not im having my PMS today...but realising the fact that i was born normal were something i should be thankful...human always complain about how life were not incomplete but if you born with abnormalities or with genetic defects, what will you feel??? they struggle for their life every minute..bearing the defects in them, the stare and stigma of the society, they lead on their life..they are brave in heading forward and yet they live happily..what we, so-called NORMAL HUMAN BEINGS do? complain this and that..complaining non-stop...blamming others, blamming the god for the so-called unfairness..i wonder when will we realise the fact we should be thankful for everything we have?? here is list only 10 genetic disorders..there are MOREEEE!!! i wonder how many readers will run to thank their parents for delivering a perfect human being..i applause their bravery in continuing their life..i applause their courage of facing the stigma...i applause them for everything they did to face the ups and downs of their life..certainly they live a life that are far more meaningful compare to me...
Joubert Syndrome
ataxia (lack of muscle control), an abnormal breathing pattern called hyperpnea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation.
Huntington's diseasejerky, random, and uncontrollable movements called chorea. In a few cases, very slow movement and stiffness (called bradykinesia and dystonia) occur instead, and often become more prominent than the chorea as the disorder progresses. Abnormal movements are initially exhibited as general lack of coordination, an unsteady gait and slurring of speech, but, as the disease progresses, any function that requires muscle control is affected, causing physical instability, abnormal facial expression, and difficulties chewing and swallowing. Eating difficulties commonly cause weight loss and may lead to malnutrition. Associated symptoms involve sleep cycle disturbances, including insomnia and Rapid eye movement sleep alterations. Juvenile HD generally progresses faster, is more likely to exhibit rigidity and bradykinesia, instead of chorea, and commonly includes seizures.
Edward's Syndrome
only 50% live to 2 months, and only 5–10% will survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child during pregnancy or the neonatal period. Because major medical interventions are routinely withheld from these children, it is difficult to determine what the survival rate or prognosis would be with aggressive medical treatment.
Down Syndrome
Individuals with Down syndrome may have some or all of the following physical characteristics: oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short neck, white spots on the iris known as Brushfield spots. excessive joint laxity including atlanto-axial instability, congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome typically 10–30 points higher. In addition, individuals with Down syndrome can have serious abnormalities affecting any body system. They also may have a broad head and a very round face.
Canavan Diseaseappear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.
Bloom's Syndrome
short stature and a facial rash that develops shortly after first exposure to sun. This rash can make a butterfly-shaped patch of reddened skin on the cheeks. The rash can develop on other sun-exposed areas such as the backs of the hands. Other clinical features include (1) a high-pitched voice; (2) a distinct facies, including a long, narrow face, a small lower jaw, and prominent nose and ears; (3) other pigmentation changes of the skin, including hypo- and hyper-pigmented areas and "cafe-au-lait" spots; (4) telangiectasias (dilated blood vessels) which can appear on the skin but also in the eyes; (5) a moderate immune deficiency, characterized by deficiency in certain immunoglobulin classes, that apparently leads to recurrent pneumonia and ear infections; (6) hypo-gonadism characerized by a failure to produce sperm, hence infertility in males, and premature cessation of menses (premature menopause), hence sub-fertility in females.
Apert Syndrome The cranial malformations are the most apparent effects of acrocephalosyndactyly. Cranial synostosis occurs, as explained above, with Brachiocephaly being the common pattern of growth. Additionally, a common characteristic is a high, prominent forehead and a flat posterior skull. Due to the premature closing of sutures of the skull, increased cranial pressure develops which sometimes leads to mental deficiency. Nonetheless, this is not always the case since some people with acrocephalosyndactyly possess normal intelligence. Furthermore, a flat or concave face may develop because of a deficient growth in the mid-facial bones, leading to a conditir prognathism. Other features of acrocephalosyndactyly may be shallow bony orbits and broadly spaced eyes.Low-set ears is also a typical characteristic, as is with all of these disorders that are called branchial arch syndromes.The major attribute of this syndrome is syndactyly of the hands and feet. Commonly there is fusion of fingers or toes with usually an equal amount on both sides.
Angelman Syndromea neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanour. (this is not a good thing..we will never know if this person is happy or sad!!!!)
Alopecia hair is lost from areas of the body, usually from the scalp
Albinism a form of hypopigmentary congenital disorder, characterized by a partial (in hypomelanism, also known as hypomelanosis) or total (amelanism or amelanosis) lack of melanin pigment in the eyes, skin and hair (or more rarely the eyes alone
so, how is it???? still will look to this people in one look?? laugh at them??? be happy the fact we were born normal..
but there is something i really would like to applause them...is the parents to this kids..how they care for them..how they take them as normal people and how they never dump them aside..how they say the child is gift to them..they really did a great job..not everyone are caring and patient enough to care for them..the parents did a very good job...watch this video..is from a dad who had a son with Edward Syndrome..he and his wife are what i call NOBLE PARENTS..:
YOUR PARENTS NEVER LEAVE US ALONE!! THEY ALWAYS TAKE US AS THEIR GIFTS..DONT TAKE THEM FOR GRANTED!! THEY WERE ALWAYS THERE WHEN EVERYONE LEAVE US..
