Sorry for the long break between blogs, but there hasn't been a whole lot to write about. I've been waiting for just over a month to hear from Cleveland Clinic and finally got the call today. Dr. Cohen is not accepting new adult patients, but the co-director, Dr. Parikh, will see me in mid-January. I am pleased that he will see me and that it is earlier than anticipated (originally told March), and hoping that my body settles down until then. I've been having problems with my heart rate being irregular and dropping down to 46-50 bpm for a few hours at a time. When that happens, I get really dizzy and tired and feel like I'm about to pass out, and sometimes a little sharp-pain-in-the-chest just for good measure. Not fun!
In other news, God's provision seems to abound. A few weeks ago, my dad told me one of his bosses' daughter was a geneticist at Duke and she was willing to chat via email about my situation. Dad and I both emailed her and I included a link to this blog. She put 2 and 2 together and realized that...we went to middle school and high school together! I think we may have cheered together in 8th grade. Small world, eh? Not sure what will come of this connection, but just knowing that there is someone out there who is willing to lend her expertise in this area is such a blessing.
Another blessing comes in the form of a recall (doesn't God have a sense of humor??). Our 11 year old van was recalled last week and it will take at least 90 days to get the new parts in. Because of that, Ford is willing to give us a rental car (we'd pay taxes of around $100/month), OR buy back our van for about 60% of what we paid 7 years ago! Hello! I think we'll take the cash, please! We've been "waiting" on that car to die and anticipating that it would happen before Scott graduated, so the thought of being paid cash to go buy a new car is unbelievable. We will still need to use some of our savings, but not nearly as much as we'd planned. What provision!
We also have been so blessed by several friends from church, who have so graciously made meals for us; one family even gave us part of a cow they had purchased (like, a 1/4-cow or something!). The first roast is in the crock-pot as we speak. It is overwhelming to be loved and taken care of at times, my heart is overflowing. Thank you, friends, your time has been impeccable.
Karin
Tuesday, October 26, 2010
Thursday, September 23, 2010
The results are in! Sorta, kinda, maybe...
I went back to the geneticist this morning, and all of my testing is back. It appears as though I have a mitochondrial disease, probably. They say "probably" because it seems I have one that is yet to be pinpointed. Yep, I like to make things difficult. :-) The doctor compared it to having a disease that won't be diagnosed until the next generation. It was really strange, she said, looking at my test results, because one amino acid or something would be normal but then another would be almost zero and they shouldn't be or whatever and it was just so fascinating. It amazes me that anyone who knows anything about the human body could ever NOT believe in God. We are just too intricately created! We talked at length and the bottom line is this is way beyond even what they do, so they are emailing one of the top mitochondrial specialists in the world, Dr. Cohen, who is located at...that's right! Cleveland Clinic! He will look over all of my info and hopefully elect to see me. In the mean time, I will continue to take it easy as needed, since over-doing it is bad for mitochondrial disease, and be thankful that we are finally, maybe, getting answers. For those who want for info on mitochondrial disease, here is info from the United Mitochondrial Disease Foundation:
What is Mitochondrial Disease
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection
Energy Factories and Much More
The conventional teaching in biology and medicine is that mitochondria function only as "energy factories" for the cell. This over-simplification is a mistake which has slowed our progress toward understanding the biology underlying mitochondrial disease. It takes about 3000 genes to make a mitochondrion. Mitochondrial DNA encodes just 37 of these genes; the remaining genes are encoded in the cell nucleus and the resultant proteins are transported to the mitochondria. Only about 3% of the genes necessary to make a mitochondrion (100 of the 3000) are allocated for making ATP. More than 95% (2900 of 3000) are involved with other functions tied to the specialized duties of the differentiated cell in which it resides. These duties change as we develop from embryo to adult, and our tissues grow, mature, and adapt to the postnatal environment. These other, non-ATP-related functions are intimately involved with most of the major metabolic pathways used by a cell to build, break down, and recycle its molecular building blocks. Cells cannot even make the RNA and DNA they need to grow and function with out mitochondria. The building blocks of RNA and DNA are purines and pyrimidines. Mitochondria contain the rate-limiting enzymes for pyrimidine biosynthesis (dihydroorotate dehydrogenase) and home synthesis (d-amino levulinic acid synthetase) required to make hemoglobin. In the liver, mitochondria are specialized to detoxify ammonia in the urea cycle. Mitochondria are also required for cholesterol metabolism, for estrogen and testosterone synthesis, for neurotransmitter metabolism, and for free radical production and detoxification. They do all this in addition to breaking down (oxidizing) the fat, protein, and carbohydrates we eat and drink.
