There are certain principles for which “zero-tolerance” is entirely appropriate. Murder, rape, any serious crime for that matter. But no one is perfect. And no amount of punishment is going to make anyone perfect. Just think about the phrase “zero-tolerance”. Is that really a policy we want to adopt in ALL situations? Is zero-tolerance compatible with our American ideals? Is it compatible with our religious ideals?
There is another principal in Western civilization that says “The punishment should fit the crime”. Yet in this era of zero-tolerance and political correctness run amuck, too often the careers and reputations of offenders are being destroyed even if they are simply someone who showed bad judgment or behaved in an insensitive, immature or inappropriate way. Such extreme sanctions should remain reserved for the most blatant and severe criminal behavior.
I’ve already spoken in a recent entertainment blog about the case of comedian and talkshow host Chris Hardwick who was temporarily suspended because of allegations of abuse and blacklisting made by his ex-girlfriend. While I’m fully supportive of #MeToo and make no excuses for bad behavior, there is a significant difference between someone like Harvey Weinstein or Bill Cosby as compared to some guy who had a bad breakup with an ex-girlfriend. Men (and women) need to be held accountable for their bad behavior but the consequences of that bad behavior need not always be the total destruction of a person’s career or even their reputation.
Two cases have recently been prominent in the media… one national and one more local. Locally we have the case of sports broadcaster Bob Lamey who recently retired as the play-by-play announcer for the Indianapolis Colts radio broadcasts. He has received numerous accolades for three decades of quality work as a broadcaster and announcer not only for the Indianapolis Colts but for the Indianapolis Motor Speedway and other activities. He is much beloved and respected by fans, fellow journalists, and athletes.
A couple of days after his announced retirement, the story broke that there was more than meets the eye behind the story. Lamey had used the N-word and an African-American woman who heard the conversation was seriously offended. She reported it to human resources who in turn reported it to the Indianapolis Colts who are his employer. The story of his retirement made no mention of the incident so the woman involved told her version of events to the media.
While his use of a racial epitaph was inappropriate and insensitive, he was not using the word himself. He was recounting a story in which someone else had used the word and he quoted them verbatim. While he could have substituted the phrase “N-word” when telling the story, he didn’t. He should have. It was insensitive. It was inappropriate. One can argue it is indefensible.
But it doesn’t make him a racist.
I have no problem with a zero-tolerance policy towards racism. Racism needs to be called out, confronted, condemned, and the consequences of those who are shown to be racist should be severe.
I also don’t deny the power of the word and all that its history implies. In this recent editorial in the Indianapolis Star columnist Suzette Hackney says “Dear white people, stop using the N-word”. She makes her case much more eloquently than I could especially since I’m an old white guy. I would have to agree with pretty much everything she says.
She points out that the use of the word by African-Americans themselves is not license for others to use it. I can agree with that. She admits it’s a double standard.
The point with which I cannot agree in this debate is that the use of a particular word without taking into consideration the context in which it was used should not be grounds for total condemnation of the person using the word or the total destruction of their career and/or reputation.
The complainant in the Lamey case went on TV and expressed her outrage at the accolades being served upon him. In her opinion, the single use of this word not directed toward someone but by merely quoting someone else’s use was sufficient to make him unworthy of any form of praise. She was appalled by those who say that Lamey deserved to be enshrined in the Colts “Ring of Honor” at Lucas Oil Stadium.
To me this is totally ridiculous. There has been zero evidence that Lamey is anything beyond a person who made and insensitive remark. There have been no accusations of racism in any way shape or form.
The Colts organization have finally acknowledged that they accepted his resignation because of the incident. It’s unfortunate that they could not have been more open about the reason for his retirement but I can understand that they would want to allow him the dignity of a quiet retirement so that he might avoid the kind of unjustified over-the-top condemnation he has now received. Even complainant acknowledges that at the time of the incident, upon realizing that he had made a mistake, he profusely apologized. In another embarrassing incident a few years ago when he slipped up and dropped an F bomb during a Colts broadcast he was also greatly embarrassed by the mistake and sincerely apologized.
How did we become a society that is so easily offended by the mere utterance of a single word? What happened to the old adage “Sticks and stones will break my bones but names can never hurt me?” How did we lose our ability to forgive?
The other similar story that has been dominating the national news is the story of “Papa” John Schnatter the founder of Papa John’s Pizza who admitted to using the N-word on a public relations call. Schnatter has resigned as chairman of the company he founded as well as from various other boards and organizations. He has been a renowned philanthropist who has donated money to several universities and other organizations which have seen fit to remove his name from buildings that were named in his honor as a result of his philanthropy. When Ball State University decided not to remove his name from a building and issued a statement saying that they could forgive his insensitive misstep, the outcry which arose forced them to reverse their previous decision to be compassionate and forgiving.
While I do not know the full details or context in which he used the N-word, from everything I’ve read it was a situation similar to Lamey in which he was not making use of the word himself but quoting someone else. Again it was inappropriate, insensitive, and worse than Lamey it was in a more public setting. Again there have been no accusations of racism… merely obvious insensitivity and inappropriate use of the word. Like the columnist said… Dear white people, don’t use the N-word. But does this offense warrant the total destruction of his career and the erasure of his philanthropic work? Chris Hardwick had his name removed from the website nerdist.com as its founder as if he had never existed let alone created the organization. The erasure of someone from history is a tactic straight out of the totalitarianism in the novel “1984”. We are erasing from history the good works of people over singular missteps.
Don’t get me wrong… I don’t think every rich guy who put his name on buildings has free license to espouse racist views. If for some reason that was too subtle for you I’m talking about Donald Trump.
When we impose such extreme sanctions on the relatively minor offense of an insensitive comment as we do on those who are blatantly and undeniably racist then we diminish the severity of those who truly are racist. If there is only one level of offense and one level of punishment it unjustly punishes those with minor offenses and it unjustly lessens the impact of those who commit major offenses.
