As a kid growing up in the 70's, we didn't have the 24 hour access to Cartoon Network or Nickelodeon that kids today have. Instead, when we got to watch a cartoon at any other time than a Saturday Morning, it was a real treat. That was the case whenever they would air one of the Peanuts specials.
Although my personal favorite (and probably that of most 6 year olds of that time frame) was Snoopy, one of the most memorable characters on the show was one that you never even got to see. Their teacher would make appearances on the show, but only with her voice. And, as we remember, it wasn't really a voice. It was more of a "wah waaaaah waaaah wah" sound, but we always could recognize it, and it was extremely funny at the time and in the context.
As my hepatologist left the exam room, he brought in a person that he introduced as my transplant coordinator. Although I'm sure that much of the information that was given to me by her and the staff for the rest of the meeting was informative and helpful, all I could hear was "wah waaah waah wah wah". This was the first time that I had this experience, but later bouts with encephalopathy caused it more and more often (although for physiological rather than emotional causes)! Needless to say, these times weren't nearly as entertaining as hearing it for the first time as a 6 year old. I'll give more details of what led to more and more of those moments as my story progresses...
Wednesday, November 25, 2009
Please keep your hands and feet inside the ride at all times.
I'm sure that most of us can remember that feeling from the first time we rode a roller coaster. For one reason or another, we felt that it was something we needed to do -- Whether it be showing off your bravery for friends, siblings, parents, the opposite sex, or just to prove something to yourself. But when you got to the top of that first really big hill, you could only think of one thing... "What in the world am I doing here????"
It was almost exactly that feeling that I was experiencing the morning of the appointment. I knew that something simply had to be going on, I just didn't really know what it was. But one thing was certain... There was no turning back now. All I could do was follow the safety instructions given by the 16 year old kid operating the coaster, and simply try to hang on without losing my lunch.
The hepatologist soon walked into the examination room, introduced himself, and sat down to discuss things with me. How was I feeling? What brought me to Henry Ford? And before long, the answer to the question that was running through my mind since the prior day was finally answered.
"I've looked at your history, and calculated your MELD score. We think that it is about time to list you for a transplant."
This brought to mind several things. First, what the hell is a MELD score? And second, what is the "list" all about? But these two questions paled in comparison to my immediate reaction to the news... Was it the "cure" that I had hoped for? Or was it, as my lung Doctor refers to it, simply trading one chronic condition for another? Should I be happy, upset, angry, or all of the above? As it turns out, I just ended up simply feeling numb. It would be quite some time until I could truly process the information that he had just given me, and that his staff was about to walk me through. Call it denial, or whatever you like. I just knew that I couldn't really feel anything.
It was almost exactly that feeling that I was experiencing the morning of the appointment. I knew that something simply had to be going on, I just didn't really know what it was. But one thing was certain... There was no turning back now. All I could do was follow the safety instructions given by the 16 year old kid operating the coaster, and simply try to hang on without losing my lunch.
The hepatologist soon walked into the examination room, introduced himself, and sat down to discuss things with me. How was I feeling? What brought me to Henry Ford? And before long, the answer to the question that was running through my mind since the prior day was finally answered.
"I've looked at your history, and calculated your MELD score. We think that it is about time to list you for a transplant."
This brought to mind several things. First, what the hell is a MELD score? And second, what is the "list" all about? But these two questions paled in comparison to my immediate reaction to the news... Was it the "cure" that I had hoped for? Or was it, as my lung Doctor refers to it, simply trading one chronic condition for another? Should I be happy, upset, angry, or all of the above? As it turns out, I just ended up simply feeling numb. It would be quite some time until I could truly process the information that he had just given me, and that his staff was about to walk me through. Call it denial, or whatever you like. I just knew that I couldn't really feel anything.
Can you meet the Doctor downtown instead?
I knew that I could not sever the relationship that I had built with my lung Doctor -- I was certain that I would never find anyone that was a better fit, no matter how long and hard I searched. However, I also knew that I had to begin the process of meeting a new hepatologist, and searching out a new primary care Doctor that could work within Henry Ford's system.
The day for the first meeting with the hepatologist was fast approaching, and now sat just two days away. Although his practice was based out of their main campus location downtown, I had scheduled the meeting at his GI practice location in Novi, a suburb near my home and office. As I pondered what the future held for this new system, I received the phone call that would permanently change the course of my treatment. It was his nurse calling, from the Novi location. After introducing herself, she asked me the following:
"Can you meet the Doctor downtown instead?"
Again, my heart began to race, and my mind was swimming with all of the possible causes for the change of location. As I began to regain my composure, I asked her why the meeting was to be moved. Her answer was "just because he has more staff available downtown than here."
