ALS: my story

I’ve been meaning to write about this for a while.  While this blog has focused on my Autistic child, at its core, it has been a tool for me to process my emotions about my son’s autism and my own parenting journey with him.  But my ALS diagnosis has eclipsed just about everything else in my life, autism journey included.  Lately I have been feeling the urge to write out my story, my feelings, my reflections, my fears.  So I am going to do it here and I guess this blog won’t just be about autism or about my son anymore.  Maybe it is better for it to evolve into something that captures more of me and my family than just the autism facet.  So here goes.

Let me begin by saying I did not have ALS remotely on my radar until January 23rd, 2017.  I was given my first diagnosis of Motor Neuron Disease (which is the family of diseases ALS belongs to) on March 3rd, just five weeks later.  Three weeks after that I received my official ALS diagnosis.  So I went from having no clue about ALS to being diagnosed with it in a matter of weeks.  But the first signs of the disease,  though I didn’t recognize them as such, began over a year prior.  My best estimate as to the start of the first symptoms is 15 months prior to diagnosis, around December 2015.

I should also preface with a brief explanation of what ALS is.  Prior to learning I might have it, the only thing I knew about it was that it was what Stephen Hawking has.  I knew it caused him to be paralyzed and use a high tech eye-gaze AAC to communicate.  Because my own child is non-speaking, I’m very pro-AAC, and so my overall impression of ALS was “they use an awesome type of AAC, how cool is that.”  Stephen Hawking is so old and has had ALS for decades, so it never occurred to me that it was a terminal illness.  Hawking, as it turns out, is the longest lived person with ALS, defying the harrowing statistic that 90% of individuals with ALS die within 3-5 years of diagnosis.

ALS, which stands for Amyotrophic Lateral Sclerosis, is a neuromuscular disease affecting the skeletal muscles.  The brain is no longer able to communicate with the muscles, resulting in progressive weakness leading to total paralysis.  This leaves a person unable to move, speak, or eat by mouth.  Eventually it can affect the breathing muscles, resulting in respiratory failure.

It all started with weird muscle cramps.  I say weird because they occurred in unusual muscles, like my tongue and individual fingers, but were notably absent in muscles you expect to have cramp, like your legs.  When I asked my doctor about it she was completely unconcerned and suggested I was dehydrated.  I remember thinking “Shouldn’t that give me a charlie horse, not a tongue cramp?  Who knew your tongue even could cramp?!”

Around the same time I began experiencing bouts of uncontrollable, inappropriate laughter.  It was very embarrassing and I worried that there was something psychologically wrong with me.  I wondered if I was having stress-induced hysteria, and wondered if it meant this was some kind of breakdown.  I also remember thinking it really reminded me of my grandfather after his stroke- he would cry or laugh inappropriately in the same kind of way it was happening to me.  I later learned that there was nothing “wrong” with me, not mentally anyway, and this was another neurological symptom associated with ALS and other neurological problems or disorders.  It is called Pseudobulbar Affect (PBA) or Emotional Liability.  So it turns out I  was right to see the resemblance between what was happening to me and what I’d witnessed after my grandfather’s stroke.  About 50% of people who have suffered a stroke will experience PBA, and I now see that my grandfather must have been one of them.

In the spring of 2016 I had a bad case of the flu.  After I got better, a nasal, congested sounding voice remained.  But I was no longer congested.  Weeks passed and it still remained.  I did have some other sinus symptoms, like a constant postnasal drip, and a strange inability to close off my sense of smell without manually pinching my nostrils closed.  I thought I had some kind of deep congestion, back behind my nose since I knew my nose was clear.  It lasted so long that I thought it must be a sinus infection.  I went to my PCP who looked in my nose and blew me off completely declaring there was nothing wrong.  Since my insurance doesn’t require referrals, I then went straight to an ENT.  The ENT scoped me and found no visible infection, but did see the abnormal degree of postnasal drip and some inflammation.  He prescribed a round of antibiotics and steroids.  This failed to change anything and a second round was offered.  After that they did a CT scan.  I eventually had a small, endoscopic surgical procedure to help my sinuses drain more efficiently.  None of this changed the symptoms I was having.  These symptoms would all turn out to be caused by muscle weakness compromising the structures in my ear-nose-and-throat area.  I was embarrassed by my nasal voice and always told people I was getting over a cold or allergies, even though it wasn’t true.  Along with these speech and sinus issues, I also noticed I was choking on liquids and saliva a lot more than normal.  It seemed like such an odd, random thing, that I never even mentioned it to my doctor.