The word “prejudice” means to prejudge a situation. It means to call judgment upon someone without taking any consideration all of the circumstances. It ignores context. In our battle against true prejudice we are prejudging anyone who commits any offense whatsoever. Zero-tolerance as a policy can only be justified in the most extreme cases. Zero-tolerance was the justification for separating immigrant children from their parents over misdemeanor charges. Zero-tolerance does not allow for degrees of offense. It does not allow for the punishment to fit the crime. It does not allow for compassion nor forgiveness. It doesn’t allow for one’s intent to be considered beyond the actual offense.
The only way that we can survive as a society is to find it in our hearts to find tolerance where it is justified. To find compassion for all. And to forgive others especially when they have credibly expressed repentance for their mistakes. If we cannot do this, our civilization will cease to be civil and thus cease to be at all.
This is the ninth in a multi-part blog about my 2 week stay at St. Vincent Seton Specialty Hospital. It’s been several months since I added to this series because I’ve been busy doing other things. However it’s time to make a big push and finally finish the story. There are other major events happening in my life right now so I need to put this behind me and move onto the next chapter. Here is an index to all of the entries in this series.
Training Day
We are now down to December 27, 2016 and this was a banner day that we had been waiting on for a couple of weeks. The respiratory therapist from Home Health Depot was coming to visit to show me all of the equipment we had been waiting weeks to get. He needed to train Dad and Carol on how to use it. Also present were 2 nurses from St. Vincent were going to be visiting me from time to time once I got home. I’m not really sure why they needed to be there since theoretically they should have known how to operate all of this anyway. 12/27/2016 7:30 AM
The therapist was a really nice guy named Josh who not only delivered the equipment and trained us, he continued to be our representative for many months. In the first week home he made several visits which eventually tapered off to a monthly visit where he would download data from the ventilator, perform preventive maintenance, and bring us additional supplies.
Josh later went on to do respiratory work in a hospital and was replaced by another guy. We continued to have good people serve this role of the monthly visit to check the machine and to bring us supplies. At one point Home Health Depot sold its business to a company called Lincare which is a terrible company to work with. We ended up switching to a different company called Aerotech and we get good service from them to this day.
The demonstration and training started off with a ventilator called a Trilogy which from what I’ve learned is one of the most popular small portable ventilators available. I had already done some research about it on the Internet. It’s pretty versatile in that it can be used as a ventilator, CPAP, or BiPAP. It has a backup battery that will last several hours in case of a power failure. It comes a rollaround stand. Just below the ventilator is a humidifier device. It is a small heater that heats up a clear plastic chamber with a metal plate in the bottom of it. You fill the chamber with distilled water and a hose coming out of the ventilator blows through the chamber picking up heat and humidity before going through a hose that connects to your trach.
The ventilator that I had been using in the hospital had 2 hoses coming front it. One was to push the air in and the other let me exhale. They connected to a small Y connector right before they connected to the trach. This ventilator only had one hose. To allow you to exhale, it had a small connector that they call a “whisper swivel”. It is a swivel connector so that the hose doesn’t get twisted but it also has a small gap in it that allows air to escape. If you didn’t have some way to vent your exhaled carbon dioxide you would just keep re-breathing that same gas and would get carbon dioxide poisoning. It’s similar to the tiny hole in my CPAP mask which allows me to exhale. I later learned why it’s called “whisper”. A few months ago we tried out a different type and it made a lot of noise. We stuck with the quiet version.
Jumping ahead in the story a bit… This relatively minor different between the ventilator that I had been using and the one I was going to continue to be using was a bit disturbing the first night. Exhaling felt significantly different. I really wish they had brought the equipment in sooner so that I could get accustomed to it before I left the hospital. As it turned out, the difference wasn’t really that much once I got accustomed to it. But it was a little bit scary the first night when I noticed how it felt different. I wasn’t immediately sure how I would adjust.
The next piece of equipment was a suction machine. This was one of the things that had concerned me the most. Not only was it going to be handy when I needed to spit in the Yankauer, it was also going to be necessary to suction the trach with a catheter. I was concerned about how portable this machine might be. As it turns out it was going to be fine. It fits nicely in a padded cloth case are little larger than a sixpack cooler. It has battery power as well as plug-in. Although it was a little bit larger than I wished it was, I was sure it would work and keep me mobile to go places like visiting family or going to the movies. I have seen other models that were smaller and more portable than this one but I’ve not taken the time to pursue them. This one is working out okay nearly 2 years later.
I was also going to get a small air compressor pump that would provide enough air for a nebulizer treatment. I have been getting these treatments every six hours around the clock. I knew I wasn’t going to do the treatments that often but I wasn’t sure how much I was going to need them. As it turns out I really only need them on as needed basis. I’ve probably only done 8 or 10 of them in the past 20 months.
The one missing piece of equipment was a high flow air compressor that would provide humidity to the trach when I wasn’t on the ventilator. This compressor would use the same humidifier as the ventilator. As I mentioned before, all of the time that I was in bed they insisted I stay on humidified oxygen that would blow into a cup that fits over my trach and talking valve. When I was sitting up in the wheelchair in the hospital I would get off of the humidifier and some days that was okay. However other days I could feel myself drying out thus creating some congestion. In some respects being connected to a humidity source was a kind of dual edged sword. If I became dependent upon it, it would not only restrict my movement away from home but it would also tie me down to one location in my house. On the other hand if it was something I really needed, it was the one thing that wasn’t being addressed despite all of my questions. The respiratory guy from Home Health Depot assured me that he could get me the compressor. All they needed was orders from the doctor that was going to be easy to get.
I’m going to jump ahead and tell the rest of the compressor story out of sequence. While all of the other equipment was reasonably sized and portable, this compressor is a monster that weighed a ton. It was about 2 feet long, a foot tall by about 8 inches deep. It was also very loud compared to the other equipment. For the first couple of weeks, my daily routine was I would get off of the ventilator very early in the morning when Dad would get up about 7 AM. I would then go on the compressor/humidifier until I would get up and dressed and about 10 AM. On rare occasions I may have put it on when I went to bed at about 9 PM and use it until 11 PM when I got on the vent. But eventually I found that it wasn’t necessary at all. It turned out that getting rid of the device was as hard as getting it in the first place. We had a choice of either getting the doctor to rescind his orders or to sign a document saying we were no longer using it against medical advice. Because it was going take a special trip to the doctor just to get those orders changed, at one point I finally just told them to take it and we would sign the AMA form. We made this move when we transitioned from Lincare to Areotech.
