Thank You, All.

We can't thank you all enough for the genuine care and affection you have shown us over the past several days: The replies we received to our email of March 18, the phone calls, the visits, all of the kindness people have expressed, we can't thank you enough.

It's only going to get more difficult for us as time goes on. We can only hope everyone continues to be so supportive.

Making a Decision

We talked to a lot of people. We asked a lot of questions. We read a lot. Gathering information, hearing experiences, and getting opinions was helpful, but it certainly wasn't going to make a decision any easier. In fact, it didn't do anything for the decision. That's not meant to say we didn't value what we learned, it just, in retrospect, had no impact whatsoever on our decision. Ultimately we made that call based on our opinion of ourselves.

My mantra throughout this process has been, "No matter what you think you'll do in a given situation, you have no idea what you'll actually do until you have no choice but the make the decision." We had no choice but to make the decision and it ultimately had to be made based on what we needed to do to move on with our lives.

For both of us, after much deliberation, what we needed to do to move on was meet the baby.

Our options are limited to begin with, but determining we want to meet the baby narrows those options to two: induce before 24 weeks, go through labor, and deliver a premature baby with little chance of being born alive; or carry the baby as long as possible (hopefully to term) and deliver what we hope to be a viable baby. In those terms, for us, the decision was clear.

Tonight we met with a doctor who specializes in delivery of sick babies. It seems he was under the impression that our decision was for an induction in the next few days. What we actually wanted to do was discuss our options with one additional doctor. After a brief, late evening meeting in Cherry Hill, we had finally come to an absolute decision. Carry the baby to term.

We decided that we wanted to let nature take its course and, if we're lucky, we'll get to spend some wuality time with our baby. For us, as soon as we made the decision to carry the baby to term, we could start spending time with her [the doctor in Cherry Hill was actually the first person we asked to tell us the sex of the baby].

Tonight, on the drive home from Cherry Hill, Molly Elizabeth got her name.

A Note to Our Friends...

After a few days of alone time and a great deal of reflection (not to mention a too-long-not-to-be-noticed absence from work) we've decided to send the below email to our friends and family:

Friends,
Please let me apologize in advance for providing this information via email, but I need to ask you all to respect my desire to avoid discussing this repeatedly. Erin and I are tremendously appreciative of the support we've received thus far. I'll attempt to bring you into the loop and express my sincere gratitude for all of your kindness.

This past Monday we had a comprehensive ultrasound and an amniocentesis. The results of the amnio revealed that the baby has an additional chromosome #18. Trisomy 18, the name of this particular chromosomal disorder, is quite severe. Among other things, the ultrasound also revealed a ventricular septal defect: an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly. This particular chromosomal abnormality combined with the severe heart defect (which is not an unusual symptom of Trisomy 18) create what our doctors consider a lethal condition.

Again, I apologize for sending this in an email; it's just easier than talking about it. I promise to try to keep you all informed.

The support of our friends and family will get us through this. Thank you.

Sean and Erin

In retrospect, we should have been more clear on a few points. 1) If you have questions, please ask us. It's not that we don't want to talk about it, it's more that we don't want to explain the scenario over and over again. 2) Please act normal. It was difficult enough to handle the news on its own. This discomfort was compounded when it was clear there were people who thought it better to ignore us completely, than say the wrong thing.

I can certainly respect this. Here is what the Trisomy 18 Foundation recommends.

Meeting with the Genetics Counselor(s)

Per the doctor's request, we headed up to the hospital. It wasn't our normal hospital, and the doctor we were going to see we only knew from the ultrasound and amnio from the previous Monday. So the 45 minute drive was quiet and unnerving. We knew what I had been told on the phone, and what we had learned from a previous meeting with a genetics counselor, but aside from that we knew nothing.

You've all been to the doctor. It seems that no matter where you go or why you're there, you wait. This was no different. We were told to come as soon as possible. We were told there was bad news. We still had to wait.

The genetics counselor came out to get us and informed us the doctor would join us after we talked for a bit. She introduced herself - since we had met with a different counselor previously - and she introduced the trainee who would be sitting in with us.

We went into a room that was way too small and, with four people, was over-occupied by about two people. We're about to receive a full explanation of the news that will forever change our perspective and it's being delivered by a stranger with a trainee lurking in the background. The doctor joined us later and made the room more crowded and just as uncomfortable.

I mean as hard as you try, is it plausible to envision a scenario where two complete strangers and a person you've met once before can see you at your most vulnerable and emotionally devastated and manage to make you feel comfortable?

This meeting was where we learned how severe the condition was and where we realized we were not preparing to cope with a disabled child, but more likely losing a child.

The Phone Call and a "Defining Moment"

Typically when someone has what they describe as a "defining moment" it's something inherently positive. Actually that's not true. More accurately, up until this point in my life I have been storing up these moments as positives. That all changes today.

At about 3 pm I received a call on my mobile. The voice on the other end was the doctor from our Level II and he said simply, "Is this a good time to talk?"

I've been around long enough to know that this is not how any good conversation begins.

