My Quora postings about ALS

These are my postings from Quora on the topic of ALS.  The links to websites do not work in this document version (yet).  To get active links go to Quora.com and do a search for the bold questions listed below.  Below the older postings are at the bottom.

In cases of diaphragm paralysis, what is there to do about the build up of mucus?
Many people with ALS have progressive loss of diaphragm strength. Clinical trials of diaphragm pacing to compensate for nerve death revealed earlier death and were abandoned. In order to cope with the inability to clear mucus, many of us routinely use a device called a Cough Assist. A mask is held over the mouth and nose. When the patient inhales, the device gently blows air helping to expand the lungs. It then abruptly begins to suck air. With that suction, the patient’s ineffective throat clearing and cough bring out some of the mucus. Many repetitions help to clear the upper airways. Some also use guaifenesin to thin the mucus.
3/3/2018

What causes the huge weight losses for a patient with end-stage cancer?
Thank you for posting this question. I do not have cancer, but thanks to ALS I dropped 25 pounds reducing BMI to 18.7. Reading up to answer your question has helped me. The parallels to ALS are striking.
Cancer commonly leads to marked weight loss. Many factors go into this. Much of what follows is based on Cancer cachexia.   https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3227249/​   “Cancer cachexia is a wasting syndrome characterized by weight loss, anorexia, asthenia and anemia. The pathogenicity of this syndrome is multifactorial, due to a complex interaction of tumor and host factors. The signs and symptoms of cachexia are considered as the prognostic parameters in cancer patients.”
Starvation or anoxia nervosa cause loss of fat with preservation of muscle. Cancer cachexia does not discriminate; both are lost in similar amounts. Nutritional supplements do not arrest or reverse the weight loss from cancer.
Resting Energy Expenditure (REE) in cancer patients varies with the type of malignancy. It is high in lung and pancreatic cancer, but there is no increase in gastric and colorectal cancer. Another reason for an increased REE is due to an increased thermogenesis in brown adipose tissue or in skeletal muscle. Brown adipose tissue (BAT) is increased in cachetic patients when compared to age-matched controls.
Anorexia comes with the cancer, not from the chemothrerapy. It does not resolve with stopping chemo. Supplements whether by mouth or by vein (parenteral nutrition) do not counteract the wasting.
“Early satiety, that is, feeling full after taking even a small amount of food is reported in cancer patients…Cholecystokinin (CCK) was discovered in 1928, as one of the first satiety-inducing peptide in the gut. In addition to inhibiting food intake, CCK stimulates pancreatic secretion, gall bladder contraction, and intestinal motility, but it inhibits gastric mobility.” If the stomach fails to empty, you feel full quickly.
Cancer patients have decreased taste and sense of smell. This may be the effect of the tumors of the GI tract or due to psychological depression. In addition, the release of chemicals by the tumor or host immune system may induce anorexia.
“The mechanism involved in cancer cachexia appears to be complex and multifactorial. Although the loss of body weight, anorexia, and anemia, leading to asthenia, characterizes the morbidity status of cancer cachexia, the main cause of death is due to respiratory failure.”
2/13/2018



How do I recover from finding my beloved dad passed away from cardiac arrest with ALS alone in his hospital bed within 2 minutes of arriving and performed CPR immediately while I have severe PTSD?
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I am sorry for your loss. I do not think that I know you or your father, but the experience touches me in many ways.

I have performed CPR many times, solo on one occasion. As is usual, most of those people were not brought back to life. When someone has a cardiac arrest, there are serious problems already present. The failure of CPR is not a sign that the rescuer has failed. It was the body that failed.

I have ALS. Just this month I completed a MOLST (Medical Orders for Life Sustaining Treatment). I chose not to have cardiac resuscitation. It is not that I want to die now; rather I recognize that this ALS damaged body is unlikely to have a good recovery should it endure a cardiac arrest.

I use noninvasive ventilatory support similar to BiPap. I am unsure about whether I will opt for a tracheostomy when breathing gets still worse. People with ALS who opt for tube feeding and a tracheostomy and ventilator, if the have good care, may survive to reach a “locked in state” which in its most severe form means no expressive communication. They cannot say yes or no even with eye movements. Do I want to get there? I am not there or even close, but I have addressed this in my MOLST. If 30 days pass with me unable to affirm a desire to continue invasive life support, then it is to be stopped.