I did try one other humidity device. There is a small fitting that you can put on your trach called an HME or Heat and Moisture Exchange device. It sometimes is referred to as an artificial nose because your nose warms and humidifies the air you breathe in. I previously discussed this in an earlier installment. We did end up trying them out and I used them occasionally but not very often and not recently. I still have a huge box of them.
Overall the training went very well and I was satisfied that I was going to get the equipment I needed. Here was my Facebook post from that afternoon which expresses my great relief that we were getting closer to sending me home. 12/27/2016 4:03 PM
I stayed in bed that day and got caught up on some other things. Among them I finished editing and posting a blog entry that was top 10 stories of my life for 2016. Here’s a link to that entry.
The other fun thing that happened that day was that I reconnected with Brady Hansen. He was the medical student who had helped care for me when I was in the ICU. I forget the details of how he tracked me down. I believe I had left notes in the ICU for the staff with links to my blog and/or Facebook page. Anyway I got email from him and he had begun reading my blogs about the days in the ICU. He said it was great insights for someone who was about to be a doctor. I encouraged him to share with anyone he wanted. We connected on Facebook and I’ve exchanged a message or two with him from time to time since then. At one point he shared that he was very pleased that he had gotten a residency at a military hospital in California. He had previously been in the military and although it meant moving his family, they were still very excited about it.
The other thing I did that evening was I did some research about the speaking valve that I use. It’s called a Passy-Muir device named after the 2 people who invented it. David Muir was not a designer or engineer or medical professional. He was just a guy with muscular dystrophy who ended up on a ventilator like me and was frustrated that he could not talk. Here is a link to a Facebook post that I made that day about him. It contains a link to a biography page about him. I’m sorry to report he passed away years ago but thanks to his ingenuity I and people like me have a voice. I am greatly indebted to him. 12/27/2016 5:59 PM Click here to read a biography of David Muir. http://www.passy-muir.com/david
Being Tested
The final item that we needed to check off before I would be allowed to go home was that Dad had to spend the night with me to prove that he was capable of taking care of me. They brought in a folding bed with wire springs and a rather thin foam mattress completely encased in slick black plastic. They covered it with a sheet that didn’t really fit very well. When you try to sit on it, the sheets would slide around on the slick plastic. The plastic covered mattress on the metal springs made a horrible squeaky noises every time you moved. Later the next day we suggested they ship it to Guantánamo Bay however even Dick Cheney might think it was too harsh of a torture for use on terrorists.
Dad and I were both pretty miffed that he even had to do this. Dad came up with the idea that he was going to make the most of it. If patients in the hospital were entitled to three meals a day and I wasn’t taking advantage of that because of my G-tube, he tried to talk them into bringing him a breakfast tray in the morning as if he were a patient. I tried to tell him he wasn’t going to get very far with that request but he made it anyway. As I expected they were not too keen on the idea and instead told him what hours the cafeteria opened in the morning.
The respiratory therapists from the hospital were in and out that afternoon and evening. They couldn’t help themselves but to play around with the controls and menus on the ventilator even though they’ve never seen one like that before.
In the hospital I had a nurse call button but I’ve spoken about extensively in previous blogs. But during the night, if Dad was going to take care of me, I didn’t want to call the nurse. I needed to call Dad. So we had to bring my call buttons from home. It’s a little Arduino based gadget connected to an X-Bee radio system. It sends a wireless signal from a box in my bedroom to a box in Dad’s bedroom. His box has a loud buzzer on it. So even though we were in the same room, because I can’t talk with the vent on, we needed both boxes so that I could buzz him.
I was concerned that because the buzzer is very loud that it would disturb the other patients or cause the nurses to come running. I wanted to close the door on my room but they said it was against policy to have patients room door closed. We had to leave it open a crack.
Dad had no trouble getting me on the ventilator so we settled down for the night. Every time Dad made the slightest movement his terrible bed made all sorts of squeaky noises. Dad is always a restless sleeper. He tells me that at home he wakes up in the middle of the night with the sheets or covers balled up. With the sheets sliding around on the slippery plastic, it was a wonder he was going to have any sheets at all.
When I’m in bed, they insisted I be connected to an oximetry and heart rate detector. If my oxygen level or heart rate drops below certain levels it rings an alarm. Whatever the default setting is for the heart rate, my sleeping heart rate often goes below that. We’ve been adjusting the level so that it doesn’t trigger so easily. But every time I take the device off and put it back on when I get up in the wheelchair, it resets the defaults. So in the middle of the night, my heart rate went low and the alarm beeped. Dad thought it was me pressing the call button. So he got up trying to ask what I wanted. I had to use my message board with him pointing at various things to try to figure out why I called him. I didn’t have an item on the board saying “I didn’t call you”.
We eventually resorted to taking me off of the ventilator temporarily and putting my speaking valve back in. Then I was able to explain to him what had happened. I don’t recall if we got the nurse or the respiratory therapist to reset the trigger level on the heart rate monitor or not. In the process of taking the off of the ventilator, the ventilator alarm started ringing and we had difficulty figuring out how to reset it. That drew the attention of the respiratory therapist.
It was a wonderful woman about 50 something years old who was my favorite of all the respiratory therapists. I’m embarrassed to say that I don’t for certain remember her name especially because I had grown so fond of her. I guess I didn’t put her name in my notes because I thought that I would never forget her. As I said she was my favorite of the entire two weeks and as you will see played a vital role in getting me out of the place. I’m going to call her Shirley because I know that wasn’t her name and I don’t want her to get in any trouble over the rest of this story.
