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DiGeorge Syndrome

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DiGeorge syndrome is a congenital disorder that is present at birth. Its major cause is a deletion within chromosome number 22q11.2 (Yamagishi, 2002). It occurs during embryo development (Molesky, 2011).There is no known cure for this disorder although the outlook for those stricken with this is not usually bad and can differ widely depending on the degree of defect and the affected organs. Babies with this defect usually lack a part of chromosome 22 and rarely defects in chromosomes 10 (Sullivan, 2002). There maybe no detectable chromosome abnormality in some cases. Medical community has found that this defect is rarely inherited with only 6% while 94% is associated with deletion of the chromosome.

Babies born with the syndrome illustrate different characteristics including facial abnormalities, cleft palate, smaller parathyroid glands, increased white blood cells in thymus gland, learning disabilities and mental retardation, and symptomatic congenital heart defects (Bastian et al., 1989). Patients presenting to pediatric primary clinic show different symptoms with most common including hands and fingers that twitch or have cramp like spasms of the arms, failure to thrive poor weight gain, diaper rash, diarrhea, long face, among other (Yamagishi, 2002). HPI common include pneumonia, hypernasal, speech, and recurrent infections secondary to immune deficiency. PMH common include Tetrology of Fallot, pulmonary regurgitation as they get older, vascular anomalies of carotid arteries (Sullivan, 2002).

Even though there is no cure for this syndrome, an advanced practice nurse may recommend a combination of blood test and chest X-ray if they suspect that a child is suffering from DiGeorge syndrome (Farrell et al, 1999). Initially, fluorescent in situ hybridization (FISH) was used for confirmation to detect 22q11.2 in conjunction with a standard chromosome analysis to detect chromosome arrangements and other abnormalities but array comparative genomic hybridization is used currently (Seroogy, 2012). Therapy depends on each individual patient and age of diagnosis (Bawle, 2010).

These concepts have been summarized by Ernestine Wiedenbach’s Prescriptive Theory which states that nursing primarily consists of identifying patients and their families’ needs for help and intervene if need and facilitating and/or implementing a medical plan of care based on the needs and desires of the patient and family (Molesky, 2011). In improving care, a nurse exercises a sound judgment through deliberative, practiced, and educated recognition of symptoms. APN use their clinical judgment to decide the possible implications of symptoms and create a list of differential diagnosis (Tomey & Aligood, 2002). They use their skills to implement a diagnostic work-up as accurate as possible to create a diagnosis and implement a plan of care. They are also aware of their selves and appreciate how their personal perspectives affect the care given to the patient. 

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