Was that all there was to it? Simply a personnel issue? Or was there more to the story that they wanted to tell me in person? Although I hadn't been sleeping well up until this point, it was even worse that night, as I awaited the meeting that was now scheduled for the following day.
The day for the first meeting with the hepatologist was fast approaching, and now sat just two days away. Although his practice was based out of their main campus location downtown, I had scheduled the meeting at his GI practice location in Novi, a suburb near my home and office. As I pondered what the future held for this new system, I received the phone call that would permanently change the course of my treatment. It was his nurse calling, from the Novi location. After introducing herself, she asked me the following:
"Can you meet the Doctor downtown instead?"
Again, my heart began to race, and my mind was swimming with all of the possible causes for the change of location. As I began to regain my composure, I asked her why the meeting was to be moved. Her answer was "just because he has more staff available downtown than here."
Was that all there was to it? Simply a personnel issue? Or was there more to the story that they wanted to tell me in person? Although I hadn't been sleeping well up until this point, it was even worse that night, as I awaited the meeting that was now scheduled for the following day.
Lung Doc? Check. Liver Doc? Check. Now what?
So, with a diagnosis confirmed by specialists, I brought the results back to my primary care Doctor. You remember him, right? The Doctor with the heart of gold, but no real understanding of the disease. After much conversation with my wife, we finally decided that I would continue to see him as a primary care Doctor. We knew that down deep, he had my best interests at heart. Now, with a team in place for him to delegate those issues toward, I knew that I had to give him a chance.
One of the funny parts about being diagnosed with a disease like this is that your mind can really begin to wreak havoc on your life. Not in any physical way (at least not at that point), but rather the emotional side of things. Any small ache or pain would leave my head and heart racing: Did this have anything to do with my liver? Is it getting worse? Even the most normal, temporary muscle pain that I wouldn't have given 5 seconds to a few months earlier, suddenly seemed like the end of my world.
It is for this reason that I began to have issues with the team that I had assembled. Blood draws done by my primary care Doctor were entered into his system (he practices out of a different hospital), but never made it out of his office and to where they needed to be at U-M. Using a football analogy, what I really needed was a head coach. He would be responsible for the big picture, every day type items. Diagnosing small issues and recognizing when they were really larger issues that had to be dealt with by a position coach (in this case, the lung or liver specialist). Basically, treat what you are capable of doing, but when it goes beyond your level of specific expertise, recognize it and, above all else, DELEGATE!
When it became clear that my primary care Doctor could not play that sort of role, I knew that I had to make a change. My wife and I went back and forth with the staff at U-M, looking for any local primary care Doctor that they trusted to do what I needed, and was within their system, so that they could view test results without unneccesary delays. After several attempts, lost time, wasted effort, and significant frustration, I was at the end of my rope. It was then that I reconsidered my original choice, and scheduled a meeting with a hepatologist from Henry Ford.
One of the funny parts about being diagnosed with a disease like this is that your mind can really begin to wreak havoc on your life. Not in any physical way (at least not at that point), but rather the emotional side of things. Any small ache or pain would leave my head and heart racing: Did this have anything to do with my liver? Is it getting worse? Even the most normal, temporary muscle pain that I wouldn't have given 5 seconds to a few months earlier, suddenly seemed like the end of my world.
It is for this reason that I began to have issues with the team that I had assembled. Blood draws done by my primary care Doctor were entered into his system (he practices out of a different hospital), but never made it out of his office and to where they needed to be at U-M. Using a football analogy, what I really needed was a head coach. He would be responsible for the big picture, every day type items. Diagnosing small issues and recognizing when they were really larger issues that had to be dealt with by a position coach (in this case, the lung or liver specialist). Basically, treat what you are capable of doing, but when it goes beyond your level of specific expertise, recognize it and, above all else, DELEGATE!
When it became clear that my primary care Doctor could not play that sort of role, I knew that I had to make a change. My wife and I went back and forth with the staff at U-M, looking for any local primary care Doctor that they trusted to do what I needed, and was within their system, so that they could view test results without unneccesary delays. After several attempts, lost time, wasted effort, and significant frustration, I was at the end of my rope. It was then that I reconsidered my original choice, and scheduled a meeting with a hepatologist from Henry Ford.
Enough with the genetics lesson. What about my kids?
Well, now that we fully understood the genetic makeup, we awaited the results from MUSC. It turns out (thankfully) that my wife was a MM (the "normal" genotype), so the kids are automatically MZ -- No chance of them being anything else. Therefore, I have less to worry about in terms of the testing being part of their medical record. However, we have had a hypothetical conversation with their doctor, and asked her to help with the same types of precautions that any lung or liver affected alpha may take -- more aggressively approaching lung infections, vaccinations, smoke avoidance, etc...
