Colliding Worlds

Sometimes my son’s disability and mine meet in a strange and gravely beautiful way.  I hear him vocalize and I think my sweet boy is gaining his voice while I am losing mine.  There is something poetic about it.  I know rationally that the two events have nothing to do with one another.  But I would gladly give him my voice, go silent forever so that he could speak.  Sometimes it feels like that’s what’s happening.  A precious exchange.  Perhaps that is just a notion my psyche has conjured to protect itself from the horrors that await me with this disease.  If I can fantasize some purpose to my loss, some meaning to it, it won’t frighten me so terribly.

I cannot pick my boy up anymore.  It’s been months now that I cannot lift him.  R does not use any functional speech but communicates in a secret body language with us.  He grabs our arms and places them around his hips, pulls and lifts on his toes in a silent but clear request to be picked up.  When he asks me to hold him I call my husband, and my husband lifts his weight while I hold him in my arms in a pantomime of how I would hold him before I got sick.  I have often wondered if he realizes I can’t lift him, or if he thinks we are just behaving strangely.

A few days ago I sat on the grass watching him play with his dad.  He suddenly ran to me, pulled me to my feet, and positioned me as if to say “don’t move.”  He then ran to his dad, hand led him to me, and then requested I lift him while placing his dad’s hand on himself from behind.  It was clear he did indeed understand that we needed dad’s help for me to hold him.  He effortlessly puppeteered us into position for me to pick him up with my husband lifting his weight.  We did, and he lay his head on my shoulder and melted into me.  The intensity of my emotions hit me like a ton of bricks.  I had forgotten how it felt to truly feel the weight of his form against me, his body soft and warm, the smell of his hair and skin.  We’ve done this before but never so absolutely.  This time he gave himself completely to our strange hug and it felt like before, like when I could truly stand and hold him in my arms.  He lifted his head from my shoulder and stared deeply into my eyes while clutching my shirt in his little fist.  This kind of eye contact is so rare and when I get it from him it feels like the most precious priceless gift.  Like the clouds have parted and we are bathed in warm angelic light for a few unearthly moments.

Sometimes I worry that R might lose interest in me as my disease progresses.  That if I can’t speak to him at all, if I can’t use my hands and arms to soothe and tickle and hug and hold him, that he will find he no longer needs me.  But moments like R’s request to be held soothe my fears.  I will always be his mother, and our bond can survive this, it can.

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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 in my leg, 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.

Functional Speech

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You might think hearing your nonverbal four year old use a word to request something he wants or needs would be wonderful, exciting, fantastic, or any other number of positive adjectives.  But for me it is almost always heartbreaking and agonizing.  This is because R generally only manages to push the word out for what he needs when he has reached a level of utter agony and desperation. You can see on his face in those moments that he has employed every possible tortured, screaming brain cell in the task of forcing out a single word in a last-ditch effort to make us understand.  Most of the time this happens with the word “cookie,” which may not seem like a desperate situation, but it is.

Reza has a very important night waking ritual, and that is that when he wakes in the middle of the night he eats chocolate chip cookies and drinks some water, and then he goes back to sleep.  He repeats this in the morning when he wakes for the day.  He does this every day, and in the absence of this ritual he essentially has what amounts to a panic attack.  It is extremely mentally painful for him.  We always know what he needs (his cookies), but occasionally we have run out without realizing and it’s 3am and there are no cookies anywhere and he is screaming in pain and terror because the cookies need to be there and they’re not.  He tries every way he knows to tell us what he needs.  He leads me by the hand to the cabinet over and over.  He leads his Dad to the cabinet.  He screams and sobs and violently throws anything we try to offer in place of the missing cookies.  And sometimes, sometimes, in that moment of extreme distress he manages to push the word “cookie” desperately out of his mouth, spending the last of his strength to do so, hoping this might finally cause us to understand his need and to provide it for him.  It tears my heart to pieces because there is nothing I can do and I know his having produced that word at all is a measure of his agony.

Once, something like this happened during the afternoon while his after school therapist and a new BCBA were present.  Later that week we had his annual IEP meeting and the new home BCBA came with.  While we were discussing R’s communication needs she piped up and recounted how she heard him say “cookie” when he was extremely distressed and desperate.  She suggested to the team that we withhold highly preferred items until he gets desperate enough to say the word to request.  My mouth was open to object but R’s special education teacher beat me to it.  “No,” she said, “we’ve learned from working with R that while he can sometimes say a word, he often later loses the word(s) and genuinely cannot produce the word anymore.”  She went on to reiterate the focus on PECS and other nonverbal communication strategies for R.  Have I mentioned how much I love this teacher?  No kid should be tortured into producing speech, let alone when they often legitimately cannot produce that speech no matter how desperate they are.

But of course there ARE times when R occasionally says a word and it fills me with awe, excitement, and pride.  These are times when he echoes a word out of the blue with no apparent intent- usually a word from hid iPad program such as “giraffe” or “strawberry.”  He will say the word to himself over and over in a happy, sing-song cadence with a sweet little grin on his face and it fills up my heart.  When I sing his word back to him his whole face lights up with pleasure and I feel there is nothing more right than this moment.

