Down Syndrome: God's Little Angels

Down Syndrome (also known as Down's Syndrome in the United Kingdom) was first discussed by British doctor John Langdon Down in 1887, but it wouldn't be until 1959 when the extra Chromosome 21 was determined to be the cause.  Down Syndrome is a genetic disorder also known as Trisomy 21 that affects approximately 1 in every 800 babies.  It is characterized by an extra chromosome 21 where the child would carry three copies versus the normal two.  Down Syndrome is thought to occur during conception and the child will receive 47 chromosomes as a result of the extra Chromosome 21 instead of the usual 46 chromosomes.  Down Syndrome is a relatively common and unpreventable birth defect that causes delays in physical and mental development and can cause other serious health issues. 

Currently there is no way to prevent the chromosomal malfunction associated with Down Syndrome and science has no answer for why it occurs.  However age of the mother can increase the risk of the fetus developing Down Syndrome.  Once a woman reaches the age 35 their risk of giving birth to a child with Down Syndrome is 1 in 350 babies and by age forty it dramatically reaches 1 in 100. 

The following characteristics are typical of children born with Down Syndrome but do not occur in all children.  They also may appear in Down Syndrome individuals to various degrees.

-  Physical Characteristics:

1. Children with Down Syndrome are usually born at a normal size but as they progress in age tend to be smaller than their peers.
2. Small and low set ears.
3. A large protruding tongue 
4. Flat facial profile
5.  A short neck with an extra fat pad on the back called nuchal thickening.  This generally decreases as the child gets older and sustains head and neck muscles controls.
6.  A flat or seemingly non existent bridge to their nose.
7.  Upward slanting eyes and sometimes an extra crease below the eyelids.
8.  Poor or low muscle town also known as Hypotonia.
9.  White spots on the iris of the eye.

-Medical Conditions:

1. Various degrees of mental retardation are common in individuals with Down Syndrome.  Not all people who have the disorder are mentally retarded but the risks of becoming so are increased and can vary from mild to severe.
2. Speech and language development can be delayed as well as impairments in motor skill
3. There is a high incidence of congenital heart defects in babies born with Down Syndrome. 
4. Bowel problems as a result of underdevelopment of the small intestine. 
5. They may also suffer from vision impairments, hearing loss, and Thyroid issues.
6. Children born with Down Syndrome are 10-15 times more likely to get leukemia in their younger years.
7. More likely to contract infectious diseases due to their underdeveloped immune systems

I didn't write this Hub to make the possibility of Down Syndrome so bleak for some expecting parents.  It's merely meant to be informative and to hopefully answer a few questions or delete the element of surprise for those expecting a child with Down Syndrome.  As a mother of a 11 month old little boy with Down Syndrome I took all the information in I could get after my amniocentesis.  Down Syndrome can range from mild to severe in all births and while my son has a mild case there are trials and tribulations each day of our life.  Most people never know my little angel even has it because he has been fortunate to not have many delays and doesn't really have any physical features typically found in the disorder.  It's important to remember that they can still do everything they want in life as any other child, it just might take a little extra work to get there.   My son is the angel God sent to show the world how to love.