Walking Softly

[originally posted to Facebook Tuesday, January 25, 2011 at 9:56am]

Well, today is a "special" day as my son would say. Today is the ultrasound in the high risk clinic where we scan my little Wyatt for any and all "soft" markers for chromosonal problems. These clues are known as soft simply because their presence isn't diagnostic, but rather potentially indicative at best. There are also a lot of ratios and probabilities to consider. To be honest, the math makes my head hurt.

Once again, for those of you playing along: Trisomy 21 is probably better known to you as Down's Syndrome. We all generally have an idea of what this entails, but here's the Wikilink anyway:

http://en.wikipedia.org/wiki/Down_syndrome .

Trisomy 18 known as Edward's Syndrome. It has a very low survival rate. http://en.wikipedia.org/wiki/Trisomy_18 .

Trisomy 13 is also known as Patau Syndrome. It also has a very low survival rate. http://en.wikipedia.org/wiki/Patau_syndrome .

Quite a few of you have asked what some of the markers are, and I will do my best to provide an answer, if not a link that explains it clearer and more concisely than I would. So, saddle up and get yer learn on.

These markers are generally used early for screening purposes:

ECHOGENIC INTRACARDIAC FOCUS

http://en.wikipedia.org/wiki/Echogenic_intracardiac_focus

Basically a mineral deposit in the heart that may or may not appear bone like. 88% are only in the left ventricle, 5% are only in the right, and 7% are biventricular. It is suggested by current research that the biventricular, right sided, and generally less popular types are more indicative of chromosonal abnormality

PYELECTASIS

http://en.wikipedia.org/wiki/Pyelectasis

Dilation of the kidney where the ureter meets it. This can happen on it's own, however in the presence of other markers, it become significant.

SINGLE UMBILICAL ARTERY

http://en.wikipedia.org/wiki/Umbilical_artery

There are supposed to be two arteries and one vein in the umbilical cord; the arteries take away the deoxygenated blood from the baby to the placenta. Alone, it is not indicative of chromosonal defects, yet it has been associated with renal and cardiac problems. Together with other markers, it increases the risk of finding a chromosonal problem.

ECHOGENIC BOWEL

http://www.ehow.com/about_5147504_echogenic-bowel-syndrome.html

This is the fetus' bowel showing up as bright as bone on the ultrasound. Alone, it has been associated with cystic fibrosis, infection, bowl malformation, intra-amniotic bleeding and intra-uterine growth retardation. Together wih other markers, it shows an increased risk for Trisomies 13, 18, and 21.

THICKENED NUCHAL FOLD

http://en.wikipedia.org/wiki/Nuchal_scan

Here we are with our friend the nuchal transparency again. Since this is done earlier in the pregnancy, I don't think it will be looked at today. One more thing of note: it was explained to me by a nurse very much in the know that since Wyatt and Zoe's were done much earlier than Quinn's, the results are a little more significant (ie: larger numbers on a smaller baby). Alone, it can also be indicative of congenital heart defects (which we knowWyatt has already), or it can be a flag for Down's. There has also been associations with other abnormalities that are not chromosonal in nature (ie: skeletal, etc).

VENTRICULOMEGALY (MILD)

http://en.wikipedia.org/wiki/Ventriculomegaly

Dilation of the ventricles in the brain. Does occur on it's own, but incidence with Down's Syndrome (Trisomy 21) is very much increased. Can resolve on it's own as well, although unlikely.

CHOROID PLEXUS CYSTS

http://en.wikipedia.org/wiki/Choroid_plexus_cysts

Found on ultrasound between 14 and 24 weeks gestation. 50% of fetuses that have this have Trisomy 18; inversely 10% of those with Trisomy 18 will have this as the only marker. As far as I know, this has not been identified in our case.

ENLARGED CISTERNA MAGNA

http://en.wikipedia.org/wiki/Cisterna_magna

http://www.radswiki.net/main/index.php?title=Mega_cisterna_magna

This part of the brain collects cerebral spinal fluid. When dilated without the presence of ventriculomegality (but with the presence of other markers) it is indicative of Trisomy 18. It is also rarely seen in the presence of other, non chromosonal disorders.

