Wednesday, July 18, 2012

There is Hope: Down Syndrome and Abortion

I was touched by a picture that was posted by the group "Catholic Church" on Facebook:

In case you can't read the sign this boy is holding, it says:

I may not be perfect but I'm happy. I am God's handiwork and I bear His image. I am blessed. I am the 10% of children born with Down Syndrome who survived Roe v. Wade.

This particular situation is very close to my heart. While in college, I worked for 3 years with the handicapped. I am now married into a family that has three children who have Down Syndrome.

There is no rational reason for this statistic. Let's put aside for a moment the standard debate about whether or not life starts at conception. I'm not here to argue about that. Let's just look at some facts:

What exactly is Down Syndrome?

And why am I calling it Down and not Down's? Down's indicates ownership and seems to imply that Dr. Down had the syndrome. Dr. Down was simply a doctor who was among the first to clinically describe the condition.

Down Syndrome is a condition in which the person has a whole or partial extra chromosome 21. This causes a number of different physical affects, from the characteristic slanted eyes to congenital heart defects to mild/moderate cognitive delays.

It is the single most common chromosomal condition. One out of every 691 babies born in the US has the condition. The chances of having a baby with DS increases with the age of the mother. Since people are having children later in life nowadays, it is estimated that the number of people with DS in the US will only continue to rise.

See the extra 21?

What causes it?

There are three causes:

1) In the vast majority of cases, DS is caused by "Trisomy 21." Basically something goes wrong as either the eggs or the sperm develop causing them to have an extra copy of chromosome 21.

2) In 1% of cases, the problem occurs after fertilization; As the cells of the developing fetus divide and multiply, some of those cells accidentally gain an extra copy of 21. This is called "mosaicism."

3) Another very uncommon cause (about 4% of all cases) is when a parent has a small anomaly in their genes that makes it more likely for them to have a child with DS. In this situation the parent's 21 is attached to another chromosome. This does not cause any problems for the parent, but as gametes are formed, the parent has an increased chance of having a gamete with an extra 21. This cause is called "translocation." "Translocation" is not affected by age, "trisomy 21" and "mosaicism" are.

enough said

How do you find out if your child has it?

There are several tests that can be done prior to birth to determine if a child has DS. To screen for DS, the mother's blood is tested for amounts of different substances and an ultrasound is done to see if the baby has any of the typical markers. These tests have a very high accuracy rate, but they do not diagnose it. To diagnose DS, CVS or aminocentresis is used. Both of these tests are very invasive and carry a very small risk for spontaneous miscarriage. Those tests involve taking a sample and looking at the placenta and the amniotic fluids respectfully. All of these tests are offered to all pregnant women in the United States and the screens are strongly suggested for women over the age 35.

What exactly are the medical issues that children with this condition face?
 -congenital heart defects
-respiratory problems
-hearing problems
-Alzheimer's disease
-childhood leukemia
-thyroid conditions
-intellectual disability

What are the chances of a child with DS having any of these things?

I'm now going to steal wholesale a chart from Wikipedia. From what I have seen elsewhere, I feel that this chart is accurate although I am not familiar with the source the Wikipedia author uses.

Characteristics Percentage[20] Characteristics Percentage[20]
mental retardation 99.8% small teeth 60%
stunted growth 100% flattened nose 60%
atypical fingerprints 90% clinodactyly 52%
separation of the abdominal muscles 80% umbilical hernia 51%
flexible ligaments 80% short neck 50%
hypotonia 80% shortened hands 50%
brachycephaly 75% congenital heart disease 45%
smaller genitalia 75% single transverse palmar crease 45%
eyelid crease 75% Macroglossia (larger tongue) 43%
shortened extremities 70% epicanthal fold 42%
oval palate 69% Strabismus 40%
low-set and rounded ear 60% Brushfield spots (iris) 35%

Now with the numbers on the table, what does this mean in real life?

First of all, these numbers do not mean that the child will have a severely shortened life span. The life expectancy for some one with DS is only 18 years shorter than the average life expectancy (60 years vs. 78). The current DS life expectancy is 35 years longer than it was in 1983, imagine how much more that can be improved in just a few more years. With today's medical knowledge and technology, nearly all of the health issues that face children with DS can be fixed or easily managed.

DS in 1983              DS in 2011           US Average

One of the scary phrases in the chart above is "mental retardation." First of all, while that is the medically correct term, those in the community prefer "intellectually disabled." One needs to keep in mind that this term covers a whole spectrum of realities. A child who needs a little extra time on a test is lumped in with someone who cannot feed themselves with this simple term. Most children with DS are closer to "the child needing extra time" end of the spectrum. In other words, most people with DS are either mildly or moderately intellectually disabled. Most children with DS have the ability with a good education and good medical care to live fully productive, fully normal lives.

I realize that to raise a child with DS will require more time, patience and $$$. There is good news on those fronts as well. Every community in the US has a support group for parents. There you can share with others the whole mess of emotions you are going through and parents have the opportunity to help each other.

Check out the kid on the far left in the Target ad!

Many states have free early-intervention programs that will pay for needed therapies, tests and care up to the age of three. If you are not referred to them by your pediatrician, you can get the information yourself here. (I have personally dealt with the one in NY due to some early concerns about my son and it was a very easy process and they were very helpful.)

After your child turns 3, he or she is guaranteed an education under the Individuals with Disabilities Education Act (IDEA). "Under IDEA, local school districts must provide "a free appropriate education in the least restrictive environment" and an individualized education plan (IEP) for each child." according to this informative site.

Medical care is another big expense. A child with DS qualifies for medicaid and social security benefits. Also, different states and cities have other resources for necessities like specialized equipment. A good site for info written by a mother of children with DS is here.  

My point here: Down Syndrome is not a death sentence. Living with DS is not even a one-way ticket to a difficult life. The only explanation I can see for the statistic above is misinformation and myths which I have tried to help fix here. If you or someone you know is pregnant and the child has been diagnosed with Down Syndrome, you, or they, need to know that you are not alone and there is help out there. It will be difficult, but there is hope.

For more info:


  1. Glad to see your post as my 4 year old is another of the %10 NOT aborted even though I found out at age 21, and 17w pregnant while testing for something else. He has many of the problems mentioned including the hypotonia, eyes, heart issues with severe surgery complications, he did have hearing issues due to small ear canals getting wax in them... BUT even though he went through all that and took TIME to do things...such as walk a couple days prior to his 4th's WORTH IT %100.


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