At the same time as my voice/speech changes and sinus issues, I noticed weakness in my left hand, which is my dominant hand.  I was taking sign language classes and noticed I could no longer form many signs, especially fingerspelling.  I also noticed that I was having trouble with my pincer grasp, and found it hard to open packaging, unscrew tops, and compress buttons.  I continued to have frequent muscle cramps in the fingers and thumb of that hand, often brought on by attempts to use those muscles.  Though I connected these cramps to the hand weakness, at the time I didn’t connect the tongue and jaw cramps to my speech and sinus issues.  It didn’t occur to me whatsoever that the speech and sinus stuff could remotely be related to my hand weakness.  The hand weakness was worsening at a very gradual rate, and was not painful, and for those reasons I largely dismissed it.  When I went for my annual well visit with my PCP that summer, the doctor was startled by my brisk reflexes.  I had never heard that before but quickly forgot about it.  By late fall/early winter my hand weakness was still persisting and progressing, though still painless.  I actually told my husband, very worriedly, that I thought it might be something neurological.  He suggested it could be a pinched nerve.  I went to my PCP about it and she examined it for signs of carpel tunnel, which she said there was no evidence of.  She seemed very unconcerned and suggested it might be tendonitis.  She told me if it didn’t resolve in a few more weeks to call the Orthopedic Hand Clinic for an appointment.

In late January of 2017 I finally got around to going in to the Hand Clinic.  They examined my hand thoroughly and did many types of strength tests on the hand and fingers.  They took x-rays.  They asked me repeatedly if I had any pain or numbness (no to both every time).  At the end, the doctor told me he was pretty sure there was a neurological problem, and that he was ordering an EMG to rule out a pinched nerve or other problem originating in the hand or arm as opposed to the brain.

The EMG was scheduled for just a few days later.  I spent a lot of time googling now that I knew I most likely had a neurological problem.  I randomly came across ALS and saw the early symptoms list.  I remember that moment so clearly.  I was standing in line at Staples, bored and searching on my phone.  I scanned the list– painless, progressive weakness, slurred speech, nasal voice, difficulty swallowing, muscle cramps, muscle twitching, inappropriate laughter or crying, hyper reflexes, spasticity…  When I saw that list I was overwhelmed with recognition, with this soul-deep knowing.  It was exactly how I felt the first time I came across a list of early signs of autism.  Autism had not been on my radar at all and I had known very little about it.  But the very first time I came across an early signs list while searching to understand R’s atypical development, there was an instant, deep knowing that this was IT.  As I stood in the Staples line and scrolled down to read more, I read that “ALS is universally fatal…there is no cure for ALS.” I felt my stomach drop, and when it came back it was filled with lead.  I remember turning my screen off and putting my phone away and thinking there was no way.  Reminding myself that Dr. Google is notorious for making it seem like your mundane minor symptoms might secretly be a rare and deadly disease.  But a small voice told me that I wasn’t one of those people.  I’m a damn good googler and I couldn’t think of a time when I had mistakenly thought my or my child’s symptoms sounded like they were something this serious.  And I had been googling about my hand weakness only, I had not thought to connect my speech and swallow symptoms to the hand weakness, the ALS page provided that connection, which made it seem more eerily true.

By the time I went in for my hand EMG I had read enough about ALS to know that it was:
1) rare in people under age 40 (mean age of diagnosis is 55)
2) more common in men
3) notoriously hard to diagnose due to mimic diseases and the fact that there is no single “test” that will show it

This information gave me a measure of relief.  Statistically it was so unlikely for a woman my age (31 years old) to get ALS.  It was more likely that a different cause for my symptoms would be discovered.  So I went in for my EMG feeling cautiously optimistic.

When I arrived, the doctor, a neurophysiologist, began asking me about my hand weakness, which I described and showed him.  He examined my hand and then did a quick neurological exam, commenting on my hyper reflexes.  He then began flicking my fingers.  Whatever he saw concerned him, and he flicked them several times more.  I later learned that he was observing that I had Hoffman reflex, an abnormal reflex not usually present in healthy adults.  This, like the hyperreflexia, can be a sign of upper motor neuron degeneration in ALS.  He then performed the EMG and NCV on my hand and arm.  He said that he saw abnormalities and that whatever was wrong was definitely neurological and not in the arm or hand itself.  He then asked about my voice and speech and I told him about my other symptoms.  Though I pressed him, he refused to speculate as to a diagnosis, but told me he was ordering an MRI of the brain and neck and would have them rush it so we could get answers more quickly.

When I got home I did some more research online and discovered that if my MRI was clear, ALS was still on the table, but that if my MRI showed any lesions I might have Multiple Sclerosis or something else, and ALS would be unlikely at that point.