My wife is apprehensive. How will she know for certain that I have not changed my mind? (She won’t.) If she comes into the house and hears the ventilator alarm announcing that I am no longer alive, how will she cope?

So why am I writing all about me? I am doing so because this is also all about you and your father. You are bereaved. You are traumatized. You knew that you father had limited time, but likely it seems that the cardiac arrest just suddenly happened. “How do I recover?” Many of the people who attend our ALS monthly support group do so long after their loved one has died. The mother of a man with ALS has just decided that after his death, she will leave retirement and go back to work as a physical therapist to help people with ALS. Talk is important to healing whether it be with family, friends, a pastor, a counselor, a support group, or simply keeping a journal. For PTSD therapy must be individualized, but the effective treatments have been shown to be (starting with best) trauma focused cognitive behavioral therapy, SSRI, SSNI, then quetiapine, if needed.

It might help to write a letter to your dad.
1/29/2018



Has anyone managed to explain why amyotrophic lateral sclerosis has bigger incidence among physically active individuals?
It is not established that ALS has a bigger incidence among physically active individuals. If this is so, here is a plausible explanation. Age is a major risk factor for ALS. Those who have been active are less likely to have died of an early heart attack, so they get old enough to get ALS.

Many athletes have been diagnosed with ALS, but many of those diagnoses may be in error. The neurologic diagnosis may really be due to repeated head injuries (chronic traumatic encephalopathy) and performance enhancing drugs.
This link is to a very thorough and recent review of possible risk factors.

Risk factors for amyotrophic lateral sclerosis
12/28/2017


How long can someone last that hasn’t ate in 8 days (J-tube), and no water in 6 days with ALS, and they say he is in a coma?
It varies a lot. If inactive with no fever, diarrhea or vomiting, then up to 2 weeks.
Fluid intake has the biggest effect on immediate survival. Our bodies tend to have several weeks worth of reserve energy from food stores, but lack of fluid causes problems with kidney function within a few days. When someone is no longer taking in any fluid, and if he or she is bedridden (and so needs little fluid) then this person may live as little as a few days or as long as a couple of weeks.
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Asked and Answered - Canadian Virtual Hospice
12/22/2017


How is amyotrophic lateral sclerosis inherited?
The more common genetic defects are described below. There are others being evaluated.

“Mutations in several genes can cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene account for 30 to 40 percent of familial ALS in the United States and Europe. Worldwide, SOD1 gene mutations cause 15 to 20 percent of familial ALS, and TARDBP and FUS gene mutations each account for about 5 percent of cases. The other genes that have been associated with familial ALS each account for a small proportion of cases. It is estimated that 60 percent of individuals with familial ALS have an identified genetic mutation. The cause of the condition in the remaining individuals is unknown.
“The C9orf72, SOD1, TARDBP, and FUS genes are key to the normal functioning of motor neurons and other cells. It is unclear how mutations in these genes contribute to the death of motor neurons, but it is thought that motor neurons are more sensitive to disruptions in function because of their large size. Most motor neurons affected by ALS have a buildup of protein clumps (aggregates); however, it is unknown whether these aggregates are involved in causing ALS or are a byproduct of the dying cell.” Amyotrophic lateral sclerosis
12/21/2017

