Today I had a lunch I will never forget. A friend, Dr. Chen, had mentioned to me about a family with a son who has Pompe disease. He asked me to call them, since they had no friends or relatives in Durham. So I did and offered to help them in any way possible. Although they never asked anything of me, the father has been so nice, each time he visits (since he has to work in Cali) he calls and asks if I can meet to eat. Last time I was sick so I couldn't go, and this time I went.
Here's a description from this site:
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What is Pompe Disease?
Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. Also known as infantile acid maltase deficiency and type 2 glycogen storage disease, Pompe disease is estimated to occur in about 1 in 40,000 births.
Pompe disease has three forms defined by age of onset and progression of symptoms:
Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.
Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm, and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life.
Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations
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I was deeply moved today, because I saw the best that can be brought out of human beings even in perhaps the worst of times, that is, unconditional love. The child, I should say baby, who has the disease is probably around 1 years old or less. I could see the difficulty he had with breathing, and he had to have an oxygen tube inserted to aid his breathing. Initially when the parents came, they thought this baby had no chance. I saw the way his parents, especially his father, tried to make the best of the situation, and the love I could see in their eyes for this child, really touched me. His father mentioned that he had always heard of these things happening to others, but it never really mattered. Then it struck home. They do have an older son, who is completely normal. But this child is definitely something, as I could sense he was strong, despite the illness. His parents told me that most babies with this disease have trouble even smiling, much less moving their arms or legs. Yet he was able to do these, and managed a brief smile for me, a complete stranger. I was touched. I learned several valuable lessons today. Unconditional love is the highest form humans can achieve, and we must all find a way to get there---to love something or someone unconditionally. And coincidences, such as the older son's favourite sport being baseball and favourite team the Oakland A's, which was the team I grew up watching since I always visited my uncle in Cali in summers, and sincerely offered help can lead to friendships that are true. I could feel how the father was really grateful for my single phone call, and of course, his eternal thanks to Dr. Chen for providing a way that is working to save his son's life.
I want to keep in touch with them. I want to watch this child grow up, and of course I know he will never be like most of us, as he'll need enzyme shots every two weeks, but he will be a unique human being, one who has already managed to touch and change so many.
Here's a description from this site:
*****
What is Pompe Disease?
Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. Also known as infantile acid maltase deficiency and type 2 glycogen storage disease, Pompe disease is estimated to occur in about 1 in 40,000 births.
Pompe disease has three forms defined by age of onset and progression of symptoms:
Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.
Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm, and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life.
Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations
*****
I was deeply moved today, because I saw the best that can be brought out of human beings even in perhaps the worst of times, that is, unconditional love. The child, I should say baby, who has the disease is probably around 1 years old or less. I could see the difficulty he had with breathing, and he had to have an oxygen tube inserted to aid his breathing. Initially when the parents came, they thought this baby had no chance. I saw the way his parents, especially his father, tried to make the best of the situation, and the love I could see in their eyes for this child, really touched me. His father mentioned that he had always heard of these things happening to others, but it never really mattered. Then it struck home. They do have an older son, who is completely normal. But this child is definitely something, as I could sense he was strong, despite the illness. His parents told me that most babies with this disease have trouble even smiling, much less moving their arms or legs. Yet he was able to do these, and managed a brief smile for me, a complete stranger. I was touched. I learned several valuable lessons today. Unconditional love is the highest form humans can achieve, and we must all find a way to get there---to love something or someone unconditionally. And coincidences, such as the older son's favourite sport being baseball and favourite team the Oakland A's, which was the team I grew up watching since I always visited my uncle in Cali in summers, and sincerely offered help can lead to friendships that are true. I could feel how the father was really grateful for my single phone call, and of course, his eternal thanks to Dr. Chen for providing a way that is working to save his son's life.
I want to keep in touch with them. I want to watch this child grow up, and of course I know he will never be like most of us, as he'll need enzyme shots every two weeks, but he will be a unique human being, one who has already managed to touch and change so many.
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