My Path to an ALS Diagnosis

My wife Johnna first noticed my initial symptom in early 2016-a minor but constant twitching in my right triceps muscle. I had seen the twitches myself previously, but hadn’t thought much of them. We thought that it was unusual but of no real concern at the time. By July of that year the twitching had spread slightly and an appointment was made with my primary care doctor in August of 2016. After that appointment I was referred to a neurologist who eventually ordered MRIs of the spine and did nerve conduction studies. The MRIs showed that I had a fairly narrow spinal cord pathway, which I had known because I had a pinched nerve in that area years ago. The initial diagnosis was that my symptoms were likely due to spinal cord compression. My neurologist felt that I should meet with a neurosurgeon to discuss surgical options.

During the few weeks prior to that appointment, I started to sense an uncoordinated feeling in my legs. I didn’t stumble or fall, but I had to pay more attention when walking–especially after sitting for a while. I met with a neurosurgeon in early December of 2016, and after a brief physical exam and review of the MRI images, the neurosurgeon concluded that this was not a spinal cord compression issue. That’s when things got serious, and I started to really get worried about what was happening to me. By this time, the twitching had spread to all of my limbs, and was progressing down my arms into my hands and fingers. My neurologist quickly ordered a number of tests, including a complete blood analysis and a brain MRI, and he set up appointments with a second neurosurgeon and a neuromuscular disease specialist. I had the brain MRI just before Christmas, 2016, and got the results just after. The images showed evidence of a motor neuron disease.

It was a very difficult time for us, but we have three young daughters and we were nowhere near ready to tell them what was going on. Luckily my symptoms were not yet noticeable to them. While the second neurosurgeon thought that surgery might be a solution, the neuromuscular disease specialist diagnosed me with ALS on January 18th, 2017. This diagnosis was based primarily on the results of the brain MRI, electromyogram (EMG) tests, and the presence of widespread fasciculations. I did not yet display the typical loss of strength, perhaps given my age and the fact that I had exercised most of my adult life. We knew an ALS diagnosis was becoming more likely after every test result, but no matter how much you prepare yourself there is no way to describe the feeling when your doctor tells you that you have ALS. It is the sum of all fears.


What is ALS?

Understanding Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's Disease, requires understanding the role of neurons in the human body. Neurons are cells in the human body that transmit information through electrical and chemical signals. The information is carried from one neuron to the next by synapses, which are specialized connections between neurons. The human brain, spinal cord, and the sensory system are all comprised of billions of neurons. Neurons carry information about what we feel, see, hear, and smell to the brain, and also carry the instructions from the brain to contract voluntary muscles, like those in the arm, as well as involuntary muscles like the heart. 

The chains of neurons that reach from the brain to the muscle fibers throughout the body are called motor neurons. ALS is a disease that, for reasons not currently fully understood, causes the degeneration of motor neurons. This degeneration usually starts in the spinal cord and brain, but the symptoms of weakness or twitching are typically initially noticed in one area of the body, such as an arm. After a period of degeneration, the motor neurons eventually atrophy and die. When a muscle fiber no longer has a connection to the brain through the motor neuron pathway, it too will atrophy and die.

Since all the motor neurons do not degenerate and die at the same time or rate, the loss of muscle control and muscle mass is progressive as fewer and fewer brain-to-muscle neuron pathsremain functioning. Eventually nearly all muscle control will be lost and paralysis results. Difficulty in swallowing and breathing will eventually occur if they were not early symptoms, and a feeding tube and respirator will typically be required to preserve life. 

The rate of progression between patients can vary greatly. A fast progression generally leads to death from ALS within two years, while a slow progression may take 5 years or more. Each ALS patient will have their own rate, but the average life expectancy is 2-4 years after diagnosis, and only about 10% of patients will live more than 10 years. About 5-10% of ALS cases are believed to be the result of an inherited gene, but the remaining cases have no known specific cause. 

Despite decades of research there is currently no cure for ALS, nor is there any method of prevention. Treatments for ALS have focused on treating the symptoms of the disease and improving quality of life as symptoms progress. Riluzole and Radicava are the only FDA-approved treatments that have been clinically shown to offer a benefit to patients, but the benefit is only a minor slowdown in progression and delayed onset of some symptoms.


Measuring ALS Disease Progression

Using ALSFRS-R Scores

The most common method of measuring an ALS patient’s disease progression is monitoring his or her ALS Functional Rating Scale-Revised (ALSFRS-R) score over time. This rating method consists of asking the patient 12 questions about their ability to complete certain physical tasks compared to their performance prior to noticing any ALS symptoms. The questions cover walking, handwriting, eating, breathing, and dressing among others. The patient’s response to each question is scored in a range from 0 to 4, with 0 indicating the patient is completely unable to perform the task and 4 indicating the task can be performed with no change in ability. The sum of the scores in all twelve categories allows for an overall score ranging from 0 to 48. 

This tool provides a less subjective measurement of a patient’s ability than the opinions of either the patient or his or her doctor, and is therefore relied upon as a common standard to measure the rate of progression of the disease. This method is often used in clinical trials to determine whether an ALS treatment is effective or not. A sample ALSFRS-R questionnaire can be found here.