Saturday, February 9, 2013

Life will never be the same

I'm currently 24 weeks pregnant.  Seven weeks ago we had a routine ultrasound.  It was the first time in my life that I didn't lay awake worrying about what they'd find.  I'm going to call that my last night of peace.  On the way to the hospital we joked about having the doctor write down the baby's sex and sealing it in an envelope.  We would open it only if we both gave the launch sequence.

An hour later I was asking my partner if we could find out so we could name the baby in case the room full of specialists' predictions came true.

Let me back up a little.

December 28, 2012

The ultrasound technician wasn't saying anything during the scan.  I was asking what we were looking at and telling her what I had just learned in Biology 101 in university.  She wasn't really smiling or responding so I said are you seeing ten fingers and toes on there?

She zoomed in and showed me the baby's left hand and said yup, there's a little thumb and four fingers...on that hand...

We had been there twenty minutes and she put her hand on my arm and said I'm going to stop here to go get the doctor.  There are some problems with your baby.

I glanced over at my calm husband with a knowing look - I know honey, we've been here before.  These assholes are going to try and scare us.

"What problems?" I asked not at all worried.

She said there were issues with the kidneys, brain, heart, stomach, mouth/nose, jaw, feet, hands and the fold of skin at the back of the neck.  Oh and the intestines haven't gone inside like they should.

Oh.  Is that all???

A doctor came in that we had never met and told us we were probably looking at a chromosomal abnormality for there to be so many defects and issues.  He told us our fetus would likely be so delayed and deformed if it survived that we should consider our options for continuing the pregnancy.

First of all, our baby is not a fetus.  The person kicking me as we speak and the heartbeat we all just watched together means we've gone well beyond a medical term.  Secondly, my definition of a successful pregnancy is clearly different from this guy's so I made a crack about not caring if the baby becomes a doctor since they're overrated anyway.

We went in to this ultrasound appointment expecting to get some cute pictures for the scrapbook.  It's impossible to take in this much information with a toddler in the room who is getting restless and I need to go pee and I'd much rather talk to a doctor I trust.  We asked if we could stop the conversation and have the report sent to my obstetrician and take some time to talk this over as a family.

To continue reading:

MaterniT21 test

MaterniT21 test

January 4, 2013

We 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 Syndrome).

According to the internet:

This 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.

Babies 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

My 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 - Patau Syndrome.

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

I 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.

We discuss 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 delivery.

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.

I 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:

There 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. 

That could 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

The 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.

If 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 university.

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.

My 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

We can't do this alone

February 5, 2013

9:30 am

The report from the December ultrasound said our baby had (from head to toe) extra space around the brain, cleft palate, small jaw, thickening of the nuchal fold, polydactyly of one upper extremity (extra finger), a heart defect, bright kidneys (told this meant they were not functioning or had calcified), omphalocele (intestines herniated into the umbilical cord) and rocker bottom feet.  Even though the scan was only 20 minutes instead of the normal 45, the report said the baby's stomach wasn't filling and emptying which meant the baby wasn't swallowing amniotic fluid as should be expected.

What I knew going into this scan was the difference between 6 mm and 6.4 mm is very small so the nuchal fold wasn't THAT big and it was just a measurement on a moving baby that was only 18 weeks along.  Plus the baby was laying prone (on the belly) the whole time. The cleft palate and omphalocele are very fixable.  Babies only learn to swallow at around 23 weeks so to expect it five weeks prior was ridiculous.

The ultrasound technician this time around was wonderful.  She said the kidneys were still showing up a little large but no longer bright.  The baby was swallowing and the kidneys were functioning.  The growth had been right on target at the prior scan and gave me the exact due date we expected.  The current scan showed the baby was growing at around the 20th percentile.  That's the exact opposite of my first baby who was consistently at the 80th percentile or higher.  Essentially, most babies grow at around the 50th percentile or average growth.  My giant firstborn son grew way faster and bigger.  This child is growing slower and smaller.

Instead of noting the improvement in the kidneys - the report that went out to my OB said no changes from prior scan.  On the other hand, there was no heightened concern about the slow growth.  The fact that the baby had learned to swallow meant very little.  To us, it means the kidneys and dialysis are sliding off the list of things we need to worry about.  Swallowing which greatly improves the baby's chance of EATING after being born is also of less concern.

We got some great pictures.  We mistakenly asked for 3D pictures.  At 24 weeks, babies who are developing perfectly look like birds.  That was not the way to ease our minds.  But the rest of the ultrasound was encouraging. 

12:15 pm

I arrive at the pediatric cardiologist's office.  I'm ushered into a room right away.

1:15 pm

Doctor enters and apologizes for having me sit there with no television or magazines like the cozy waiting room offered.  No big deal.  It's not like I have much on my mind.  An hour of silence was just what I needed to get me closer to full on psychosis.  My partner was in the car with our sleeping, teething toddler.

I tell the doctor he can make it up to me by giving me a perfectly formed 24 week baby heart report.

He warns me that he doesn't talk during the scan but will tell me when he's finished what he sees.

