I wouldn't do that if I were you.

May 8th rolled around and I had another appointment with Dr. Gordon Smith and another Dr. who is there on a fellowship.  These are very impressive people (not just impressive doctors). And very nice people, too.  I've never had doctors spend more time with me on a visit.  And our new friend, Kenya, is still there each time I visit which is actually very comforting.

We did a repeat of all of the physical exam that was performed in February.  Again they asked us to hang around in the afternoon because they wanted to repeat the EMG needle test.  So the bottom line of the May 8th visit is this:

I don't have Kennedy's Disease.  There is a remote possibility that I could have something very rare that has some of the characteristics of Kennedy's, so they sent my blood to some folks who are doing genetic research.  Dr. Smith said that it was highly unlikely that those tests would show anything new.  The results of the EMG needle test and changes in my speech indicate that the condition has progressed since Februrary.  "Progressing" seems like an interesting word to describe a degenerative condition that we are now calling ALS.  The good news is that the progression rate appears to be slow.  They can't really predict life expectancy with any degree of accuracy, but Dr. Smith says that ALS tends to progress in a very linear fashion.  He says that the progression rate that is experienced in early stages typically stays that way through the course of the disease.  The average lifespan of ALS patients is 2 to 5 years after diagnosis.  Some people progress very quickly and don't last a year.  Others go much longer than 5 years.  We are betting that I will be around a lot longer than 5, but there is no way to predict.  This is a wait-and-see, one-day-at-a-time deal.

Kenya and her Hubby

Kenya dropped in after our visit and set another appointment for July 10th, which rolled around very quickly.  This time my youngest son, Joel (Joey) came with Gerrí and me. 

Dr. Smith and another Dr. on a fellowship again checked me out.  These younger doctors on fellowship are getting a lot of great experience working with Dr. Smith and others at the neurology clinic.  Most of these doctors will move to other areas of the country and take the knowledge gained here with them.  Each visit starts with an exam by one of the fellows and is followed by an exam by Dr. Smith.

One of the symptoms/characteristics of ALS is exaggerated "hyper" reflexes.  So the fellow sat down to test the reflexes in my knee.  He sat down directly in front of me, with his legs apart and a little hammer in his hand.  I took a look at my toe, judged its most likely trajectory and said, "I wouldn't do that if I were you."  My reflexes are very "brisk."  Heck, they're down right dangerous.  In my mind, his children and grandchildren were fading from a photo, just like in the movie "Back to the Future."  Well, of course the doctor had plenty of experience and showed me how he positions his hand to prevent damage to his man parts.  So, happily, there is still a family in his future.

The exam this time showed that the progression rate appears to be holding steady.  This time they noticed some weakness in my left leg. Over the month or so leading up to this exam, I had noticed that my legs felt different.  And, walking around the Eccles Broadcast Center at work, I noticed that my walking sounded different.  Now I know why.  The muscles in the leg that lift your toe as you walk have weakened in my left leg.  So, when I walk, especially as the day wears on, my toe drops to the floor causing my shoe to slap the floor.  So as I walk, it sounds kind of like, "step, thump, step, thump," with the thump being my left shoe.  It reminds me of the old horror movies, where the mummy walks like this - "step, drag, step, drag."  So, I'm supposed to pay closer attention to this, because eventually, I may be tripping on my toes.  Apparently, people with ALS fall down more than other folks.  I'm not having that problem yet, knock on wood (tap, tap, tap).

One day, I also realized that I could not put a spring-loaded capo on my guitar with my left hand.  Fortunately I don't use spring-loaded capos very often.  Joey also told Dr. Smith that he notices that my left hand shakes when I play guitar chords in the upper range, where the strings are stiffer and it requires more finger pressure.  (Joey and I play the guitar together almost every Wednesday night.)

So, little changes here and there, but so far, nothing too drastic.  My speech is getting messier, but I was expecting that.  Speaking spanish with our latino friends is now a real chore.  As I type this, I can hear my voice and speech as it was before - but when I open my mouth I hear someone quite different.  One day I called home and Gerrí wasn't there.  The voice mail answered and I heard my old self.  I don't think I'll be erasing that recording any time soon.

Dr. Smith told me that my next visit, in August, would be with a different doctor.  My diagnostic process was evidently behind me and now I would be working with a team of people, led by Dr. Bromberg.  Again, my friend, Kenya, dropped by to set my appointment for August 15th.

