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Do you choose to speak up or keep your ALS journey private?
Sharing that you have ALS or updates about your condition can be overwhelming. Some people are very open, like me. I was advocating for ALS research and pALS long before I was diagnosed.
I also find that speaking about ALS, and my treatments helps me process things. It isn’t right or wrong to speak up or keep information private. It is a personal choice that we each have to make. Juilet said it perfectly in her recent column https://alsnewstoday.com/columns/deciding-when-what-share-after-diagnosis-als/
Have you read this column? How do you decide to share information regarding ALS with family and/or friends? Do you share a lot of information, or do you keep most of it private?
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9 Replies
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I was diagnosed three years ago with upper limb onset. I shared information with my family from the beginning, but I put on a brave face with my friends.
As my condition has progressed, and my mobility has become more limited, I am finding it therapeutic to share the details of what I’m going through with friends. I am overwhelmed with the outpouring of love and support from them since I have decided to share more details.
Surprisingly, my family is still in denial. None of them live nearby, so it’s not as real for them as it is for my network of friends. I truly think this journey would be even more frightening if I had to go through it alone.
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During the beginning of my diagnosis I brought it out to my family and coworkers. I decided to be as open about my diagnosis as possible. Many people in my circle did not know what Als was. Due to the fact that they had seen my progression, it helped them become aware of what Als is. I decided to go on social media to raise awareness. I share my good time and my bad times on my sites. It Is the journey of my life now.
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My husband, who was diagnosed with ALS in 2022, is a very private person. I have posted about his progress, both positive and negative, in ALS support groups. I do not post his photo, and he belongs to the same groups but never posts anything. I respect his choice. He does reveal the status of his condition to visitors or those who phone him, but those are close friends and family.
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Can I ask any that are here, how did they finally come to your diagnosis? My husband was diagnosed over 2 1/2 years ago with Bulbar palsy. He has lack of speech, swallowing, and much weight loss. He just had the EMG test two days ago. This new neurologist thinks it is not an ALS problem. Did any of you have this test done? The next test is a spinal tap. Please any info would be appreciated.
Connie-
@ Connie,
It is not uncommon to be misdiagnosed as having ALS when you don’t or not having it when you do. I think the not knowing for certain would be a lot to deal with too.
For most people, those with sporadic ALS, I believe it starts with ruling any other possibilities out. Routine lab work looking for any other cause is usually done. (Forum friends please speak up, correct me or add any information here!) An EMG is done to confirm nerve or muscle damage. (Electromyography (EMG) measures muscle response or electrical activity in response to a nerve’s stimulation of the muscle. The test is used to help detect neuromuscular abnormalities. from the web) It is kind of the last option standing. I personally think there are multiple causes of ALS – I refer to it as a cluster disease. Nothing scientific about that 🙂 ! If they can’t figure it out, and it results in muscle deterioration and nerve issues, tada! You have ALS.
For others, like myself, have a genetic mutation that has been confirmed to contribute to the nerves damage and muscle deterioration. I had been volunteering for medical research so they had been doing EMGs for over 10 years and could track sublet changes that I probably wouldn’t have noticed at that time. Of course I had a genetic test done, 3 times! (As if that is going to change) They did routine blood work and spinal taps. They were looking for elevated neurofilament light chains. Those increase with ALS, MS, and head or spinal injuries among other things.
I’m not a doctor, or a scientist. This is the way I understand the process. Other’s have had different experiences. If you look at the ALS Association
“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.” from the ALS Association link above.
I hope this was helpful,Amanda
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Diagnosed June 21,2022. My birthday! It was simple. Same symptoms as my mom and brother. A simple genetic test confirmed.
As for letting people know, I’m very selective. Friends and family. Honestly no one wants to hear about my problems. Most have their own problems. I do explain why they don’t understand me when I speak. Most are sympathetic (one mocked me), but I don’t want sympathy. Just want to feel normal for a moment.-
Amanda, thank you for all your info and input. I think you have hit the nail on the head. Yes, for us, it has taken months to see a Dr. instead of weeks. Very sad, as my husband gets weaker and weaker. We await an appointment for the spinal tap. If I can ask, what does that show exactly? I appreciate your comments.
Connie-
@ Connie,
The spinal tap also can detect certain biomarkers of nerve damage, such as levels of structural nerve proteins called neurofilaments (NFL). These neurofilaments may be helpful for tracking ALS disease progression. Higher numbers suggests more rapid progression. I googled to make sure I had the science below – so what is in quotes should have a website that you can read more details on. 🙂 My thoughts are in bold italics.
