili, PhD, a professor of neurology at Massachusetts General Hospital and Harvard Medical School, is hoping to identify specific gene fusions that can be measured in the blood and spinal fluid and may serve as biomarkers of early ALS. The project specifically targets so-called breakpoint gene fusions.</li>
<li>Ian Thrippleton, PhD, chief technical officer at NemDx, in Massachusetts, aims to develop a comprehensive blood test that will assess TDP-43 activity, in addition to several other biomarkers associated with familial and sporadic ALS. His aim is to determine whether a combination of these biomarkers can help divide ALS patients into patient subgroups.</li>
<li>Philip C. Wong, PhD, a professor of pathology and neuroscience at Johns Hopkins University, in Maryland, will use the funding to develop a test that measures an abnormal protein that is produced when TDP-43 is not working normally.</li>
</ul>
&#8220;Now is a time of unprecedented promise for the field of ALS research and drug development,&#8221; said Merit Cudkowicz, MD, chief medical officer of ALS Finding a Cure.
&#8220;This collaboration between foundations has made possible the support needed to shorten the time to diagnosis. This has been a long-time interest for ALSFAC, and we look forward to advancing a solution towards this key need for the field,&#8221; added Cudkowicz, who also is chief of neurology at Mass General Hospital and the Julieanne Dorn professor of neurology at Harvard Medical School.
The ALS Association funds ALS research globally and supports patients and their families through advocacy and its nationwide clinical care network. ALS Finding a Cure, founded in 2014, seeks to identify scientific gaps in ALS understanding that impede cure discovery.

7 new grants from nonprofits all focus on faster ALS diagnosis

Like many in the <a href="https://alsnewstoday.com/forums">ALS community</a>, I was saddened to learn of the recent death of <a href="https://www.today.com/health/news/sandra-bullock-bryan-randall-als-disease-rcna98745">Bryan Randall</a>, a photographer and the partner of actor <a href="https://people.com/sandra-bullock-called-bryan-randall-love-of-my-life-while-he-battled-als-7571303">Sandra Bullock</a>. I respected that his loved ones honored his request to keep his <a href="https://alsnewstoday.com/als-diagnosis/">ALS diagnosis</a> private throughout the course of his disease. I imagine it was challenging to do so, given that his partner was in the public eye.
Every individual and family affected by <a href="https://alsnewstoday.com/what-is-als/">ALS</a> has difficult decisions to make regarding what information to share, when to share it, and with whom.
For people <a href="https://alsnewstoday.com/living-with-als-2/">living with ALS</a>, there are no wrong answers. I admire those who have used their platform to raise awareness and share about a lesser-known and underfunded disease. At the same time, I have equal regard for those who keep their journey completely private. Living with ALS is challenging enough without feeling the pressure of sharing with others.
Deciding how and what to share was an early consideration for my late husband, Jeff, and me upon his ALS diagnosis in October 2018. Jeff was a reserved person, quiet and thoughtful, and for the most part, he was private.
It was through this lens that he considered whether and how to share news of his diagnosis, and when to do it. We discovered during those difficult early days, and over the 19 months that he lived with ALS, that sharing his journey was fluid and iterative, evolving as the disease progressed.
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<h3>How we communicated Jeff&#8217;s diagnosis</h3>
When he was diagnosed, Jeff’s first priority was sharing the news with his adult daughter and son, and then with the rest of his family. We’d kept them all apprised of his concerning <a href="https://alsnewstoday.com/symptoms-of-als/">symptoms</a> and the battery of tests he was undergoing to determine their cause. When we heard the words “it is ALS,” I believe that among Jeff’s first thoughts was letting his kids know. The three of them were exceptionally close, and he wanted to reassure them, to let them know he was going to live each day as best he could.
The <a href="https://alsnewstoday.com/next-steps-after-als-diagnosis/">first few months</a> that Jeff lived with ALS, we shared the news one-on-one with family and friends, and largely in person when we could. He and I were both still in shock and grieving, so sharing the news sometimes felt like reliving the diagnosis all over again. Our loved ones were understandably sad and shocked, and this was hard for us, too.
In January, three months after his diagnosis, Jeff decided he was ready to go more public with the news. He and I both used social media to connect with family, friends, and colleagues, so we decided that this would be an effective way to communicate going forward. We wrote a post together that shared the news and, more importantly, his feelings about it. In the post, Jeff noted his commitment to living each day, subtly setting the tone for what he wanted: acceptance, positivity, and no pity, with the last being most important for him.
Around the same time, we set up a private “Team Jeff” group on social media where we shared more personal and private updates, including news of his medical appointments and our victories and setbacks. We shared pictures of visits with friends, funny stories, and details of things he, or we, struggled with. Creating this group helped us manage the communication around his illness, demystify the disease, and let people know we were OK to talk about it. For us, the group provided support, humor, and a means to share honestly.
Jeff and I overtly lived by two tenets when it came to communication: one, that every message, even if I wrote it, was approved by him, and two, that we&#8217;d be honest — no sugarcoating, but no dramatizing, either. We wanted to be completely upfront once we did decide to share a piece of information.
I had a third, private tenet that I didn’t share with Jeff, which was that any details of his care and disease would uphold his ever-present dignity, which was core to who he was both before and during ALS. I would always ask before posting a picture and always seek his opinion when I felt like we needed to share some news.
The path of sharing was the right one for him and for us. What I’ve concluded, however, is that each person has the intrinsic right to reveal, or keep entirely private, their journey with ALS — and also to change their mind along the way. Whether in the public eye or a private citizen, no one has the responsibility or obligation to share.
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Note: <a href="https://alsnewstoday.com/">ALS News Today</a> is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or <a href="https://alsnewstoday.com/approved-treatments-for-als/">treatment</a>. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of ALS News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to ALS.

