It's been an amazing two years of my life. Most importantly, in the middle of it all I have found my true soulmate. Rachel and I met on Match.com and our lives have merged into a fun, furry adventure.
Our family of four-legged friends has only recently become smaller, as Carlie and Loni crossed the Rainbow Bridge a couple of months ago. Loni went first and I think Carlie missed her sister enough to finally stop fighting cancer...although it really didn't seem like she paid much attention to Loni at all!
In between their passing, Rachel and I got engaged and this Halloween we will tie the knot (you saw that one coming if you know us in the least).
Life wouldn't be worth living if it were all this easy; September marks the sixth month of being a "Medical Mystery." If you are reading this, it is most likely because we are Facebook friends. As a Facebook friend, you have no doubt seen me refer to this phrase many times over the last couple of years. Most recently, I'm referring to the last five months of medical testing I have undergone in search of an answer.
In January while carrying some books down our spiral staircase, I turned my ankle. As told by my most recent surgeon (hemicolectomy: 2009), I have an abnormally high tolerance for pain and this allowed for me to walk on a broken foot for a couple of days before I called it quits and had it looked at. I took my green foot down to the local urgent care center and was put in a wrap and stabilizing shoe. I was referred to Dr. Steve Stanton, a podiatrist, for aftercare.
That bruising and hairline break took about two months to heal. I've broken the following: thumb, ankle, elbow, radius and ulna. None of these took that long to heal except for my radius which was broken at the most distal part of my arm at the wrist. This was a little weird to me, but hey...I'm not 20 anymore and can't expect to bounce back so quickly anymore. Dr. Stanton decided to then open a can of worms and talk to me about something he thought was weird to him - the size of my calf muscles. He took out a tape-measure and measured my calves around the fattest part: 11 inches. I still remember his response...
"Lee, I don't mean to sound like an asshole...but your legs are the size of a child's."
I chuckled and let him know that I had noticed that as well. In fact, over the last half of the decade I had noticed a loss of muscle strength and mass, balance and energy when it came to walking, biking, boxing, jumping, drumming, etc. As far back as 2005 I realized I could no longer stand on my toes, or do calf exercises that were not aided by negative weight. I've been a "tripper" for a long while now and developed a limp as well. When asked about it, I just let people know that I broke my ankle when I was young and it never healed quite right. I wasn't lying, I believed this.
Why did I wait so long to look into this? No pain. In fact, the least painful tattoo I have had inked is on my left calf muscle. Without Dr. Stanton's "tactful" attention to my presentation, I probably would have let this go for another five years. NO PAIN. From what I've been told by my doctors in the past, my pain level of ONE (on the smiley face scale of one to ten - one being the least amount of pain and ten being the worst pain you have ever felt in your life) is equivalent to everyone else's FIVE. What I've learned about my tolerance is that I'll feel pain when it is at a FIVE and then it's damn near impossible to control it after that. So I go from a FIVE to an EIGHT and there is seemingly no in between. Pain management, as I'm learning is very trial and error.
Dr. Stanton is a really nice guy and although he's surely complicated my life by being a doctor that actually cares, I can't thank him enough for the path he has put me on. He had been seeing me for about three months before suggesting that I might have Charcot-Marie-Tooth disease. This is a usually hereditary peripheral neuropathy. For you non-neurobio graduates, symptoms include: numbness and muscle wasting in the extremities - most commonly feet and lower legs. This is most noticeable with my own case, as I tend to do a "dance" when trying to stand in one place. Without calf muscles with any strength at all, balance is a serious issue. It does not affect life-expectancy. It does make life a bit of a pain in the ass (as well as the above mentioned body parts).
In retrospect, this explains so much. Plenty of us feel "achy" when it's about to rain. I've felt very achy for a long while, and we all know it's not raining in Texas! It explains the tripping on nothing, the fact that my hips hurt all the time and the fact that I wear out very quickly when it comes to walking. CMT changes the way you walk and the shape of your feet. As it progresses, it can begin affecting the muscles in the neck and head (this is noticeable to me) and in severe cases can affect fine muscle movements in the eyes and hands (my stamina for playing guitar and drums has decreased a LOT).
