Wednesday, January 26, 2011

Growing Pains

[Note:  This is one of the letters that I posted to my friends and family on Facebook when we received Wyatt's inter-utero AVSD diagnosis and learned that there was a 75% chance of him having a chromosomal abnormality, probably Down syndrome.  These are rough, these are raw.  They are painful... and totally didn't have to be if I had any understanding about what DS was in the first place.  It is these early days that prompted me to start Down Wit Dat... to educate and to effect change.  Down syndrome is not something that needs to be grieved.  Ever.  -Jxox]     

So, to fill in the gaps, here's our latest update from the high risk ultrasound clinic at BCH. I do have to say, I love that floor. It's nice, it's clean, it appears to be well laid out and the nurses have been pretty friendly so far. I don't feel like I have to "out" myself every three minutes to get decent care. That is a good feeling.

Mr. Q and I went on our ultrasound adventure today; he, hopped up on Tylenol to break the fever that kept him home from school, me, flustered and running late. We breezed in, had a bit of a chat with my OB and the sonographer and put Quinn in a chair where he could see and still be quiet. The test itself took over an hour, which, aside from the echocardiograms, is the longest one I've had so far. I asked her ahead of time to give me a rough estimates of both weights, simply because I had no idea where they were with their growth. I was told by the tech that Wyatt is currently (approx) 3.9 lbs and Zoe is 3.5lbs. According to the chart in my head, that is pretty good for twins at 31 weeks. Once the test was done, we waited for the summation from the OB.

I hinted in my comments earlier that we got some hopeful news, some facepalm news and some weirdo news and that is exactly what we got. Yes, the AV hole is still there in Wyatt's heart and the one side of his heart is a teensy bit larger. The sonographer was also unsure whether she would have ever seen that ever, which is a testimonial to how good my fetal cardiology team is. That was hopeful, as it provides a little more reassurance to an area where it is needed. He also seems to have a little more fluid in his abdomen which could be anything, including a full bladder. As for the rest of the soft markers: There were none evident (as in seen). (Yay!) However, my OB was quick to point out that 50% of babies with Down syndrome have completely normal ultrasounds. (D'oh!). Truly, we are not going to know if he has DS until I am holding him and/or the genetic testing comes back on the cord blood (if he is Mosaic).

Zoe, not to be outdone by her brother, has fallen off the growth chart this time around. Generally babies stay on a nice, predictable growth curve unless there is a problem. With twins, IUGR is often a reality; there simply isn't enough room to grow. As it stands now, Zoe seems to have lost her growth rate and some amniotic fluid/space. I was told that we were going to monitor this very closely from now on (how much closer can we get? I thought to myself...) which would give us an indication whether this was an isolated incident or not (remember, I'm just getting over the flu). I was told that my C-section date has been moved to the 10th of March now and that may have to be moved up more if Zoe continues to not grow at the rate she should. In fact, they might have to take the babies even earlier than expected (which is not the optimum scenario for lung development) if this is the case. Already we were looking at delivery at 37 weeks, this could be pushed back to 36, 35, 34... and it is all wait and see. To make this short, all my biweekly ultrasounds will now be in the high risk clinic with the same sonographer and my OB in the next room. That way if I need an emergency C-section, I am already registered and just have to move down the hall. I'm sorry, but that rattled me a little bit, especially with Quinn sitting there.

To put a fine point (literally) on what was already an exhausting day, I had my first of two shots of Celestone (betamethasone), a corticosteroid that is used to speed up the lung development of preterm babies. It helps the babies lungs produce surfactant, which is a lubricant that keeps the wet tissue paper of your lungs from sticking together and collapsing; full term babies produce this, but preemies do not as the lungs are not developed enough yet. Just as a side note, I have had shots for everything. I've been bitten, hit, lacerated, exposed to and generally covered in any bodily fluid you could imagine in my career. I just take the stitches, the blood work, the shots just as a course of action and go home and drink a beer. Up until today I thought that the Hep B antibodies (both cheeks!) were the worst ever, but man! That Celestone stuff stings! There is one more shot in my future, so I'll be limping on the other side today. Quinn thought that was hilarious and that Mommy was an extra "brave girl". You have no idea, wee man.

