Pathophysiology I NUR3126
Helping a Family Cope with Down Syndrome
In a country like Bosnia, which has been recovering from the damaging effects of a tumultuous past, when its people and homeland were ripped apart by displacement, genocide, and ethnic cleansing, it is difficult to imagine raising a child from the ashes of those fires burning not so long ago. To add insult to injury, imagine giving birth to a special needs baby and realizing that the infant will need more than just the typical roof over its head and food on the table. A Down Syndrome baby will need a lifelong commitment from parents, family, and a recovering community in order to live a healthy life of fulfillment and stability.
Pathophysiology and Manifestations of Down Syndrome
It is so difficult for any parent to hear that their child is not perfect or normal and often, at first, they require time to grieve about that dream child they expected to see at birth (Wright, 2015, p. 10). Once they have a had a chance to accept the reality, it is time to give them the tools they can use to cope, grow, and live with a child affected with Down syndrome. Aside from bonding with their baby, knowledge is the first and most valuable tool parents need to have when it comes to understanding the journey on which they are about to embark with their new baby. The nurse should prepare a sit-down meeting with the parents to educate them about what Down Syndrome is and how it will affect their baby throughout the developmental process. The nurse can supply handouts, books, and supplementals that include the following information:
In 1866, John Langon Down was the first person to define Down syndrome, also known as Trisomy 21, as a genetic disorder that causes mental deficiencies and affects the physical appearance of those affected (Porth, 2015, p. 117). Down syndrome occurs in 1 out of every 691 births in the United States and is considered to be the most common genetic birth defect (Porth, 2015, p.117). However, in Bosnia, 1 in every 564 births results in a Trisomy 21 birth defect; this means that this birth defect is about 25% more likely in Bosnia than in the United States (Sumanovic-Glamuzina, et al., 2014, p. 46).
Trisomy 21 is theoretically linked to advanced maternal age. By the time a woman reaches the age of 45 she is 16 times more likely to give birth to a child with Down syndrome than if she were to have a baby at the age of 35 (Porth, 2015, p.117). The theory behind the age related genetic mutation is that the womans eggs, present at her birth, have aged with her and thus have been subjected to more environmental factors, such as radiation (Porth, 2015, p.117).
Down syndrome is thought to occur during the reproductive stage of meiosis, when one cell splits into two and the chromosomes are split in half (Porth, 2015, p.117). During this time, chromosomes can experience disjunction; that is, the chromosomes do not split evenly from 46 to 23 chromosomes (Porth, 2015, p.117)...