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How can some people say that their ALS is reversed, are these cased studied?
Richard Bedlack, MD, PhD, the Director at Duke ALS Clinic, has been devoted to identifying cases of ALS reversals. His research foci are:
Investigator-initiated and multi-center clinical trials testing new treatments for amyotrophic lateral sclerosis and diabetic neuropathy.
Epidemiologic studies to better understand the causes and variability in prognosis of amyotrophic lateral sclerosis and diabetic neuropathy.
Basic science studies to develop novel biomarkers for amyotrophic lateral sclerosis.
He is leader of ALS Untangled which is an effort to review the available research on alternative, unproven approaches to treatment. ALSUntangled.com - Home Eric Valor, a Quaoran, is active in that program.
Here is a summary by Bedlack. ALS Reversals: What Are They and How Can We Make Them Happen More Often?
Here is another site about ALS reversals. ALS Reversals
12/18/2017
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Is drinking original Ensure daily for breakfast bad? If yes, compared to what?
Having lost 25 pounds in the past 2 years due to ALS, I have looked into this. The original Ensure has as it first ingredients “Water, Corn Maltodextrin, Sugar, Milk Protein Concentrate, Canola Oil, Soy Protein Isolate, Cocoa Powder (Processed with Alkali), Corn Oil”. Water is fine. Maltodextrin is a simple carbohydrate readily broken down to sugar. Sugar is sugar. So far nothing of real value. Protein and oil are fine, although I would prefer olive oil. Calories 220. Calories from sugar and maltodextrin (carbs) 132. Calories from fat 50.
As I sit here I am sipping through a straw to take in the soup a friend made and that my wife put through the blender for me. It is not quite as easy as opening a can of Ensure, but nutritionally it is better. Tastes better too.
​12/14/2017


What can cause a loss in ab definition, while there is no change in caloric consumption?
In the past 2 years I have lost 25 pounds (11 kg) and gained 2 inches (5 cm) on my waist.  This is from loss of muscle due to neuromuscular disease (ALS).  This occurs more slowly without disease in many causing older men to often have “pot bellies”.  Weight stays stable, but shape changes.
12/9/2017

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How does a traumatic brain injury correlate with amyotrophic lateral sclerosis (ALS)?
ALS varies a lot from patient to patient. Some have genetic factors. The nature of its onset varies a lot. Rate and course of progression vary a lot. This is likely because what we call ALS is not one disease. This is comparable to there being different kinds of lung cancer or different kinds of dementia.
With this challenging disease people have been seeking causes, and concussion appeared to be a potential cause. That may be incorrect. As association has been seen between military service in the US and ALS; but that is not found in France. Exposure to blue-green algae has been identified as a possible trigger, but many cases do not appear to be connected to exposure.
Earlier studies had found an apparent connection between moderate and severe head injury and developing neurodegenerative disease. A research study published July 2107 failed to support this. What they found was that “[i]n working-aged persons, a history of moderate-to-severe TBI is associated with an increased risk for future dementia but not for Parkinson disease or amyotrophic lateral sclerosis.” Risk of hospitalization with neurodegenerative disease after moderate-to-severe traumatic brain injury in the working-age population: A retrospective cohort study using the Finnish national health registries
Another study in 2015 in rats found “that a one-time focal traumatic brain injury does not affect the disease time course or survival in the SOD1G93A 18 rat model of ALS.” http://www.eneuro.org/content/en...
From another study in mice in 2015 “data demonstrate that mild-TBI induces inflammation and oxidative stress and negatively impacts muscle denervation and motor performance, suggesting mild-TBI can potentiate motor neuron pathology and influence development of MND in mice.” https://www.ncbi.nlm.nih.gov/pmc... In humans? ALS in particular?
“A study released in 2005 found that Italian professional soccer players got the disease at a rate nearly six times greater than the general population. The study did not identify a specific cause, but it raised the question of whether players repeatedly heading the ball might make them more susceptible. Even so, Dr. Santosh Kesari, chairman of Neurosciences and Neurotherapeutics at the pacific neeuroscince Institute in Santa Monica, remained cautious about drawing a straight line between the head trauma of football and ALS.” Suspected link between ALS and head trauma suffered in football
Also confounding all this is that brain injury can look a lot like ALS. Chronic traumatic encepahlopathy (CTE) arises from repeated head injuries. In the US ALS is known as Lou Gehrig Disease. There is question about whether Gehrig had ALS. His particular history as a athlete would put his at risk for CTE. As he has been cremated we will never know. At present CTE is only diagnosed by autopsy. Can Football Cause ALS? A Look at the Research
ALS is a puzzle, and causes have not been clearly identified. Whether a cause of ALS or not, we do know that traumatic brain injury is best avoided.
12/6/2017