Deciding when and what to share after a diagnosis of ALS

The first text message my late husband, Jeff, ever sent me was just one word. We’d had our first date the previous evening, and our dinner at a sidewalk restaurant on a mild autumn evening in Alexandria, Virginia, was full of laughter. I was happy to see his text the next morning, which I assumed would be to say hello. Instead, his message simply said, “Tigers.”
I didn’t quite know how to respond to “Tigers,” so I waited. Sure enough, he sent me a second message explaining that the previous one had been meant for a group chat with his brothers. The <a href="https://www.mlb.com/tigers" rel="nofollow">Detroit Tigers</a> baseball team was playing that day, and it was his pick to win.
As I got to know Jeff better, I learned about his enduring love of baseball, a passion he shared with his family. Growing up in Michigan, Jeff and his siblings had attended countless Tigers games or listened to them on the radio.
As our relationship grew, we started attending games together, too. We’d go see the <a href="https://www.mlb.com/nationals" rel="nofollow">Washington Nationals</a> most often, but we also saw minor league games. We liked those because we could sit right behind home plate and watch the action up close for just $17 a ticket. During games, Jeff would gently feign exasperation at my relative lack of sports knowledge, but he was happy to share his enthusiasm with me. Attending baseball games together became a favorite pastime for us.
[recommended-reading id=84545]
<figure id="attachment_85123" aria-describedby="caption-attachment-85123" style="width: 265px" class="wp-caption aligncenter"><img loading="lazy" decoding="async" class="wp-image-85123" src="https://alsnewstoday.com/wp-content/uploads/2023/06/jeff-at-orioles-214x380.jpg" alt="A vertical photo of two women flanking a man in a wheelchair. Between the two women is the Baltimore Oriole baseball team mascot. " width="265" height="471" data-wp-pid="85123" /><figcaption id="caption-attachment-85123" class="wp-caption-text">From left, Juliet, Jeff, and their friend Andrea at a Baltimore Orioles game in 2019. (Courtesy of Juliet Taylor)</figcaption></figure>
When Jeff was <a href="https://alsnewstoday.com/als-diagnosis/">diagnosed with ALS</a> in October 2018, we were racked by disbelief and sorrow. In those quiet and shellshocked days, I noticed that he turned to the late New York Yankees legend <a href="https://www.mlb.com/news/lou-gehrig-major-league-debut-100th-anniversary" rel="nofollow">Lou Gehrig</a> as a source of inspiration.
<a href="https://alsnewstoday.com/what-is-als/">ALS</a> is also commonly known as Lou Gehrig’s disease, as Gehrig was diagnosed with it in 1939 and died two years later. Known as the &#8220;Iron Horse&#8221; because of his consistent play, Gehrig held the Major League Baseball record for most consecutive games played — 2,130 — until he voluntarily stopped after ALS weakened his performance. He is widely viewed as one of the greatest baseball players of all time and was the first MLB player to have his number retired.
While Gehrig’s sports prowess and exceptional career are admirable to this day, he&#8217;s most often lauded and remembered for his grace and courage in the face of this devastating disease. During his on-field retirement speech on July 4, 1939, at Yankee Stadium, he shared with fans and fellow players that while he “might have been given a bad break &#8230; I’ve got an awful lot to live for.”
Inspired by this, Jeff approached ALS with the same perspective and attitude. He noticed how Gehrig applied the same fortitude to ALS as he did to baseball and that Gehrig set the tone for how he wanted to live with his disease. Jeff did the same.
Just a few weeks after Jeff’s diagnosis, we made the journey back to Detroit for Thanksgiving, where members of his large and close-knit family were eager to see him. Just before we sat down to dinner, Jeff paused, asked for everyone’s attention, and gave his own speech to our assembled loved ones. I don’t remember each word, but we were all moved by his primary message: “We are going to live.”
In that moment, Jeff wasn’t talking about physical survival. Unfortunately, ALS carries the same fatal diagnosis today that it did when Lou Gehrig was stricken nearly 85 years ago. What Jeff meant instead was that we were all going to live — to embrace life, to enjoy, to create and celebrate moments, to have experiences, to love. He directed how he wanted us to approach <a href="https://alsnewstoday.com/living-with-als-2/">living with ALS</a>, and we, his family, understood. His words provided a road map for the next 19 months as we navigated his illness, making memories and beautiful moments along the way.
Living with ALS is terrifying, exhausting, and surreal. It&#8217;s wrenching to witness the physical weakness and deterioration of our loved ones. And yet, there are moments of beauty, wisdom, peace, and overwhelming love. For those, I credit Jeff. Jeff showed us how to live, and I suspect that Lou Gehrig showed him.
In June 2021, Major League Baseball celebrated the first annual <a href="https://alsnewstoday.com/news/all-mlb-teams-playing-lou-gehrig-day-june-2/">Lou Gehrig Day</a>, now in its third year. I and thousands of others in the ALS community attend a local game on Lou Gehrig Day — June 2 — each year.
Baseball, and Gehrig, will now always have a piece of my heart — as a reminder of my happy marriage to a strong and determined man, as a tightknit community that honors and remembers its own, and as a force for helping to bring awareness and education about the need for <a href="https://alsnewstoday.com/als-treatment/">ALS treatments</a> and cures.
I hope that Lou and Jeff are together somewhere, guiding our fight to end ALS — a fight we must one day win.
<hr />
Note: <a href="https://alsnewstoday.com/">ALS News Today</a> is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of ALS News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to ALS.

Tag: ALS diagnosis