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October is Down Syndrome Awareness Month, and as a parent of a wonderful little boy with this condition, I want to help you learn more about what it means. You probably know someone with Down Syndrome, or have at least seen someone as you've gone about your life. If you're like I was when I was younger, you've probably taken a second glance because their physique is a little unique, and they share some common features.
It used to be that people with Down Syndrome were segregated into separate classes, and it was just assumed that they could not measure up intellectually. These individuals were relegated to group homes, and never given a chance to succeed, regardless what potential they may demonstrate.
Thankfully, the world today is a little different, and many people with Down Syndrome are doing things society never thought possible. Here's a brief overview of what Down Syndrome is, and what current science shows us in terms of helping and supporting people with this condition, and what everyone should know.
How Common Is Down Syndrome?
First, let's discuss some quick facts about Down Syndrome. Down Syndrome is the most common genetic condition. As of the writing of this piece, Down Syndrome affects about 1 in every 700 live births. It is estimated that only 20% of babies conceived with this condition survive pregnancy.
The picture painted for parents is pretty bleak, being told that even if the baby is born, they only have a 50% chance of surviving through their first 5 years. If they happen to survive to adulthood, they are likely to have early onset of Alzheimer's.
This is the fear campaign waged on parents, driven to get moms to choose to terminate the pregnancy. More on that later. This is what we're told the reality will be for our lives. However, there's so much more to Down Syndrome than these statistics.
What Are The Affects of Down Syndrome?
As you already know, Down Syndrome is the common name for the genetic condition Trisomy 21, which is an extra copy of the 21st chromosome. There are different types of Down Syndrome, with true Trisomy 21 being the most common, where every cell has the third copy of the chromosome.
Then you also have Translocation Down Syndrome, which is when either part or all of the extra copy of the 21st chromosome, but it's attached to a different chromosome, but this again affects every cell. This accounts for about 3% of all Down Syndrome Cases. Finally, there is Mosaic Down Syndrome, which is when some cells have the duplication, but some do not. This only accounts for about 2% of all down Syndrome cases.
Regardless of what type of Down Syndrome a person has, there are some predictable things that often affect these individuals. Keep in mind that not every person has every one, it just depends upon how the genes express as the body develops. Here's what is commonly associated with Down Syndrome:
- A flattened face, especially the nose.
- Smaller ears.
- Hypotonia.
- Smaller stature.
- Hearing problems.
- Heart defects.
- Cognitive delays.
- Gastrointestinal defects.
- Vision problems.
- Hypothyroidism.
- Prone to infections.
- Leukemia.
Don't let all of these issues scare you too bad. My feeling is it's good to know what the possibilities are, but then work to minimize the negative stuff. More on this below, so keep reading. If you know someone with Down Syndrome, or are expecting a little one yourself, consider getting a copy of the book target="blank">Babies with Down Syndrome: A New Parent's Guide, which was actually given to us by a genetic counselor.
Is Down Syndrome Preventable?
What is commonly stated to new parents is that there's no known cause for Down Syndrome, which I think helps us sleep a little better at night. However, genetic research has shown us there is a traceable cause to Down Syndrome.
According to the scientific research team at Trisomy 21 Research, the problem is at first or second stage mitosis, where the cell initially splits. This problem with the cell splitting is actually caused by a lack of folate at the moment the cell tries to split. This lack may not actually be not enough dietary folate, but rather, the mother's body ability to use it, which can be caused by an MTHFR gene mutation. Not every mother has this condition, but it is something commonly seen in the community.
As for the problems associated with Down Syndrome, many of them are treatable, thanks to the field of epigenetics. This field of science looks at how to change the way in which genes express. For Down Syndrome, the extra chromosome means the active genes over express, causing the problems we see. If we can change the way in which those genes express, then we can solve many of those problems. That's the primary purpose for this research team, to find the methods in which to change how these genes express.
The World Responds Poorly to Down Syndrome
The world, as a whole, has gotten the response to Down Syndrome wrong. Rather than embracing the way to help individuals who are born with this condition, and find ways to prevent it, we have just tried to eliminate the people when it happens. In the United States, women are referred to a perinatologist if they are suspected to have a baby with Down Syndrome. These doctors are supposed to oversee high-risk pregnancies, but in many cases, they pressure moms into terminating the pregnancy altogether.
I know in our case, it was appointment after appointment that we were told all about the horrible things that could happen. The doctors pled with my wife to, “consider our other children, and the effect on the quality of life a child with Down Syndrome will have.” All of this despite my wife clearly indicating she had no desire to terminate the pregnancy.
In other parts of the world, there is a significantly high percentage of abortions after a prenatal diagnosis. Consider that it's nearly 100% in Iceland, 98% in Denmark, 77% in Franc, and 67% in the United States.
Rather than pushing to prevent this condition through pregnancy termination, why don't we focus on the root causes, and treating them? Why don't we offer those who are born with the condition the fighting chance, given the advancements in scientific knowledge of what God has already given us? This is where the fight should be, not in bullying women to consider all the "positives" of terminating a pregnancy.
**These statements have not been evaluated by the Food and Drug Administration. This information is provided for educational and entertainment purposes only and is not intended to diagnose, treat, cure, or prevent any disease.
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