As most of you know, we announced in early April that we were happy to be expecting Hennebaby #5. As many of you also know, we got word shortly thereafter that this baby was at some risk for abnormality, according to my IPS screening results.
I suppose that it isn't fair to say "some risk." We were referred for genetic counseling after the positive result came in, and found out that this baby had a 50% chance (yes, 1 in 2) of having something called trisomy 18, which is a condition in which there are 3 copies of the 18th chromosome, instead of the usual 2 (one from each parent). We did our research and discovered that this was not a condition to take lightly. Our next step was to decide whether or not we wanted to have an amniocentesis done to have the condition either confirmed or ruled out.
For me, this was also not an easy decision. I had just had an emergency appendectomy at 15 weeks pregnant and did not particularly want anyone else poking around at my belly! In the end, I scheduled the test mostly to placate others, I certainly did not want to have it done.
Just prior to this test, we had our 18 week ultrasound scan. Everything seemed alright, but the baby was not showing all that the sonographer wanted to see. The heart was beating well, 143 beats per minute, and all looked fairly normal, except that the baby, at 18 weeks, measured 16 weeks and 2 days. A baby, particularly a Hennebaby, should not measure 12 days behind. I know it sounds like a tiny difference, but for a developing baby it is huge.
So, at 18 weeks and 6 days, I had the amniocentesis, where they used an ultrasound to find a pocket of fluid and a needle to draw it out. This sounded scary enough to me in the first place, but then the baby moved mid-test! They had to withdraw the needle part-way through the test and re-insert it again to finish drawing the fluid. It was, in all honesty, one of the least pleasant baby-related experiences that I have had.
The day after the test, I got a call from my midwife. She told me that the preliminary test showed a very high alpha fetoprotein (AFP) count of 74.1. The cut-off number to rule out open neural tube defects (spina bifida, etc.) is 5. My midwife went on to tell me that she was cancelling my appointment for later in the week pending the final results. I would supposedly hear back from her to reschedule once the chromosome test results were in. She told me that all signs were saying that "this baby is not normal," which really was not what I wanted to be told at that point. I got off the phone feeling quite abandoned and having no idea what to do next. From the sounds of things, this baby now had spina bifida or something like that! We were totally boggled, but also reassured by the things we read online which all said that it was highly unlikely to have trisomy 18 and open neural tube defects.
That was on a Tuesday, I was 19 weeks along. Two days later, on Thursday, I got a call from the genetic counselor, whose first words were "Is this a good time?"
That never means good news, but it really wouldn't have mattered where I was or what I was doing. We had forwarded our phone to my cell phone specifically to avoid playing phone tag.
The test results were in, and our little baby definitely has trisomy 18. Our little baby had, essentially, just received a death sentence. A full 80% of trisomy 18 babies do not live to full-term, and 10% more die during childbirth. Of the 10% who survive being born, most will only live for a few hours or days at most. We have found stories online of trisomy 18 babies who are still alive at age 4 or 5, but they are plagued with a multitude of medical issues and cannot walk, stand, or even sit on their own, nor can they speak.
We had yet another decision to make now: to continue the pregnancy or to terminate. To me, this was not a decision to be made at all, I could not imagine even briefly entertaining the idea of intentionally killing my own child. We had the discussion about it, but in my mind there was never a chance of it happening. I didn't really need to convince B, he shared my point of view and didn't press for it, a chance at living is still a chance, right?
Somehow, no matter how much I had tried to convince myself that the test would be negative, I was not surprised. Things had not felt right to me from the very beginning of the pregnancy. We found out I was pregnant at the beginning of January, but didn't tell family until late-March to early-April. We also found out that this baby was a boy, exactly what T had been hoping for (and asking me just about every day if we knew yet or not).
We were (are, actually) heartbroken. How could we grow four perfectly beautiful, wonderful babies and then have things go so horribly wrong?
The simple answer is that there was nothing that either parent could possibly have done, not done, or anything else that causes this defect. It just happens, a total fluke. It wasn't the medications that we were on, or vitamins that I failed to take, or anything else I could possibly think of.
I suppose that is better than spending the rest of our lives knowing that we somehow contributed to the illness of our own child, but it is shallow comfort.
So, although my midwife has still not called me back, leaving me feeling (still) quite abandoned, we have now been referred to the palliative care facility at CHEO, it's called Roger's House. Apparently it is quite good, not that it's the kind of place I hoped to ever need. We will be in touch with the NICU team if this baby is still alive when I reach 28 weeks, but we were also told that no extraordinary measures will be taken with this baby. If he is in distress, they will not intubate, they will not do any surgery on him. If he is in distress during labour, they will not perform an emergency C-section (the ONE good thing I could see here). The geneticist we saw put it well, that from this point on, what happens is up to him.
In the not so distant future, I will be going for a Level 2 ultrasound, which is more detailed than the regular ones and might tell us more about how this little tiny man is really doing. I am not all that optimistic, especially since I am still not feeling any movement. This is highly unusual for me.
Beyond that, we are waiting. Waiting to find out the "final" results from the amnio (which form of trisomy 18 he has), waiting to see my family doctor to find out what's going to happen with my care form this point on, as I think the midwife must be ruled out, and mostly waiting for Mother Nature to do whatever she is going to do to this poor little boy. In the meantime, we are trying to choose a name for him just in case he doesn't make it. More than anything, we are dreading the day when we have to tell T, R, E, and D that the baby that they are so very excited for is a boy, but that he is very sick and will not live.