All of this being said, I still haven't been diagnosed with CMT. I HAVE been the subject of a LOT of testing. Dr. Stanton brought in an EMG (electromyogram) tech/neurologist to shock me and shove needles in my muscles.
An EMG measures the electrical activity of muscles at rest and during contraction. Nerve conduction studies measure how well and how fast the nerves can send electrical signals. The results were weird enough that I was referred out to a well-known neurologist at one of the 8,000 Memorial Hermann hospitals in Houston.
Dr. Alan Rubin looks a lot like Dr. Oz, so it's somewhat entertaining when I go see him. I half expect him to start talking to me about my poop when I'm in his office, but we usually stick to the issues at hand. My first visit to him was memorable enough - after waiting about an hour to finally be called in to see him, we met in his office. The walls are adorned with awards and magazines profiling his accomplishments. We talked for a bit and then we began his battery of neurological exams. This included following his finger through the air and repeating some words back to him. Then we began muscle tests. He asked me to stand on my toes and heels. No dice. He placed his hand underneath my feet and asked me to push his hand away. No luck. He held my hands closed around my thumb and pinky and asked me to open them. Not so much. I present muscle weakness in the distal extremities, very noticeable in the lower legs and feet, not as noticeable in the wrists and hands BUT it's there. We talk family history and I let him know that skinny legs run on my Mom's side of the family. Some of her aunts and uncles had skinny legs and some used walking sticks later in life, but they held their own and continued to work on their ranches into their 80's. That being said, Dr. Rubin let me know that this disease does not have a cure. It does not have an "accepted" means of treatment and figuring out how to deal with it is going to take time. He suggested I look into the Muscular Dystrophy Association and find out how I can take advantage of their services.
This all seemed really drastic to me. He said that most people with CMT develop "drop-foot" and it causes random tripping (check). AFO's (ankle-foot orthotics) are used by most to aid with this. Some of the most severe cases require corrective surgeries for hip-dysplasia (my hips hurt ALL the time because of how my gait has changed because of this) and foot deformities (this starts as hammer-toes and really high arches - some of my toes in fact have started to turn into "claw" shapes and although being born flat-footed, I now have somewhat high arches and have invested in custom orthotic inserts for my shoes).
Some people's balance becomes so bad that they would rather use a wheelchair than brave life on their feet. Hmm...here we go. He ordered a panel of tests, one of which being a screening for CMT. There is a company in America that is considered to be the authority on genetic testing - Athena Diagnostics. I asked it would be covered by my insurance? Dr. Rubin said he hoped so, "Otherwise, you're SOL." Thank you University of Texas System, for your amazing insurance. I know I never got sick from ages 22-29, I'm sure you were thankful. I'm more than making up for it now.
Some people's balance becomes so bad that they would rather use a wheelchair than brave life on their feet. Hmm...here we go. He ordered a panel of tests, one of which being a screening for CMT. There is a company in America that is considered to be the authority on genetic testing - Athena Diagnostics. I asked it would be covered by my insurance? Dr. Rubin said he hoped so, "Otherwise, you're SOL." Thank you University of Texas System, for your amazing insurance. I know I never got sick from ages 22-29, I'm sure you were thankful. I'm more than making up for it now.
While I waited six weeks for the results of the CMT testing I spent a bit of time on the internet. WebMD can be your friend or it can be debilitating. I found it to be helpful, but only to the extent that it reaffirmed what Drs. Stanton and Rubin had already told me. I then began looking into other people's cases of CMT. Of course, the range of cases ran the gamut. When children are born with it, many undergo multiple surgeries before their teenage years. When it is slow and progressive, it tends to be much more depressing to the afflicted. You know your life to be one thing for 20-30 years and then a diagnosis changes everything. One of the saddest cases was of a man in NYC who has started a photoblog. His photos depicted something more severe than a lot of the scientific pictures will show you; they showed his despair. Pictures of his feet in Doc Martens strapped to his wheelchair, calloused hands and fingers from pushing himself along...and his lonely silhouette at the top of a flight of stairs. At that point, I had read enough.