Defining Mitochondrial DiseaseMitochondrial diseases are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Problems with mitochondrial function, however, may only affect certain tissues as a result of factors occurring during development and growth that we do not yet understand. Even when tissue-specific isoforms of mitochondrial proteins are considered, it is difficult to explain the variable patterns of affected organ systems in the mitochondrial disease syndromes seen clinically.
Genocopies of Mitochondrial Disease
Because mitochondria perform so many different functions in different tissues, there are literally hundreds of different mitochondrial diseases. Each disorder produces a spectrum of abnormalities that can be confusing to both patients and physicians in early stages of diagnosis. Because of the complex interplay between the hundreds of genes and cells that must cooperate to keep our metabolic machinery running smoothly, it is a hallmark of mitochondrial diseases that identical mtDNA mutations may not produce identical diseases. Genocopies are diseases that are caused by the same mutation but which may not look the same clinically.
Phenocopies of Mitochondrial Disease
The converse is also true: different mutations in mtDNA and nDNA can lead to the same diseases. In genetics, these are known as phenocopies. A good example is Leigh syndrome, which can be caused by about a dozen different gene defects. Leigh syndrome, originally a neuropathological description of the brain of one affected child, was described by Denis Leigh, the distinguished British physician, in 1951. It is characterized by bilaterally symmetrical MRI abnormalities in the brain stem, cerebellum, and basal ganglia, and often accompanied by elevated lactic acid levels in the blood or cerebrospinal fluid. Leigh syndrome may be caused by the NARP mutation, the MERRF mutation, complex I deficiency, cytochrome oxidase (COX) deficiency, pyruvate dehydrogenase (PDH) deficiency, and other unmapped DNA changes. Not all children with these DNA abnormalities will go on to develop Leigh syndrome, however.
Mitochondrial diseases are even more complex in adults because detectable changes in mtDNA occur as we age and, conversely, the aging process itself may result from deteriorating mitochondrial function. There is a broad spectrum of metabolic, inherited and acquired disorders in adults in which abnormal mitochondrial function has been postulated or demonstrated.
Adapted/selected sections from Robert Naviaux's "Overview, the Spectrum of Mitochondrial Disease" in the Mitochondrial and Metabolic Disorders, Primary Care Physician's Guide, second edition.
What is Mitochondrial Disease
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection
Energy Factories and Much More
The conventional teaching in biology and medicine is that mitochondria function only as "energy factories" for the cell. This over-simplification is a mistake which has slowed our progress toward understanding the biology underlying mitochondrial disease. It takes about 3000 genes to make a mitochondrion. Mitochondrial DNA encodes just 37 of these genes; the remaining genes are encoded in the cell nucleus and the resultant proteins are transported to the mitochondria. Only about 3% of the genes necessary to make a mitochondrion (100 of the 3000) are allocated for making ATP. More than 95% (2900 of 3000) are involved with other functions tied to the specialized duties of the differentiated cell in which it resides. These duties change as we develop from embryo to adult, and our tissues grow, mature, and adapt to the postnatal environment. These other, non-ATP-related functions are intimately involved with most of the major metabolic pathways used by a cell to build, break down, and recycle its molecular building blocks. Cells cannot even make the RNA and DNA they need to grow and function with out mitochondria. The building blocks of RNA and DNA are purines and pyrimidines. Mitochondria contain the rate-limiting enzymes for pyrimidine biosynthesis (dihydroorotate dehydrogenase) and home synthesis (d-amino levulinic acid synthetase) required to make hemoglobin. In the liver, mitochondria are specialized to detoxify ammonia in the urea cycle. Mitochondria are also required for cholesterol metabolism, for estrogen and testosterone synthesis, for neurotransmitter metabolism, and for free radical production and detoxification. They do all this in addition to breaking down (oxidizing) the fat, protein, and carbohydrates we eat and drink.
Defining Mitochondrial DiseaseMitochondrial diseases are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Problems with mitochondrial function, however, may only affect certain tissues as a result of factors occurring during development and growth that we do not yet understand. Even when tissue-specific isoforms of mitochondrial proteins are considered, it is difficult to explain the variable patterns of affected organ systems in the mitochondrial disease syndromes seen clinically.
Genocopies of Mitochondrial Disease
Because mitochondria perform so many different functions in different tissues, there are literally hundreds of different mitochondrial diseases. Each disorder produces a spectrum of abnormalities that can be confusing to both patients and physicians in early stages of diagnosis. Because of the complex interplay between the hundreds of genes and cells that must cooperate to keep our metabolic machinery running smoothly, it is a hallmark of mitochondrial diseases that identical mtDNA mutations may not produce identical diseases. Genocopies are diseases that are caused by the same mutation but which may not look the same clinically.
