Down Syndrome
On Saturday, January 2, 1999, the birth of Hayden Michael was met with great delight at Russell Medical Center. Two families gathered and shared in the miracle. Everyone stood at the window and watched the blue bundle of joy laid into the bassinet. All was well in the world.
Sunday morning Dr. Katie Cooper told the new parents that she suspected Hayden had Down Syndrome but she would need to do a chromosone stest to be 100% certain. The first reaction for all was to cry. We cried for ourselves, for each other, and for the baby. Once the tears were spent a fascination with Down Syndrome took over and I began reading anything I could on the topic. I wanted to know all I could about my newest little grandchild. It became a realization that I was in this for love and forever.
Numerous questions plagued me. What is Down Syndrome? I looked to the experts and found a wealth of information. Down Syndrome is a chromosonal anomaly that occurs in 1.3 per 1000 births. For some unexplained reason, an error in cell development results in 47 chromosones rather than the usual 46. This extra gene material changes the development of the brain and body.
What causes it? Theories abound but the actual cause is unknown. It is well known that extra chromosone in Trisomy 21 most often comes from the mother.
Will all the parents children be born this way? If there is already a child with Down Syndrome, the risk increases to one in 100 in Trisomy 21 and Mosaicism for having a second. If the child has translocation Down Syndrome and if one parent is a carrier, the risk is even greater.
How many are there? The national population is about 250,000. 5,000 babies are born to mothers under the age of 35.
What do children with Down Syndrome look like? Some of the features are slanting eyelids, depressed nasal bridge, smaller ears, mouth, hands, feet, and fifty percent have one line across the palm. Not every child has all the features, some may have a few, others may have most of them. One thing to remember is that they have the same likes and interests, emotions and attitudes, are artistic and creative, are imaginative and playful just like other children. They can grow up and live independent lives with varying degrees of support.
What about care? All children thrive under parental care and attention. Down Syndrome children are no different.
What about their future? More doors are open now than ever before. There are people with Down Syndrome all across the United States going on with the business of living their lives. They learn, they work, they have relationships, just like you and me.
What kind of health problems can/will be observed?
1. Sixty to eighty percent have hearing deficits.
2. Approximately forty percent have congenital heart disease.
3. Intestinal problems occur at a higher frequency rate.
4. Eye problems are frequently observed.
5. Down Syndrome kids often exhibit failure to thrive tendencies in infancy and obesity in later years.
6. Thyroid problems are common.
7. Abnormalities in the skeletal framework are very common.
And the list goes on.
Is there degrees of Down Syndrome? There are three types of Down Syndrome. The first type is called Trisomy 21. An extra 21st chromosone is present in each of the body's cells. This type is the most common. The second type is called Mosaic. It produces two populations of cells. The trisomy 21 cells and a second normal cell line. Physical features may be milder because of the normal cells present. The third type is Translocation. The 21st chromosone is permanently attached to another chromosone in the egg or sperm. "Translocation refers to one type of arrangement of chromosomal material; in Down Syndrome almost all translocations are Robertsonian translocations, named for Dr. Roberts, an Australian chromosone expert. A Robertsonian translocation means that one chromosone 21 attaches to another one forming a new one." The total chromosone level will be the normal 46 but there will still be Trisomy 21.
Everyday is a learning experience, but then life is always that way. As a grandmother of two Down Syndrome children I feel my life has been placed in a different perspective. From my grand-daughter and grand-son I am learning everyday to do what you can, learn what you cannot do, and once you do, find you can do anything.