I suppose that it isn't fair to say "some risk." We were referred for genetic counseling after the positive result came in, and found out that this baby had a 50% chance (yes, 1 in 2) of having something called trisomy 18, which is a condition in which there are 3 copies of the 18th chromosome, instead of the usual 2 (one from each parent). We did our research and discovered that this was not a condition to take lightly. Our next step was to decide whether or not we wanted to have an amniocentesis done to have the condition either confirmed or ruled out.
For me, this was also not an easy decision. I had just had an emergency appendectomy at 15 weeks pregnant and did not particularly want anyone else poking around at my belly! In the end, I scheduled the test mostly to placate others, I certainly did not want to have it done.
Just prior to this test, we had our 18 week ultrasound scan. Everything seemed alright, but the baby was not showing all that the sonographer wanted to see. The heart was beating well, 143 beats per minute, and all looked fairly normal, except that the baby, at 18 weeks, measured 16 weeks and 2 days. A baby, particularly a Hennebaby, should not measure 12 days behind. I know it sounds like a tiny difference, but for a developing baby it is huge.
So, at 18 weeks and 6 days, I had the amniocentesis, where they used an ultrasound to find a pocket of fluid and a needle to draw it out. This sounded scary enough to me in the first place, but then the baby moved mid-test! They had to withdraw the needle part-way through the test and re-insert it again to finish drawing the fluid. It was, in all honesty, one of the least pleasant baby-related experiences that I have had.
The day after the test, I got a call from my midwife. She told me that the preliminary test showed a very high alpha fetoprotein (AFP) count of 74.1. The cut-off number to rule out open neural tube defects (spina bifida, etc.) is 5. My midwife went on to tell me that she was cancelling my appointment for later in the week pending the final results. I would supposedly hear back from her to reschedule once the chromosome test results were in. She told me that all signs were saying that "this baby is not normal," which really was not what I wanted to be told at that point. I got off the phone feeling quite abandoned and having no idea what to do next. From the sounds of things, this baby now had spina bifida or something like that! We were totally boggled, but also reassured by the things we read online which all said that it was highly unlikely to have trisomy 18 and open neural tube defects.
That was on a Tuesday, I was 19 weeks along. Two days later, on Thursday, I got a call from the genetic counselor, whose first words were "Is this a good time?"
That never means good news, but it really wouldn't have mattered where I was or what I was doing. We had forwarded our phone to my cell phone specifically to avoid playing phone tag.
The test results were in, and our little baby definitely has trisomy 18. Our little baby had, essentially, just received a death sentence. A full 80% of trisomy 18 babies do not live to full-term, and 10% more die during childbirth. Of the 10% who survive being born, most will only live for a few hours or days at most. We have found stories online of trisomy 18 babies who are still alive at age 4 or 5, but they are plagued with a multitude of medical issues and cannot walk, stand, or even sit on their own, nor can they speak.
We had yet another decision to make now: to continue the pregnancy or to terminate. To me, this was not a decision to be made at all, I could not imagine even briefly entertaining the idea of intentionally killing my own child. We had the discussion about it, but in my mind there was never a chance of it happening. I didn't really need to convince B, he shared my point of view and didn't press for it, a chance at living is still a chance, right?
Somehow, no matter how much I had tried to convince myself that the test would be negative, I was not surprised. Things had not felt right to me from the very beginning of the pregnancy. We found out I was pregnant at the beginning of January, but didn't tell family until late-March to early-April. We also found out that this baby was a boy, exactly what T had been hoping for (and asking me just about every day if we knew yet or not).
We were (are, actually) heartbroken. How could we grow four perfectly beautiful, wonderful babies and then have things go so horribly wrong?
The simple answer is that there was nothing that either parent could possibly have done, not done, or anything else that causes this defect. It just happens, a total fluke. It wasn't the medications that we were on, or vitamins that I failed to take, or anything else I could possibly think of.
I suppose that is better than spending the rest of our lives knowing that we somehow contributed to the illness of our own child, but it is shallow comfort.
So, although my midwife has still not called me back, leaving me feeling (still) quite abandoned, we have now been referred to the palliative care facility at CHEO, it's called Roger's House. Apparently it is quite good, not that it's the kind of place I hoped to ever need. We will be in touch with the NICU team if this baby is still alive when I reach 28 weeks, but we were also told that no extraordinary measures will be taken with this baby. If he is in distress, they will not intubate, they will not do any surgery on him. If he is in distress during labour, they will not perform an emergency C-section (the ONE good thing I could see here). The geneticist we saw put it well, that from this point on, what happens is up to him.
In the not so distant future, I will be going for a Level 2 ultrasound, which is more detailed than the regular ones and might tell us more about how this little tiny man is really doing. I am not all that optimistic, especially since I am still not feeling any movement. This is highly unusual for me.
Beyond that, we are waiting. Waiting to find out the "final" results from the amnio (which form of trisomy 18 he has), waiting to see my family doctor to find out what's going to happen with my care form this point on, as I think the midwife must be ruled out, and mostly waiting for Mother Nature to do whatever she is going to do to this poor little boy. In the meantime, we are trying to choose a name for him just in case he doesn't make it. More than anything, we are dreading the day when we have to tell T, R, E, and D that the baby that they are so very excited for is a boy, but that he is very sick and will not live.