I don’t recall the exact sequence of events that followed. Shirley was in and out a couple of times. We had explained to her how we got the alarms mixed up. She helped us get everything reset on the ventilator the way it should be.
Somewhere along the way of this entire process of getting me off and on the vent, Dad made a mistake. He made a mistake that we had discussed extensively over a period of days before we ever got to this overnight test. It was the only mistake that you could make with the ventilator that was potentially dangerous so we had discussed it thoroughly. But in the middle of the night when we are both half-asleep or had been sleepless all night as he had been, it’s easy to make mistakes.
The trach has a balloon-like device called a cuff that you have to inflate with air using a small syringe. It cuts off your upper airway above the point of the trach so that when the ventilator blows air into the trach, it doesn’t blowback out through your mouth and nose. The danger is, if you put the talking valve back on the trach without first deflating the balloon, you can’t breathe. In this case Dad was getting ready to put me back on the vent and he inflated the balloon before removing the valve which has the same bad effect. If left there too long it could kill me. As I said, we had discussed the situation thoroughly. We knew we couldn’t guarantee that we would never make that mistake. But we both convinced ourselves that if it happened, he would see that I was in distress and immediately remove the valve allowing me to breathe.
We really didn’t think we would end up making this mistake on the first night. But when it happened, our contingency plan where he would notice my distress and do something about it would have worked perfectly. In fact he was just about to reach to remove the valve so that I could breathe. But there was a problem… Shirley was there. She witnessed it all. And she quickly grabbed the valve before Dad could.
It was as much my fault as it was Dad’s. Shirley was on her way out the door and I thought something else I wanted to say to her. I don’t remember what it was. So I had not noticed that dad was inflating the balloon until it was too late and once it was inflated I could not talk to stop him. If we had been alone, I would not have been distracted and would have reminded him to remove the valve before inflating the balloon.
We were there that night to prove that Dad could handle taking care of me by himself. But when the alarms went off on the vent we had difficulty resetting them. And in the process of trying to get me off of the vent, we made a very serious (potentially fatal) mistake. I knew I was okay the entire time. But what scared the crap out of me was that we had failed the test. I was worried they would not let me go home.
Somehow I managed to get to sleep despite my worries. My estimate is that night I may have gotten five hours sleep. Dad thinks he was lucky if he got three. It was sometime around 5 or 6 AM that I told him to get me off the vent. I knew he had had a terrible night and suggested that he go down to the family lounge down the hall and tried to get some rest in a recliner chair or sofa there. He said that the furniture in that room was no good and he wouldn’t be able to get any rest. We would just have to tough it out the rest of the day.
Then we discussed what we needed to do about Shirley. I told Dad that we needed to explain to her that even though we made some mistakes, we had planned for these mistakes and that we would have been okay without her help. He agreed that we needed to say something to her. Her shift change was at 6 AM so Dad stuck his head out the door and kept his eyes open for her. He flagged her down and we invited her in to talk.
I said approximately the following… “We need to talk about what happened last night. The whole purpose of Dad being here was to prove that he could take care of me on our own. But we had some problems last night that you helped us to resolve. I want to describe to you from our perspective what we think happened last night. When the alarms went off on the ventilator, we had a little difficulty figuring out how to turn them off. The one on the vent is easy. But the one on the humidifier heater is different. Even if you fix the problem, it still keeps beeping until you hit the reset. We’ve got all of the paperwork and instructions here and we would’ve figured out how to reset it eventually. So while we appreciate you helping us out, we are confident we could have handled that part on our own.”
Then I continued with the bigger issue… I said “The other thing that happened last night was that Dad inflated my balloon without removing the valve first. We had talked about this possibility extensively prior to this. We had both convinced ourselves that if we made such a mistake that we would recognize it quickly and we knew exactly what to do to fix it. It just so happened that you were here and fixed it first.” I also explained how I had gotten distracted and did not warn him what was going wrong. I explained if we had been on our own, I would have been more focused and it would have never happened in the first place.
I concluded by saying “From our perspective, that is what happened. We could’ve gotten through all of that on our own. From a different perspective we recognize that it seemed like we didn’t know how to operate the machine and that at one point Kenny nearly killed Chris.” I kind of snickered at that point and she responded by letting out a big laugh.
I went on to say that I realized she was a professional with a responsibility to do what she thought was right. I was not going to ask her to keep this information quiet. “You’ve got to do what you feel is right under these circumstances. This was a test to see if we could handle this on our own. From our perspective we are capable of doing that despite what you saw last night. I just wanted to share with you our perspective on the events and we trust you will do what you think is in our best interest.”
She was totally cool about the whole thing. The first thing she said was that she and every respiratory therapist she had ever known had made that exact same mistake but had only done it once. She said when that happens and you realize it and you fix it, it scares you so bad you know you will never make it again. So you guys have already had your scare. She went on to say she understood what we were saying and that she had every confidence that we would be okay on our own.
If I could have, I would have jumped up out of bed and kissed her full on the lips. 🙂
Hell, I already had kind of a crush on the woman before all of this. That night she saved my life… not by pulling the valve so I could breathe. She saved it by believing in me and Dad and letting us move forward with leaving the hospital and getting on with the rest of our lives. I can’t begin to describe how much she meant to me. She was so genuine in her explanation that I’m not really sure I needed to make the speech I made. Whether or not my words convinced her is irrelevant. In the end, she said nothing and we were able to go home the next day.
Over the past 20 months since then I think we may have done it twice more. In both instances it took less than 5 seconds to realize mistake and fix it. We were right in speculating that we would make the mistake from time to time and we were right that if it happened we could fix it without putting me in any serious jeopardy.
Having passed the necessary test and survived the night. They agreed that I could go home that day. But getting out of a place like that is never easy. Scofield and Burrows on the TV show “Prison Break” have gotten out of prison easier than I did getting out of the hospital. Details in the next installment.
Note: this blog was originally written in August 2018 but was updated in 2019 and again in 2020 with more current information and corrected some errors.
