A Victim of Downs Syndrome

The story of My research

On his day of birth, the midwife and the Doctor informed his mother that he was suffering from Down's syndrome "your baby has Down's syndrome" and the hell broke loose on her; she stated weeping despite the sustained pain and injuries during birth. With her nursing background, she had "prior information" what it is. From Stray-Gundersen, (17), Down's syndrome is a condition also referred to as trisomy 21. Afterwards, the doctor told the mother "he would need to pay occasional visits to the hospital for checkups" on how he was progressing and the therapies. Out of no option, he had to go to see the doctor at least "twice a year", just for a therapy and evaluation of how he was making headway. He still wondered whether he would have "problems in the future, if the situation were not constrained."

Allen & Cowdery, (56), argues that, this is a chromosomal condition that is due to the presence of an extra or part of the 21^st chromosome in the body. It is a condition named after the founder John Langdon Down, after he described the condition in his Britain laboratory in 1866.This condition was further identified, as 21 trisomy in 1959; by Jerome Lejuene.

The Down's syndrome in a fetus is identifiable with the amniocentesis; the risks of fetal injury and a likeliness of miscarriage, during the pregnancy period or in the baby after the child is born. He was lucky not have "sustained any injuries" as fetus or having been "miscarried". The condition is associated with the presence of an extra copy of genetic material on the 21^st chromosome. This is as either "a whole; referred to as trisomy 21, or part," which is due to the process of translocations.

The extra chromosome effects vary greatly in different victims. This is however dependant on the genetic history and pure chance. The likeliness of Down syndrome is one per 733 of all births, but it was statistically been proven more common with the older parents. This is linked to the mutagenic exposure that these parents' reproductive cells have been subjected to in the long life they have led.

Down syndrome is often associated with some impairment of the cognitive ability and physical growth, in addition to the various particular set of the facial characteristics. The victims of Down syndrome are linked to the lower cognitive ability, which does in most cases range from the mild to the moderate end of disabilities (Skallerup, 169). However, Down's syndrome is not the final whistle to a person's normal life. Many children who have received the required family support and relative enrichment therapies, in addition to tutoring, have been able to graduate from high school and college and they enjoyed the opportunities they had in the workforce. The IQ of a child born with Down syndrome is around 50 while that of the standard child is 100. The sufferers lead a normal life but a small percentage is associated to "high degree of intellectual disability" and he is grateful not to be one of them.

Majority of the common physical features of the syndrome are likely appearing in people who have standard chromosomes. Such include Microgenia; which is a condition of having an abnormally small chin, a face that is unusually round, Macroglossia; a condition of having protruding or oversized tongue. Other likely to be experienced physical features are the "eyes almond shape" due to the epicanthic fold of the eyelid, the "up slanting palpebral fissures", shorter limbs and the "single oblique palmer crease".

Children with Down syndrome are associated with health concerns such as a higher risk of "congenital heart attack defects" and the "gastro esophageal reflux syndrome". This is additional to the "recurrent ear infections and the obstreperous sleep apnea" as well as the various thyroidal dysfunctions, as he explains.

To curb the effects of the Syndrome, an early infancy intercession as well as the screening for the common problems and the administration of the medically indented treatment is able to bring up the child into a more positive approach. Together with the family favorable environment, and the professional training, can improve the Childs in general progress.

The results for My research

The initial thing learnt is that "Down syndrome is not a final blow to a family and the child but a blessing in disguise." Babies are born with the Down syndrome, but they are able to control the condition and do well in job and other disciplines if they receive "favorable" family support and other relative enrichment therapies.

Symptoms of Down's syndrome do appear at birth if the child was lucky to overcome a miscarriage or fetal injuries during pregnancy. The symptoms of the Down's syndrome sufferers are varied due to the complex gene and interactions of the environment. Before birth, it is not possible to give predictions of the likely to be noticed Down's syndrome symptoms in an individual.

The distinctiveness that are physically present in a child suffering from the syndrome include Microgenia, slanted eye fissures, epicanthic fold of the skin which happens on the inner eye corners, the muscle hypotonia, and a flat nasal viaduct. The other symptoms include the presence of a single palmer fold, a tongue that is protruding, short neck, and the Bush field sports; the "white sports on the iris". In addition to the above named symptoms, one may also depict the excessive laxity of the body joints, excessive space between the large and the second toe, and a higher number of the ulnar loop dermatoglyphs. The symptoms upon noticing do help the victims because they are accorded the desirable attention afterwards and action is taken to ensure that they too feel as part of the community.

For complications, children who suffer from Down's syndrome are exposed to a "higher risk of many conditions." Medical penalty of the extra chromosome is highly variable and it is likely to invade any organ that is deems comfortable with or any of the body processes. There are some of the problems that are present when the child is born such as the particular "heart malformations", but others are depicted "after sometime" such as "epilepsy".

Lastly, the congenital heart disease with the children suffering from Down's syndrome stands at 50%. The most common is the endocardial cushion deficiency, which holds 40% of infections. The other is the ventricular septal imperfection; a condition that commands in approximate 30% of the enduring. "Leukemia" is one of the common malignancies associated with children sufferers of Down syndrome. 

Reflections on My search

When looking for this information, I was frustrated by the likely to be discovered facts on the topic of concern. He being born with Down's syndrome is a normal thing and with the critical "support and favorable environment," he is able to lead a normal life. When he learnt that no one had the ability to prevent the defects of Down syndrome, he "felt better"; this is because nothing is certain to be linked to his being the sufferer in the family. To him, the Down's syndrome is no big deal and it has no problems in his life to be affected.

At least, he is able to partake his endeavors and does "not take any medications" to try to curb the syndrome other than the practical "therapies." This research undertaking has really helped to know that he has nothing to worry about as far as Down's syndrome is concerned. "Who has power to defend fate?" No one, He loves the fact that he has the "environment desirable" and the "support paramount to the shortcomings of the Syndrome."