These markers are very useful in later comprehensive ultrasound (that I will be having today):

http://en.wikipedia.org/wiki/Human_skeleton

SHORT FEMUR LENGTH

Useful in predicting Down's Syndrome. Also occurs with situations such as Fetal Growth Retardation.

SHORT HUMERUS LENGTH

See short femur length.

NASAL BONE

Absent or short nasal bones increase the risk of a Trisomy 21 finding.

CLINODACTYLY

http://en.wikipedia.org/wiki/Clinodactyly

A bending or kink in the fifth or "pinkie" finger towards the rest of the fingers. This is found in 60% of people with Downs. However, it can be found isolated in the general population as well.

ROCKER FOOT

http://en.wikipedia.org/wiki/Rocker_bottom_foot

Basically the foot looks like a rocker on a rocking chair. This is generally found with Trisomies 13 and 18.

These markers that have NOT been established for practice (due to lack of research, mainly) but might be useful:

BRACHYCEPHALY

http://en.wikipedia.org/wiki/Brachycephaly

A flattening of the head. Unreliable as there isn't enough variance between "normal" and Trisomy 21. More research is needed as there may be a link for Trisomy 18.

INCREASED ILIAC ANGLE

http://en.wikipedia.org/wiki/Human_skeleton

It has been noted that there appears to be an increased incidence in flared iliac bones in Trisomy 21. More research is needed in the general population.

SMALL EAR LENGTH

Infants with chromosonal abnormalities generally have small, low set ears. It's a bit tricky to see on an ultrasound, but ear length can be seen occasionally.

SANDAL GAP

This is a separation of the big toe and the next (as flip flops or thong sandals would do to your foot). 45% of children with Trisomy 21 (Downs) have this although the statistics vary. It is also unsure whether this occurs in the regular, non chromosonally abnormal population.

Other findings that we (thankfully!) have not run across:

OMPHALOCELE

http://en.wikipedia.org/wiki/Omphalocele

A protrusion of intestines, liver, etc OUTSIDE of the fetus' body. Occurs with Trisomy 13 and 18.

CLEFT LIP/PALATE

http://en.wikipedia.org/wiki/Cleft_lip

Can occur with or without genetic involvement.

MENINGOMYOCELE

http://en.wikipedia.org/wiki/Meningomyelocele

POLYDACTYLY

http://en.wikipedia.org/wiki/Polydactyly

Extra fingers and/or toes.

And there are more, such as clubfoot, overlapping fingers, clenched fists, etc, etc, etc. I unfortunately do not have the statistics on these.

*************************************

Whew! That's a lot to absorb and I hope it helped. I hope the ultrasound brings us a little piece of mind as well as this is the stuff that keeps me awake at night. Once again, it doesn't always pay to be a nurse...

As a good friend of mine pointed out the other day "hang on to hope... that's what it's there for".

Trust me, we plan to.

Drinkin' and Swearin'

I swear a lot.

A fuck of a lot.

Most people swear, I know, but I like to think of myself as a vulgarian. One of the last True Vulgarians. My friend Tracy and I are the last of this dying breed; we string together profanity as naturally as a stoned hippy strings beads. Not many people live in a Cockafuckatropolous, but by god, I do.

I have come by my swearing honestly enough: Dad was an electrician and dabbled a bit with the profanity himself. He once called my brother a "Bastardass" and liked to come out with things like "Holy Jumpin' Syph'd up Christ!" Truly, the genes come from his side. Nursing brought me to a whole new level of profanity. I didn't start using the "C" word (yes, THAT one!) until I became an RN... now I let it fly with an alarming frequency. I used to go into the med room and kick things and swear my head off. Now I have my "own" office. Unfortunately, there is a big window and some of my patients can read lips. Whatfuckingever.

Now I'm a MOM. I tried really hard when he was a baby to tone it down, but I always managed to rationalize it by "he's too little to understand". Now he repeats things like a demented parrot and I'm still trying to clean up my act. The other morning at breakfast was a perfect example. Hubby made Eggs Benny (yay!) and the Hollandaise ladle was there for any takers. Quinn gave it a good go and then offered what was left to his Dad. "Lick it, Daddy!", he said, innocent eyes shining. "Yeah! Lick it up, Bitch!" is what flew out of my mouth.