Below is an abstract from an article that helps explain the NFL.
Cerebrospinal fluid (CSF) findings in amyotrophic lateral sclerosis
“The cerebrospinal fluid (CSF) was examined in 90 amyotrophic lateral sclerosis (ALS) patients and in 50 age-matched normal controls. Total protein concentration was significantly higher in ALS patients than in normal controls. CSF IgG and albumin, quantitatively determined by single radial immunodiffusion, were significantly increased in ALS. No difference in serum concentrations was observed between ALS patients and normal controls. On isoelectric focusing a clearcut “fingerprint” pattern was observed in 11 of 12 cases. These findings support the hypothesis that blood-brain barrier damage occurs in ALS. The finding of a higher mononuclear cell count in young ALS patients is briefly discussed in the light of the hypothesis that an exogenous agent might be of some relevance in pathogenesis. An alteration of at least one of the CSF parameters considered was found in 45.5% of ALS cases.”
So, my understanding is that if the proteins, the NFL are elevated it is a sign of damage to axons. An axon, which is also called a nerve fibre, is the part of the nerve cell or neuron that carries nerve impulses away from the cell body. There is usually one axon connected to a muscle. When that axon is damaged (or getting damaged) we start to see signs such as cramping, twitching, loss of use….. The ALS research indicates that the Neurofilament light chain (NfL) is a biomarker that can help to identify ALS and other neurodegenerative diseases. It increases when there is damage to the spinal cord, or brian for many things, not just ALS. Ms, head trauma, other diseases and even with age. Research is trying to establish what is a “typical level (age dependent) from what is indictive of ALS or another ailment. I’m sure someone will chime in if I am off or not explaining this clearly.
“Neurofilament light chain protein (NfL, about 68 kDa) is one of many proteins in the neuronal cytoskeleton, the protein is released upon axonal damage in the central nervous system (CNS) and can be detected in the cerebrospinal fluid (CSF) and after passage over the blood brain barrier also in serum and EDTA-plasma.”
Mass General in Boston, has a great website with information about ALS and the diagnostic process. I cut and paste their information below. They are one of the top research centers, and participate in the pre-fALS study among many others for ALS. The web link is https://pubmed.ncbi.nlm.nih.gov/6737012/
The Diagnostic Process
Step 1: Neurological Exam
The first important step in the diagnostic process is an examination by a neurologist. This will include detailed family, work, and environmental histories. During the exam, the neurologist will look for typical features of ALS that may include:
- Muscle weakness (which is often only on one side of the body, such as one arm or one leg) as well as changes in the character of the individual’s voice (especially slurred words or slowness of speech). The exam will evaluate muscles of the mouth, the tongue, and those involved in chewing and swallowing.
- Lower Motor Neuron (LMN) features, such as muscles shrinking in size or muscle twitches. These twitches are called fasciculations and may occur when muscles contract without the nerve cells fully controlling them.
- Upper Motor Neuron (UMN) features, such as hyperactive reflexes and muscle spasticity (a type of tightness and rigidity of the muscles).
- Emotional changes resulting in the loss of some control of emotional responses, such as uncontrolled crying or laughing. The exam will also look at changes in thinking, such as loss of good judgment or loss of common social skills. The examiner will also look for problems in verbal fluency and word recognition abilities. These types of symptoms are less common or may be present but not readily noticeable.
The neurologist will also look for signs such as pain, loss of sensation, or extra-pyramidal rigidity, which is a different type of muscle rigidity that is frequently seen in Parkinson’s type disorders.
Step 2: Diagnostic Tests
The next step in the diagnostic process often involves a series of test. These typically include an MRI (magnetic resonance imaging) of the neck, and sometimes of the head and lower spine, an EMG (electromyography) which tests nerve conduction, and a series of blood tests.
Sometimes urine tests, genetic tests, or a lumbar puncture (also called a spinal tap) are also necessary.
EMG
The EMG is a very important part of the diagnostic procedure. Although this test can sometimes be uncomfortable, it is very important to have it done.
In the first part of the EMG, small electric shocks are sent through the nerves to measure how fast they conduct electricity and to find out whether there is any nerve damage. The shocks tend to feel like the kind you get from static electricity but may sometimes feel a bit stronger.
