Down on Life...
I'm going through a really tough time with my (ha, ha) health.
Health is just a generic word, not implying good or bad, but let's face it, there is little to recommend me physically. I'm apparently a genetic disaster and it is hard to know where the main problem turns other things into problems, or if I'm just that physically screwed up.
Most people know I have muscular dystrophy (to be specific, I have dystrophia myotonia 2, or PROMM), but they don't realise how debilitating this can be. I smile, put a good face on it and assure people that it can't kill me. For the most part, that is true. It really won't kill me. However, it can and has already put a damper on living.
Most of the time I'm okay with it, but sometimes I get very depressed by it. Not suicidal or anything extreme, and who wouldn't get depressed with this? I have a slow-acting Sword of Damocles hanging over my head. Some times it just... gets me down.
To give a basic explanation of this, Wikipedia reads "Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by wasting of the muscles (muscular dystrophy), posterior subcapsular iridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset decreases with successive generations. Thus the disease shows at an earlier age in successive generations, a phenomenon termed anticipation. There are two classifications of DM, each having different associated symptoms."
The better news is the difference between DM1 and DM2: "Differences between DM1 and DM2
While both diseases are considered slow degenerative conditions, DM2 is considered to be generally milder than DM1.
The severe congenital form that affects babies in DM1 has not been found in DM2 and the early onset of symptoms is rarely noted to appear in younger patients in the medical literature.
The repeat expansion for DM2 is considerably larger than for DM1, ranging from 75 to over 11,000.
Unlike DM1, the size of the repeated DNA expansion does not appear to make a difference in the age of onset or disease severity in DM2.
Anticipation is a common feature of DM1. It appears to be less significant in type 2 and most current reviews only report mild anticipation as a feature of DM2.
Symptoms
Presentation of symptoms varies considerably by form (DM1/DM2), severity and even unusual DM2 phenotypes. DM1 patients often present with myotonia, disabling distal weakness and severe cognitive problems. DM2 patients commonly present with muscle pain, stiffness, fatigue, or the development of proximal lower extremity weakness (Day & al, 2003). The characteristic pattern of weakness is different for DM1 and DM2: In DM1, it is noted in face and jaw muscles, the drooping of the eyelids (ptosis), weakness of the neck muscles, hands and lower legs. In DM2, the weakness is more evident in proximal muscles, those closer to the trunk of the body: neck, shoulders, hip flexors and upper legs.
Noted DM1 symptoms which are considered less severe or common for DM2 are problems with smooth muscle (including G.I. symptoms), hypersomnia (daytime sleepiness), muscle wasting, dysphagia and respiratory insufficiency. DM1 patients may experience a more diverse range of cognitive problems than DM2. Depending on what form they have and the degree of severity, DM1 cognitive problems may range from developmental delays, learning problems, language, speech, behaviour, apathy or hypersomnia. Cognitive manifestations for DM2 include problems with executive function (i.e. organization, concentration, word-finding etc) and hypersomnia. Conduction abnormalities are more common in DM1 than DM2, but all patients are advised to have an annual ECG. Insulin resistance is a significant risk factor in both forms of the disease for diabetes, cholesterol, heart, stroke, lipids, fatty liver, etc.
Testing for insulin resistance must be at least 3 hours and include serial monitoring of the lipid profile and intermittent assessment of oral glucose tolerance testing as per the report from the 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management (2006) Diabetes type 2 is suspected of being more common in DM2 than in DM1. Generally far fewer DM2 patients require assistive devices (canes, walkers, wheelchairs, scooters) than in DM1, though they experience increasing difficulties climbing stairs as the disease progresses, and falling or stumbling may sometimes be reported."
It's all there. I constantly fall or trip, I sometimes walk as though intoxicated when I get tired (good thing I don't drink or I'd really have a problem!), and it's all the muscles close to my body that have the hallmark weakening. And I'm a sugar-junkie who needs to stop eating all that sugar thanks to the increased chance of becoming diabetic.
On the plus side, I don't have cognitive disabilities - my speech is fine, my vocabulary very broad, and there were no developmental problems or delays. I'm not hypersomnial, but I can't sleep at all without pharmaceutical assistance. I suppose that is better than having trouble staying awake during the day...
Right now I'm sick. Being sick for most people stinks, but for me it is aggravating - and I don't mean aggravating to me. It aggravates the disease and so I have to fight a battle on two fronts: the illness and the disease and its now-overexaggerated problems. When a normal person gets muscle aches from a fever, it is tiring and they may experience discomfort. When I have aches from fever, I am writhing in agony. And at the moment, I'm running a temperature again. Really gruesome.
If I seem down about it now more, it is having whatever infection that I am fighting that makes it so. I'll get better and be my usual ingratiating, happy self.
I worry, though, about my future. I don't know if I will end up in a wheelchair or not. It seems that few DM2 patients end up going down that road. That is very reasurring. But I won't be able to be an EMT forever... at the moment, my goal is to make it to the status of life member, which is ten years of active riding. I will complete my sixth year in March. This is a bit of a race. Right now I will tell you that my butt, legs and hips won't unlock, and I don't know if I can ride at all. But in a couple of days I may be fine again and will feel good.
My professional life is a whole different thing. There are no real demands on me physically and yet, it is not always easy to do what I do. Sometimes I have trouble making it up the stairs. Sometimes I don't leave my office because I have trouble with my balance. I feel uncomfortable often walking around. I know I have a funny gait. But I love what I do and want to keep doing it. It scares me that this disease can do this to me.
