So this morning I'm filled with sadness, a bit of anger, and still a sense of purpose. A few weeks ago I got what was, in my little world, a devastating result for Gwenn's neuropsych testing: permanent brain damage. But today everything is moved into perspective quickly with the results that one of my best friends, Lorna, received on the health of her daughter, Penelope.
Penny was also adopted from China, and since coming to the US has had numerous issues with her health - starting with a funny limp when she came home at two. At first there were unusual ideas of what occured - polio in China (confirmed), in uetero stroke (not), hemiplegia (nope) and many others. But in the last year a new diagnosis was floated around: mitochondrial disease.
I didn't know much about mito when Lorna first told me about it, but what I learned let me know that it was no good. Well, today Lorna got the news that she was expecting, but still not ready for - that Penelope has a very serious form of the disease. Actually, of all the scenarios, it was the worst case.
So I've been wondering - between this news and what I had heard about Gwenn - why these kiddos are so often ill, and is it worth it. It hasn't taken long to answer the last questions, hell yes, it's worth it. There are so many kids who need homes, and all are worth it. I'm not sure if I'm going to make a difference, but for one child, it is an impact and a life-changing event.
I don't think it's because the Chinese, or any other country, treat their kids in institutions badly. I think it's just that kids don't belong in institutions. They don't get the touch and attention that they so badly need in order to thrive, not just survive. So often these kids come, and their brains haven't developed. They can't form attachments correctly, since they were never held. They may have medical issues that led to their being abandoned, or simply were abandoned due to the one child policy, pressure for a girl or a "perfect" child. The one thing I've learned in life is that there is no perfect child, no perfect adult - and it's our differences and faults that make us what we are.
I'm sure I'll write more later, but I still need to digest this latest news.
Showing posts with label lorna. Show all posts
Showing posts with label lorna. Show all posts
Thursday, January 31, 2008
Wednesday, October 10, 2007
More info on Mito
My friend Lorna posted this on her site, and it is very interesting...
This information is pulled from http://www.k12academics.com/mito.htm
Mitochondrial diseases are a group of progressive metabolic, often neurological, disorders that result from defects in the mitochondria, which are in almost every type of cell in the body. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. Mitochondrial failure results in energy deprivation within the cells. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the affected person's life is severely compromised. The disease primarily affects children, but adult onset is becoming increasingly common. Diseases of the mitochondria appear to cause the most damage to organs requiring high energy levels including: brain, heart, liver, skeletal muscles, kidney, eyes, and the endocrine and respiratory systems.
Mitochondrial disorders are notorious for not following a set pattern. It is not uncommon for patients to first be misdiagnosed with another disorder. Symptoms can begin at any age. 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, autism, and susceptibility to infection.
Mitochondrial disorders are not always physiologically obvious. Intelligence can range from gifted to profoundly retarded. Children with fewer affected mitochondria may be mislabeled as lazy, uncooperative, or underachievers. At the beginning of the school day, for example, they may appear energetic and focused. But as the day progresses, their small reserve of energy evaporates and they are unable to complete the same tasks as their classmates. These children may also be labeled as mildly retarded because of their slowness, when in reality they may be merely fatigued.
There is no one identifying feature of mitochondrial disease. Patients can have combinations of problems whose onset may occur from before birth to late adult life. Typically, the earlier the onset of symptoms, the more severe the disease. Symptoms can be progressive and may include, but are not limited to, combinations of the following: seizures, developmental delay, regression, movement disorders, migraines, strokes, cardiac problems, hearing deficit, eye muscle dysfunction and visual loss, diabetes, GI problems, temperature irregularities, fatigue, failure to gain weight, mental retardation, autism, behavior problems, and dementia. Siblings with the same defect can have differing levels and types of symptoms.
Treatment and Mortality
At present, there are no cures for mitochondrial disorders and no truly effective treatments. The goals of current treatments are: to alleviate symptoms, and to slow down the progression of the disease.
General therapies often include supplements such as CoQ10 and vitamin "cocktails" which may enhance enzyme activity within the mitochondria, and act as antioxidants. Effectiveness of such treatments is largely anecdotal, noticeably helping some and not others. As a rule, those with mild disorders tend to respond better than those with severe disorders. While effectiveness may not be definable, these treatments may delay the progression of the disorder.
Prescription medications may also be necessary to control such symptoms as seizures, heart irregularities, and secondary diabetes. Physical therapy, speech therapy, and other types of therapies may also be utilized.
Some typical considerations regarding treatment of mitochondrial patients include the following:
• Standard therapies for specific symptoms may be necessary.
