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SURVIVING A METABOLIC DISORDER
jsamantha
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Baby Matthew was born with a Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency as diagnose from the results of his Newborn Screening (NBS), barely a day old when he was transferred to the Neonatal Intensive Care Unit of the hospital. After a week, he had two blood transfusions and several diagnostic tests. He went home a month after he was born, then back again at the hospital after a month.
Until his NBS result was out, Matthew has a metabolic disorder, G6PD Deficiency, knowing this was a big help to his parents and doctors. His skin was so pale, his tummy was big, greenish eyes, very thin arms and legs, no body would ever think he would live to see his first birthday. Having this disorder means there are foods and chemicals that Matthew should not be exposed to. However he was exposed at the very start through his mother’s medicines. That was why he had to have his fetal blood totally replaced. Having this deficiency means his red blood cells die quickly every time he is exposed to those chemicals. Since all dead red blood cells all wind up in the liver – his very young liver could not handle the job. Even the medicines given to him have to be double checked if it is not harmful to his condition.
Matthew will soon celebrate his birthday. He is a far cry from the sick-looking baby three years ago. His parents knew the miracle was a joint effort of all the people who cared for him. Although sickly-looking, his friends welcomed him at the children’s park. They knew Matthew needs to receive enough sunlight to improve his skin color. His parents take him to the doctor for regular check up. At the onset of a fever or any sign of disease, his parents immediately take him to the doctor.
As Matthew grew, his caretaker would read the ingredients of anything he wants to eat. By the time he could speak, he asks a store clerk, “I cannot take soy and menthol, can I have this?” He could not yet read. But he learned to ask before he eats. In that way he stays safe and away from hospitals.
Matthew is just one of the many children who are born with a metabolic disorder. They will grow but not outlive that disorder. Some parents never know their kids are born with the disorder for some symptoms never show, until it’s too late. Doctors will have to run a series of test before they can make a diagnosis. But those tests need not happen if the child underwent newborn screening tests. It is the process of testing newborn babies for the presences of treatable genetic, endocrinologic, metabolic and hematologic diseases. The first test which was on phenylketonuria was pioneered abroad by Robert Guthrie late in the sixties.
Knowing what they are born with helps in planning how these kids can be healthy and lead productive lives. G6PD Deficiency is just one of those metabolic disorders that NBS can detect. There’s also Congenital Hypothyroidism(CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia (GAL), and Phenylketonuria (PKU).
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Posted Jan 7, 2012, 11:20 pm
Brady43Williams
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[code]Beautiful !! Thank You very much.

I need to get up to speed with SQL for sure...

Thanks,
Cables

Posted Jan 11, 2012, 2:05 pm Last edited Jan 11, 2012, 2:07 pm by Brady43Williams
Lester65Rodriguez
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That was why he had to have his fetal blood totally replaced. Having this deficiency means his red blood cells die quickly every time he is exposed to those chemicals.

Thanks,
Jobst Relief

Posted Jan 13, 2012, 3:57 pm Last edited Jan 13, 2012, 3:57 pm by Lester65Rodriguez
mrgeorge
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Yes,I need to get up to speed with SQL for surely working so much

Posted Jan 17, 2012, 1:33 pm
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