I had prepared my family for the coming diagnosis and living with disease is nothing we are strangers to. My mother was diagnosed with an auto-immune disease when I was a junior in high school and has had her ups and downs. Mostly downs...but it has taught me about resiliency. I made the joke that God gave us good looks and smarts (Mom was valedictorian in HS and graduated from college in 2.5 years) but screwed us a bit with these weird diseases. She agreed, but I know she felt bad about passing on this stuff to me. I assured her everything would be alright and we would deal the way we've always dealt.
Rachel took the day off from work so she could support me that particular morning and we had breakfast tacos from our favorite place down the street. Dr. Rubin was much more prompt this time around and when we sat in his office we braced for the news. "Well, I was wrong. You don't have CMT.
Everything we tested you for came back normal. You don't show indicators of diabetes, you don't have any STDs, you don't have hepatitis despite all the tattoos (flashes a smile to lighten the mood)" We then proceeded to the neuromuscular tests where everything was the same. Legs are shot, hands and wrists are weaker than they should be. He then refers me to a neuromuscular specialist in the UT Physicians group.
Man-oh-man. Time to start all over.
At this point, I'm about as tired of all the "I don't know"s as I am tired from writing this blog. Sitting in one place for too long makes my feet burn. It makes my legs throb and my left hip is start to sing a bit. My neck is about a FOUR on the pain scale. If you forgot that I don't feel anything until a FIVE, you are forgiven. This blog entry could have easily been ten entries. If you are still with me...I pity you. It's Friday night and you should be out having fun. Anywho...
Enter Dr. Kazim Sheikh. Actually, Enter someone else. Dr. Patel took my initial history and after about 25 minutes of that, I started waiting again. Dr. Sheikh comes in and we go over everything I told Dr. Patel and then some. Turns out one of his specialties is the autoimmune disease family that my Mom has. That piques his interest. I do the equivalent of a sobriety test and we find out that I can't walk one-foot-in-front-of-the-other without almost falling down. Remind me to never have another drink away from the house. I guess I could always flash THIS. In addition, he has me close my eyes and stand with my feet together. This shows the extreme weakness of my lower legs and feet. I tell people, when they ask why I now walk with a cane..."Walking on my legs is like walking on stilts. Walking isn't nearly as problematic as standing still." My feet are always shifting, trying to find stability. My toes curl towards the ground to help...but within a couple of seconds I feel like I have to open my eyes and spread my feet apart.
Dr. Sheikh tells me he still thinks it is most likely CMT. The genetic testing tests for ~20 markers, but more are known. Rachel's former boss' father has CMT and went misdiagnosed for years. I'm not looking forward to years of uncertainty. In my head, I've accepted the fact that I have it. Dr. Sheikh signs me up for more testing. Let's rule out Diabetes, heavy metal poisoning (insert joke about the fact that I'm a metalhead here), HIV, syphilis, vitamin deficiencies - anything else that could cause nerve damage. Diabetes...wow. Diabetes could cause ALL of this. If it's Diabetes, I can manage it...I can hopefully keep it from getting worse. It is not very often you will speak to someone who WISHES they had Diabetes.
The last testing for this round included another EMG study. I show up and am greeted by my Swedish EMG tech and then meet another neurologist. Dr. Athar introduces herself and asks if it's OK that a Fellow sits in on the session. As a former EMT, I recognize the importance of teaching future doctors and health care professionals. I've never minded working with PA's so I felt good about being able to help a neurologist in training. As we get going, they notice how extremely cold my feet and legs are. They are so cold, in fact, that we are unable to get decent readings on the nerve conduction tests. I then proceeded to laugh in my head as I watched a neurologist with an education of such stellar quality fill up a bowl of hot water and bathe my foot in it. That provided us with about two minutes of usable data. She then used a hairdryer to warm my feet.