This month has been designated by someone as “SMA Awareness Month”. As someone who has had Spinal Muscular Atrophy or SMA his entire life I don’t think I could be more aware 🙂 I always wonder about people who have breast cancer or who have family members who have had breast cancer if they ask the same question whenever they say it is “Breast Cancer Awareness Month”?
Really?
Is there anybody out there who has never heard of breast cancer?
But seriously folks… Back to the topic at hand. SMA is considerably more obscure. Even if you’ve known me many years you may not know why I’ve been in a wheelchair my whole life. What put me here? What is SMA?
So in the spirit of SMA Awareness Month” I thought I would spread a little knowledge and invite questions.
What is Spinal Muscular Atrophy – SMA?
SMA is a genetic disease. Both my mom and dad were carriers and did not know it. Estimates are that approximately one in 40 to 50 people are carriers. Even if both parents are carriers there is only a one in four chance that each child would have the disease. Of course that’s just a percentage over the long haul. You can flip a coin 10 times, have it always come up heads and the next one is still 50/50.
There are a variety of types of SMA. Type 1 is extremely severe and without intervention those kids are lucky to see their second birthday. With respiratory support, G-tube feeding etc. they can live several years. There are a choice of new treatments that can prolong that. More on that later.
I have Type 2 which is not as severe but it generally means that I never walked (which I did not). Type 3 people can generally walk until their early teens and sometimes later. There is a type 4 which actually is a significantly different disease but is still called SMA and I don’t know much about it. Even within the types there is a great variation. On various Facebook groups related to SMA I hear people describe themselves as “a strong Type 2” or “a weak Type 2”. I have a Facebook friend who lives in Canada and we are both Type 2 but her current physical ability at age 50 is about where I was at 21 or 22.
The disease causes an overall weakening of your muscles. It does not involve any loss of sensation or paralysis. The muscles just gradually get weaker a.k.a. “atrophy”. It is actually a neurological disease however not necessarily a muscular one although it is often lumped into the general category “muscular dystrophy”. There are nerves in your spine called motor neurons. They are responsible for making your muscles move. They have nothing to do with your sense of touch or sensation. The motor neurons quit working and eventually die. That causes the muscles to atrophy.
The disease is in some ways similar to ALS or Amyotrophic Lateral Sclerosis. Although the root causes are very different and the progression of the disease is different, both of them involve the loss of function of motor neurons. ALS is often referred to in this country as Lou Gehrig’s disease because of the famous baseball player who had it. In Europe especially the UK it is referred to as Motor Neuron Disease. Its most famous patient was renowned astrophysicist the late Stephen Hawking. So while there are some similarities, they are completely different diseases.
What Went Wrong?
Okay how does it work? Why did I end up like this?
In every cell of your body you have 23 pairs of chromosomes. Chromosomes are coiled up strands of DNA. Sections of the DNA strands called “genes” are strands of instructions that tell your body how to do different things. DNA is made up of 4 molecules chained together like a twisted ladder. You’ve probably seen drawings or models of it. Each rung of the ladder is made up of two molecules linked together. The 4 molecules that make up DNA are called A and T or C and G. The order of these four letters is a kind of code. The strings of code are divided into sections called exons and introns. The exons are the code and the introns are just sort of filler material.
In your number 5 chromosome at a location called 5q13.1 is a gene called SMN 1. SMN stands for “Survivor Motor Neuron” gene. It produces a protein called the SMN protein. Without a sufficient quantity of this protein, your motor neurons die and then your muscles weaken and presto… You’ve got SMA.
In people with SMA like me, there’s a mistake in the SMN gene. The seventh exon is missing. Think of the chromosome as a strip of movie film where you cut out a section and spliced it back together. When DNA gets copied when your cells duplicate, it tends to get copied in chunks. The ends of the chunks are like pieces of a puzzle that only fit together in certain ways. You have probably worked a jigsaw puzzle where there were pieces that almost fit even though they weren’t the right ones. It just so happens that the ends of the chunk around that particular exon are similar enough that under the right conditions (I guess I should say wrong conditions) they can stick to one another forming a small loop. That leaves a gap in the film strip and even though they aren’t quite right, those pieces end up sticking to each other and the little ring of DNA gets lost.
Once a mistake occurs, it’s passed down generation after generation through carriers of the disease. But it is technically possible that that mutation can spontaneously occur and someone with no history of SMA in their family could get the mutation when that little ring accidentally forms.
Once you got a screwed up SMN1 gene, it’s not going to make the proper protein, and so you’re screwed. Almost…
As Jeff Goldblum famously says in all of the Jurassic Park movies “Life finds a way”. Mother Nature or God or natural selection or whatever you believe in… Has a backup plan. There is another gene that everyone has further down the fifth chromosome called the SMM2 gene. It’s a backup copy. In fact some people have multiple backup copies. But there’s a problem… The backup got corrupted. In the long strings of A, T, G, and C there is a one letter mistake. Think of it as a single bit error in a computer code. Everybody’s SMN 2 genes have this mistake. The end result is that SMN2 only works on average about 20% of the time. So even if your SMN1 gene is totally screwed like mine, the SMN2 occasionally makes up for it. But it’s just not enough.
How Does the Inheritance Work?
Now that we’ve established that the cause is a missing chunk out of your SMN1 gene, how does that get passed on?
As mentioned previously everyone has 23 pairs of chromosomes. You have 2 number 1, 2 number 2 etc. You’ve got one of each from each parent. The problem is in my fifth chromosomes. We each have two of them. One came from mom and one from dad. My mom and dad were both “carriers” of SMA. That means that in their fifth chromosomes they had one that was normal and one that was damaged by having that number 7 exon missing. They don’t exhibit the disease because their good copy on their other number 5 chromosome covers it up.
When I was conceived, I had a 50-50 chance of getting either a good copy or a bad copy from each of them. If I got the good one from both mom and dad (25% chance) I would’ve been okay as would my children and children’s children etc. If I had gotten a good one from mom and a bad one from dad or vice versa then I would be a carrier as well. Each of those has a 25% chance for a total of 50% chance of being a carrier. The remaining 25% chance is that I got the bad copy from both. Lucky me! I got the bad copy from both.
