Beyond Sherlock Holmes: Our Team Approach to Holistic ALS Care
Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease that affects the nerve cells of the brain and spinal cord. As these cells degenerate, the brain’s contact with and control of the muscles fades.
People with ALS lose their ability to walk, eat, and breathe. ALS is fatal, and once it starts it inexorably progresses.
In the Neurology Clinic at UNM Health Sciences Center, we diagnose and care for people with ALS. Our collaborative team undertakes these daunting tasks because everyone deserves the benefit of excellent medical care. Gene therapies are now showing progress in treating other neuromuscular diseases, so it’s only a matter of time before science has an answer for ALS, too.
From a clinician’s perspective, diagnosing ALS is a little like being a detective. Some have even compared us to Sherlock Holmes. That’s flattering, and fairly accurate.
There is no simple way to find out if a patient has ALS, so it’s crucial to collect and interpret clinical “clues.” No blood test nor scan can detect it, though we can use a variety of tests to rule out other conditions.
Neurologists—and the residents and fellows on our care team—must work like detectives, balancing empathy and understanding with close attention to detail, keeping an eye out for small clues that could indicate ALS.
What We Know About ALS
Early symptoms include muscle weakness and stiffness. This can lead to tripping or dropping items, abnormal fatigue, slurred speech, and other symptoms. As the diseases progresses, loss of control of vital functions follows. When the muscles that regulate breathing are eventually impacted, people with ALS need permanent support from a ventilator.
The average survival is three to five years, though some people with ALS live for 10 years or longer. The speed and progression of symptoms is different for everyone, and it is common to experience weeks or months without symptom progression.
The average age when ALS is diagnosed is 53, though younger people can be afflicted. ALS is 20% more common in men than women, and military veterans are more likely to be diagnosed than others.
Classically, (we are seeing that this number is probably not accurate given the bevy of recent testing that has exploded in the field) 90% of cases are known as sporadic ALS and have no known genetic origin. The remaining 10% are called familial ALS and are caused by an inherited, mutated gene. There is a 50% chance that the children of a parent with familial ALS will inherit the gene mutation and may develop the disease.
Given the progressive nature of ALS and all its variables, it is critical that perceptive clinicians make a correct diagnosis.
Detective Work: Diagnosing ALS
Each patient comes to our clinic with different symptoms—ALS is not heterogenous, and many neuromuscular diseases can present similarly.When working with patients, clinicians must be perceptive and empathetic. Delivering a diagnosis of ALS is difficult and can be emotionally devastating for patients and their families.
It is critical for neurologists and trainees to take a thoughtful approach, remembering that patients will require a great deal of care and must confront ALS themselves each day. They will struggle with their loss of independence, and many will develop mental health complications.
It is important to give our patients answers to their questions, even if it is news nobody would want to receive. Once they mystery of diagnosis is solved, the hard work of patient care begins.
Our Clinic’s Holistic Approach
Our ALS clinic at UNM Health is sponsored by both the ALS Association and the Muscular Dystrophy Association, and we work closely with both foundations. Ours is the only ALS clinic in New Mexico outside of the Veteran’s Affairs system. Patients come from all over the southwestern United States to receive treatment for ALS and other motor neuron diseases.
We’re committed to the holistic health of our patients. ALS often comes along with comorbidities, such as cardiovascular risk factors and neurological disorders such as dementia, Parkinson’s disease or epilepsy. Providing care to patients from diverse, often historically marginalized communities with minimal access to healthcare is a critical part of our mission.
Symptoms and mental health conditions caused by the disease also require specific treatment. Many patients with ALS develop disruptive problems such as:
- Anxiety
- Depression
- Difficulty swallowing
- Fatigue
- Insomnia
- Loss of appetite
- Shortness of breath
- Stiffness/cramps
- Uncontrolled laughing or crying
In our clinic, we address these comorbidities and symptoms as part of our model of care. For instance, we do quite a bit of pain management work with our patients. ALS doesn’t cause pain, but the stiffening of joints can be quite painful. This is most often seen in the neck, back and shoulders. Stretching and treatments like vibration and electrical stimulation can be helpful, as can over the counter and prescription medications.
It would not be possible to care for ALS patients without a dedicated team approach. Our team includes neurologists like me, as well as physical, occupational, and speech therapists, dietitians, respiratory therapists, nurses, medical assistants and social workers. Caring for people with ALS and supporting their families takes an enormous effort and dedication among all involved.
Gene therapies are now showing progress in treating other neuromuscular diseases, so it’s only a matter of time before science has an answer for ALS too.
Optimism for Future ALS Treatments
ALS is a fatal disease, but it won’t always be. It’s just a matter of time until we solve the mysteries of ALS for good.
We have so many examples of science overcoming the limitations of the physical body. Once untreatable, the innovation of chemotherapy changed how we view cancer. Many cancers are now curable, and patients live full lives. The same can be true for ALS.
Recent developments in treating other motor neuron diseases give further cause for hope. Spinal muscular atrophy (SMA) is a rare, often fatal hereditary disease that impacts muscle movement and strength, usually in infants. Since 2016, the U.S. Food and Drug Administration (FDA) has approved two drugs to treat SMA, and life expectancy has soared.
Next generation genetic sequencing also shows great promise. A vast number of diagnoses can be made by examining the genome, and several gene-targeted therapies for ALS are on their way.
One such treatment, ABP-102, recently got a green light from the FDA to begin clinical trials. If successful, this therapy could help as many as 20% of people with FALS. Other trials are farther along -- and we’re just getting started. Join our team to train with world-class neurologists and be a part of what’s next.
Curious about training in neurology? Schedule a call with JJ Maloney, Medical Education Program Manager for the UNM HSC Department of Neurology. Book Now