In Utero Testing -- The Need to Know -- And Then What?

In utero diagnosis is an imperfect science (to quote a peri-natologist I saw during my pregnancy) and leaves so much -- not necessarily good -- to the imagination at a time when hormones are already raging. Folks say it's "good to know... To plan!" But, maybe you just can't "plan" for some things. So you've been told that your unborn child has Down syndrome?

Q -- Will you sleep soundly for the next 5 months wondering about the future?
A -- I highly doubt it. I barely slept well just because I was pregnant... never mind any "bad" news I received from the medical community. And, this is a time when I -- and the babies -- desperately needed rest!

Q -- Can you pre-book the heart surgeon?
A -- In utero problems have a way of resolving themselves prior to birth. And, if they don't, all necessary medical personnel are on hand... You're in a hospital! My boys were born without any heart defects.

Q -- Is it necessary to contact the state's special services folks in advance to get the ball rolling?
A -- No need, they contacted me within a week of my children's births based on the hospital's notification. And, Early Intervention began almost immediately upon their arrival home at -4 days old.

Q -- Do you put them on the waiting list for the best local special needs school/camp etc.?
- We learned we had to wait and see what level (if any) impairment there might be and then decide. My sons are cognitively intact. As such, we've chosen to go the inclusion/mainstream route to facilitate their development.

Q -- Should you terminate the pregnancy because the MDs tell you the child's quality of life will suffer due to the DS-related defects?
- What if they were wrong and I terminated two healthy, amazing little individuals? We had a number of incorrect, in-utero diagnoses (DS was not one of them), each outcome worse than the next. It turned out that my boys are fine... developing on the low-end of the "normal" curve... with Down syndrome.

Q -- Do you anticipate and/or plan for the worst or do you hope for the best?

A -- Had I tested and been told they had Down syndrome -- along with all the other misleading and flat-out-wrong in-utero diagnoses they predicted -- I would not have known all these healthy things about my boys. Had I been told this information during this most-stressful time of my life, I might have been swayed to terminate based on incomplete and/or erroneous information. And, these two beautiful children who are now brightening the life paths of so many others would not be making their way through their own lives with great success and fanfare. They would never have graced this earth and made it a more beautiful place.

* Note: This is not about pro-life versus pro-choice. This is about the value, specifically, of in-utero diagnoses of Down syndrome.

So Low Tech -- Me!

Sorry for missing yesterday and, apparently, today. I've been experimenting with scheduling posts and, obviously, I haven't worked out the kinks yet. That's just a nice way of admitting that I don't know what I'm doing, here. But, if you don't see my new post technically tomorrow at 12:01 this AM (because I can't figure out how to get it posted tonight), then I'll have to quickly perfect my copy/paste capabilities which I also have not been able to get working in blog-mode.

I'm not even going to tell you what it is I did for a living before I became a stay-at-home-mom to my 3 beautiful children (2 of which happen to have Down syndrome). Suffice it to say that I SHOULD be able to figure out all this "simple" computer stuff and my colleagues would be on the floor laughing at my folly.

I guess it's good to be able to laugh at yourself! So, this is me laughing all the way to bed! And, tomorrow, hopefully, I'll be able to say I learned something new (how to schedule a post)... if I'm lucky!

Better Late Than Never

This is yesterday's blog. Yes, I know it's late. But, better late than never, I always say. As a matter of fact, sweating over whether or not I'd get to blog yesterday in honor of Down Syndrome Awareness Month, gave me my topic...

Children with Down syndrome almost always end up able to do most of the things that typically developing children achieve.... They just do it on their own timetable! It may take a little longer but, invariably, it does happen. They'll walk. They'll talk. They'll run and ride a bike... like most kids. They'll go to school and, yes, even graduate. And, many will go on to college. That's right they attend college, earn degrees and get paying jobs!... Just like typically developing kids! It might take a little longer but it can and does happen with patience and support (just like with some typically developing kids - LOL).

The developmental timetable for children with Down syndrome may mirror the typical timetable in some areas or may extend a bit further into their young adulthood in others. But, those of us with children with Down syndrome should take heart... because All Good Things Come to Those Who Wait and the Reward is GREAT!