Choose wisely!

Waiting for the results of the test for Kennedy's disease wasn't so bad.  On February 28th, Gerrí and I left for Maui and had a very nice time.  We were there almost 3 weeks.  We didn't waste any time worrying or wondering about medical stuff.  I don't think that this new situation made much of a difference in our activities - we pretty much did what we always do, with minor adjustments.

The week of March 19th I made a call to find out if the results were back.  They should have been, but they weren't.  So Mary, the coordinating nurse (another very nice member of the team up at the neurology clinic), had to chase down the lab to find out what was up.  This went on for a week or so, but Mary told me that the results should be there on April X (can't remember the date).  Right after that day I called in and Mary was busy so I asked for my little friend, Kenya.  Kenya confirmed that the results were in and said she could share them with me.  Kenya was very happy to tell me that the DNA test came back negative.  No Kennedy's!  Great news!  Right??  Well . . . .actually no.  That means that I was back to flunking tests for conditions other than ALS - kind of a bummer.

I emailed Dr. Smith asking for clarification and confirmation of the test results.  He answered by email and explained that he was not satisfied with the test results and that he would speak with the lab and probably ask them to run the test a second time.  There are two notable things about what I just wrote.  1)  I have a very busy, nationally renowned neurologist who responds personally to email.  I don't know about you, but I've never had a doctor that responsive, and on a first name basis, too!  2)  Maybe I could have Kennedy's after all.  New hope!

Ian Blue Riley

Now, here is a dilemma to consider.  Nobody wants to get ALS, right?  But Kennedy's is genetic.  It is passed down on the X chromosome like hemophilia.  If I had Kennedy's, that meant that my daughters are carriers and that their sons would have a 50% chance of getting Kennedy's.  So here is a question for you.  Would you take ALS if it meant sparing your grandsons from getting Kennedy's?  I felt a little like Indiana Jones and the Holy Grail - choose wisely!  I was beginning to feel selfish about even hoping for Kennedy's even if it meant a new joke for my conservative neighbors.  So I felt very differently as I waited for the second test results.  First of all, if they know specifically what gene causes Kennedy's, which they do, then you either have the gene or you don't, right?  It should be a simple yes or no.  In my heart, I really believed that the first Kennedy's test result was the real deal.  And, now I was pretty sure that I didn't want to have a genetic disease which I could pass down to my posterity.  I only have one grandchild.  And his name is Ian.

But we did wait, and eventually the second test came back - again, negative for Kennedy's.  Mixed feelings?  Not really.  Dr. Smith said that he still wanted to talk this through.  He said that even though the Kennedy's test was negative, it is a very big coincidence to have a neuromuscular disease and gynecomastia.  Maybe there was still something to that.  He was going to do some more research and we would discuss it at my next appointment.

My next appointment with Dr. Smith was going to be on May 8th. 

You deserve it, you socialist !

So - - What I am trying to do is get this current so that I can just update this as we go.  I'm sure that I will be posting less often once I get this up-to-date.  Besides letting friends and family know what's up, I'm hoping that this account will help others who go through this diagnostic process. Of course, every case is different.  Now, where was I?

While Gerrí and I were waiting for our January 23rd appointment with Dr. Banks, I had my list of possibilities from the Internet, but we didn't discuss it much.  There was no point in speculating or dwelling on the possibilities, so we waited for that appointment.

We met with Dr. Banks who examined me.  Basically the exam consisted of looking at me - like staring at my face, testing my strength, checking my reflexes, having me touch the tip of my nose with my finger, making me walk a straight line, following my eyes, yada yada yada.  It all seemed very routine.  Then Dr. Banks said, "OK, we are going to draw your blood and run a panel of tests to identify or rule out any number of conditions."  Besides the blood tests, she wanted me to do a swallow test.  I asked her what she was looking for.  She listed several conditions, all but one of which were on my own list.  (I missed Myasthenia Gravis.) She then explained that what I was going through for the next little while was a process of elimination.  The blood panel could identify or eliminate almost everything on her list, except ALS.  So, if the tests were to come back negative, she would refer me to the University of Utah Clinical Neurosciences Center, where "all the ALS experts are."  None of this was a surprise to me, but it was weird hearing my list read back to me, and it was the first time Gerrí was faced with all of the possibilities.  So, they took my blood, sent it to the labs, and we waited.