Why does ventilator-associated pneumonia usually affect people that are at the intensive care unit?
A ventilator-associated pneumonia is one that developed in a patient using a ventilator. As most ventilators are used in an intensive care unit, that is where the pneumonias develop.
Some stable patients use ventilators in nursing facilities or at home. These patients are less susceptible to pneumonia. I have ALS, and I use a ventilator. With assist I can get out of bed. Even now I am sitting at a desk using a computer. Despite a ventilator, I am much less likely to get pneumonia than someone on a ventilator so sick that he must be in ICU.
12/1/2017


How can the common neurodegenerative diseases (ALS, Parkinson's, Alzheimer's) be explained in the light of the recently discovered brain-lymphatic-system?
I am thrilled to see the ALS is becoming better known. Thankfully it is not a common neurodegenerative disease. In the US there are 5,500,000 with Alzheimer’s type dementia. There are 1,000,000 with Parkinson’s. There are “only” 16,000 with ALS.
ALS is not a brain disease. It is a disease of upper motor neurons and lower motor neurons. The first carry signals from the brain to the spinal cord, and the second carry signals from the spinal cord to the muscles.
The concern that deficient protein clearance from the brain plays a role in Alzheimer’s was reported in 2010, if not earlier. "For years scientists believed that it was the overproduction of beta-amyloid that led to its accumulation in the brain. These new findings shift the emphasis to clearance of beta-amyloid. This may lead to development of a diagnostic test as well as identification of new therapeutic targets." Alzheimer’s Disease May Stem from Protein Clearance Problem
A more recent study published online Oct 3, 2017 establishes lymphatic drainage from the brain, and it raises the possibility that impairment of lymphatic drainage might play a role in Alzheimer’s, but that has not yet been established. Brain cleaning system uses lymphatic vessels
An earlier study published August 2015 reported the identification of brain lymphatics by two research labs. The authors raised the following: “For example, would removal of amyloid β and other misfolded proteins from the brain parenchyma be reduced in mice with an impaired meningeal lymphatic system (e.g., following removal of the dcLN or in VEGFR3-deficient mice)? Do meningeal lymphatic defects correlate with or cause enhanced risk of patients developing neurodegenerative diseases such as Alzheimer's and Parkinson's disease?” New Brain Lymphatic Vessels Drain Old Concepts We are moving toward answering those questions, but we are not there yet.
11/29/2017
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Can we suck out the mucus/phlegm from the airway of a Pulmonary Fibrosis patient, by inserting a thin plastic attached to a portable vacuum cleaner instead of the pounding machines, nebulizers, etc.?
Intermittent suctioning has a role in CF care. The suction tube cannot be pushed down into the lungs as it would likely cause damage on the path in. It can be used for the uppermost part of the airway. It will not replace all of the other treatment. Most people with CF need a mix of interventions.
Due to ALS I cannot clear lung mucus. I use a Cough Assist with some benefit. This has been found useful in CF. 167 Evaluation of the oscillatory Cough Assist E70 in adults with cystic fibrosis (CF).
11/21/2017
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What are the odds of inheriting ALS from my father?
The answer is not simple. The general rule of thumb is that 5 to 10 percent of ALS cases are inherited. There are three patterns of inheritance, and there is variable penetrance. Different genetic variations of ALS exist. It may be that what we call ALS is really a cluster of diseases.
Autosomal dominant inheritance is the most common. If you father has inherited ALS with this form of inheritance, then you have a 50/50 chance of getting that gene and getting ALS. Except that some people with the genes for ALS don’t seem to get the disease due to reduced penetrance.
Autosomal recessive inheritance is much less common. In this form both parents must contribute the gene. As each parent is expected to have only one abnormal gene, the parents do not have the disease. It would be possible for your father to have paired abnormal genes having gotten one from each parent and hence having the disease. If he had that, and you mother had a single copy of the disease, you would have a 50/50 chance. For this, both paternal grandparents would have to have the gene.
Rarely ALS is due to a gene on the x-chromosome. If your father had this, he could pass it on to his daughter, but he could not pass it on to his son.
Given that the rule of thumb is so broad, the details of pattern of inheritance can reasonably be lumped together. There is a 5–10% chance that your father had inherited ALS. Your risk is half that; there is a 2.5 to 5% chance that your father’s ALS will be passed to you.
One gene abnormality, SOD-1, has available genetic testing. It takes a few months to get the results and costs a few hundred dollars. This is part of an autosomal dominant pattern of inheritance. It is found in 2% of persons with ALS.
With your father’s permission, learn what you can from his neurologist about testing already completed and about family history. Good knowledge of family history can help refine the estimate of your risk. Luckily for me there was no family history of ALS, so I never fretted about this disease until I was diagnosed.
11/1/2017