"If it ain't one thing, it's another." According to parents of twins I know, that is (or should be) the family motto for everyone with multiples. I know what will happen, will happen and it is totally out of our control. I'm just a little concerned as I'm running out of things to paint. ;)

Tuesday, January 25, 2011

Walking Softly

[Note:  This is one of the letters that I posted to my friends and family on Facebook when we received Wyatt's inter-utero AVSD diagnosis and learned that there was a 75% chance of him having a chromosomal abnormality, probably Down syndrome.  These are rough, these are raw.  They are painful... and totally didn't have to be if I had any understanding about what DS was in the first place.  It is these early days that prompted me to start Down Wit Dat... to educate and to effect change.  Down syndrome is not something that needs to be grieved.  Ever.  -Jxox]    

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 chromosomal 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 syndrome. We all generally have an idea of what this entails, but here's the Wikilink anyway: .

Trisomy 18 known as Edward's Syndrome. It has a very low survival rate. .

Trisomy 13 is also known as Patau Syndrome. It also has a very low survival rate. .

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: 


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 chromosomal abnormality

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.

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 chromosomal defects, yet it has been associated with renal and cardiac problems. Together with other markers, it increases the risk of finding a chromosonal problem.

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.

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 DS. There has also been associations with other abnormalities that are not chromosonal in nature (ie: skeletal, etc).

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

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.

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 chromosomal disorders.

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

Useful in predicting Down syndrome. Also occurs with situations such as Fetal Growth Retardation.

See short femur length.

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

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

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: 

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.

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.

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.

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 (DS) 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:

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

Can occur with or without genetic involvement.


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.

Saturday, January 15, 2011

The Waiting Game

[Note:  This is one of the letters that I posted to my friends and family on Facebook when we received Wyatt's inter-utero AVSD diagnosis and learned that there was a 75% chance of him having a chromosomal abnormality, probably Down syndrome.  These are rough, these are raw.  They are painful... and totally didn't have to be if I had any understanding about what DS was in the first place.  It is these early days that prompted me to start Down Wit Dat... to educate and to effect change.  Down syndrome is not something that needs to be grieved.  Ever.  -Jxox]   

I did promise an update when news became available. I'm not so sure that the time is now, simply because I'm not sure if the news we now have is much different from what we had before. I do know that more than a few of you are really looking for this, so here is what I know. Currently, we do feel a tiny bit reassured compared to last weekend, if only from having a few lights shone into dark corners.

First and foremost however, I want to thank those of you that took the time to comment, post on my wall or to send me a discreet mail. Your words of encouragement helped me get through what was a very long and exhausting day. One of the more surprising contacts was from a Nursing classmate of mine who just happens to work in the high risk pregnancy unit at Mount Sinai. Thank you K, for all your advice, intervention and information. You really validated my fears and confirmed a lot of what I already knew. I can't thank you enough.

The trip to Sick Kids on Friday was a learning experience on many levels. I had never been there before and was really taken in by the layout and the open concept, kid and parent friendly vibe. My sister in law Joanne came with me to the fourth floor where after a brief wait, I had a very long fetal echocardiogram. It was made longer as Wyatt decided to curl his arm over his chest as if to hide the very organ we were after. The doctor himself came in and checked out a few things before we were invited across the hall to what was obviously the consultation room.

My own heart sank as a nurse followed him in the room. Usually in these things the doctor does his or her presentation and the nurse is there to basically mop up afterward. We officially call it "health teaching" and "supportive care" but in reality it is usually "finish" and "damage control" (at least it is in the ER). I was pretty sure that I was not going to like what was coming next. The doc began by explaining that yes, my unborn son had AVSD, a hole in his septum that would have to be closed surgically after he was born. Upon birth, he would probably do very well for a month or so before going into congestive heart failure. First he would be tired, have difficulty feeding and slowly worsen, his lungs would fill with fluid and he would fight for air as his heart inadequately pumped mixed oxygenated and deoxygenated blood around inside the heart. He would have to start on Lasix then, a diuretic that would help him eliminate the excess fluid while I tried to keep him hydrated and fed. Somewhere between the age of 3 to 6 months, he would have open heart surgery at Sick Kids to repair the hole. The good news, if any, is that the hole is reasonably small and easy to fix; the valves they were unsure of and would be until they went in, however those too were easily rendered functional if not. Wyatt may need follow up surgery as he and his heart grew, but that would be yet to be seen. He would be in hospital for a little over a week after the procedure; while in the CCU parents could be with him (although I am not sure if we could stay over) but after a couple of days when he was transferred to his private room, his twin Zoe could room with us. Unfortunately, poor Quinn could not, however they have lots of family resources that we could explore. Quinn could still visit, which I am sure will be a comfort to him.