One by one the test results came back negative, eliminating each item on our list.  So, Dr. Banks sent all of the test information up to the U of U along with a referral for me to visit with the Docs up there.  I didn't have an appointment and had no idea when I would get in to see the folks at the U.  But, I work just down the hill from the University Medical Center, so a few days after my test stuff was sent up there, I walked up to the Neurosciences building.  There, I met a very nice young woman named Kenya Arnett.  She is the scheduler for the doctors I needed to see.  At first, it appeared that I would be able to get an appointment pretty quickly, but then she noticed on my records that I needed to get an EMG test (Electromyagram) which consists of a nerve conduction test and a needle EMG test.  This was going to take longer to schedule - like another month or so.  I had a bit of a problem.  (By the way, everyone should have this problem.)  Gerrí and I were leaving for Maui on February 28th.  I told Kenya that it would be a lot easier to go on vacation if this were not hanging over my head.  She obviously understood and told me she would do what she could to get me in sooner.

True to her word, she called me within the next hour and had an appointment all set up for February 7th.  I was so grateful for her extra effort.  It felt like I was getting very close to an answer.

On February 7th, I met with two doctors.  Dr. French, who was on a fellowship at the U, and Dr. Gordon Smith, the attending physician.  Dr. French examined me, doing many of the same things that Dr. Banks had done, plus some other stuff.  He left the exam room, consulted with Dr. Smith, and both of them returned to the exam room.  Dr. Smith repeated much of the exam and then asked if I could spend the afternoon with them.  They wanted to do the  EMG test that same day.

The nerve conduction test is one where they put electrodes on your skin and zap you to measure how fast the nerve signals are traveling to and from the muscles.  That part of test appeared to be normal.

The needle EMG test is interesting.  They place little accupuncture sized needles into your muscle and hook the needles up to a computer that can measure the nerve impulses in your muscles.  Smart neurologists can tell the difference between normal and abnormal nerve impulses.  This is the first test that I aced.  I got an A for Abnormal.

If you are interested, and have no life, you can see what these tests are like here:  http://www.youtube.com/watch?v=k0uSpYd_Ics

After the test, the doctors stepped out to analyze the data and consult with one another.  Upon their return Dr. Smith had a rather odd question for me.  Dr. Smith said, "I don't mean to offend you, but I need to ask this question.  Have you ever had surgery on your breasts?"

Wow - that certainly came out of left field!  But, quite amazingly my answer was, "yes." 

Dr. Smith said they were going to return with a diagnosis of a motor neuron disease, in this case ALS, but they had just enough information from their tests to prompt the question.  It seems that there is a disease that mimics ALS called Kennedy's Disease.  Kennedy's is a hereditary disease.  It is similar to ALS in many ways but it doesn't usually kill the patient, which is a definite plus.  One characteristic of that disease is gynecomastia - or breast tissue that develops in young men at puberty.  This is not an uncommon condition - in fact, if you've ever heard of a boy being teased about "rock tits" he probably had gynecomastia.  In my case, at three different times as an adult I developed small painful lumps on my chest, which were removed surgically.  So anyway, gynecomastia is not good news when you are a teen because idiot teenage boys like to give "titty twisters" to boys with this condition.  But now, in my case this was potentially very VERY good news.  The only way to determine whether or not one has Kennedy's is to do a genetic test.  So they drew some blood and sent it off to a lab.

Gerrí and I left the clinic that day with the understanding that I had a motor neuron disease, but with the very real hope that it would be Kennedy's disease.  I kind of liked the idea of Kennedy's for more than one reason.  I tend to lean to the left of center on many of today's political issues and I was looking forward to telling my very conservative neighbors that I had Kennedy's.  I was sure that they would say, "And you deserve it, too, you socialist!"

Hanging with the guys
back in the day.

The perils of Google

I received my MRI results the week of Thanksgiving, 2011.  The clean MRI showed that I did not have a tumor or any kind of stroke.  Both of those can affect speech so I was feeling pretty good.  I had yet another follow up visit with Dr. Butler (the ENT).  He asked me if I had an appointment set with a neurologist.  I explained with a smile that I had an MRI and that my brain looked much younger than a guy my age, so, no worries.  His response was different than I expected.  He told me that there are a lot of neurological problems that can affect speech that would not appear on an MRI.  Again, he instructed me to get an appointment with a neurologist and to do it NOW.