What should you do if you have a rare condition and the Doctor has no solutions?
I have reviewed the three responses and find value in them, but I have concerns about tone. I fit in that I have a rare condition for which no doctor has a solution. I have ALS (amyotrophic lateral sclerosis). I think I am doing what I should.

I am writing about the condition raising awareness of it.

I am using the medication that can get me a few months of added life.

I am active in a face-to-face support group through the ALS Association.

I am active in an online support group, Patients Like Me.

I have reviewed a lot of the medical literature sometimes knowing more about some aspects of ALS than my treating physicians.

I have tried to be kind to myself and to family and friends who are helping me.

With family and friends I have set up my individual care community based on the Lotsa Helping Hands model - just last night Eva brought over a casserole as part of this support group focused on me.

I am active in face-to-face seminars and in webinars about new research and support for those with ALS.

I have traveled to participate in research on ALS.

I monitor open clinical trials seeking those for which I am qualified that are close enough for my participation.
10/30/2017

Has anyone ever been healed of ALS?
Ted Hamada reportedly was cured by neural stem cell injection at Emory University in Atlanta. The other 11 patients in the trial did not see improvement. Six clinical trials are ongoing at Emory with none beyond a stage 1. Sadly Hamada has died of brain cancer.
10/27/2017

Is Chinese Restaurant Syndrome similar to Cyanide Poisoning; could it's sensitivity be a precursor to ALS susceptibility?
A2A. There does not appear to be any connection between Chinese Restaurant Syndrome and cyanide poisoning. Neither is thought to be a risk factor for, cause of, or precursor to ALS.
“CRS” is a cluster of symptoms that have been associated with eating Chinese food: flushing, headache, numbness, chest pain, and sweats. It was in the past blamed on MSG (monosodium glutamate), a flavor enhancer. MSG is made by fermentation of sugar or molasses. It is the salt form of the amino acid glutamic acid. It is used in many cultures and is sold in the US as Accent.

In small amounts our bodies break down cyanide, and it passes in our urine. In larger amounts it blocks the use of oxygen by muscles. Evidence of poisoning is seen in seconds to minutes.

There has been some population research regarding exposure to Cyanobacteria as a cause or trigger for ALS. Efforts to connect proteins from Cyanobacteria in the diet as a trigger for ALS have not been successful. A mechanism for how the protein BMAA could do this is also lacking. BMAA given to another primate has led to muscle weakness, but it was not through the death of motor neurons as is seen in ALS.
It is likely that ALS is not a single disease. As that gets sorted out, finding the causes may become easier. For now prevention and cure options do not exist. We use supportive care along with largely ineffective medication to slow the progression of the disease. In GB ALS is called motor neuron disease.
10/26/2017

What is atrophy? How does it affect PALS (persons with ALS)?
Atrophy is wasting away. In ALS (amyotrophic lateral sclerosis), the nerves from the brain to the muscles die. Without nerve stimulation the muscles die bit by bit. This leads to progressive muscle loss and weakness. Some have onset in the arms and legs. Some have onset in the mouth and swallowing muscles. A small number have onset in the breathing muscles. Ultimately almost all die of respiratory failure. I have read that in Japan 90% opt for a tracheostomy and invasive ventilation. In the US only a few percent opt for this. The difference appears to be driven by money; Americans cannot afford to pay for the care required with invasive ventilation.

Personally I was diagnosed less then than 18 months ago. Since then I have had to stop clinical work as a physician and as a medical director for a nursing home. I cannot walk over about 20 meters. As I sit here I am on a ventilator with a mask. I had a massage earlier, and due to weakness, I needed help to reposition on the massage table. I often need help to get out of bed, dress, and bathe. My weight is down below what I weighed in high school in the 1960s. Now weight is 142 pounds (65 kg) at 73 inches (1.85 m). Eating tires me, chewing is less effective, and like many with ALS I must be careful about choking.

