ALS Diagnosis: The Slowest Part of this Rapidly Progressing Disease
Becoming diagnosed with Amyotrophic Lateral Sclerosis (ALS) is often a slow and difficult process. It can take 9-12 months for specialists to confirm this diagnosis. This is very precious time for someone just given a handful of years to live. For everyone the process is a little different but what is consistent is that it takes too long.
The first step in the diagnosis process is to acknowledge something is wrong. This is sometimes the hardest part because early stage symptoms are subtle and can easily be dismissed or ignored.
For you it may have been the constant tripping or the slurred speech. Maybe it was losing your ability to type or a decline in your ability to sing. Whatever it was either you or a family member started to get worried so you went to your general practitioner. They asked you some questions and maybe ran some tests before they sent you to see another doctor. After being referred two or three more times you found yourself sitting in front of a neurologist. The neurologist looks at the MRI results and the blood tests and notices no abnormalities. Without explanation he runs a slew of other tests on you checking your reflexes, muscle strength, muscle tone, senses of touch and sight, coordination, and balance.
At this point you are confused and probably even frustrated. You have been going from doctor to doctor for the last 9 months with nothing to show for it. Well actually you do have something to show for it. Over these nine months your symptoms have gotten worse, much worse. You now struggle to hold your head up, you have difficulty swallowing your food, and your muscles are twitching and cramping.
Then comes the news. The doctor comes up to you and says, “I don’t know how to tell you this but it looks like you may have ALS”. They then try to explain to you what this means but all you hear is “people with ALS have a 2-5 year life expectancy”. You leave the doctors office once again confused and frustrated but this time for much different reasons.
“On August 24th, 2010, sitting in an exam room, I received the biggest shock I've yet experienced. A doctor, who I had just met that day, had just told me that he felt the most likely explanation for the symptoms I had been experiencing for a year, and for the abnormalities he and a colleague had just seen in my exam, was ALS, a rare terminal illness. He explained that if this were the case, my life would likely end in the next 2-5 years. Dr. Smith shared more thoughts, none of which I recall, and stepped out to give me some time alone. Dazed and assuming the appointment was over, I left the clinic with my head swimming. Dr. Smith, upon finding his exam room empty, quickly reached me by phone to invite me to return the next day with Amy. And so, a new phase of my life began.” -Seth Christensen
You may have been lucky enough to have a much less painful diagnosis process but it probably still took 9 months to a year to get officially diagnosed. The question is why? Why so many doctors? Why does it take so long? Why me?
Why so many doctors?
There are a lot of reasons for this, the biggest reason being ALS is a rare disease that most general practitioners have not dealt with. Another reason for the delay is ALS clinics are usually referral-based so you have to find a non-specialized doctor that can recognize your symptoms so that they can send you to an ALS specialist.
Why does getting a diagnosis take so long?
With no specific test for ALS, the only way to diagnose it is to rule out all other possible causes. There are at least a dozen infectious diseases and neurological disorders that mimic the symptoms of ALS (see list below). Ruling out all other diseases and making sure that a patient does indeed have ALS is a feat for any doctor, even a specialist. This is reflected in the ALS association’s report the 10-15% of all ALS patients are misdiagnosed.
Other disease and disorders that mimic ALS include:
Unfortunately over a century's worth of research on ALS cannot answer this question. There is still no known cause for sporadic ALS. Patents are left with only a handful of speculations as to how they got the disease. A DNA test can show if the disease was inherited, but only about 10% of ALS cases are genetic. With no real answers a vague understanding of what it is you are going up against, fighting ALS can be a daunting task to say the least. And you probably were not given many tools to cope with the major life change.
Sixty-seven yearl-old ALS patient Manny Chirico was diagnosed four years ago. His general practitioner ran CAT scans and MRI tests, all useless in diagnosing ALS. He did not start getting tested for ALS until his wife Margaret did her own research and found that he might have it. He was diagnosed with ALS nine months later. When asked what advice he would give to newly diagnosed ALS patients he said:
“Check it out, and if you do have ALS, it’s OK to grieve but fighting is more important. In the fight, be as proactive as you can, and [open to] what may come down the road. Whether it’s a wheelchair for the shower, or whatever it is to make your projected symptoms easier — do it.” -Manny Chirico
Coping and Support
Learning you have ALS can be devastating. The Mayo Clinic gives some tips to help you and your family cope:
Take time to grieve. The news that you have a fatal condition that will reduce your mobility and independence is difficult. You and your family will likely go through a period of mourning and grief after diagnosis.
Be hopeful. Your team will help you focus on your abilities and healthy living. Some people with ALS live much longer than the three to five years usually associated with this condition. Some live 10 years or more. Maintaining an optimistic outlook can help improve quality of life for people with ALS.
Think beyond the physical changes. Many people with Amyotrophic Lateral Sclerosis lead rewarding lives despite physical limitations. Try to think of ALS as only one part of your life, not your entire identity.
Join a support group. You might find comfort in a support group with others who have ALS. Loved ones helping with your care also might benefit from a support group of other ALS caregivers. Find support groups in your area by talking to your doctor.
Make decisions now about your future medical care. Planning for the future allows you to be in control of decisions about your life and your care. With the help of your doctor, hospice nurse or social worker, you can decide whether you want certain life-extending procedures.
You can also decide where you want to spend your final days. You might consider hospice care options. Planning for the future can help you and your loved ones calm anxieties.
Sharing your Diagnosis can also be a difficult and important step to take. Advocate Lora Jensen explained:
“Being diagnosed with Amyotrophic lateral sclerosis can be an overwhelming experience. It’s very normal to be flooded with emotions ranging from sadness, fear, anger, and anxiety. As you mentally and emotionally process your diagnosis, the thought of sharing the diagnosis with others can seem like a little too much.
Although it may feel implausible, research has shown that sharing your diagnosis has many benefits and most people feel better after doing it. Sharing your diagnosis also opens the door for social support, which will be needed as you navigate the mental, physical and emotional demands of living with ALS.”
Breaking the news of your diagnosis is not a simple conversation. It can be awkward to start, and then get messy and emotional, but it’s a conversation most people have with at least their close family and friends.
It is important to surround yourself with people who can support you both physically and emotionally.