My MRI was clear, but the neurophysiologist referred me to a neurologist specializing in MS anyway.  The neurologist did a comprehensive neurological exam and medical history.  She showed me that I had atrophy (muscle wasting/shrinkage) of my thumb muscle.  She examined my tongue and immediately called over her resident to show her my tongue fasiculations (muscle twitching that occurs in ALS).  At the end she told me that she was concerned that I may have a Motor Neuron Disease like ALS.  She told me she was ordering a more comprehensive EMG, lots of bloodwork, and referring me to the Neuromuscular Clinic.

The comprehensive EMG appointment took 4 hours.  I had continued to do research online leading up to this appointment, so going in, I already knew a few things.  The appointment, like my hand EMG, would consist of two parts, the Nerve Conduction Study, and the needle EMG (electromyography).  In ALS, the NCV portion is usually normal, and it is the needle EMG where abnormalities would show up.  For the NCV the doctor places electrodes over the muscles being tested and sends brief bursts of electricity into the muscle.  The electric conduction is then measured in terms of velocity.  So basically the doctor shocks you over and over.  Fun times, but the fun doesn’t stop there.  Part two, the needle EMG, involves the doctor inserting a needle into the muscle which takes data both while the muscle is still and then again while you flex it.  This is repeated for each muscle being tested.  For me, they did my thumb, two or three arm spots, two lower leg spots, one upper leg spot, two spots on my back, and my tongue.  Everyone I’ve told about this thinks tongue must have been the worst, but to be honest, thumb was the most painful, closely followed by one of the upper arm muscles they did.  The doctor who did the test was a Neuromuscular Neurologist.  She also did a neurological exam and had me repeat the whole story about my symptoms, my previous doctors and tests, and medical history.  At the end of everything she told me that the most likely diagnosis based on my exams and the EMG was ALS.  She gave me a provisional diagnosis of Motor Neuron Disease, ordered more bloodwork, ordered breathing tests, started me on an ALS medication (Riluzole), and referred me to the ALS Clinic for an official evaluation and diagnosis.  This was March 3rd, 2017, and it was my initial diagnosis day.

Three weeks later, On March 24th, 2017, I had my first visit to the ALS Clinic.  It was a 5 hour visit.  I was seen by a Pulmonologist experienced with ALS, and a Neurologist specializing in ALS, as well as several other related clinicians that collaborate at the Clinic.  Extensive neurological testing and strength testing were performed, and I was interviewed at length about everything.  Finally the neurologist told me that I did indeed have ALS.  She told me I was considered bulbar-onset (meaning onset in the speech and swallow region).  She told me that while most patients live 3-5 years after diagnosis, for bulbar-onset patients the average is usually about 2 years.  She was extremely thorough, she provided me with tons of resources, medication to treat my PBA, referrals for a 2nd opinion, a swallow study, and an OT evaluation.  She even called me at 8pm that same night to make sure I had the correct referral information for my swallow study.  She was doing all the right things.  But when my husband and I talked about it later, we both confessed we didn’t like her.  When I shared this with a friend I had made online- another woman living with ALS who was also in my state (thank God for the internet right?), she gently suggested that perhaps we were struggling with our feelings about her telling us those statistics (2 years for bulbar onset ALS).  I realized she was right.  I was angry about the doctor saying that.  I felt the doctor should have slanted it positively- should have pointed out that 10% of people with ALS do live longer than 5 years post-diagnosis.  That I could be in that 10%.  I realized it didn’t make sense to reject the doctor because she told me the stats straight up.  I’m better off with her than someone who tells me things in nicer terms but is less competent.  As an aside, I’ve seen her several times since then and I really like her now.  She is an excellent doctor and is kind and compassionate.  I guess it’s just hard to like someone in the initial aftermath of being told such devastating information.

On April 11th, 2017 we went for my 2nd opinion at the MGH ALS Clinic in Boston.  This was technically a 3rd opinion since I’d had my first diagnosis with the neuromuscular neurologist before being referred to the ALS Clinic.  With ALS the standard is to always get a second opinion with an ALS specialist.  This is because it is a hard disease to definitively diagnose and it is such a serious diagnosis that you need to be absolutely certain.  The 2nd opinion appointment was anticlimactic.  The neurologist had reviewed my file already (my file had been sent over ahead of time).  She listened to my story and did a neurological exam and strength tests.  That took about 20 minutes and then she informed us that she agreed with the diagnosis and that I did indeed have ALS.  She went on to discuss research with us- upcoming clinical trials, a new drug about to receive FDA approval (it has since been approved- the first new ALS treatment to receive FDA approval in 2 decades).  She projected an attitude of hope which I appreciated.  We went home.  The diagnosis process was officially over.

I think I’ll save my reactions to all of this for my next post.  I will say my reactions continue to change between states of shock, denial, disbelief, sadness, anger, numbness, neutrality, and hope.  Sometimes several of those at once.  It has been four months since my initial diagnosis, and I still don’t think it has 100% sank in.  But this post is long enough, so I will end here for now.

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