The take home message from this post?  So-called “functional” speech is clearly not all it’s cracked up to be. 😉

Let There Be PECS

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R using PECS to request a cookie

Recently we have been having some pretty exciting success with PECS!  PECS stands for Picture Exchange Communication System, and it is a picture-based alternative form of communication.

Therapists have been trying to introduce PECS to R ever since he was first diagnosed at 18 months.  They start very simple- introducing just one picture card of a highly preferred item.  Back when they first started trying PECS with R, the card was a screenshot of his favorite Baby Einstein video.  Therapist A would play the video for a few minutes then pause it.  When R fussed for more, therapist B, standing quietly behind him, would take his hand and hand-over-hand have him pull the video card off a velcro strip and hand it to therapist A.  Therapist A would announce “video!” and press play.  The idea was that he would eventually make the connection that his video was played every time he grabbed the video card, and then he would begin grabbing it spontaneously without help or prompting from therapist B.

When we initially tried PECS, this never happened.  A few months later when we tried again and he did progress to grabbing the card himself, but was unable to discriminate between cards, despite the exact-photo images on them.  Meaning that as long as there was only one card on the strip he could and would pull it off.  But as soon as you added a second card option, for example “apple,” he would grab one or both cards indiscriminately.  The idea was to teach him to choose the right one- so if he grabs “apple,” he is given an apple, and if he grabs “video,” his video is played for him.  However, despite exhaustive attempts we were not able to get him to discriminate between cards, and he soon began refusing  to do anything more than grab and mouth the cards.  So we put them away again.  PECS were tried once or twice more and with the same result.  About 6 months ago I asked his therapists to put them away semi-permanently and focus on ASL signs.  While we did see some receptive language success with ASL, R was not able to form signs expressively.

A few weeks ago I noticed that R had learned what “no” means and was showing consistent understanding of the word.  That same week he made faces to himself in the mirror for the first time- a cognitive milestone that typically developing children achieve around 6 months of age, but which R had been missing.  Previously he did not appear to realize that the face in the mirror was his own.  We had seen one or two other cognitive developments recently, and it occurred to me that with these developments maybe it would be a good time to try PECS again.

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R’s current food strip.

We started with food items, since that is such a concrete thing, easy to make exact photo images of, and something which he interacts with multiple times per day.  Every time I brought him something to eat I showed him the card picture of the item.  He only eats the same 3-5 food items, so I kept those 4 or 5 picture cards hanging on a velcro strip next to the kitchen when the cards were not being used.  I noticed him looking at them on the wall throughout the week, and looking at them when I presented them with his food.  After one week of this, R independently went to the strip on the wall and pulled off the “cookie” card to request a cookie spontaneously for the first time!  Over the course of the next week he also spontaneously requested “chicken” and “chips” several times.  He was really doing it!  Watch R request a cookie here.

In our initial excitement over the communication we did allow R to choose “cookie” about 15x per day.  But after a few days it became evident we were going to have to deny him or “cookie” was all he was going to ask for and eat.  At first I tried removing the “cookie” card from his strip at times when it was not going to be an option.  This didn’t quite sit right with me- you wouldn’t remove words from a child’s spoken vocabulary just because the answer is going to be “no”- but I didn’t know what else to do.  This did not help or work however, as R simply searched for the card and then had a tantrum that he couldn’t find it.  It broke my heart because he was working so hard to communicate with us and didn’t understand why he was being ignored/denied.

At a loss of what to do, I reached out to an AAC (alternative augmentative communication) group on Facebook that is home to a number of helpful SLPs.  They all had the same advice- create a “no” symbol that can be imposed over the card so that R can still see the cookie card, but sees the “no” symbol on top, denoting that it is not a choice right now.  I made a clear pocket with the “no” symbol on it, and placed the cookie card in the pocket.

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The “no” pocket.

To further help him understand, I also paired it with the “no” and “all done” cards that his school uses in the classroom, and with which his teacher said he is slowly growing familiar.  At first he was resistant.  He tried to grab the card despite the “no” sign, but I would run his finger over the “no” sign and show him the “no,” “all done” cards and use the ASL sign for “all done” (which he understands) as well.

His next move was to remove the cookie card from the “no” pocket.  My husband greatly appreciated this!  If the pocket made the cookies off limits, surely just removing it from there would make them available again!  We responded by intervening and putting the card back in the “no” pocket and reminding him again that it was “no” and “all done.”  At this point I decided to move “cookie” off the wall strip, and onto a separate sentence strip paired with “no” and “all done.”

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The sentence strip showing “no cookie, all done.”

Then when it was time that he was allowed to choose “cookie,” I brought him over and had him watch as I removed “no” and “all done” and took “cookie” out of the “no” pocket.  I placed the “yes” card down next to the “cookie” card and kept them on the same separate sentence strip.

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The sentence strip showing “yes cookie!”

This arrangement seemed to make more sense to him.  He began checking the strip to see if it said “yes” or “no/all done,” and his attempts to remove the cookie from the “no” pocket reduced dramatically.

As of this morning we are introducing cards for a few non-food items.  For example the strip below is mounted on his spinning chair so he can request to be spun by me or his dad.

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I’m really proud of him and excited that we are slowly getting some communication!  Hopefully we will have more PECS progress to share in a few weeks or months as we continue to work on this.