So I have spilled my guts about this and gotten it out. Maybe this will help.
Health is just a generic word, not implying good or bad, but let's face it, there is little to recommend me physically. I'm apparently a genetic disaster and it is hard to know where the main problem turns other things into problems, or if I'm just that physically screwed up.
Most people know I have muscular dystrophy (to be specific, I have dystrophia myotonia 2, or PROMM), but they don't realise how debilitating this can be. I smile, put a good face on it and assure people that it can't kill me. For the most part, that is true. It really won't kill me. However, it can and has already put a damper on living.
Most of the time I'm okay with it, but sometimes I get very depressed by it. Not suicidal or anything extreme, and who wouldn't get depressed with this? I have a slow-acting Sword of Damocles hanging over my head. Some times it just... gets me down.
To give a basic explanation of this, Wikipedia reads "Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by wasting of the muscles (muscular dystrophy), posterior subcapsular iridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset decreases with successive generations. Thus the disease shows at an earlier age in successive generations, a phenomenon termed anticipation. There are two classifications of DM, each having different associated symptoms."
The better news is the difference between DM1 and DM2: "Differences between DM1 and DM2
While both diseases are considered slow degenerative conditions, DM2 is considered to be generally milder than DM1.
The severe congenital form that affects babies in DM1 has not been found in DM2 and the early onset of symptoms is rarely noted to appear in younger patients in the medical literature.
The repeat expansion for DM2 is considerably larger than for DM1, ranging from 75 to over 11,000.
Unlike DM1, the size of the repeated DNA expansion does not appear to make a difference in the age of onset or disease severity in DM2.
Anticipation is a common feature of DM1. It appears to be less significant in type 2 and most current reviews only report mild anticipation as a feature of DM2.
Symptoms
Presentation of symptoms varies considerably by form (DM1/DM2), severity and even unusual DM2 phenotypes. DM1 patients often present with myotonia, disabling distal weakness and severe cognitive problems. DM2 patients commonly present with muscle pain, stiffness, fatigue, or the development of proximal lower extremity weakness (Day & al, 2003). The characteristic pattern of weakness is different for DM1 and DM2: In DM1, it is noted in face and jaw muscles, the drooping of the eyelids (ptosis), weakness of the neck muscles, hands and lower legs. In DM2, the weakness is more evident in proximal muscles, those closer to the trunk of the body: neck, shoulders, hip flexors and upper legs.
Noted DM1 symptoms which are considered less severe or common for DM2 are problems with smooth muscle (including G.I. symptoms), hypersomnia (daytime sleepiness), muscle wasting, dysphagia and respiratory insufficiency. DM1 patients may experience a more diverse range of cognitive problems than DM2. Depending on what form they have and the degree of severity, DM1 cognitive problems may range from developmental delays, learning problems, language, speech, behaviour, apathy or hypersomnia. Cognitive manifestations for DM2 include problems with executive function (i.e. organization, concentration, word-finding etc) and hypersomnia. Conduction abnormalities are more common in DM1 than DM2, but all patients are advised to have an annual ECG. Insulin resistance is a significant risk factor in both forms of the disease for diabetes, cholesterol, heart, stroke, lipids, fatty liver, etc.
Testing for insulin resistance must be at least 3 hours and include serial monitoring of the lipid profile and intermittent assessment of oral glucose tolerance testing as per the report from the 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management (2006) Diabetes type 2 is suspected of being more common in DM2 than in DM1. Generally far fewer DM2 patients require assistive devices (canes, walkers, wheelchairs, scooters) than in DM1, though they experience increasing difficulties climbing stairs as the disease progresses, and falling or stumbling may sometimes be reported."
It's all there. I constantly fall or trip, I sometimes walk as though intoxicated when I get tired (good thing I don't drink or I'd really have a problem!), and it's all the muscles close to my body that have the hallmark weakening. And I'm a sugar-junkie who needs to stop eating all that sugar thanks to the increased chance of becoming diabetic.
On the plus side, I don't have cognitive disabilities - my speech is fine, my vocabulary very broad, and there were no developmental problems or delays. I'm not hypersomnial, but I can't sleep at all without pharmaceutical assistance. I suppose that is better than having trouble staying awake during the day...
Right now I'm sick. Being sick for most people stinks, but for me it is aggravating - and I don't mean aggravating to me. It aggravates the disease and so I have to fight a battle on two fronts: the illness and the disease and its now-overexaggerated problems. When a normal person gets muscle aches from a fever, it is tiring and they may experience discomfort. When I have aches from fever, I am writhing in agony. And at the moment, I'm running a temperature again. Really gruesome.
If I seem down about it now more, it is having whatever infection that I am fighting that makes it so. I'll get better and be my usual ingratiating, happy self.
I worry, though, about my future. I don't know if I will end up in a wheelchair or not. It seems that few DM2 patients end up going down that road. That is very reasurring. But I won't be able to be an EMT forever... at the moment, my goal is to make it to the status of life member, which is ten years of active riding. I will complete my sixth year in March. This is a bit of a race. Right now I will tell you that my butt, legs and hips won't unlock, and I don't know if I can ride at all. But in a couple of days I may be fine again and will feel good.
My professional life is a whole different thing. There are no real demands on me physically and yet, it is not always easy to do what I do. Sometimes I have trouble making it up the stairs. Sometimes I don't leave my office because I have trouble with my balance. I feel uncomfortable often walking around. I know I have a funny gait. But I love what I do and want to keep doing it. It scares me that this disease can do this to me.
So I have spilled my guts about this and gotten it out. Maybe this will help.
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