Well, everyone knows that you don't just call the neurologist on the corner and get an appointment for tomorrow morning.  These are busy people.  It takes time.  I was going to have to wait several weeks to see Dr. Banks, the neurologist that Dr. Hansen wanted me to see.  I had heard good things about Dr. Banks, so I decided it was worth  the wait.  But it was now early December and the earliest appointment I could get was January 23rd.

Meanwhile, I started noticing some other things going on.  I started experiencing muscle twitches in different parts of my body.  Everyone has felt muscle twitches and knows what those feel like.  But, this was different.  I was having a LOT of twitches, and not just in one place.  These were head to toe.  At times it felt like there were tiny woodland creatures crawling around under my skin.  Still, I was more curious than concerned, so I started looking on the Internet, trying to see what things could cause speech problems and muscle twitching. 

Try this some time:  Open up Google and type in "slurred speech muscle twitches" and see what you get.  The first thing that is listed is ALS.  So naturally you want to keep looking, right?  No one wants to see ALS.  So I created a list of different conditions that had the same symptoms.  None of them looked very "fun."  But if I had to choose, ALS was not on the top of the list.

Now the wait was on.  I had my slurred speech, my twitches, a list of ailments from Google, and a few weeks to kill.  So I spent the holidays speaking as though I had been enjoying the holidays a little too much for a Mormon boy, and twitching up a mini storm.  These things didn't prevent me from having nice holidays and continuing my work at the University of Utah, but hey, if you want to be constantly reminded that something might be wrong, have someone shoot novocaine into your tongue and then poke you lightly all over your body 24x7.

http://www.alsa.org/about-als/symptoms.html

Maybe this is the new me?

This all started early in the fall of 2011.  I had been experiencing some problems with my voice.  Nothing strange; mostly my voice simply got softer and more hoarse.  My regular doctor, Matt Hansen, suggested that I see an Ear, Nose, and Throat specialist (ENT).  Dr. Butler, the ENT examined me and decided that my little problem was most likely caused by some minor acid reflux.  They gave me some antacids and some advice on how to minimize the problem and asked me to follow up in a couple of months.

As the weeks passed, my voice didn't improve, and I found that I was having problems with my speech.  It was as though my mouth couldn't form words as easily as before.  This was annoying but I wasn't alarmed.  I figured it must be something related to my acid reflux problem.  One day, I was visiting with a colleague at work, our Finance Director, Lisa.  It just so happens that at this same time I was having a problem with my shoulder called adhesive capsulitis - frozen shoulder.  This is an annoying condition but not unbearable by any stretch.  Lisa was having a different kind of problem with her shoulder and that day she asked me how I was doing.  I told her that I was fine.  She asked me if I had been taking pain medication for the shoulder.  I answered that I was not.  She then asked me again, as if she didn't believe my answer.  I assured her that I would know if I were taking pain meds, and unless someone was slipping something into my Dr. Pepper, I was clean.  She then told me that she was concerned about my speech.  She said that I sounded as if I were under the influence of a narcotic substance.

Within a few days of my conversation with Lisa, I was conducting a meeting with some folks at the University of Utah, when Chuck, the Dean of the Graduate School, asked me what I had been drinking for lunch. I passed that off as just a funny comment.  Then, one day, my boss, Eric, the University CIO, also asked me, "When is that going to get fixed?"  He was talking about my voice quality and my slurred speech.  I said that I didn't know - "Maybe this is the new me," I said.  I decided that I had better ask my ENT to take a closer look at what was going on with my voice.

When I visited the ENT, I asked him if he could check to see if there was something going on that would affect my speech - not just my voice.  He gave me a concerned look, mentioned that he could hear the change in my speech, and told me that he would take a look but that he didn't think he would find anything.  He scoped my throat, vocal cords, etc., and comfirmed that there was nothing that he could see that would be changing my speech.  Then he told me that I needed to ask my regular doctor, Dr. Hansen, for a referral to a Neurologist.  I was like, HUH?  He told me that I should try to get something set up as soon as possible.

A few days later I had a follow up visit with Dr. Hansen.  I passed on the info from my ENT and Dr. Hansen said that he also noticed a change in my speech.  He said that I needed to get an MRI on my noggin as soon as possible.  He was able to set it up for the very next day.  On the paperwork, the reason given for the need for an MRI was "onset of disarthria." So, I went in, got the MRI done, and received results that said that my brain was not just normal, but very good looking!  No problems.  I breathed a sigh of relief, but I found that this was not the end of it.