This first part of the EMG determines whether the individual has “nerve block,” which is a feature of a different disease called multifocal motor neuropathy. There is a chart at the end of this section which explains this disease a bit more. The first portion of the EMG also tests whether the nerves that communicate sensation are affected, which may also indicate a disease other than ALS.
The second part of the EMG tests the electrical activity of selected muscles. This is done by inserting a very fine needle into the selected muscles and using it to “listen” to the pattern of electrical activity in these muscles. No electric shocks are involved in this part of the test and the needle does not inject anything into, or take anything out of, your muscles.
MRI
An MRI is a painless, non-invasive procedure that offers a very detailed picture of the spinal cord, the nerves that come out of the spinal cord, and the bones and connective tissues that surround and protect the spinal cord. It shows more detail than a CAT (computed axial tomography) scan or X-rays. The MRI will help rule out pressure on the spinal cord or major nerves (such as from a herniated vertebral disk), Multiple Sclerosis, and tumors or bony abnormalities that compress the nerves. It can help detect vascular changes and strokes that sometimes affect the spinal cord or brain.
The MRI takes about 30 minutes. The individual having the MRI lies down inside a machine that is basically a large, rotating magnet. The test is noisy but it is painless. Some people have trouble being in a small, confined spaces and it is important to tell the doctor about this before the MRI begins so that medication can be given to help the person relax.
Blood, Urine and Other Tests: Blood tests are used to look for evidence of other diseases whose symptoms are similar to early signs of ALS. These include tests for thyroid and parathyroid disease, vitamin B12 deficiency, HIV, hepatitis, auto-immune diseases, and some types of cancer. Creatine kinase (CK), a muscle enzyme released when muscles are injured or die, is also measured.
Specialized blood tests, such as autoimmune antibody tests, anti-GM1 antibody tests, and tests looking for high levels of protein in the blood and urine that may be related to some types of cancers, are also performed. Depending on the individual’s work and environmental history, the doctor may also test his or her urine for heavy metals.
In some rare cases, genetic tests and tests of hexosaminidase A levels, which can be related to juvenile spinal muscle atrophy, may also be performed. Genetic testing for ALS is usually only done when someone else in the family has ALS.
Occasionally, a lumbar puncture (also called a spinal tap) may be required. For this test, a small needle is inserted into the lowest part of the spine (below the spinal cord) to remove fluid which will be examined for abnormal cells. A lumbar puncture is usually done only if the individual has unusual features of ALS, such as spinal nerve abnormalities, or has no sign of abnormal reflexes or spasticity. Similarly, some people who have uncommon patterns of weakness, pain, or very high creatine kinase (CK) levels may need a muscle biopsy to look for muscle-specific diseases. However, this is rarely necessary.
Step 3: Diagnosis: Once these tests have been completed, the neurologist may be able to tell whether an individual has ALS. Sometimes, not all of the symptoms and findings that are required to make the diagnosis are present, especially in the early phase of the disease. In this case, the neurologist will repeat the physical and neurological exams and the EMG at a later date to look for changes over time.
https://www.massgeneral.org/neurology/als/patient-education/diagnosing-als -
Wow, you gave us a wealth of info. Some we knew, but not all. It is frustrating, that’s for sure. We will wait for the appointment for the spinal tap. My husband had one in the army at Ft Ord, CA. at 18 years of age, for spinal meningitis. He said he would never do another again. But the Dr. assured him, it is not the same now. All done by computer, etc. We will see, we just hope we don’t have to wait months to get this done. Thank you for your response, I feel I have someone to talk with. 👍🌸
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Connie,
Spinal taps by computer?? Hmmm… Let me know what that is like. My doctor uses several shots of lidocaine prior to the procedure. That, for sure, is the worst part for me. It only takes a couple of minutes. When I can, I bring someone with me and they hold my hand and keep me talking. The doctor will explain each step so I’m not surprised. Other than the lidocaine, I’m good not knowing 🙂
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This has been a very hard disease to understand. It hit me out of the blue and the shock and sadness set in. I was diagnosed August 2022 so it’s been a year. I have AFO’s braces to help me walk and I have bilateral foot drop so mine started in my feet. I never told anyone but my administrator because I am a teacher and still teaching Elementary kids want to race me, middle school kids try to mow me down and high school kids always open the door for me. I’m just now able to talk about it without crying or feeling sorry for myself. But some moments of the day, emotions take over. But this is my disease and I will decide who and when I tell someone..
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