Case Study – a Sickeningly Sweet Baby Boy

Topics: Allele, Zygosity, Phenylketonuria Pages: 9 (3183 words) Published: May 24, 2013
Case Study – A Sickeningly Sweet Baby Boy

Part I Questions
1. What additional information would you want to know to understand Emma and Jacob’s panic? To understand the cause of the panic that was brought to Jacob and Emma, you would need to know more about the state of the baby. This article just describes that the boy was having difficulty feeding, and after seven days he stopped feeding. This isn’t a situation that brings upon panic right away, but for Emma and Jacob it did. The panic was partly because they had already had a child that died from unknown reasons in the first nine days of his life, and didn’t want to lose another. The state of the current baby, such as if it was premature, or if it was very sick looking and small, or it’s behavioural patterns could mean that the issue of him not feeding could be much more serious. However, if the baby seemed normal and was progressively gaining weight, and behaviour was normal, there shouldn’t be as much panic from the parents. 2. What is meant by “failure to thrive”?

Failure to thrive means that the child is unable to grow and gain weight at normal rates that other children do, and is due to a number of causes. The child may end up with mental retardation, and physical, mental and social skills may all be affected in the child who is failing to thrive. The child could go through periods and relapses of states of failure to thrive if it is emotionally derived, but usually not if it is medically derived. It isn’t very common, only 1% of children admitted to any hospital have failure to thrive, and between 3 to 5% of children admitted to children specific hospitals have failure to thrive in the United States. 3. What are some reasons why newborns fail to thrive?

The cause of the child failing to thrive is genetically caused a lot of the time. It could be from chromosome problems (Down syndrome or Turner syndrome), organ issues, thyroid, growth or other hormone deficiencies, CNS or brain damage leading to feeding difficulties in infants, gastrointestinal diseases (cleft palate or lip, hepatitis, malabsorption, and more), kidney disease or failure, heart and lung disease (asthma, cystic fibrosis, etc.), infectious disease (HIV, tuberculosis, etc.), anemia or other blood disorders and more. There are also emotional or physical causes that lead to failure to thrive, including emotional deprivation, poverty, exposure to diseases or infections, poor eating habits, and problems with child-caregiver relationships. To determine if the child is failing to thrive, doctors will conduct tests and exams, including a physical exam of height, weight and body shape. Family history will be questioned due to large amount of genetic disorders leading to failure to thrive in the child. Tests such as a complete blood count (CBC), electrolyte balance, hemoglobin electrophoresis to test for diseases such as sickle cell disease, hormone and thyroid function tests to determine hormone deficiencies that may be the cause, x-rays for bone age analysis, and urinalysis may be conducted to determine failure to thrive in children. Other medical conditions must be diagnosed and hopefully treated before the child’s failure to thrive declines. 80% of children with failure to thrive have non-organic type, which most commonly occurs with lack of food and nutrient intake, or lack of environmental stimuli. 4. What do you think the smell is?

I think the smell has to do with a deficiency or defect in the gastrointestinal system, changing the composition, and therefore smell, of the baby’s urine/feces. If the kidneys are not functioning properly, or enzymes and proteins are not being properly absorbed, the body will not be able to survive normally, and may cause other side effects as well. The inability to breakdown or absorb certain things in food can also cause chemical build-up in the blood leading to the damage of other organs. This could be a symptom of a recessive disease that both...

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Frey, R.J., PhD. (2008) Maple Syrup Urine Disease. Health and Wellness Resource Centre: The Gale Encyclopedia of Medicine. Retrieved 15 January 2013 from
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Liver Transplantation (n.d.) The University of Chicago Medicine. Retrieved 15 January 2013 from
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