Fun Facts Regarding My Boys!

Here are some interesting numbers I recently heard...

1 in 800 = the chance of having a child with Down syndrome
1 in 300 = the chance of having identical twins
1 in 240,000 = the chance of having identical twins with Down syndrome

That's approximately 12 sets of identical twins with Down syndrome in the US per year (out of about 4,000,000 births)

1 in 4 = the chance of identical twins being mirror image twins

SO, the chance of me having my boys -- mirror image, identical twins with Down syndrome is most closely calculated at:

1 IN A MILLION!

... I knew they were special!

But, it's nice to have the numbers to back up my claim!

Interesting Correlations Are Not Always Direct Cause & Effect

Two things correlated are not necessarily related by direct cause and effect.

Research shows that diapers and beer are the two items most commonly purchased together at the supermarket! Does that mean that having young kids in diapers drives more parents to drink? Or, that drinking beer directly causes the birth of children (in diapers)... OK, don't answer that!

History says the simian crease occurs in people with extra 21st-chromosomal material. But, there are people without Down syndrome who have the simian crease AND people with Down syndrome who do not. Are they directly related by cause and effect or do these two things happen like beer and diapers?

Research also shows that the children of mothers who breastfeed have higher IQs by 2-3 points. Does that mean if you breastfeed your child, you will raise his/her IQ by 2-3 points? Or, is it possible that the type of mother who breastfeeds her child is more attuned to educating, interacting with and exposing her child to more varied experiences that result in her child's higher IQ scores (statistically speaking)?

History shows that children with Down syndrome who were raised in their homes had higher IQs than those who were institutionalized. Was it just coincidence that the children who stayed home had less "mental retardation" than those who spent their lives in an institution? Or, perhaps like breast feeding, the type of mother who chose to keep her child home was more attuned to educating, interacting with and exposing her child to more varied experiences that resulted in her child's higher IQ scores!

Correlations are not always what they seem but are often presented to us in a way that insinuates direct cause and effect. Just something to think about....

Down Syndrome - A Little [Painful] History

Down syndrome was first described as a chromosomal-based syndrome in the 1930's. It was initially called Mongolism because it was believed that the physical appearance of a person with Down syndrome most closely resembled native Mongolian people. In the early '60s, the term, "Down syndrome" was officially adopted after Dr. John Langdon Down clinically described the syndrome (grouped common symptomology)... And, out of respect for the wishes of the Mongolian government who took offense to the term "Mongolian idiot", when referring to a person with Down syndrome. (I find it unbelievably offensive myself and, sadly, still run into some 'old school' folks who insist on referring to my children in this manner.)

From the 1930's to the 1960's, it was widely believed that people with Down syndrome were profoundly mentally retarded. As such, the common practice was to permanently institutionalize individuals with Down syndrome for on-going life-care. However, in the 1960's and '70s, various studies began to recognize that the earlier children with disabilities received special education, the better their outcomes. Through university programs, such children, including those with Down syndrome, began to receive early developmental and educational services. Amazingly, it wasn't until the 1990's that Early Intervention programs finally took hold universally. This began to erode the outdated thinking and practices such that tremendous gains in cognitive and physical development in people with Down syndrome were achieved.

Today, many still hold antiquated beliefs about how Down syndrome effects the individual. As I researched this history, I found information still circulating that touted necessary characteristics of the syndrome that do not apply to my sons (who certainly have Down syndrome). For instance, though mild to moderate mental retardation may occur, like other disabilities such as Cerebral Palsy, they are finding that not all people with Down syndrome are mentally retarded. (My sons were just declined services through OMRDD for not being "mentally retarded" based on their IQ scores.) Additionally, while nearly 80% of people with Down syndrome may suffer from heart defects, 20% do not. (My boys' hearts are defect-free and no different from yours or mine!) Not all people with Down syndrome have the simian crease and some "typically developing" people have one or more simian creases across their palms. (My sons have one each but their eye doctor has two and, no, he does NOT have Down syndrome... Which makes me wonder just how strongly it is related to the extra chromosomal material!) So you see, we are still a long way from fully understanding the cause and effects of this syndrome, and the capabilities of, and possibilities for, individuals who are afflicted.