Phenocopies of Mitochondrial Disease
The converse is also true: different mutations in mtDNA and nDNA can lead to the same diseases. In genetics, these are known as phenocopies. A good example is Leigh syndrome, which can be caused by about a dozen different gene defects. Leigh syndrome, originally a neuropathological description of the brain of one affected child, was described by Denis Leigh, the distinguished British physician, in 1951. It is characterized by bilaterally symmetrical MRI abnormalities in the brain stem, cerebellum, and basal ganglia, and often accompanied by elevated lactic acid levels in the blood or cerebrospinal fluid. Leigh syndrome may be caused by the NARP mutation, the MERRF mutation, complex I deficiency, cytochrome oxidase (COX) deficiency, pyruvate dehydrogenase (PDH) deficiency, and other unmapped DNA changes. Not all children with these DNA abnormalities will go on to develop Leigh syndrome, however.
Mitochondrial diseases are even more complex in adults because detectable changes in mtDNA occur as we age and, conversely, the aging process itself may result from deteriorating mitochondrial function. There is a broad spectrum of metabolic, inherited and acquired disorders in adults in which abnormal mitochondrial function has been postulated or demonstrated.
Adapted/selected sections from Robert Naviaux's "Overview, the Spectrum of Mitochondrial Disease" in the Mitochondrial and Metabolic Disorders, Primary Care Physician's Guide, second edition.
Friday, September 17, 2010
Wrong, again
My chiropractor wasn't convinced my ribs were in the wrong place and ordered x-rays. If you read the title of this post, you've probably figured out that they came back showing that the ribs did not move after all, so they are not what's causing the pain. Which naturally begs the question, "So what's causing the pain?" Great question, still no answer. Anyone tired of that answer yet? Dr. Miller (chiro) thinks (and has for some time now) that something is going on with my internal organs, specifically pancreas and liver but so far nothing is showing up on any of the tests. He is frustrated, my mom says join the club! Ha ha. We did hit the 18 month mark this week, so I see her point. I was really doing well with everything, but tonight is hard. It's hard to be in pain with no answers, coupled with worrying/praying about the Floors who are back at the hospital with a blood clot in Troy's lung. We are praising God that they found the clot and that he is CANCER-FREE, yet it is so hard to see them have to deal with yet another issue. Please, please pray for them this weekend. Blood clots can be serious and we haven't heard anything since they arrived at the hospital. If you think of it, please also pray for my appointments this week. I have SIX appointments this week, with the big ones being neuropsychologist on Monday, geneticist and endocrinologist on Thursday (the rest are minor). Pray for answers of some sort, ANY sort this week, or the strength to bear not knowing anything more and wisdom to figure out where to go from here.
Thursday, September 9, 2010
I'm not sure if I'm to the point of laughing about my situation because its funny all the strange things that can happen to a person and God's giving me a wonderful perspective on our situation, or if I'm losing my mind. Either way, laughter is the theme of the day today. I found out today that not one, but two of my ribs have moved out of alignment. Really? Yes, really! Now, don't get me wrong, this can cause quite a bit of pain, especially when I try to take a deep breath or am in certain positions, but I just have to laugh. This is the "straw that broke the camel's back" in a week of really bad kidney pain that nearly led to the ER (finally discovered that was being caused by one of my meds) and really bad stomach pain that has yet to be diagnosed so we're just going to hang out with some vicodin until the genetic test come back. Or perhaps it is because God has shown me the amazing, generous side of people. We now have twelve dozen ears of corn in our freezer and were told this week to make room for part of a cow that's heading our way later this month thanks to a few friends. What a blessing! We also learned that it will be cheaper for us to stay in our house than to move, and that there might be a job opportunity available for Scott. I know in the last post I said I didn't want him to go back to work, and ideally I don't; but this job would pay for his tuition and he could move into an engineering job when he graduated. We'll see what happens. I mean, ideally, I'd get better and just go back to work myself, but let's be honest things aren't looking good, are they? All in all, God's proven Himself time and again. I have a tendency to get flustered and a little freaked out at times over what the future holds, but I hold tightly to the promises that no matter what, He will be faithful regardless of what the tests show. Two more weeks and hopefully we will know what in the world is going on inside my body.
PS On a VERY happy note: Troy Floor went back to work part-time this week! He is doing well overall; please pray that their family would continue on a path towards good health.
PS On a VERY happy note: Troy Floor went back to work part-time this week! He is doing well overall; please pray that their family would continue on a path towards good health.