So ALS is atrophy or wasting of muscles thanks to the death of nerves. In GB it goes by motor neuron disease.
10/26/2017

Why does an ALS patient’s speech get slurred/slowed? Is it because of atrophy?
I thank the two others who have responded. There is more to the answer as Eric suggested in his answer. He has lived with this condition far longer than I have.

There are four components to the poor speech seen in people with ALS, and these are set out by Jordan Green, et al. in Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec; 14(7-8): 494–500 published online 2013 Jul 30. doi: 10.3109/21678421.2013.817585. ALS affects the respiratory subsystem, the phonatory subsystem, the resonatory subsystem, and the articulatory subsytem.

So far my speech has been chiefly affected by the respiratory subsytem. Due to weakness of breathing muscles I cannot move enough air. My voice is soft and somewhat breathy. To get volume and resonance I must breathe deeply and “shout”. I must fragment each sentence into 2–3 word chunks in order for it to be heard. If I am wearing CPAP or other noninvasive ventilatory support with a face mask, I cannot be heard.

The phonatory subsystem generates the vibrations or tones in the air that get modified into words. This depends on muscles keeping tension on the vocal cords. The volume of air and the pressure of air passing over the cords alters the sound. In PALS (persons with ALS) failure here shows up as high or low pitch, limited range of pitch, and a high noise to signal ratio - the intended sounds are lost in the garbage, background noises being made.

The resonatory subsystem enhances the quality of the sounds made by the vocal cords. Weakness of the velopharyngeal muscle leads to sounds moving into the nose. This makes the quality hypernasal, with articulated sounds consequently being weaker and less clear.

The articulatary subsystem is made up of tongue, jaw and lips. These modify the sounds on their way out. With ALS the very fine muscle movements become smaller in degree of movement, slower and longer lasting. This produces slurring. ALS appears to affect fast-twitch muscles more. This slurring plays into the respiratory problem as it leads to a voluntary slowing of speech as the PALS tries to be clear.

The simple answer is, Yes, it is from atrophy.
10/12/2017

What is it like to be a doctor with ALS?
A2A

Wow! That’s some question. Yes, as advertised I am a physician with ALS, but my physical disabilities have severely limited me. My tale for today will be a blend of how being a physician has affected my understanding and coping with having ALS, combined with how ALS has affected my practice of medicine.

At age 62 I was running a solo medical practice and caring for 80 nursing home residents while also serving in an administrative role as medical director for a nursing home. Due to expanding government regulations, the office was becoming less fun for me and for the others who worked there. I decided to shut down the office in April 2016, and focus on nursing home work thinking that I might do that for another five or more years. It would also give me more time to care for our 100 acre farm and the Lippitt Morgan horses that I bred, trained, and rode. Finding myself with some leisure time, I went to see my family physician about muscle aches, cramps and weakness. Initial evaluation matched my self diagnosis, i.e. it was unclear what the diagnosis was. On referral by my doctor I went to see a neurologist who spent hours with me. On hearing that it was likely ALS (amyotrophic lateral sclerosis or motor neuron disease) but could be some other things, my wife turned to me asking, “So, are we supposed to hope it’s cancer?” This was similar to the assessment I have since seen expressed by nother Quoran, Eric Valor who wrote, “[T]he only remaining diagnosis was ALS. I was hoping for cancer, even HIV, as those conditions have treatments.”

My neurologist remarked that over the years physicians had come to her as patients thinking that they had ALS. Here I was her first physician patient with ALS, and I had not come with that as a self-diagnosis. I had considered it, but based on my ignorance about ALS, I felt that it did not fit me.

In part due to my experience as a physician, and in part due to who I have always been, the diagnosis was easy for me to accept. There was never any real question about what I could have done differently that would have kept me from getting ALS. With HIV infection, there would have been some self blame. My wife and I began to plan out our remaining life together. I do not have a bucket list; I enjoy doing medicine; and, really, I was irreplaceable as a physician in my community. I set out to continue as I had been prior to diagnosis. I shared information about my medical status with key players at the nursing home.

