Down Syndrome

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When we were first told that Logan had Down Syndrome, Dr. O'Conner asked us if we knew what that was. We said we did. Since then, we've come to realize how little we really knew. The following information comes from this mothers research, not from a doctor. If you want the most accurate description, please search further than this article. Below is how I understood what I have studied. It is written in laymen's terms, not scientific ones.

In 1866, a physician named John Langdon Down first described a set of children with common features who were distinct from other children with mental limitations. He referred to them as "Mongoloids" because of their slanted eyes that were similar to those of people from Mongolia. In the 1960's and 70's genetic researchers changed the name to "Down Syndrome."

It wasn't until 1959 did researchers Jerome Lejeune and Patricia Jacobs first determined the cause of Down Syndrome to be the triplication of the 21st chromosome. Logan has this type of Down Syndrome. It is called "nondisjuntion" or "Trisomy 21." It makes up 95% of all Down Syndrome cases. Over the next three years, the other two types: translocation and mosaicism were found.

Human cells normally have 46 chromosomes (thread-like stuctures made up of DNA and other proteins) arranged in 23 pairs. The 23rd pair determines if the baby will be male or female. The XX pair is a girl. The XY is a boy. In most cases both parents contribute half of the 46 chromosomes. In the case of Down Syndrome, somehow, when the parents chromosomes split in half, the 21st set from the mom or dad does not split. So, when the egg and sperm join, there are a total of 47 chromosomes, rather than 46. That's where the name Trisomy (3) 21 (for the 21st pair) comes from. You would think one extra little thing would be good. In the case of Down Syndrome, this causes an overexpression of certains genes which can cause physical and mental difficulties.

Below is a picture of Logan's chromosomes. They are exactly like everyone elses, except for that one little extra chromosome on the 21st pair.

Three to four percent of all cases of Trisomy 21 is due to translocation. This type is where there is a rearrangement of genetic material between the 14th and 21st chromosomes. Translocation may be inherited.

Mosaicism have a mixture of normal cells and Trisomy 21. In some cases, their effects from Down Syndrome may be less severe.

Children with Down Syndrome are usually smaller than those their age without the genetic disorder. Their physical and mental development is usually slower. Many children with Down Syndrome have mild to moderate mental retardation. Although, some children are not mentally retarded in the least. Due to low muscle tone children with Down Syndrome usually have slow motor development. When others are walking at around 12 months, DS children usually don't do so until around 15 to 36 months. Low muscle tone and hearing problems can also cause a delay in language development.

The physical characteristics that Dr. Down noticed in 1866 include all, some or very few of the following: flattening of the back of the head, slanting of the eyes, small folds at the inner corner of the eyes, flattened nasal bridge, slightly smaller ears, small flaps at the top of the ears, small mouth, decreased muscle tone, loose ligaments, small hands and feet, one line across the palm of the had, and a gap between the first and second toes.

There are several health concerns attributed to Down Syndrome. Sixty to Eighty percent of children with DS have hearing deficits. Forty to forty-five percent of the children have congenital heart disease. Many have to undergo surgery. Intestinal abnormalities is common. Eye problems are at a higher incidence in children with Down Syndrome. Nutrition can be a problem as well. In the infant with a heart defect, failure to thrive can be a problem. In adolescence and adulthood obesity often occurs. There are often thyroid dysfunctions. Skeletal problems often plague individuals with Down Syndrome. Loose ligaments and hip dislocation happen frequently. There can also be health problems such as leukemia, Alzheimer disease, seizure disorders, sleep apnea and skin disorders.

Dr. O'Conner told us that today is a wonderful age for a child to be born with Down Syndrome. They know so much more than they did even 15 years ago. With a loving home and early intervention services, Logan will have a bright future. He went on to say that with three older siblings that obviously love him, a mother that is a teacher and a strong, loving father, Logan would have a great advantange over so many others. We know that with God's love and a strong family, church and community, Logan will get all the support and love he needs to be a success in life. He's succeded in one thing already. He's made everyone he's met fall head over heels in love with him. He has a heart melting smile and a accepting look of love in his eyes for everyone he meets. We have high hopes for Logan's future. Check back to his Link from time to time and watch him grow.