Wednesday, August 25, 2010
Hi blog readers! I think you've been praying, for that is the only way I can explain how calmly Scott and I have been able to navigate through this week. It's been a pretty rough one. We found out on Sunday that due to budget cuts our COBRA insurance will actually need to start in October, even though I still hold a teaching contract. Yep, talk about a BIG shock to the system especially after the whole flea incident. Oh, and did I mention I read about that as I was driving to buy a new sweeper because the flea powder killed the other one? Not safe, I know, but I mostly read at stoplights. We are officially in full-fledged, batten-down-the-hatches, don't-spend-a-dime-unless-it's-required mode. We did learn that we can get COBRA for just me for *only* $8,000, which believe it or not is a blessing. That's much better than the $20,000 it is for the whole family. We've talked to a few insurance agents this week to look at plans for the rest of the family and we will go back to school loans for Scott's education (our goal was to not take any more out). We talked about Scott working for insurance purposes only, but we're afraid he'd never finish his degree. We've come so far and sacrificed so much, he NEEDS to get that piece of paper! :-) We are also meeting with our awesome realtor on Friday and considering selling our house. We love our house, but 1) I really need a ranch or at least a master bedroom on the main floor and 2) God has blessed us with awesome budgeting skills, but we can only make disability checks go so far. We aren't so tied to this house as to stay in it and give up on Scott's dream of becoming an engineer. We aren't sure if we will put it on the market or not, it all depends on if it makes financial sense and if we feel that is what God wants us to do. Please pray for wisdom and physical strength. All of the extra work and phone calls this week has taken its toll on me and my body and I are fighting each other. I've got things to do, but it won't let me! On a happy note, Katie and Ryan are having a GREAT year at school so far and we just couldn't be happier! Such a blessing!
Saturday, August 21, 2010
No stinkin' way, seriously?!
This has been some week. It started out with some good old-fashioned worry and stress over finances as we debate/discuss whether or not Scott should look for a job (and therefore drop out of school or only take a few night classes, thus prolonging the school process) because of how expensive COBRA insurance will be if I'm not able to get back to work before March. I'm no longer insurable unless we get health insurance through COBRA (we're talking $18,000/year!) or an employee-sponsored plan. Add in the fun of being videotaped for the upcoming sermon series at church, which I really did not want to do, but felt God was calling me to do and all of the nervousness that goes along with knowing 2500 people would hear what I have to say. Then throw in some added sharp stomach pain as a new symptom (no, not from the previously mentioned stress, unfortunately), plus just our typical life struggles of dealing with this illness then add in some fleas that Scott picked up at camp on Thursday and there is our week. That's right, we now have FLEAS in our house and one of our cars! He was up mowing the camp his parents run while they were on vacation and somehow brought home some little friends. He didn't realize it until he went to pick Ryan up from kdg. the next day (several in the van he'd driven to camp). Needless to say, he's been going to great lengths all weekend to try to get rid of them. He feels so badly about it, and I can't really be around strong chemicals (I have a hard time breathing around regular cleaners!), but we have family in town and we were able to go back and forth between the two houses. Please pray that the fleas are now GONE, for wisdom as we try to discern God's will regarding Scott's school/work/maybe I'll just get better before then?, and patience while waiting for the genetics appointment. Four more weeks seems like an eternity.
Sunday, August 15, 2010
Blood drawn, let's wait some more!
You know it's been a long time between blog posts when you have to go back and read your last posting to see where you left off last. Oops! Sorry about that! Life gets in the way, as you know. The end of summer was a busy time for us, with the kids going to camp and getting ready for school. Ryan started kindergarten this week and Katie started second grade. We are very pleased with their teachers and think it will be a great year for them. I was able to get my blood drawn for all of the labs (20 vials over 2 days), so we are on our way (maybe??) to answers. I did get a few of them back already and found out my lactic acid is low (that's a good thing, might rule out 1-2 of the mito. diseases; only 38 more to go!), my pyruvate level is low (not so good, we think but don't know for sure; think it means the red blood cells in my body are dying faster than they are supposed to) and my carnitine level is high (no clue as to whether that's good or bad). I will "officially" get the results of all of the tests Sept. 23, so we have awhile to wait yet. Yesterday was the 18 month mark of my first hospital stay, the date we use for the start of all of this. I can't believe it has been that long already! When I first go sick, I thought I'd be able to go back to work before the end of that school year. Now here we are with just 6 months to go before my contract will expire and I am just as sick, if not worse, than I was then. I am so blessed that my job is held for so long, and even more so that my student teacher will continue on as my sub, but nevertheless I don't understand why I'm not the one there. Today is a hard day for understanding; I know in my head that I'm not called to understand, but to trust that God has a bigger plan. Right now I don't like His plan very much. So I will throw my little temper tantrum for a few minutes, then give it back to Him. Because He sees the whole picture, and I can only see my little part and I know that He knows what is best for me.
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