John Langdon Down is sometimes referred to as the “Father of Down Syndrome.”  This is simply because he was the first doctor (a British man) credited with making a connection between a series of physical characteristics and what we now refer to as Down Syndrome or Trisomy 21.  Unfortunately, in his day, the term “idiot” was used to describe those who had any type of cognitive delay so his original label was much less desirable as he called the individuals he was classifying by the term “Mongolian Idiot” referring to the almost Asian look of the almond-shaped eyes.

John Langdon Down worked in an institution and often mentioned positive attributes of his patients that he was classifying noting the following in a paper he authored:

“They have considerable power of imitation, even bordering on being mimics. They are humorous and a lively sense of the ridiculous often colours their mimicry. This faculty of imitation can be cultivated to a very great extent and a practical direction given to the results obtained. They are usually able to speak; the speech is thick and indistinct, but may be improved very greatly by a well directed scheme of tongue gymnastics. The co-ordinating faculty is abnormal, but not so defective that it cannot be strengthened. By systemic training, considerable manipulative power may be obtained.” Down, J. Langdon (1887). Mental Afflictions of Childhood and Youth. J& A Churchill, London.

Before we ridicule him for his choice of words we should know that his choice of labels only reflected the common language of his time.  John Langdon Down was said to be gentle, kind, and forward thinking in his treatment of those in his institutions who had the genetic effects of Trisomy 21.

 

 

Prenatal tests are said to be more accurate than ever before and we are screening for genetic abnormalities as early as 9 weeks into a pregnancy.  Pieces of your baby’s DNA actually circulate in your bloodstream during pregnancy.  The latest tests, NIPT’s or Non Invasive Prenatal Tests are engineered to test primarily for Trisomy 13, 18, and 21.

These tests are offered by a number of companies (primarily Harmony, Genesis Serenity, MaterniT21, and Natera) and these do not all test in the exact same manner.  It is important to differentiate, however, that these tests are SCREENING tests only and warrant further testing before a diagnosis can be handed out.  In fact, I was made aware just 2 weeks ago of a mother who had a screening done and was told that her chances of having a baby with Down Syndrome were 99%, however, she went on to deliver a perfectly healthy child without Down Syndrome.  This is not the first time I have heard of this occurrence.

It was my choice to not consent to these tests.  My reasoning was that I knew I would worry myself sick if there was something found on one of the tests, and I did not want that stress.  Personally, I figured that if there were issues of concern, they would likely show up on ultrasounds, I had several and there was nothing found at my level 2 ultrasound that lasted well over an hour.  Also, for me, it did not matter if I was carrying a baby with a genetic disorder, it wouldn’t change the outcome of my pregnancy.

What concerns me the most about these tests is that they are performed and, more often than not, a woman who gets a screening with a high probability of a genetic abnormality is not given accurate and up to date information about what that means.  These women, statistically speaking, are terminating their pregnancies at alarming rates.  The current numbers state that between 60-90% of prenatal diagnosis of Down Syndrome result in pregnancy termination and I personally believe that this is rooted in fear of the unknown.

NIPT tests can have false positive rates and they are not diagnostic.  The only tests that tell for certain that a baby will have a chromosomal abnormality are an Amniocentisis and a CVS (chorionic villus sampling) both of which analyze the amniotic fluid surrounding the baby and both carry risks to mother and baby.

 

 

When we had our confirmed diagnosis of Down Syndrome, this fact was one I had already stumbled across while Google and I were dancing around.  I was scared of the heart issues, as most moms are.  I was also confused, maybe I should have paid more attention in Biology class because I suddenly felt like a child in a Charlie Brown cartoon where the teacher is talking but all poor Charlie Brown hears is the Wah-wah-wah.  There we sat in the office of a cardiologist while a technician ran a wand across our newborn’s heart to check for holes, malformations and congenital heart defects.

I did some research and it turns out there are some very specific heart defects associated with Down Syndrome.

ASD- Atrial Septal Defect

“In this defect there is a hole between the top chambers (receiving chambers or atria). Because of the higher pressure in the left side of the heart, oxygenated blood flows through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow.

There are three types of Atrial Septal Defect; the most common is when there is a hole in the middle of the central heart wall. Holes in the lower part of the septum, called the primum defect (partial atrioventricular septal defect), are often associated with a problem of the mitral valve that often results in a leak. Less common are sinus venosus defects or holes in the top of the septum. These are associated with an abnormality of the right upper lung vein.”  -Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

VSD- Ventricular Septal Defect

“In this defect there is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher pressure in the left side of the heart, this allows oxygenated blood to flow through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow.” Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

PDA- Patent Ductus Artetiosis

“This defect is the continuance of a direct connection between the aorta and the lung (pulmonary) artery, which normally closes shortly after birth.” Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

Tetralogy of Fallot

“This anomaly includes four different heart problems:

• a hole between the top chambers and a hole between the bottom chambers
• combined mitral and tricuspid valves (common atrioventricular valve)
• narrowed pulmonary artery (from heart to lungs) or the area under or above the valve, or all three
• thickening of the right bottom chamber (ventricle)” Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

 

Cedar has two of these heart issues, he has a PDA and an ASD.  So many of our friends in the Down Syndrome community have had open heart surgery to repair their heart problems but at this time Cedar’s heart conditions are just being monitored by his cardiologist every 6 months.  It is possible that in a few years he will have to have a heart catheter surgery if his holes do not close on their own.

 

Down Syndrome is often thought of as something that affects older mothers, so much so that the “advanced maternal age” label is slapped on a woman at the ripe old age of 35 and then the incessant testing begins.  For those women who are young and healthy, it often comes as shock that they are even capable of having a child with Down Syndrome, however, the majority of stories that have been shared on this site are written by women under age 35.  Women under age 35 are the ones having the most babies so that is why the percentage is higher, not too many women keep having babies (like I did) well past age 35.

For my little one, I was past the magical age of 35.  In fact, he is the 3rd child of our 6 children that I gave birth to after I turned 35 years old.  My other two children (now aged 5 and 3) are perfectly healthy and have no genetic abnormalities.  I was offered a slew of tests due to me being a geriatric obstetric patient (laughing out loud here) but, because I knew of the rates of false positives, and because anything that would have been found through an amniocentesis or other tests would not change my pregnancy, I never submit to the testing.

That is why we were very surprised though, at the birth of our son, Cedar, to learn that he has Down Syndrome.  Yes, I am over 35, but here are just a few of the many stories of moms who are under 35, some under 25 who are now blessed with a child who has Down Syndrome.

 

Down Syndrome Diagnosis under 25 (a first-time mom)

Young mom & a Down Syndrome diagnosis