January 4, 2013
considered getting a second opinion. Maybe go to Boston or to the
Catholic hospital in town so maybe they wouldn't be so quick to offer an
abortion. We have already been to the best facility in the state. If
we went to a less-equipped place, they would refer us right back to
where we had gone already. Boston would tell us the same thing. We
needed more information and despite our vow to never set foot in the
hospital again - we went back.
There's a blood test
they can do on me called MaterniT21. It's only being performed by a lab
in California and it takes two weeks to get the results. It's intended
to look for Trisomy 21 which is Downs Syndrome. When the baby's blood
cells break down, some of the dna material comes out in my blood. They
can also look for Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau
According to the internet:
test is most accurate at detecting T21 (Trisomy 21). A little less
accurate for T18 and less accurate for T13 but still about 92% accurate.
with T18 are not expected to survive more than a week. Babies with T13
are given about a year at best. There is a range of severity with
these conditions - partial, mosaic and full. Some babies get all the
markers for their condition. I can't find an exact list for each
diagnosis. There are kids with full Trisomies that survive. Some are
partial and don't.
January 14, 2013
obstetrician called me with the results from the MaterniT21 test. Our
baby has Trisomy 13. The test doesn't indicate whether it's partial,
mosaic or full. But there is little doubt that the baby has T13 -
I'm really wishing at this point that
I had not bothered to talk to the genetic counsellor when I went in for
the blood test. I told her the information I had found online and I
knew she had already told my OB that she suspected T13. She advised me
that to expect the baby to live past one year was very optimistic and
that six months was more likely. She also warned me that we probably
would never take the baby home from the hospital if we made it to full
term. Insert that phrase after everything the doctors tell us 'if we
make it to full term.' In this lawyer-friendly society, they add that
phrase after every sentence so that we won't get our hopes up and sue
them if I have a miscarriage.
And here I was just hoping not to have the worst of the three diagnoses.
Too much information to process.
January 17, 2013
went to see my OB and we had a long conversation about our options. He
is not afraid to just talk to me. He doesn't warn me every other
second that I might not go to term. He has been researching the
statistics and shows me a report that says a lot of the medical
profession is of the opinion that these babies are not worth saving but
that this attitude is not universally accepted because when there are
interventions, there are success stories.
the options before us. We have taken abortion off the table and it has
now been labelled medical termination even though MY health is not in
jeopardy. Once we establish that my partner and my doctor and I are in
this for as long as nature allows - we have two options. Do nothing.
Or do something/everything in our power to keep this baby alive after
I walked out of the appointment with renewed
hope. The baby was kicking up a storm and my heart felt lighter. We
just needed more information to prepare for what lay ahead.
asked for a full body, head to toe scan, no interruptions, no advice,
just a full report on whether anything had changed from the 18-week
ultrasound. I wanted a dvd copy of the scan and I wanted pictures like
they give you when your baby counts.
I also made an
appointment with the only pediatric cardiologist in the state who does
fetal heart ultrasound scans. My biggest concern is the baby's heart.
Everything else seems to be irrelevant if the heart won't work so let's
start from there.
January 25, 2013
From the internet:
is also a condition called CPM - Confined Placental Mosaicism
where the placenta has the chromosomal abnormality and the baby is
fine. There is a woman who found out at 20 weeks that her baby had
enlarged kidneys. The MaterniT21 test came back positive for Trisomy
13. She had an amniocentesis that said her baby was fine. She was due
to deliver a few weeks ago.
happen to me right? I could be that one in a million women who gets a
positive result from this so-called foolproof test and it's just
something wrong with my placenta.
February 1, 2013
baby hasn't kicked me more than twice in two days. That's what the
doctors have told me to look for to determine how the baby is doing.
there is a death in utero, the baby will not deliver spontaneously. I
will have to go see if there is a heartbeat at the doctor's office, then
over to the hospital for an ultrasound to be sure there's no heartbeat
and then labor would be induced. Unless there is a normal,
pregnancy-related cause for a C-section, I will have to deliver the baby
like any other pregnancy. We are already well beyond the point of
bleeding and cramps.
On the way to the OB's office, I'm
scheduling everything in my mind. Okay, if I have to go get induced
tonight, the person who will be taking care of my son is available and
I'll probably be in the hospital all weekend. I'll tell my professors
what's going on and I might even finish out this semester at
Clearly, I was already numb from a month of
counting kicks and monitoring movement and researching what could go
wrong. I had no pictures of the baby and everything was unknown except
for a too-early ultrasound that showed most everything was wrong.
OB found the heart beating just fine. The heart rate was a little
slower than it had been but it's still strong. We're doing okay. Just
get through the weekend and go to the next couple of ultrasounds and see
where we are.
In the meantime, I asked about CPM -
Confined Placental Mosaicism. He had never heard of it but guessed that
the ultrasound in that lady's case hadn't indicated any problems and
there was reason to doubt the MaterniT21 result.
Just wishful thinking I guess.
To continue reading Joe's story...