Q & A with Edward Kasarskis, M.D., Ph.D.
Q: I have a few symptoms that make me worry that I might have ALS. I’ve heard it sometimes takes a long time to know for sure if you have the disease. I think it’s time to see a doctor. Should I go to my general practitioner? And what tests are needed to make the diagnosis?
A: You’re asking very important questions. And you’re right; it takes on average about nine to 12 months for someone to be diagnosed with ALS, from the time they first began to notice symptoms. Getting the proper evaluation in a timely way is important, especially since we have a drug, Rilutek, which has been shown to help delay the progression of ALS. Should you have ALS, the sooner you start on the medication, the better.
Why does it take so long to get a diagnosis? Unfortunately, there is no blood test for ALS. Scientists are working hard to develop such a tool because it would not only speed up diagnosis, but also it might help physicians monitor the course of the disease and evaluate the value of potential treatments. But we’re not there yet.
As I have mentioned before, ALS does not start abruptly. Consider Lou Gehrig. At first he never dreamed he had a disease. That’s the same problem all of our patients face. They have some age-related bang-ups and other health issues, including everything from arthritis to diabetes. If they twist their ankle or stumble a little when they’re taking out the garbage, they think nothing of it. It has to register in their mind that what they’re experiencing is something new that isn’t going away and needs medical evaluation.
Such was the case with Gehrig. Early in his disease, he thought he was just getting older and was out of shape. But because he was such a great athlete, his usual .343 batting average only slipped to .295 in 1938, which was still terrific but not anything like he had been doing. During that year, his performance was slowly but consistently falling off. He had no clue in 1938 that a dreadful illness was unfolding and did not seek medical attention until the following year.
In my experience, patients who have "bulbar-onset" disease generally come to medical attention sooner than do others. Because their speech is typically affected, others will most likely notice their problem and say something about it. Perhaps an adult child from out of town will call her parent and think her mother has had a stroke or is drinking because her speech is slurred. Or someone who sings in church notices his voice is not the same. These patients will likely go to an ear-nose-throat (ENT) specialist right away, and he or she may be able to realize the problem is something neurological.
But start with your general practitioner. Since ALS is uncommon, the process usually takes a long time and may involve many health care professionals until the correct diagnosis is established. For example, depending on the nature of your symptoms, you will most likely be referred to a physical therapist, a rheumatologist (who specialized in arthritis), or even a neurosurgeon. If your physician thinks the issue may be neurological, you'll eventually be referred to a neurologist, who is a specialist in neuromuscular diseases and problems of the nervous system.
The neurologist will first want to rule out other diseases that can cause serious weakness, such as myasthenia gravis or Guillain-Barre Syndrome. You’ll be given a thorough physical exam and will be asked about your personal and family medical history. You’ll probably have an EMG and nerve conduction study to help pinpoint the site of the problem (muscle, nerve, or the motor nerve cells in the spinal cord). You will most likely have an MRI or CT scan of the spinal cord or brain, checking to see if a back disk or compressed nerve root may be causing your symptoms. Sometimes the neurologist will want a muscle biopsy, an outpatient procedure, to better understand what is happening.
Should you end up with a diagnosis of ALS, I recommend you get a second opinion from another neurologist, preferably a person who specializes in ALS. As you can appreciate, the disease can be challenging to diagnose, and so it’s important that you be certain that the problem has been clearly defined. Just last week I had a woman in the clinic who was concerned that she might have ALS. But as it turned out, she had an unusual problem of a disk in her thoracic spine (mid-back) that compressed her spinal cord and caused weakness in her legs.
If you have sought care at a large medical center, your case may be discussed and evaluated by a team of different specialists. You can also send your medical record, test results and images electronically or by disk to another neurologist for review.
You can see why the process can end up taking months. It can take weeks to schedule an appointment with each physician, and then it takes time to do the tests, get the results and plot the next step.
Whenever ALS is a consideration, the anxiety levels are high because of the seriousness of the disease. I encourage you to seek medical attention so you can get the care you need as soon as possible. And I wish you all the best!
Edward Kasarskis, M.D., Ph.D. is Director of the multidisciplinary ALS Center at the University of Kentucky Neuroscience Center in Lexington, Kentucky, professor in the Department of Neurology at the University of Kentucky, and Chief of Neurology at the VA Medical Center in Lexington KY.