A few months later it was hard to lift paperwork to the chest high bins on the walls, so these were lowered for me. Shortly thereafter I had three falls at home within one week. I got a walker. I visited patients with the walker, and others helped me by filing charts that I could no longer lift. This note is done with a computer keyboard, but some medical charting had to be done by hand. Often I would have to set aside a death certificate for completion by hand with the expectation that hand function would improve later in the morning. I stopped providing emergent care such as suturing lacerations or packing nosebleeds because my hands were not reliable. I had provided notice that by April 2017, I would have to stop clinical care. My neurologist was quite surprised that I hung on for so long. I thought that I would continue in my less taxing administrative role as medical director, but the funds for that position were needed to induce a new physician to come on board to provide clinical services. In April 2017, I was disabled by ALS from work as a physician.

In learning about my disease, and in acquiring information to help me make care decisions for myself, I have done a lot of online research. I have written up some of this to share with physicians involved in my care. Apart from being practical, this is an enjoyable activity. It has provided information to share with both researchers and patients dealing with ALS.

Somehow a Quora Q&A about an object falling from space to earth appeared on my computer screen. I was impressed by the answer, and I shared it with my daughter who has degrees in physics. I got sucked into Quora. In the past I was a contributor to Medipedia. Years ago I had also done some formal online responses to medical queries. Now I spend a lot of time on Quora, mostly answering questions focused on medicine and healthcare, pharmacy, and doctors. I often insert remarks about ALS in my Quora answers to raise awareness about this disease. I think that will do more than an ice bucket pasting on Facebook.

Trying not to be too verbose, that, Sophie Grear, is what it is like to be a doctor with ALS.
10/8/2017

Can ALS present only with fasciculations for months?
I am a person with ALS. I thought I was getting old and out of shape. That belief delayed my diagnosis. The onset is very varied and often very subtle. ALS can present with only fasciculations. That said, fasciculations do not mean ALS.

It sounds as if this is a new issue for you, but it has become persistent. Get an evaluation done so that you can rest easy. If you are found to have ALS, connect with others to learn to live with this.
9/28/2017

Has any social campaign in history been more successful than ALS Ice Bucket challenge?
It is hard to compare them, but March of Dimes has also been very successful for 75 years. “Entering the 1950s, the 3,100 chapters of the NFIP operated almost completely by volunteers who proved that the March of Dimes was a grass-roots movement, captured nicely in the ubiquitous slogan “Join the March of Dimes.”” A Fighting Chance For Every Baby
9/25/2017

Who need a Speech Generating Device for ALS patients?
Some members of my ALS support group use these. At present I can still talk almost well enough to communicate. A lot of broken sentences and repetition are needed for me to effectively communicate. Contact your local ALS Association or message me so we can find someone who needs this now.
9/15/2017

Why do people with ALS survive for more than five years?
I endorse K Kerl’s response. Yes, 20% live longer than 5 years. Some of endurance may be the genetic and the personal fortitude of the people. There is also a big group of diseases lumped together as ALS. 5–10% of PALS (persons with ALS) have a genetic component, although there appear to be multiple genetic factors. Some have bulbar onset, and some have spinal onset. Some appear to have only lower motor neuron disease (progressive muscle atrophy). Some appear to have only upper motor neuron disease (primary lateral sclerosis). The speed of these variants is not the same. Even within one variant there are marked differences.

The main cause of death is respiratory failure. As more people opt to use a ventilator, life expectancy is rising. I expect mine to be delivered next week.
9/22/2107

Do you support ALS awareness?
Yes, I do. I make reference to it often in my Quora answers. It is on my website. I also strongly support my local ALSAssociation group. They have been wonderful to work with, including staff, and fellow persons with ALS, and their caregivers.
9/15/2017

In cases of ALS, and other cases affecting respiratory muscles, is it possible to make transcutaneous electrical stimulation?
In ALS clinical trials of using a diaphragm pacemaker over the past few years surprisingly led to death sooner than the control group, and its use is not currently recommended. Second Trial of Diaphragm Pacing for ALS Shuts Down Diaphragm pacing in patients with amyotrophic lateral sclerosis

it has been 20 years, but research has been done on thoracic nerve stimulation to let someone have a vigorous cough after nerve damage. Simulation of Cough in Man by Magnetic Stimulation of the Thoracic Nerve Roots