However, the genotype is only half the battle. Given that it is a Co-Dominant gene, you can be an MZ and still have levels of A1AT in your bloodstream that are well within normal ranges. Or, you could have levels that come close to those with the ZZ genotype. Therefore, it is vital to have family members tested for the following:
1. Genotype (eg. MM, MZ, SZ -- This one contains the even more rare allele, the "S" Allele, ZZ)
2. If the genotype is anything other than MM, A1AT levels should be tested.
3. Again, if the genotype is anything other than MM, Liver function tests should be tested and monitored.
Unfortunately, as my experience has shown, there are many primary care Doctors that have no idea as to the existence of A1AT, much less the need for you and your family to be tested. In this regard, we are our own best advocate when it comes to health care. Do not be afraid to ask questions, or suggest possibilities if you suspect something. It could very well save your life, or the life of someone around you!
However, the genotype is only half the battle. Given that it is a Co-Dominant gene, you can be an MZ and still have levels of A1AT in your bloodstream that are well within normal ranges. Or, you could have levels that come close to those with the ZZ genotype. Therefore, it is vital to have family members tested for the following:
1. Genotype (eg. MM, MZ, SZ -- This one contains the even more rare allele, the "S" Allele, ZZ)
2. If the genotype is anything other than MM, A1AT levels should be tested.
3. Again, if the genotype is anything other than MM, Liver function tests should be tested and monitored.
Unfortunately, as my experience has shown, there are many primary care Doctors that have no idea as to the existence of A1AT, much less the need for you and your family to be tested. In this regard, we are our own best advocate when it comes to health care. Do not be afraid to ask questions, or suggest possibilities if you suspect something. It could very well save your life, or the life of someone around you!
In the words of Lee Corso... Not so fast, my friend!
Turns out that there was a real flaw to our logic.
As we later learned from my pulmonologist, the genetic structure of A1AT was not the simple dominant-recessive relationship that we all recall. It is instead, what is referred to as a Co-Dominant gene.
What does that mean? Well, let's take the example of brown eyes or blue eyes. If the genetics were a simple dominant-recessive relationship, and A is brown eyes (dominant) and B is blue eyes (recessive), then two parents, one with AA, and one with BB, will each contribute one allele, leaving their offspring to be AB. Since the A is the dominant allele, the offsprings eyes will be brown. They will be a carrier of the B allele, meaning that the offspring's children, or further down the family tree, still have a chance to inherit the two recessive alleles necessary to have blue eyes (BB).
On the other hand, A1AT is Co-dominant. That means that BOTH alleles contribute to the makeup of the offspring. It isn't necessarily a 50-50 split (sometimes 60-40, sometimes 40-60, etc...) but a combination of the two regardless. Hence, using our example, the AB offspring would have some combination of the blue and brown color in their eyes.
As we later learned from my pulmonologist, the genetic structure of A1AT was not the simple dominant-recessive relationship that we all recall. It is instead, what is referred to as a Co-Dominant gene.
What does that mean? Well, let's take the example of brown eyes or blue eyes. If the genetics were a simple dominant-recessive relationship, and A is brown eyes (dominant) and B is blue eyes (recessive), then two parents, one with AA, and one with BB, will each contribute one allele, leaving their offspring to be AB. Since the A is the dominant allele, the offsprings eyes will be brown. They will be a carrier of the B allele, meaning that the offspring's children, or further down the family tree, still have a chance to inherit the two recessive alleles necessary to have blue eyes (BB).
On the other hand, A1AT is Co-dominant. That means that BOTH alleles contribute to the makeup of the offspring. It isn't necessarily a 50-50 split (sometimes 60-40, sometimes 40-60, etc...) but a combination of the two regardless. Hence, using our example, the AB offspring would have some combination of the blue and brown color in their eyes.
Hold everything... I haven't even thought about my family yet!
The entire procedure thus far had been such a whirlwind, that I hadn't really given as much thought as I should have to the genetics involved. As I now realize, the gene that causes A1AD is even more common than the one that causes cystic fibrosis... And yet very, very few of us have heard of it.
When I started thinking about the genetics of the disease, I was drawn back to the basic high school genetics lesson -- the dominant gene and the recessive gene. Since I was a ZZ, it was clear that I would give my two kids the Z allele. But what would they have received from my wife? And how did I get them tested without harming their ability to obtain health insurance, life insurance, or perhaps even employment when they grew up?