My sister Karen obviously does not have the disease so one of three things has happened. Either she got 2 good copies, she got a good one from dad and a bad one from mom, or she got a good one from mom a bad one from dad. That means there is a 66% chance she is a carrier. If her husband is not a carrier as well, her kids are at no risk of actually getting the disease. Her only son Cole is fine.
Because we know that my mom and dad were both carriers, that means that at least one grandparent on each side was a carrier. That means that my Uncle Keith on my dad’s side or my late Aunt Jody on my mom’s side have a 50-50 chance of also being a carrier. If they are not carriers, none of my cousins are at risk nor will their descendants carry it. If Keith or Jody are carriers, my cousins could not exhibit the disease unless Aunt Barbara or Uncle John were also carriers. None of my cousins nor their kids or grandkids so far have exhibited the disease. If my Aunt or Uncle were carriers, my cousins have a 50-50 chance of being a carrier themselves.
But what about me?” Pardon me quoting the old joke “I have no children… That I know of :-)” and at age 65 with no romantic involvement in my life I doubt that I will. But there’s no reason I couldn’t have children. What about them? People who have the disease of course pass it on to their offspring and so technically they are carriers but usually we reserved the word “carrier” for someone who carries the gene but does not exhibit the disease. But anybody with the disease does automatically pass it on. I’ve got two bad copies of the gene so at minimum, all of my kids would be carriers. If my wife was not a carrier then that’s all the risk we would have. If she was a carrier, half of our kids would have SMA and anyone who did not have it would be a carrier. If my wife had SMA, we would both have 2 bad copies and therefore ALL of our children would have two bad copies and have SMA.
How Do You Test for SMA?
They just take a blood sample and send it to a genetic testing lab. They sequence your number five chromosome and look for the missing chunk. If you’ve got a double deletion like me you have the disease. If only one of your two number five chromosomes has a deletion they can tell that you are a carrier. These tests can also be performed prenatally using amniocentesis or by testing in vitro cells prior to implantation. Which brings us to our next topic…
How to Cure SMA
Short version… Become a Nazi.
Either kill or sterilize everyone who is a carrier. They will never pass on their defective qualities and in one generation SMA will be virtually wiped from the planet. We become a super race of genetic perfection and rule the world. There is the possibility of spontaneous mutation by creating that little DNA ring by mistake that I talked about earlier. We can kill those people off as we find them.
Alternate solution only slightly less drastic… You can test for SMA by doing amniocentesis. If it turns out that your unborn child will have SMA, abort it.
Further solution only slightly less drastic… If you do in vitro fertilization (otherwise known as a test tube baby) conception occurs outside the womb. The fertilized egg is allowed to grow until it is a small clump of cells. You then extract a cell and test it for SMA. If it has SMA, you flush the embryo down the toilet and only implant the healthy ones. Sorry… that toilet comment was just speculation for dramatic effect. In reality the embryo is probably incinerated in an oven. We are Nazis after all. Right?
While I don’t know of anyone actually going around sterilizing or killing SMA carriers these days, I’m sad to report that abortions and selective in vitro procedures are being done to avoid having children with SMA.
In short… These people believe that people like Chris Young ought to have never been born.
Pardon me if I take that personally.
I’ve never been opposed to abortion just because the Catholic Church says so. I’ve always felt it was a really bad idea through my own innate conscience and sense of morality. Then I am especially opposed to abortions which implement such selective breeding practices. It turns human life into an animal commodity for breeding purposes rather than the sacred thing that it is.
You could ask hypothetically what would a person be like if they had not caught some disease like polio or AIDS? You can ask what if they never suffered a spinal cord injury or had cerebral palsy due to anoxia during birth. But you can’t say what would someone with SMA be like without it. It’s genetic. It’s part of who we are.
Despite the harshness with which I have described this situation, I am sympathetic to parents who are facing tough decisions when they know that they have the potential to create SMA kids. The situation is especially complicated by the fact that there is no genetic test to determine which type of SMA a particular kid will have. As a Type 2 person who has lived 65 years and had a pretty good life in which I’ve made lots of effort to make the world a better place because I was in it, it’s easy to condemn anyone who doesn’t want people like me to be born. On the other hand Type 1 kids have it much, much harder. As I mentioned before, without serious intervention their life expectancy is 18-24 months. That intervention involves having a trach, ventilator, G-tube for feeding, 24/7 care, and a seriously impaired ability to do much constructive with their lives. Nobody wants to see their kids suffer.
I feel a strange connection to the Type 1 kids. Basically I’m in the same shape at age 65 as they are at age 2-3.
I have no problem whatsoever with parents who choose not to have children if they feel ill prepared to provide adequate care for a child with SMA. All parents should assess their capacity to deal with parenthood and all that it might entail before deciding to have a family. That is the responsible thing to do whether you have genetic risk or not. But I draw the line at selective breeding.
One also has to take into consideration that there now is a treatment for SMA if not a cure. The mortality of Type 1 is not as significant as it once was. More on that in the next section.
I recently encountered a family online who was considering preselection of in vitro embryos to avoid having a kid with SMA. They had already lost a Type 1 infant and could not bear the idea of suffering another such loss. They were opposed to the idea of abortion so I give them some credit for that. I can’t begin to imagine in my wildest dreams what they’ve been through. So it’s tough for me to sit in judgment of them. I really can’t.
On the other hand… I also met a family online who had a kid with SMA Type 1 and were inspired by the experience to adopt other special needs children.
Life finds a way.
How Do You Treat SMA?
Up until recently you couldn’t do jack shit. All you could do is try to mitigate the consequences of the disease.