• Dietary - some mitochondrial patients may be on strict diets; others may not. Avoidance of fasting is critical; small, frequent meals may be necessary. Patients with GI and swallowing difficulties may require gastric tube feedings.
• Vitamins and supplements are usually prescribed.
• Treatments must be tailored to the individual, often resulting from trial and error by the physician.
• Avoidance of physiologic (external) stress factors. Those with autonomic symptoms (inability to control involuntary functions such as temperature control and heart rate) may require a more controlled temperature environment. Over- or under-heating may trigger a medical crisis.
• Avoidance of exposure to illness - even minor acute illnesses, such as colds, may cause a medical emergency, resulting in hospitalization.
Mitochondrial disorders are generally progressive and may be fatal. However, due to the individuality of symptoms and the differences in specific mitochondrial disorders, it is sometimes difficult even for physicians to predict a prognosis. Some patients live into adulthood. However, earlier and more severe symptoms generally result in a shorter life span.
This information is pulled from http://www.k12academics.com/mito.htm
Mitochondrial diseases are a group of progressive metabolic, often neurological, disorders that result from defects in the mitochondria, which are in almost every type of cell in the body. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. Mitochondrial failure results in energy deprivation within the cells. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the affected person's life is severely compromised. The disease primarily affects children, but adult onset is becoming increasingly common. Diseases of the mitochondria appear to cause the most damage to organs requiring high energy levels including: brain, heart, liver, skeletal muscles, kidney, eyes, and the endocrine and respiratory systems.
Mitochondrial disorders are notorious for not following a set pattern. It is not uncommon for patients to first be misdiagnosed with another disorder. Symptoms can begin at any age. 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, autism, and susceptibility to infection.
Mitochondrial disorders are not always physiologically obvious. Intelligence can range from gifted to profoundly retarded. Children with fewer affected mitochondria may be mislabeled as lazy, uncooperative, or underachievers. At the beginning of the school day, for example, they may appear energetic and focused. But as the day progresses, their small reserve of energy evaporates and they are unable to complete the same tasks as their classmates. These children may also be labeled as mildly retarded because of their slowness, when in reality they may be merely fatigued.
There is no one identifying feature of mitochondrial disease. Patients can have combinations of problems whose onset may occur from before birth to late adult life. Typically, the earlier the onset of symptoms, the more severe the disease. Symptoms can be progressive and may include, but are not limited to, combinations of the following: seizures, developmental delay, regression, movement disorders, migraines, strokes, cardiac problems, hearing deficit, eye muscle dysfunction and visual loss, diabetes, GI problems, temperature irregularities, fatigue, failure to gain weight, mental retardation, autism, behavior problems, and dementia. Siblings with the same defect can have differing levels and types of symptoms.
Treatment and Mortality
At present, there are no cures for mitochondrial disorders and no truly effective treatments. The goals of current treatments are: to alleviate symptoms, and to slow down the progression of the disease.
General therapies often include supplements such as CoQ10 and vitamin "cocktails" which may enhance enzyme activity within the mitochondria, and act as antioxidants. Effectiveness of such treatments is largely anecdotal, noticeably helping some and not others. As a rule, those with mild disorders tend to respond better than those with severe disorders. While effectiveness may not be definable, these treatments may delay the progression of the disorder.
Prescription medications may also be necessary to control such symptoms as seizures, heart irregularities, and secondary diabetes. Physical therapy, speech therapy, and other types of therapies may also be utilized.
Some typical considerations regarding treatment of mitochondrial patients include the following:
• Standard therapies for specific symptoms may be necessary.
• Dietary - some mitochondrial patients may be on strict diets; others may not. Avoidance of fasting is critical; small, frequent meals may be necessary. Patients with GI and swallowing difficulties may require gastric tube feedings.
• Vitamins and supplements are usually prescribed.
• Treatments must be tailored to the individual, often resulting from trial and error by the physician.
• Avoidance of physiologic (external) stress factors. Those with autonomic symptoms (inability to control involuntary functions such as temperature control and heart rate) may require a more controlled temperature environment. Over- or under-heating may trigger a medical crisis.
• Avoidance of exposure to illness - even minor acute illnesses, such as colds, may cause a medical emergency, resulting in hospitalization.
Mitochondrial disorders are generally progressive and may be fatal. However, due to the individuality of symptoms and the differences in specific mitochondrial disorders, it is sometimes difficult even for physicians to predict a prognosis. Some patients live into adulthood. However, earlier and more severe symptoms generally result in a shorter life span.
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