You see, our medical community is reaching new levels of understanding our bodies every day, and our society and legislators can't really keep up. So the fear is this: If a person is pre-disposed to having a genetic disease (for example, a ZZ Alpha), but have no symptoms, can a life insurance company deny them coverage? After years of work, the Congress had passed (and the President had signed) a new law referred to as GINA (The Genetic Information Non-disclosure Act). However, until many years pass, and the inevitable challenges of the law are decided on by the courts, nothing is really set. Because of this, I knew that the kids had to be tested... But I still didn't know how?
I received information regarding a confidential testing program done at the Medical University of South Carolina (MUSC). They would test for the disease anonymously and give us the information back directly. So, we sent away for a kit, and my wife sent her test back in to them. Our thought was this: If, by some miracle, my wife was an MM (the "normal" alleles), then our kids would be MZs. By the lessons that we recalled above, an MZ would make them carriers of the disease, but without symptoms, right?
Of course, it can't be quite that easy!
When I started thinking about the genetics of the disease, I was drawn back to the basic high school genetics lesson -- the dominant gene and the recessive gene. Since I was a ZZ, it was clear that I would give my two kids the Z allele. But what would they have received from my wife? And how did I get them tested without harming their ability to obtain health insurance, life insurance, or perhaps even employment when they grew up?
You see, our medical community is reaching new levels of understanding our bodies every day, and our society and legislators can't really keep up. So the fear is this: If a person is pre-disposed to having a genetic disease (for example, a ZZ Alpha), but have no symptoms, can a life insurance company deny them coverage? After years of work, the Congress had passed (and the President had signed) a new law referred to as GINA (The Genetic Information Non-disclosure Act). However, until many years pass, and the inevitable challenges of the law are decided on by the courts, nothing is really set. Because of this, I knew that the kids had to be tested... But I still didn't know how?
I received information regarding a confidential testing program done at the Medical University of South Carolina (MUSC). They would test for the disease anonymously and give us the information back directly. So, we sent away for a kit, and my wife sent her test back in to them. Our thought was this: If, by some miracle, my wife was an MM (the "normal" alleles), then our kids would be MZs. By the lessons that we recalled above, an MZ would make them carriers of the disease, but without symptoms, right?
Of course, it can't be quite that easy!
Next stop: The hepatologist!
With an extremely positive experience, as well as a great prognosis, in hand from my lung Doctor, I knew my next step. The U-M hepatologist awaited... And I certainly had a feeling that the news would not be quite as positive from him.
Meeting the hepatologist was, in some ways, less stressful than my pulmonologist. Clearly, he had a tough act to follow in terms of both bedside manner as well as demonstrating his capabilities and awareness of the ins and outs of A1AT. Another Doctor once described giving a speech after my pulmonologist as akin to "coming to the plate right after Lou Gehrig."
With all of that being said, the U-M hepatologist certainly had a good working knowledge of the disease, and came across as very caring and compassionate. He scheduled me for a liver biopsy to confirm the diagnosis, and gave me his best estimate on the progression of the disease. However, even he admitted that this disease is pretty unpredictable, and that the best thing to do was watch my weight and carefully follow the blood work. The only "cure" at this point was a likely liver transplant -- the question was simply when?
While this news was not all of that different from what I had received in the past, I felt much better receiving it from someone who seemed to know much more about the disease. In addition, there were several other steps that I could take: Flu shots, Pneumonia vaccination, total avoidance of alcohol, and, when truly necessary to have any pain relievers, Tylenol instead of Motrin.
Then came the discussion that I hadn't really thought about yet, but that hasn't left my mind since -- And it probably never will.
Meeting the hepatologist was, in some ways, less stressful than my pulmonologist. Clearly, he had a tough act to follow in terms of both bedside manner as well as demonstrating his capabilities and awareness of the ins and outs of A1AT. Another Doctor once described giving a speech after my pulmonologist as akin to "coming to the plate right after Lou Gehrig."
With all of that being said, the U-M hepatologist certainly had a good working knowledge of the disease, and came across as very caring and compassionate. He scheduled me for a liver biopsy to confirm the diagnosis, and gave me his best estimate on the progression of the disease. However, even he admitted that this disease is pretty unpredictable, and that the best thing to do was watch my weight and carefully follow the blood work. The only "cure" at this point was a likely liver transplant -- the question was simply when?
While this news was not all of that different from what I had received in the past, I felt much better receiving it from someone who seemed to know much more about the disease. In addition, there were several other steps that I could take: Flu shots, Pneumonia vaccination, total avoidance of alcohol, and, when truly necessary to have any pain relievers, Tylenol instead of Motrin.
Then came the discussion that I hadn't really thought about yet, but that hasn't left my mind since -- And it probably never will.
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