It hung in the air like a shot duck before it plummeted to the table. Without missing a beat, my son said "Yeah Daddy! Lick IT UP BITCH!!". Yes he did. My darling little cherub, with his eyes still shining, repeated it at the top of his lungs, with the window open. Over and over and OVER again for no kidding, 20 mins.

He already calls Schoolhouse Rock "The Grown Up DVD". When Children's Aid finally comes to the door, I know how this is going to play out... He learned the phrase "lick it up bitch" from Mommy and Daddy and then we all sat down to watch the grown up movie. We're fucked.

I can't drink that much any more, but you better believe that there are days when it calls. Loudly. That's why I was so happy to find my latest addition to my recomended read list: Moms Who Drink and Swear. It started out as a Facebook group (one that I will be as sure-as-shit joining as soon as I get home) and swelled quickly to the monster it is now. It is funny. There are T-shirts.

Fuckin'-A.

Comfort Levels

Been a while.

It hasn't been for lack of trying either... I've just been in one of those ruts lately where I slow down for a minute to catch my breath and what pops into my head really isn't worth repeating, especially in mixed company. Life, well, it's been a little too interesting lately to be comfortable.

I'm not one of those people that has to have everything tightly compartmentalized; those people tend to go down like the Titanic with every little bump. I usually try to go with the flow. However, when aspects from my life (or rather a relatives life) start spilling into my work life, it tends to make things more than a little uncomfortable. That generally causes my work life to overflow into my home life again and it becomes quite a vicious circle. There has been much consternation as of late... sleep has been lost, doughnuts have been consumed... its been a mess.

There always has to be one of those moments that comes so out of the blue, it leaves you scratching your head. (Why is that?) Mine came in the form of a paranoid former colleague (and supposed friend) who gave me a verbal spanking for attempting to do my job (my mistake, evidently was using it as an excuse to chat up old "friends"). I'm not going to pretend to understand where this person is coming from, and to be honest am not interested in doing so. I just know that her little diatribe really hurt my feelings... but, if the truth be told I shouldn't be surprised. If you keep a vicious old dog, one day it will bite you.

One can't overlook the usual suspects as well: fatigue, lack of money, unpacking woes, family stress... it all adds up. I talk to so many people in a day and am the bearer of so much information that I feel cluttered. It's as if all that energy sticks to me like velcro and weighs me down. I can feel it as I walk, like I'm covered in a million post-it notes. You can almost see them flapping in the breeze some days, I swear. It's an awful feeling, one that makes me quite isolative.

To keep the boogums at bay (and it has been a dreadfully long winter), I've been finding much solace in my garden planning. Although I don't have a lot of money at the moment, I'm also spending a lot of time online looking for pieces/solutions/stuff for the house. This has really helped, actually, as I can now budget and plan for these purchases and I know I have just the right thing, instead of picking something up and finding a better one down the road. Its just having the patience to save up for it. I've found a third project to round things out a bit: Quinn's birthday party. Since I may have only a few minutes a day to think about these things, I've taken to carrying a soft covered binder with me; my "project book". That way, if I come up with something while I'm at work, I can jot it down for later or spend a few moments of my "break" time contemplating something organized. That helps tremendously with that cluttered feeling.

Things are brightening over all, however. Every day seems a little better, as the days are longer and warmer. I went out into my garden on Saturday and was delighted to see little green things poking through the soil. I have no idea what will grow in the existing gardens this year, so its a bit like Christmas... but without the eye tic. The air is fresher and full of promise and my lawn is greener every day. I have a brand new leaf rake and some pruners. The first warm day this week, when the grass is not too wet and I'm not working that night, you'll find me in the yard, raking and pruning. That will go a long way to shake the "psychic clutter" that I've accumulated lately as well. Physically I'm much improved; I now am only out of breath when I go from the basement to the top floor. That was a big milestone. I'm also a few pounds lighter, and plan to be much more so in the coming months.

The trick, as always, is in the balance.

Now, if I can only find something to help me cope with all this salad...

Just a Few Seconds

It's still early, but my morning has proven too "interesting" already...