The high possibility of chromosomal abnormalities both the doc and the nurse acknowledged, but they both stated that amnio at this point was, in their opinion, out of the question as it would put me in preterm labour and endanger both the children. They acknowledged my fears, yet both had a "we'll wait and see" attitude. The other small good tidbit that came out of this meeting was that the doc did not feel Wyatt was in any immediate danger upon delivery so I could continue to have him and his sister at my home hospital, rather than Mount Sinai. It's a small thing, but I'd rather have my babies in my comfort zone. He concluded the interview, the nurse handed me some resources (most of which I had visited already) and Joanne and I made our way home.

After a brief visit home to have lunch with Quinn and Bill, Joanne and I headed to my OB appointment with a copy of the fetal echocardiogram results. We discussed everything that had transpired since our last meeting; she was more than supportive. She let me know that 50% of all congenital heart defects are missed on ultrasound, so us knowing about this one ahead of time was a little bit of a blessing. In other words, we wouldn't have to find out by dashing to the ER with our blue son at 3am. (I'll accept that as a positive). We talked about the various possibilities for abnormalities: Trisomy 21 (Down syndrome) or Trisomies 13 and 18 (Death, basically). I asked her if we could go through all the ultrasounds up until then, she smiled an said that she already had, once she got the initial fetal echo. There had been no mention of any gross abnormalities, any organ issues, no rocker feet, no very small fetus (Both are about 2 lbs right now) that would directly indicate Trisomy 13 or 18. (Positive tidbit number 4...) That is, until the secretary, on cue, handed her the report for the last ultrasound that I had at BCH where the tech noted that Wyatt's one kidney was slightly enlarged. (Very slightly, which could be significant or not, depending on other things... but that would be the universe f☠cking around with me again.)

Trisomy 21 however, is a bit harder to detect and you really won't ever know until the baby is in your arms. There is a list of "soft markers" such as the nuchal transparencies that I mentioned in my previous note, femur length, etc. that you can look out for but they alone do not make for a positive diagnosis (especially if you are dealing with Mosaicism). When I told my OB about their amnio recommendations, she responded with "I'll do it if you want", but by the look on my face she knew that I was not about to risk both of the babies. Apparently it is also possible to do it at about week 35, but with my new Section date of March 11th, I didn't see the point of the procedure two weeks before they were to arrive anyway. She was very sympathetic to my questions and relayed how she had all the soft markers for her first born and like me, was a nervous wreck. She even told me that at the C-section, her first words were not "is it a boy or a girl" but "does it have Trisomy 21?". We came up with a plan to have my next bi-weekly ultrasound in the high risk clinic where we could go over all the anatomy carefully and check for these sorts of things. I appreciated that... It would allow us to thoroughly look and (hopefully) get at least the illusion of piece of mind. It would also allow me to feel more involved as I would be concentrating on the medical side, another comfort zone for me.

That's all there is for an update. Other than hurry up and wait, we have a confirmation of diagnosis, four tidbits and the slight promise of some hope.

We'll take anything we can get at the moment.

Thursday, January 13, 2011

It Only Hurts When I Breathe...

[Note:  This is one of the letters that I posted to my friends and family on Facebook when we received Wyatt's inter-utero AVSD diagnosis and learned that there was a 75% chance of him having a chromosomal abnormality, probably Down syndrome.  These are rough, these are raw.  They are painful... and totally didn't have to be if I had any understanding about what DS was in the first place.  It is these early days that prompted me to start Down Wit Dat... to educate and to effect change.  Down syndrome is not something that needs to be grieved.  Ever.  -Jxox]   

This is the hardest thing I've ever had to write.

By hard, I don't mean actually getting the words in some semblance of logical order as I've been waking up at 3am writing it in my head for about a week now. It won't leave me alone and if this is what it takes to get myself organized, than so be it.

