Down Syndrome Awareness Month

October is here!  October is here!  Along with the excitement for all things fall for me comes the excitement of Down Syndrome Awareness Month.  Because creating awareness is not just important, it is seriously needed.  We still have to push for “people first, diagnosis later” for people with Down syndrome…(PEOPLE who happen to have Down syndrome).  Hopefully I can reach at least one person to educate and inform through advocating efforts.

We can advocate at our best when we fully understand the truths about Down syndrome.  Below are the most common facts about Down syndrome today.

Down syndrome is the most common genetic disorder with some 1 out of every 691 live births affected by the condition.  Unfortunately for those babies diagnosed prenatally, the termination rate is alarmingly high.

What is Down syndrome?  

Down syndrome, also known as Trisomy 21, means that there is an extra copy of the 21st chromosome in a person’s genetic material.  It happens at the time of conception when mom and dad each send their arranged 23 pairs of split chromosomes and either mom’s or dad’s 21st chromosome failed to split, resulting in one extra chromosome.  Down syndrome happens randomly and cannot be prevented.

cropped-t21.jpg

Tessa’s actual karyotype.

How is Down syndrome diagnosed?  

Down syndrome is detected a number of ways including markers during an ultrasound, amniocentesis and postnatal exam; but it is officially diagnosed when the cord blood is sent in for testing.  A karyotype is developed and shows each set of chromosomes and whether or not an extra chromosome is present.

How does Down syndrome affect those who have it?  

Down syndrome causes a difference in physical features that may include:

  • wide set almond shaped eyes
  • small low set ears
  • small facial features
  • flat facial profile
  • single palmar crease across hands

Down syndrome can be associated with numerous health related issues such as:

  • congenital heart disease and other heart problems
  • digestive system abnormalities
  • hearing and vision difficulties
  • thyroid problems
  • increased risk for developing leukemia
  • obstructive or central sleep apnea

Down syndrome affects physical development due to low muscle tone leading to delays in sitting, crawling, and walking.  Down syndrome affects intellectual development as well.  Thanks to early intervention services such as physical, occupational, and speech therapy babies born with Down syndrome are able to flourish alongside their peers.  The skill sets attained from such therapies help develop the fundamentals for each child with Down syndrome to reach their full potential as they grow into adulthood.

People who have Down syndrome are people like everyone else. They are different just like each one of us is.  And although our society has an undefined yet unreachable expectation for perfection, those with Down syndrome are often overlooked due to outdated stereotypes.  But please hear me:  People with Down syndrome deserve the same respect for sharing this earth as you or I do.  Today, people with Down syndrome are living full and–more often–independent lives.  They are owning their own business, raising families and contributing largely to society, and the list goes on and on.

The value of a life is not based on the number of chromosomes one has.  It is not based on what someone can or cannot achieve.  The value or a life is not to be defined by you or by me.  We can all learn from one another.  We all have the ability to open our eyes and see that perfection comes in all forms.

All October long I will create awareness, celebrate the life of my daughter, and push for higher expectations of respect for all life.

“Be the change you wish to see in the world.”

-Gandhi

To learn more, please visit the International Down Syndrome Coalition at:  www.idsc.org

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