He's brought a sheet of paper like you would give a kid to color.  It's got a picture of a newborn baby drawn on there and a dumbed-down version of a heart.  He draws on it while he talks.

The baby has a left superior vena cava.  No big deal.  Lots of people have those he tells me.  It just drains into the heart and blood flow carries on as normal.  The chambers are all perfect.  The valves are all perfect.  The septum that separates the heart which I'm expecting to be the problem is perfect.  The aorta however is measuring a little small.

While I'm still pregnant and the baby doesn't need to get oxygen through the lungs, it's not a big deal.  After birth, they will take the baby, do an echocardiogram and determine if there is in fact a coarctation.  If there is, the pressure will increase on the aorta and the weak spot will begin to pinch off and eventually stop supplying oxygen to the stomach, lungs and brain.  There's a tube type area that can alleviate the pressure but the medication that helps this happen causes babies to forget to breathe.  Given that my baby will likely forget to breathe anyway (doctor's words not mine) this medication is not recommended.

There is a surgery that will correct the coarctation.   They go in through the baby's ribs and snip the pinchy part of the aorta and stitch it up.  (Sorry for the technical jargon).  It's invasive and takes a long time to heal but will essentially fix the problem permanently.

Okay, so we're out of the woods.

"...but I don't advise you to have this surgery on your baby..."

I had read about families who met doctors who advised against life-sustaining surgery.  I really didn't expect to meet any of them.

I must have appeared to not understand so he gave me an analogy.

Imagine you had bought a house.  You get in there and it has numerous problems but you figure you can get them fixed.  One guy will tell you oh I can take care of the asbestos.  Another guy will assure you he can fix the plumbing.  Someone else will tell you not to worry about the electrical.  But at the end of the day, the house is not worth it.  In other words, between the omphalocele and the cleft palate and the developmental delays this baby will undoubtedly have, well, you know.

I sat there dumbstruck for a minute and replied "I don't think you can compare the value of a rundown house to a baby's life.  If anything, that story only reflects how little value the doctors in Maine place on a child with special needs."

So then he arrived at the real reason for his recommendation to not get this surgery.  In his experience, the surgeons capable of doing the procedure will not touch a baby with Trisomy 13. 

There is a possibility of having a stent inserted into the problem area.  It could help for hours, days, weeks even years.  If we have the real surgery, the baby may not be accessible and we could be deprived of the time we would have had if we had opted for the bandaid solution.

So do we find a hospital willing to do the surgery?  Should I move to North Carolina where my partner's family lives and to a place they nicknamed the research triangle?  Maybe they would be happy to take a chance on a child if it might increase their 'miracles worked' numbers.  Maybe I could move back to Canada and find a hospital that will work on a child with a T13 diagnosis.

I have four more months of pregnancy to find a solution.  My baby is one pound, two ounces right now.  How accurate is the measurement of the aorta?  What if the doctor is wrong about the diagnosis?

It's all bargaining.  And it means a hell of a lot of work rewriting the book on Trisomy 13 in Maine.

We went home and watched our ultrasound video and imagined what it would be like to hold the baby's hand even for a minute.

February 6, 2013

I went to see my obstetrician.  The report he got from the head toe scan said no changes although I am still pregnant (which I'm taking as a good sign) and the baby is kicking constantly (with this diagnosis, they are not supposed to be active).  The baby is swallowing and the kidneys appear to be working.  But officially, no changes.

My two-year-old is working on four molars and is screaming on my shoulder while I talk to the doctor.

I show the piece of paper with the heart picture on it and explain what was told to me as best as I can recollect.

So is it true?  In your time at the hospital have you seen or heard of heart surgery on a child with Trisomy 13.

In his ever-diplomatic way, my OB said he wasn't aware of a refusal to do surgery so much as a lack of opportunity.  There just haven't been any T13 or T18 babies to do the surgery on.  Most either don't make it because of miscarriage or due to medical termination.

He's been at the same hospital for more than 25 years.

February 8, 2013

I decided to write about what's going on in my life.

This past month and a half I've dropped by hell more than once.  We tried telling a small circle of people.  We tried telling a bigger circle of people.  We tried putting it on Facebook.  There are success stories but there are also staggering statistics and attitudes in the medical profession that insist our baby isn't worth saving.

We can't do this alone.  I mean we literally cannot do this alone.  We live in a state where there are no other cases of children who survive (at least that's what we've been told so far).  Our local hospital is one of the best hospitals in New England and we have already been advised that there are no surgeons who will touch one of the surgeries we might need given the diagnosis we've received.

We need information.  We need connections.  We need to talk to other families who know what we are going through.  

For a while this became a discussion about abortion.  It became a religious discussion.  It became about children with special needs.  Maybe in twenty or thirty years I will have the energy to enter into those debates and discussions.

We have very little time to gather all the information we need to take care of our baby.  We are choosing to give this baby every opportunity to live but are hitting roadblocks in providing those opportunities and are faced with the very real possibility that we may never see our child take a breath.

All I know is that today, I am pregnant.  My baby is kicking and has a strong heartbeat.  We could use a little help getting through tomorrow.