I wore a back brace from the time I was five years old until my early 20s. It was basically a corset made of cloth and metal stays that we bought from the Spencer Corset Shop. Then in my 20s I switched to a plastic body cast the kind used for treatment of scoliosis. My spine has 2 curves in it 90° each. For various reasons at an early age I quit going to orthopedic doctors because they weren’t doing anything for me. That was a mistake. I should have had spinal fusion when I was a teenager. Most kids with SMA these days do get spinal fusion. They also get metal rods earlier than that that can be adjusted as they grow.
The biggest risk for people with SMA is respiratory issues. I’ve had pneumonia a couple of times. Most people with SMA use a device called a “Cough Assist” that helps them keep their lungs clear. They use it a couple times a day for prevention and every few hours if they have a cold or flu. Until recently I never knew such a device existed and I’ve never used one. I didn’t get my diagnosis until I was nearly 40 and none of my doctors knew what I had or what to do about it. When it comes to SMA specific medical care I’ve basically had none.
I started using oxygen at night to help me breathe better. That came after I developed congestive heart failure in my early 20s. Eventually I added a CPAP machine along with the oxygen. Then read in December 2016 I had to have a trach installed and the CPAP got replaced by a ventilator that I still use with oxygen but only at night. Here is the story of how I ended up with a trach.
Swallowing is extremely difficult. In May 2016 I got to the point where I couldn’t swallow very well anymore and so I had to have a G-tube installed. As I mentioned before, the Type 1 kids end up on ventilators and with G-tubes at a very early age. I’ve encountered many Type 2 people who also got a G-tube much earlier than I did and is not unusual for them to need a trach and ventilator eventually as well. Here is a blog post about when I got my G-tube.
Bathroom issues have always been a problem for me. In 2009 I had a ruptured intestine from diverticulitis and temporarily had a colostomy bag. However after about three months I had the procedure reversed and since then I have pooped “normally”. For many years I would use my Hoyer to lift me onto the toilet but in recent years that hasn’t been very comfortable and I’ve had to use a bedpan.
In September 2019 I had a suprapubic catheter installed in my bladder. If the tube that goes through a hole in my lower abdomen and empties my urine into a leg bag. Although I’m still susceptible to urinary infections overall it’s been a great solution I sort of wish I had done something earlier.
New Treatment Options
The issue of not being able to directly treat the disease but only its side effects changed dramatically in December 2016 when the FDA approved a new drug called “Spinraza”. It has shown dramatic positive effect on the young severe Type 1 patients. It’s not a cure. It doesn’t always work. In fact in the clinical trials it only works in about 56% of the patients. But considering the severity and mortality of Type 1 patients, it is a real godsend. When it works, the kids stay off the ventilator, there are even signs that some of the effects of the disease are reversed.
The positive effects of the drug were so dramatic during clinical trials that they opened the test from its double-blind format. Typically half of the patients get the drug and the other half get a placebo. But because it’s got such high mortality, once they discovered positive benefits they could not morally withhold the drug from the other kids. For the remainder of the trials everyone got the real deal.
The clinical trials were only for Type 1 kids who were very young, the FDA approval was for all types and all ages. I can get the drug if I wanted. The problem is, I can’t see it having any positive effect on someone my age and my state of deterioration. It’s not just a simple pill. It involves spinal injections in an outpatient hospital procedure every few months for the rest of your life. One time an anesthesiologist looked at my spine to see if I could get an epidural for some surgery I was having. He took one look at me and said “There is no way I’m sticking a needle in that crooked thing”. The long-term side effects of the drug are yet to be determined but respiratory issues are one of the listed side effects.
Because this is a so-called “orphan drug” for which there is a very, very small market, the drug company has to charge exorbitant prices to recoup their development costs. The first year of treatment costs about $750,000 and every year after that $450,000 per year for life. Both government and private insurance have been very reluctant to cover it. If they do it is more likely only for the very young Type 1 patients although some older Type 2 and 3 are getting the drug. It also depends on what country you live in. My friend in Canada cannot get it. Much of the UK cannot get it although Scotland does support it. Australia does. Brazil doesn’t. It’s hit and miss around the world.
Keep in mind that the progression of the disease is that the motor nerves die and that makes the muscles atrophy. This does not regrow the motor neurons. It only prevents them from dying. So the best case scenario for older patients is that they get no worse. If I was in my 20s I would be beating down the door to wherever they had it to get it. But at age 65, with limited upside and potential downside, it just doesn’t make sense for me.
Here is a blog that I wrote in December 2016 the day after the FDA’s approval came. It recounts the story of why it took me so long to get a diagnosis that I did have SMA. It also tells a humorous story about my encounter with the head of the Genetics Department where I used to work as a computer programmer. Although it includes some of the information I have already discussed above, if you’ve not read it before I encourage you to check it out.
I mentioned that everyone has an SMN 2 gene and possibly multiple copies of it but they don’t work very well. Because of that one bit error, the process of copying DNA to RNA and RNA creating the protein just doesn’t work. Spinraza makes it work better. It makes it so that the failure of SMN 2 to properly create the SMN protein is not as bad. There has been a big focus on how many copies of SMN 2 you have because that makes Spinraza potentially more effective.
I wondered what causes the difference between Type 1, Type 2 and Type 3 and speculated it was how many copies of SMN 2 that you have. But apparently there are other factors. There is a variability in how well SMN 2 works from person-to-person. So it’s a combination of a lot of factors. Some insurance companies will only approve Spinraza for people who have multiple copies of SMN 2.
Option 2 Gene Therapy Zolgensma
In May 2019 a new treatment was approved by the FDA. It is a gene therapy called Zolgensma. It is only approved for Type 1 patients age 24 months and younger. Here is a link that explains how it works.
https://www.zolgensma.com/how-zolgensma-works
In brief it is given by an IV injection. This is just any ordinary IV and is not a spinal injection like Spinraza. What they have done is taken a working copy of the SMN1 gene and inserted it into something called a vector which is basically an inert virus. The virus carries the new gene throughout your body and deposits it in your motor neurons. At least that’s what the video says. I would think it would deposit it everywhere but what do I know? It doesn’t actually alter your existing DNA. It just throws in an extra free-floating chunk that does what your damaged chromosome 5’s SMN1 gene doesn’t do. Once it has deposited the piece of DNA into the nucleus of your cells, the vector disintegrates and is excreted as waste. The cell then uses that extra piece of DNA to create SMN1 protein.
