[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%...
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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