Pacing is being done for central sleep apnea and spinal cord paralysis, but that is not transcutaneous. Indications and Contraindications
9/15/2017

What are the chances of a 17 year old being diagnosed with ALS?
“Young onset” ALS means before age 45. To have ALS at age 17 would be extraordinary. I was diagnosed at age 63.
9/13/2017

What are the natural remedies for amytorpic lateral sclerosis?
I have ALS. One drug has been shown to extend life by about 3 months (riluzole). The new drug approved in May 2017 (edaravone) does not improved breathing, and this is the chief mechanism of death in ALS. There are no other prescription or natural remedies demonstrated to be effective in slowing or stopping this illness. Much research is being done. Check out ALS Untangled and Patients Like Me and the ALS Research News Archive to look at what has been tried and what is being tried.
9/11/2017

What are the symptoms of Amyotrophic Lateral Sclerosis (ALS)?
The text that follows is from the ALS Association website - link is below.

“Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, people may lose the ability to speak, eat, move and breathe. The motor nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle control. Examples of voluntary movements are making the effort to reach for a smart phone or step off a curb. These actions are controlled by the muscles in the arms and legs.

“The rate at which ALS progresses can be quite variable from one person to another. Although the mean survival time with ALS is three…, many people live five, 10 or more years. Symptoms can begin in the muscles that control speech and swallowing or in the hands, arms, legs or feet. Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. However, progressive muscle weakness and paralysis are universally experienced.
“Gradual onset, painless, progressive muscle weakness is the most common initial symptom in ALS. Other early symptoms vary but can include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches, and/or uncontrollable periods of laughing or crying.

“When the breathing muscles become affected, ultimately, people with the disease will need permanent ventilatory support to assist with breathing.”

Symptoms and Diagnosis
8/30/2017

What is the Motor Neuron Disease (ALS)?
As a physician I would have been unable to answer this before June 2016, but since I was diagnosed then, I have learned a lot.

ALS (amyotrophic lateral sclerosis) is a variety of MND. While 10 percent of cases of ALS have a genetic component, most are spontaneous. It is not a brain disease. In ALS both upper and lower motor neurons die. Motor neurons carry signal to the muscles. Upper refers to the neuron from the brain to the spinal cord. Lower refers to the nerve from the spinal cord to the muscle.

There are many presentations, and indeed it may be many diseases lumped together. Primary Lateral Sclerosis is disease limited to upper motor neurons, while Progressive Muscular Atrophy is limited to lower motor neurons. At autopsy many clinically diagnosed with PMA are found to have ALS.

In all forms there is ongoing development of muscle weakness. As the nerves die, the muscles die. It is typically a short illness. From diagnosis half are dead in 3 years and 80 percent are dead in 5 years. The principal cause of death is respiratory failure.

Treatment options include an old medicine, riluzole, now in use over 20 years and reported to add 3 months to lifspan. The other medication, approved in the US in May 2017 should be available this month (Aug 2017), but cost is $145,000 per year, and many insurers are not paying for it, or they are limiting its use to a subgroup. It is edaravone, and it is given by IV 10 days of each month.

Support options are braces, lifts, wheelchairs, feeding tubes, ventilators, eye gaze devices to control computers, voice synthesizers. This list tells some of what patients experience. The essential support is provided by caregivers.

The cause and mechanism of the disease are not known. As above there is a genetic component in a small number. Age is the clearest risk factor with onset most often at 55–65. In the US military service is a risk factor, but this is not so in France. Up to age 70 men are more like to develop ALS, but then the likelihood becomes equal regardless of gender. Per 100,000 persons of population two develop ALS each year.
8/18/2017

Does muscle twitching mean ALS?
ALS is an uncommon disease that I happen to have. Muscle twitching or fasiculations are common in ALS. They are also seen with low magnesium, muscle overuse, and as a medication side effect. Caffeine and nicotine can play a role. Even when twitching is from a neuromuscular illness, it can be something less serious such as benign fasiculation syndrome.

If this is bothersome and persists, see your family doctor.
8/4/2017