With the nerve conduction tests showing results similar to my previous sitting, we then move on to shoving electrodes down inside my muscles. Mind you, I have about 15 hours worth of tattoos on my body. This is a little more than average, and far below the level of an enthusiast. That being said, this is the most unpleasant part of any testing I have ever been subject to. The difference this time around is that this doctor is being VERY THOROUGH. We are spending a lot of time in each muscle and I am asked to flex and hold those muscles in position while readings are taken. They turn up the speakers to reveal that the muscles are making a loud hissing, white-noise-like rumble. This is abnormal. This is abnormal enough that Dr. Athar leaves the room. She then returns with two more Fellows. I've always been told I was an interesting guy, but this solidifies it in the annals of neurological history.
The observations are so abnormal that we move past the lower legs to my quads, hamstrings, hips, lumbar region, forearms, wrists and hands. This goes on for 2.5 hours. This has become so painful that I have begun to tear up and I am very short with them when being asked to facilitate their testing. The Fellows are like robots; they don't acknowledge my humanity and stare at me like I'm a caged animal. In all honesty, I was ready to punch every single one of them in the face. Bedside manner isn't easily taught, so unfortunately some patient down the line is going to feel exactly how I felt that day. Dr. Athar apologizes to me for the discomfort and assures me that if I am able to continue, the testing will give us a better idea of what is going on. "Do what you have to do. I have to work after this."
When we are finally finished, I sit up and ask them what it all means.
So when you see my canes,
know that I don't feel like dancing around to stand in place. I also haven't wrapped my brain around the fact that I have a prescription from the doctor for the above mentioned AFO's. I'm not ready for braces on my legs. Hopefully my orthotic inserts can correct my walk enough that I can stave off that concession for a while longer. Feel free to ask me about what's going on, it's cathartic to speak it into the world. I have moments of sadness and I allow myself to be scared every once in a while. But I have an amazing family, and I'm looking forward to so many things.
Everything we tested you for came back normal. You don't show indicators of diabetes, you don't have any STDs, you don't have hepatitis despite all the tattoos (flashes a smile to lighten the mood)" We then proceeded to the neuromuscular tests where everything was the same. Legs are shot, hands and wrists are weaker than they should be. He then refers me to a neuromuscular specialist in the UT Physicians group.
Man-oh-man. Time to start all over.
At this point, I'm about as tired of all the "I don't know"s as I am tired from writing this blog. Sitting in one place for too long makes my feet burn. It makes my legs throb and my left hip is start to sing a bit. My neck is about a FOUR on the pain scale. If you forgot that I don't feel anything until a FIVE, you are forgiven. This blog entry could have easily been ten entries. If you are still with me...I pity you. It's Friday night and you should be out having fun. Anywho...
Enter Dr. Kazim Sheikh. Actually, Enter someone else. Dr. Patel took my initial history and after about 25 minutes of that, I started waiting again. Dr. Sheikh comes in and we go over everything I told Dr. Patel and then some. Turns out one of his specialties is the autoimmune disease family that my Mom has. That piques his interest. I do the equivalent of a sobriety test and we find out that I can't walk one-foot-in-front-of-the-other without almost falling down. Remind me to never have another drink away from the house. I guess I could always flash THIS. In addition, he has me close my eyes and stand with my feet together. This shows the extreme weakness of my lower legs and feet. I tell people, when they ask why I now walk with a cane..."Walking on my legs is like walking on stilts. Walking isn't nearly as problematic as standing still." My feet are always shifting, trying to find stability. My toes curl towards the ground to help...but within a couple of seconds I feel like I have to open my eyes and spread my feet apart.
