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.