Quinn woke up early this morning, apparently after a bad dream, screaming "Mmmmoooommy!" and I couldn't get out of bed yet as my work day yesterday was one of the more exhausting ones. When I did manage to shuffle out to the living room I found out that his first words to Daddy this morning were "I miss Mommy". My eyes immediately welled up as I know my current schedule and the upcoming move are really affecting him. No guilt there, people... In any event, after a half hour of cuddle time, it became a fight trying to get him dressed and out the door to daycare. Sean actually had to rip him off my neck as they were already late. As I listened to my son screaming all the way down the hall, while waiting for the elevator and then fading off into the distance as the elevator descended towards the garage, I thought to myself "this parenting thing is NOT easy".

I grabbed a drink, sat down in front of the computer and starting sifting through my email. Quite a few jokes from friends... a bit of spam... and then a note from my cousin. As I read her words, I could feel the tears threatening to spill over again. This parenting thing is NOT easy... not by a long shot. At the risk of offending her (as I have not asked her permission to do this), I will reproduce her note here, word for word.

"Last night Bill and I were driving along Montreal road towards Orleans with Liam [their one year old] and Fritzie [the dog] when all of a sudden, out of the blue, a young man (19 years old) was airborne heading straight for our car ( I thought he was on a skateboard at first but later found out it was a piece of car that followed him). He had been hit by a car in the opposite lane and was thrown 30 feet into our lane. He landed just a few feet short of our vehicle on the pavement, we slammed on the breaks. It was like dead weight hitting the ground....I can only imagine he lost consciousness when he was hit (the car was driving the speed limit apparently) and it was a large Lincoln/Crown Vic type car. He did not respond when Bill yelled asking him if he was alright, he was barely breathing. In the meantime I called 911 while Bill stayed with him as other onlookers gathered around the scene. The fire department, police, ambulance showed up in less than five minutes and took him away. Apparently, both lanes had a green light and this young man with his Ipod on ran across the street (on a no walk signal) to get to the class we assume - it looked like he was a Police Services student at the college over here. We heard on the news last night and this morning that he is still in critical condition.

We really hope he makes it. If you don't mind saying a little prayer for him that would be nice. As I was rocking Liam to sleep last night I realized just how precious life is and how it can be changed or taken away instantly, without warning. That 19 year old boy was some other parent's baby lying in the middle of the road - I couldn't help but think about the call his parent's got shortly after that accident. And, I was awake thinking about how in this day and age we're so afraid to touch people (especially where blood is involved) for fear of contracting AIDS, hepatitis, and other contagious diseases. All I kept thinking was..... if that were Liam or any other member of my family I would desperately want someone to not only sit by them but to touch them and hold their hand. It's sad that we can do that as openly anymore. "

I immediately felt for this young man, for his parents. My colleagues with older children always tell me that you never stop worrying about them no matter what age they are. This young man appears to have made a stupid choice and quite possibly will lose his life over it. I wonder if he got along with his parents. I wonder what the last conversation he had with them was. I wonder if he was happy, had a girlfriend, had friends, had hobbies... or if he felt alone, abandoned and walking into traffic with an Ipod wasn't the accident that it seems.

Immediately after this thought, my sick sense of humour pictures him in the afterlife and the irony of "the unobservant police services student being hit by a Crown Vic" giving this kid and the boatman a good laugh. I hope so. I find a little comfort in this. Coping mechanisms? Check.

I do really feel for my cousin, as she and her little family were trundling along happily until this young man was literally thrown in their path. They are not doctors or nurses... or security or cops or EMS... they are not accustomed to the brief intersections we make into others lives. We pop in, usually after tragedy, do our thing, pop out again and have little concept of the impact we actually make on people. I know there will be quite a few of all of those professions reading this. I also know many of you will take in a little bit of air, think "Wow. That's awful. Hope he's ok." and then move on to the next thing. We leave the facts to the news and the emotions to the grieving family. We do this for survival. We do this to keep our ghosts to a minimum.

That is, until it is our family member, our child.

My mommy-guilt was in full tilt boogie this morning, but it is nothing compared to the vigil that this boy's mother now probably keeps. Parenting is a rough sport... and it is stories like this that remind us how rough it can actually be.

It only took a beat or two for this young man to make his choice... one that has changed many lives, including his own, forever. Hug the little ones (and the big ones as well) a little tighter this morning.
That only takes a few seconds too.