Doc - "We've received the preliminary results of your amniocentesis and your baby is positive for Trisomy 18."

Me - "That's the more severe, isn't it?"

Doc - "Yes it is. We'd like you and your wife to come in to our office at Robert Wood. How soon can you be here?"

Me - "I have to get my wife from school and then head up there. We can be there by 4 pm."

First I called her mobile and told her she needed to leave school and meet me at my office. I told her we'd need to drive up to New Brunswick. I hadn't told her why, but she never questioned it.

She was outside my office within ten minutes. When I got in the car I had to tell her what I had just heard from the doctor. I will never forget the look on my wife's face when I told her. Nor will I forget her words that will pierce my ears forever, "why is this happening to me?"

Amniocentesis

An amniocentesis (amnio for short) is an invasive test that prenatally determines the chromosomal makeup of a baby. We passed on one early in the pregnancy because we were fairly certain we wouldn't change anything regardless of the results.

Well after the doctor finished the anatomical scan and explained what his concerns were, we were asked once again if we wanted to have an amnio done. The doctor did not recommend that we accept or decline, but he did offer some information we were in no way prepared for.

For the first time, we were forced to consider the possibility that this baby had Trisomy 18 - a considerably more severe disability than Down Syndrome (Trisomy 21). Some of the concerns the doctor was seeing on the ultrasound were: choroid plexus cysts on the baby's brain measuring larger than normal, fingers that overlapped one another, shorter measurements of longer bones, and most concerning - a Ventricular Septal Defect : A hole between the lower chambers of the heart which prevents the heart from pumping blood correctly. All of these things, we were told, were consistent with a chromosomal defect. At this point, we decided that we needed to have the amnio.

The test itself took only a few seconds. Neither of us watched the needle - just the monitor where the baby was still on the screen. We were told the results would take a few days.

Level II

Today's Level II ultrasound was planned weeks ago. As I've mentioned, there were some early markers that had us concerned about a potential chromosomal abnormality, but our last scan was good and our demeanor was positive. Right up until we walked into the room we were discussing "the big question".

"So do you want to know?" asked the technician, as she began her scan.

Yes. We both wanted to know the sex of the baby.

The ultrasound was comprehensive, and the technician was focused. She spent one hour (almost to the minute) scanning from every possible angle and carefully examining many different things. When she got up to leave the room she said, "The doctor will need to get a good look at the heart, so please make yourself comfortable. I'll also let him tell you the sex."

Thinking back, I am not certain why we weren't worried at that point?

When the doctor came in he went right to work. His scan was as intense as the technician's, yet he wasn't really talking to us at all. Finally, after another 30 minutes or so, he said, "I'm going to tell you about what I see because I know my silence is killing you. I do have some concerns."

That was the exact point at which everything changed with this pregnancy.

What we were thinking after Ultrasounds 1, 2 and 3

Between ultrasounds 2 and 3 were were extremely concerned. We did, however, remain positive. With our first child we didn't have an ultrasound until week 20, so we were of the opinion that we should try not to worry until we were told to worry. Nonetheless, we knew there was the possibility that a chromosomal abnormality may exist, and we privately began to consider the chance that we may have a child with Down syndrome.

While we were given the option of an amnio after ultrasound #3, we turned it down. We figured there was little to be gained: we weren't going to terminate the pregnancy, we were somewhat reassured by the most recent results, and we thought that risk of complicating the pregnancy was actually greater with an amnio. We were also told that the Level II ultrasound would likely pick up on any anatomical markers of Downs, and that the echo would identify heart defects.

In the first few days following ultrasound #3 we considered all of these options. After those few days passed, we moved ahead assuming all was well. In fact, right up until the point where we entered the room for the Level II, the thought taking up the most energy in our minds was Do we want to know the sex of the baby?

What we learned from Ultrasounds 1, 2 and 3

Early on in our pregnancy we had an ultrasound to help estimate a due date. In that scan the doctors identified a blood clot on mom. A follow-up scan was scheduled to be done at the hospital two weeks later. In that scan the doctor determined the blood clot was still there noted an increase in the size of the fluid behind the baby's neck. The measurements were above the normal range, however, the pregnancy was only in its 10th week. We were asked to return 10 days later to get within the 11-14 week timeframe, when these measurements are normally taken. We were also told that we should meet with a genetics counselor following that scan as an increased nuchal translucency is a common "marker" for chromosomal abnormalities such as Down syndrome.

When we returned for the third scan, the clot had resolved and the measurement of the fluid behind the neck was within normal range. At this point we were somewhat reassured. We met with the counselor and she laid out all of the facts concerning chromosomal abnormalities, and explained what the results of all three scans could mean. While what we heard from the counselor was upsetting, the measurements from this most recent scan gave us hope.

We were asked to consider an amniocentesis within the next two weeks, and to schedule a Level II ultrasound (also known as an anatomical scan) at 20 weeks and a fetal echocardiogram at 22 weeks. We decided against the amnio (for a number of reasons, which you can read about in the next post) and made appointments for the other two tests.