I should probably explain a little more...

Last week was one of the roughest I've ever had to experience. On Monday, my Aunt passed away... by Wednesday, one of my friends/colleagues had been in a horrific MVC and it was uncertain whether she would pull through. Thursday my world fell apart at a doctor's appointment and Friday was the funeral. I've been a disaster since.

In order to make any of this make sense, I have to be chronological and some of you need a little background information.

After a year of trying to give Quinn a sibling, we gave up last summer. By July I was pregnant and by September we knew it was twins. Once the initial shock wore off, we did the usual screening tests known as Integrated Prenatal Screening or IPS. I was very distressed a few days later when my family doctor called to let me know that Twin B was fine, but Twin A had been flagged as potentially having Down's Syndrome. I was stunned, especially when I went back to the ultrasound pics I had been given and consulted the fetal measurements that I had covertly copied down. One of the measurements they consult is known as the nuchal transparency which is basically the amount of fluid that collects behind the baby's head at the neck. The larger that number, the higher the risk of Down's. Off the top of my head, I believe the cut off is 3mm; Twin A was 2.5 (Twin B was 2.1 and if memory serves, Quinn was 2.6). Not an alarming number. I did some research and scanned the Ultrasound images until I nearly went blind, looking for nasal bones and a few other clues that might give me a little hope. To me, I must have flunked the blood work as the babies looked fine. My doctor suggested we go for genetic counseling and we took the first appointment at Credit Valley.

The genetic counselor was quite kind and explained to me that the blood work was pretty much irrelevant as I was having twins. Furthermore, with my age (38 at the time), I had a 1:125 chance of having a baby with Trisomy 21 (Down's Syndrome). With my test results, I had already beaten the odds as my results were 1:300. If we were really concerned, we could arrange to have amniocentesis, yet with those odds she wouldn't even recommend that. Sean and I looked at each other an said no thanks as the odds of miscarriage with the amnio' were twice that of actually having a Down's baby anyway. Besides, they wanted to test both twins and the idea of something happening to one of them distressed me greatly. We left the appointment much happier, with the knowledge that yes, we may be holding a Down's baby in several months time, but the odds were on our side.

This all took place just as the nausea kicked in; I spent (literally) four months with my head in the toilet. Since my Dad was undergoing his chemo at the time, we were both pretty pale and easily nauseated. I opted for no meds but I was pretty close to taking up Dad's offer of a couple of Zofran on many occasions. Coupled with shift work in ER in the 'Pod and a few other pregnancy symptoms, I was steadily losing weight and miserable as hell. The nausea let up some time around my birthday at the end of November and it was a pleasure to be able to eat and drink again. My mother's family threw me a lovely baby shower and the twins became real again... finally I was going to be able to enjoy this pregnancy and the promise of joy that it offered. We even chose names: Twin A, the boy was to be Wyatt Donald (the Donald after my grandfather) and Twin B, the girl, Zoe Margaret (the Margaret after Sean's late mother). They became real, separate individuals. As their movements became stronger, you could also start to differentiate a little bit of personality as well.

My belly grew larger, my steps became slower, my breathing more laboured and my temper shorter. I made it through Christmas and by New Years my OB took me off work. Well, as far as we know as Occ. Health seems to be mandated to things difficult, but I digress. She gave me a big lecture on relaxing and how I should try and sleep as much as I can as this was the easy part (she should know, she has had twins herself). Since Sean was actually able to go with me for a change, she made sure that he knew I was to be calm and reasonably stress free or as she put it "you're going to end up one of those patients in your pod". Duly noted. We went home, Sean took over most of the household chores and I continued on with my nursery project in between naps.

Then last week happened. One bombshell after another, with little frags here and there such as flunking my sugar test and whatnot. The biggest shocker was Thursday...

You have to understand that so far in this pregnancy I have seen: My family doctor, my OB, the guy filling in for my OB, A cardiologist (and worn a Holter monitor for 48 hours), a genetic counsellor... I've been having ultrasounds every two weeks since November. been seeing my OB bi-weekly for the same amount of time. Going to appointments is almost a full time job in itself for me. I mentioned to the genetic counsellor about my brother's Marfans and since that time everyone has been asking me about that as well. I wasn't all that surprised then when my OB wanted me to see a pediatric cardiologist that also does the fetal cardiology for our area. Naturally, I assumed that it had to do with the Marfans and I wasn't worried at all. I had a lovely time in his office watching his fish and we had a nice chat about Marfans and my brother before he sent me across the hall to have a quick echocardiogram done on the babies (for those not in the know, it's just a detailed ultrasound of the heart). Since I have been ultrasounded to death, I still wasn't worried and prepared to get all gooey.

