Trisomy 21: Down Syndrome
Before getting into this subject we need to know a little background on cell division and genetic material. This excerpt taken from the National Down Syndrome Society, gives a brief general concept of this;
“In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.”
There are three types of Trisomy 21: Down Syndrome, which I will refer to as DS. My son was diagnosed with Translocation DS. I will explained what each of these types are:
Accounts for 95% of DS cases. During cell division the embryo contains 3 copies of chromosome 21 instead of two. The additional chromosome continues to replicate in the cells as the embryo develops resulting in Trisomy 21, Down Syndrome.
Accounts for 1% of DS cases. In Mosaic DS, there are two cell types. One with the usual 2 chromosomes and the other with 3 chromosomes, one being chromosome 21. This type of DS may display fewer DS physical traits, since some cells contain the correct amount of chromosomes.
Accounts for 4% of DS cases. In this type of DS the correct number of chromosomes are in each cell. However, full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the full or partial copy of chromosome 21 causes the characteristics of DS.
As mentioned in my previous blogs, my son was diagnosed with this type of Trisomy 21. Either dad or myself was a “balanced carrier”, which means one of us has that additional chromosome that was carried down to our sons genes.
Who’s at Higher Risk?
Woman over the age of 35 are at higher risk of having a child with DS.
The likelihood of having a child with DS increases if parents already have a child with DS. Also, if the parent is a “balanced carrier” of the additional chromosome 21, there is a higher incidence of having another child with DS.
Health Conditions in Children with DS
There are a wide range of health conditions that may be present in a child with DS due to the alteration of genetic material. Some of these health conditions are not limited to:
-Heart Defects (Atrial Septal Defect)
-Blood Disorders such as Leukemia
-Low Muscle Tone
-Flat Nose Bridge
-Upward Slant to the Eyes (Almond Shape)
-Long Protruding Tongue
Deciding to Know or Not to Know
That is ultimately up to the parents. A lot of screening tests are inaccurate. Personally I avoided all screening tests. I felt they would not be reliable in diagnosing whether or not my child had DS. In fact, they assumed that because I was a young woman my likelihood of having a child with DS was low. Surprise!
Such as ultrasounds or blood draws can show up with “markers” of DS. Some are inaccurate in diagnosing DS, therefore, if a “marker” is present, additional testing will be done.
Side note: I had three ultrasounds, none of which detected any “markers” of DS.
These tests can be done prenatally and can cause a 1% chance of miscarriage if the mother decides to do it. Chorionic Villus Sampling is done at 9 to 14 weeks gestation. Amniocentesis is done at 15 to 20 week gestation.
At birth the “syndrome” of physical traits can diagnose DS. Since some of these traits can be present in children without DS another test is done; a chromosomal analysis called a karyotype which is a blood sample.
Facts About Down Syndrome
An English physician John Langdon Down, characterized the condition. That is how the name Down Syndrome came about.
It is Down Syndrome not Downs Syndrome. Many people like to pronounce it as Downs but it is offensive to the Down Syndrome community and their parents.
Approximately 1 in every 700 babies in the United States is born with DS, that is about 6,000 each year.
80% of DS children are born to mothers 35 and younger due to their high fertility rate.
The incidence of births with DS children increased with age of the mother.
Life expectancy has increased from 25 in 1983 to 60 today!
Coping with Diagnosis
Everyone copes differently, what I did are only a few ways to cope with this diagnosis but there is a wide range of resources out there.
The way I coped was through communication with my partner and family.
I joined DS groups such as Gigi’s Playhouse, which you can find the link to under my ‘Get Informed‘ tab. I subscribed to DS organizations.
I followed mothers of DS children on Instagram, seeing and reading about their success stories makes me hopeful. In turn it makes me look forward to the life with our child.
I read and got informed about DS. It can sound scary and once you get informed your mind sees this in a completely different way.
Religion: God, Prayer and Faith!
My Personal Views
Children with DS are mind blowing; in every aspect. In, learning abilities, their success within this society, their loving and caring hearts and their strength to overcome obstacles.
Abortion is not an option, when announced or informed that a DS baby could be expected. It is inhumane for this to be even considered.
Down Syndrome is an issue to the genetic material, same as many other genetic conditions.
Food for thought: If the Obstetrician, Midwife or Primary Doctor told you that your child were to grow up with Diabetes, Arthritis, Bipolar Disorder or many of the other worldwide diagnosis, would you consider abortion?
Trisomy 21, DS, is not any different than other health conditions.