It has taken nearly 80 years to realize that people with Down syndrome are truly viable members of our society. (And, some would argue, perhaps correctly, that we're still not there.) This is a sad historical fact we cannot change. But, to me, the most devastating aspect of this history is the institutionalization of this absolutely amazing population. My sons thrive on social interaction. I cannot imagine a worse thing you could do to them than to isolate them from others and strip them of their right to be participating members of our society. We must all do our part to ensure that it does not take another 80 years to foster greater acceptance of people with Down syndrome.

I See Two Babies...

You should know I never run out of wonderful stories to tell about my beautiful identical twin sons who happen to have Down syndrome. As I type they are not-so-quietly playing with their pirate-men... having duels between them. But, the bewitching hour is upon us so this will be quick....

My boys were born via C-section at 32 weeks. It was a tough pregnancy, completely unrelated to their as yet undiagnosed Down syndrome. No sooner was I rolled into the NICU than the Neonatologist told us they were healthy and strong and breathing on their own. But, she continued, she was concerned about some "signs" and was sending out a blood test for Down syndrome. I was immediately relieved that my sons (we hadn't found out the gender before their births) were breathing on their own and alive. The multitude of incorrect in-utero diagnoses we'd suffered had, thankfully, not come to fruition. My husband, however, looked, for just a split second, like he took a shot to the gut. I thought if he could have, he'd have escaped into the nearest closet to scream at the top of his lungs, "NO!" But, it was a fleeting moment and together we said, "That's fine. Thank God they're alive and well!" My husband went home that night to care for our daughter as I stayed in the hospital with our newborn boys to rest, recover and nurse them.

The next morning, when my husband came back I asked him how he was feeling about the news. First, he said we should just wait and see what the tests said. But, I knew from the way everyone was talking to me that the test was just a formality and their simple way of breaking the news to us. Our boys had Down syndrome. So, I shared this with my husband. He expressed sadness that they might not be able to do some things that other kids do... like play soccer, maybe. But, I told him not to worry. The boys would be able to do all the things we'd dreamed of... They'll walk. They'll talk. They'll run and ride bikes. They can play soccer if they want to. They'll go to school and get jobs. It'll all be fine. He thought about this, then recalled a conversation we'd had about Olivia when she was born, "Remember we said she can be whatever she wants to be. If she wants to pull weeds from people's gardens for a living, that's fine. Whatever makes her happy. Brian and Michael are no different. I don't see Down syndrome. I see two babies who need loving and feeding and diapering just like any other babies!"

These words have been our guide ever since.

This Motherhood is Bliss!

Do you know the definition of "bliss"? According to Webster it means, "complete happiness, blessedness, joy!"

There is no question that children with Down syndrome bring joy to the lives of everyone they touch. Parents of children with Down syndrome report the greatest level of parental satisfaction than any other parents. The one word I hear most often from parents of children with Down syndrome is "blessed"!

This morning, a woman dropping her child off at my boys' "special" school complemented me on how adorable my beautiful boys were. I don't know if her child had "special needs" or is "typically developing" as the school promotes an integrated environment which, by the way, I believe wholeheartedly in and is the reason I chose the school. Regardless, her complement caught me in a whirlwind of my own feelings. I suddenly found myself exclaiming -- with overwhelming joy like I've never felt before and nearly laughing with pleasure -- how absolutely amazed I am every single day at this gift I've been blessed with! I thrive on the happiness and love and joy they bring me... just being their mother. I am in awe of these 2 beautiful human beings. (She might have thought I was crazy but I think, mostly, she agreed, I'm blessed!)

Well, here's another mother who, from watching this video, I know feels EXACTLY the same way I do. My heart aches with joy for myself, for her and for all of us blessed with a child (or two) with Down syndrome.

http://www.youtube.com/watch?v=hVLtOjP1LB0