After the echo, he called me back into his office. He let me know that Twin B (Zoe) was ok, but Twin A (Wyatt) had (most likely) AVSD or Atrioventricular Septal Defect. In other words, my Wyatt has a hole in his heart, one that if it didn't close on it's own, would cause him to have surgery at 6mos of age or so. To make matters worse, he explained that 75% of babies that have this particular heart defect also have Chromosomal Abnormalities. He cited Trisomy 21 (Down's Syndrome) as the biggest incidence. That was about the point I started to cry. He apologized profusely, and I let him know that it just wasn't that, my week had been horrible and I let him know why. He also works in ER and was saddened to hear of our colleague. Then we both got misty and it was downhill from there. He let me know that he was taking the images to Sick Kids the next day to share with some of his colleagues and if possible, fast track an appointment. I agreed, letting him know I would be out of town the next day at a funeral and could he please leave a message. I took a cab home as I could barely stand.

I got in the door and wailed my freaking teeth off for the next 15 minutes before I could get it together enough to call my husband at work and my parents before they left for the two days of visitation and funeral. I basically threw it at my parents matter of factly as that was the only way I could get it out. Sean... was a harder tell. What can I say? I had shock and despair and mother guilt and all sorts of nonsense whirling around in my head. You have to understand that this is one of those times where being a nurse is not a good thing. You comprehend totally in an instant and are able to forsee potential and actual problems and what interventions you will have to employ to get the best outcome. It makes for a very busy brain, especially when you are drawing diagrams and health teaching in your sleep. I'm only sleeping 3 hours consecutively now anyway...

I went to the funeral and managed to keep it together for the most part and focus on the loss of my Aunt. On the way home I borrowed my brother's cel and checked the messages. The babies cardiologist had indeed left a message, saying that he was getting them to book me in for next Friday (as in tomorrow) and right after was a message from the booking girl. So tomorrow, I have to be at Sick Kids at 9am for another echo and an indepth consultation with a cardiologist. Then it's fly home to feed everyone and then go to my OB appointment in the afternoon. It's going to be a full day...

So now, much as it's been since Friday, we wait. We wait to get any slip of information that might be helpful or might provide a fragment of hope. AVSD in itself is not a death sentence and yes, neither is Down's. I realize this. Both are going to be fucking hard though. Both are also the second best scenario when you take into account the other chromosomal problems that AVSD is associated with. Aside from Trisomy 21 (Down's), there's also Trisomy 18 (Edward's Syndrome) which IS a death sentence, Polysplenia which is a drawn out death sentence and carries with it many horrific defects of the organs... and quite a few more that I could scare myself more with. On the other, non chromosonal side there are also things like Tetrology of Fallot or "blue baby syndrome", which could also occur with any of the above.

Ultimately, we don't know what we are facing. We don't know if amnio is an option right now, we don't know if we'd take that option, we simply have no idea. That, right there, is where the fear comes from.

Why am I doing this? It's really the easiest way to tell as many of my family and friends as possible. I can't keep explaining all of this over and over and fucking over again as it is just too much for me to handle properly right now. I also find myself having to repeat myself frequently and since people tend to retain more of the written word than the spoken, it was another easy solution. The "telephone" phenomenon has pretty much guaranteed that I can't trust others to pass this on properly as there are specific details that are easily missed.

So there you have it. It's a lot to digest and I'm trying to do so to keep from going over the top. I'm grumpy, I'm tired and I'm trying to stay calm. I also really don't need to hear any crap about still having one healthy baby, etc, etc as that is surely not the fucking point. With nine weeks to go, tops, we don't know if we are planning for one baby or two. We don't know where I will be delivering, who will end up in what hospital... if we are going to be planning a funeral. We simply do not know.

That, in itself, hurts more than anything.

You'll forgive me while I hope and pray for the other 25%...
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