Dr. Sheikh tells me he still thinks it is most likely CMT. The genetic testing tests for ~20 markers, but more are known. Rachel's former boss' father has CMT and went misdiagnosed for years. I'm not looking forward to years of uncertainty. In my head, I've accepted the fact that I have it. Dr. Sheikh signs me up for more testing. Let's rule out Diabetes, heavy metal poisoning (insert joke about the fact that I'm a metalhead here), HIV, syphilis, vitamin deficiencies - anything else that could cause nerve damage. Diabetes...wow. Diabetes could cause ALL of this. If it's Diabetes, I can manage it...I can hopefully keep it from getting worse. It is not very often you will speak to someone who WISHES they had Diabetes.
The last testing for this round included another EMG study. I show up and am greeted by my Swedish EMG tech and then meet another neurologist. Dr. Athar introduces herself and asks if it's OK that a Fellow sits in on the session. As a former EMT, I recognize the importance of teaching future doctors and health care professionals. I've never minded working with PA's so I felt good about being able to help a neurologist in training. As we get going, they notice how extremely cold my feet and legs are. They are so cold, in fact, that we are unable to get decent readings on the nerve conduction tests. I then proceeded to laugh in my head as I watched a neurologist with an education of such stellar quality fill up a bowl of hot water and bathe my foot in it. That provided us with about two minutes of usable data. She then used a hairdryer to warm my feet.
With the nerve conduction tests showing results similar to my previous sitting, we then move on to shoving electrodes down inside my muscles. Mind you, I have about 15 hours worth of tattoos on my body. This is a little more than average, and far below the level of an enthusiast. That being said, this is the most unpleasant part of any testing I have ever been subject to. The difference this time around is that this doctor is being VERY THOROUGH. We are spending a lot of time in each muscle and I am asked to flex and hold those muscles in position while readings are taken. They turn up the speakers to reveal that the muscles are making a loud hissing, white-noise-like rumble. This is abnormal. This is abnormal enough that Dr. Athar leaves the room. She then returns with two more Fellows. I've always been told I was an interesting guy, but this solidifies it in the annals of neurological history.
The observations are so abnormal that we move past the lower legs to my quads, hamstrings, hips, lumbar region, forearms, wrists and hands. This goes on for 2.5 hours. This has become so painful that I have begun to tear up and I am very short with them when being asked to facilitate their testing. The Fellows are like robots; they don't acknowledge my humanity and stare at me like I'm a caged animal. In all honesty, I was ready to punch every single one of them in the face. Bedside manner isn't easily taught, so unfortunately some patient down the line is going to feel exactly how I felt that day. Dr. Athar apologizes to me for the discomfort and assures me that if I am able to continue, the testing will give us a better idea of what is going on. "Do what you have to do. I have to work after this."
When we are finally finished, I sit up and ask them what it all means.
"We will schedule a follow-up when we have your blood work back. But this testing shows you have significant nerve damage in your lower legs and ankles. You also have nerve damage in your hamstrings, forearms, wrists and hands."
After a while, this all wears you down. The emotional fatigue rivals the physical. It exacerbates it greatly. My mind spins through a good part of the night and I'm now prescribed a slew of medication to help with anxiety, sleeplessness and pain. I've taken great pride in the fact that for 30 years I haven't had to rely on pills of any kind. I've typed this all out because I needed to. Being able to see it all proves to me that it is real. Being a lover of science, I look at Athena's test results and am told that I "most likely" don't have Charcot-Marie-Tooth's disease. I'm not one to usually argue genetic testing. Visiting three neurologists, a podiatrist and my own sense of being tells me I do have it. For now I am diagnosed as: ICD-9-356.9.
know that I don't feel like dancing around to stand in place. I also haven't wrapped my brain around the fact that I have a prescription from the doctor for the above mentioned AFO's. I'm not ready for braces on my legs. Hopefully my orthotic inserts can correct my walk enough that I can stave off that concession for a while longer. Feel free to ask me about what's going on, it's cathartic to speak it into the world. I have moments of sadness and I allow myself to be scared every once in a while. But I have an amazing family, and I'm looking forward to so many things.
Life is wonderful...
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