This is a one-time treatment whereas Spinraza is a new spinal injection every four months. You may have thought that Spinraza was ridiculously expensive. Zolgensma runs at about $2.1 million for a single dose. The last I heard, that makes it the most expensive drug per dose in the world. But if you consider the lifetime cost of Spinraza at about $350,000 per year it makes Zolgensma cheaper. Imagine what it would cost to created drug that you would take only once and never need to take it again. The development costs of most drugs is spread over hundreds of thousands or even millions of patients and spread over millions of doses. But a small population like SMA and a one time treatment it’s really difficult to recover your development costs.
The catch for someone like me is as I said, it’s only available for infants 24 months and younger. So it’s not available for me. There has always been hope that it would eventually be approved for older patients. As I understand it the sticking point is that this drug has a possibility of causing liver damage. If it was to get approved it would probably have to be a spinal injection like Spinraza so that it could get straight to the motor neurons and not necessarily have to pass through the liver and cause possible damage. Apparently infant liver is not as susceptible to this damage as it would be for older patients. I’ve not heard anything recently about them expanding it to older patients. If they ever do offer it to patients my age I might consider it considering it would be just a one time event.
Option 3 Evrysdi a.k.a. Risdiplam
In August 2020 (this month as I’m writing this) the FDA has approved a new drug called Evrysdi which is the new brand name for a drug we have previously been calling Risdiplam. It is an oral treatment that works the same way as Spinraza in that it makes the SMN2 gene work better. It is mixed as a liquid that you can drink or take via a G-tube daily. The idea that you don’t need to have an outpatient procedure to stick a needle in your spine makes it very appealing. In fact I have already decided that I will be looking into taking this treatment assuming that Medicare/Medicaid will approve it. The approval is only a few days old as I’m writing this update so it is still full of uncertainties about things like price and insurance coverage. In all likelihood it will be expensive on the same order as Spinraza.
One of the listed side effects is that it can likely cause birth defects in pregnant women and infertility in men. At age 65 with no wife or girlfriend this is a nonissue for me. But already in the Facebook forums parents of kids with SMA are debating whether or not Evrysdi is appropriate for their kids if it means ruining their chance at having children. There is speculation that you would temporarily go off the drug when trying to conceive but I haven’t read anything official that indicates that the possibility. The websites mentioned that you might want to collect and freeze semen for future use before taking the drug. So I’m sure that will be a big topic for further debate.
Here is the link to an article about Evrysdi and its new approval by the FDA.
There was a recent article linked here https://smanewstoday.com/2018/07/23/motor-neuron-death-sma-linked-abnormal-rna-editing-study/ It explains why the motor neurons die off when they don’t have enough SMN protein. It has to do with the regulation of 2 other proteins called Mdm2 and Mdm4. If they could find a treatment that would regulate these other proteins then you can keep the motor neurons from dying without fixing the SMN problem itself.
There is also a lot of talk about using stem cells to regrow the dead motor neurons. None of the available treatment options can repair the damaged motor neurons. That’s one of the reasons that none of these options will do me a lot of good behind slowing or stopping further deterioration. Regrowing nerve cells from stem cells has been the goal of all sorts of spinal cord injury treatments. To date that has not come even close to working. Christopher Reeve expected to be walking in 10 years after his spinal cord injury and it didn’t happen. He died years ago waiting on it to happen any day and people are still waiting.
Additional Thoughts
The outlook for some like me really isn’t a whole lot brighter given these treatment options. Having lived with the disease for 65 years I’ve probably lost the vast majority of my motor neurons and short of some sort of stem cell regenerative treatment that’s not going to change. The best that these new treatments can do for me and other older patients is to slow down or perhaps stop the progression of the disease. As I mentioned before, if these treatments had been available when I was 20 something or younger I would’ve been jumping on immediately no questions asked.
I have to revisit the issue of selective in vitro implantation and abortion in the light of these new treatment options. The kids who have been treated at a very early age (less than 12 months) are showing amazing results. Some kids who have gotten early treatment are basically exhibiting no effects from the disease and are progressing completely normally. It’s my hope is that parents who are considering selective implantation of in vitro embryos and possible termination will consider that the outlook for their kids is not quite as bleak as it once was.
What Do You Want to Know?
Those who know me, know how long-winded I am and if you made it this far then I’ve proved that reputation. But there are a million other questions we could answer. What do you want to know about SMA? About my life with SMA? Don’t hold back anything. If we are going to create awareness then let’s create some full awareness. I would rather you not respond to comments on this blog but ask me your questions on Facebook where I’m going to post the link to this article. You can read my page on Facebook even if you are not a Facebook member. Or if you are a member you can follow me without friending me. Or go ahead and friend me. Find me at https://www.facebook.com/cyborg5
I mean it when I say ask me anything. It is EXTREMELY UNLIKELY you can offend me. (Never say never). There is a slim chance I will choose not to answer something personal. But there is a much greater risk that I will answer your question in very much more detail than you ever really wanted. So ask me anything but beware you might get an encyclopedia worth in reply. If it is a long answer I may make another blog out and it. If it’s a quickie I will just answer on Facebook.
Recently a famous YouTuber named Shaun Burcaw also has SMA Type 2 posted a video titled “Things You Should NEVER Say To A Disabled Person”. I agreed with about 95% of what he had to say but I felt compelled to make my own reaction video to address additional issues about the things upon which we agreed and to outline my feelings about the issues where we disagreed. And as I said above, I’ve got pretty thick skin and its almost impossible to offend me. So don’t let that video scare you away from talking to me or asking questions. Here’s a link.
More Resources
Cure SMA -– Charitable organization that funds research and supports families
I’m also a member of five or six Facebook groups for families or patients with SMA. They are closed groups that I can get you links to request membership on request.
12/27/2016 7:30 AM 
